-
1
-
-
67650787726
-
An introduction to primary immunodeficiency diseases
-
N. Rezaei, A. Aghamohammadi, and L.D. Notarangelo (Eds.). Berlin Heidelberg: Springer-Verlag
-
N. Rezaei, F.A. Bonilla, K.E. Sullivan, E. de Vries, and J.S. Orange. An introduction to primary immunodeficiency diseases. In: N. Rezaei, A. Aghamohammadi, and L.D. Notarangelo (Eds.). Primary Immunodeficiency Diseases: Definition, Diagnosis and Management. Berlin Heidelberg: Springer-Verlag, pp. 1-38, 2008.
-
(2008)
Primary Immunodeficiency Diseases: Definition, Diagnosis and Management
, pp. 1-38
-
-
Rezaei, N.1
Bonilla, F.A.2
Sullivan, K.E.3
De Vries, E.4
Orange, J.S.5
-
2
-
-
34948872289
-
Primary immunodeficiency diseases: An update from the international union of immunological societies primary immunodeficiency diseases classification committee
-
R.S. Geha, L.D. Notarangelo, J.L. Casanova, H. Chapel, M.E. Conley, A. Fischer, et al. Primary immunodeficiency diseases: An update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee. J Allergy Clin Immunol 120: 776-794, 2007.
-
(2007)
J Allergy Clin Immunol
, vol.120
, pp. 776-794
-
-
Geha, R.S.1
Notarangelo, L.D.2
Casanova, J.L.3
Chapel, H.4
Conley, M.E.5
Fischer, A.6
-
3
-
-
0036844992
-
Primary immunodeficiency in Iran: First report of the national registry of PID in children and adults
-
DOI 10.1023/A:1020660416865
-
A. Aghamohammadi, M. Moein, A. Farhoudi, Z. Pourpak, N. Rezaei, K. Abolmaali, et al. Primary immunodeficiency in Iran: First report of the National Registry of PID in Children and Adults. J Clin Immunol 22: 375-380, 2002. (Pubitemid 35305887)
-
(2002)
Journal of Clinical Immunology
, vol.22
, Issue.6
, pp. 375-380
-
-
Aghamohammadi, A.1
Moein, M.2
Farhoudi, A.3
Pourpak, Z.4
Rezaei, N.5
Abolmaali, K.6
Movahedi, M.7
Gharagozlou, M.8
Ghazi, B.M.S.9
Mahmoudi, M.10
Mansouri, D.11
Arshi, S.12
Trash, N.J.13
Akbari, H.14
Sherkat, R.15
Hosayni, R.F.16
Hashemzadeh, A.17
Mohammadzadeh, I.18
Amin, R.19
Kashef, S.20
Alborzi, A.21
Karimi, A.22
Khazaei, H.23
more..
-
4
-
-
34548276056
-
The clinical, immunohematological, and molecular study of Iranian patients with severe congenital neutropenia
-
DOI 10.1007/s10875-007-9106-y
-
N. Rezaei, M. Moin, Z. Pourpak, A. Ramyar, M. Izadyar, Z. Chavoshzadeh, et al. The clinical, immunohematological, and molecular study of Iranian patients with severe congenital neutropenia. J Clin Immunol 27: 525-533, 2007. (Pubitemid 47319259)
-
(2007)
Journal of Clinical Immunology
, vol.27
, Issue.5
, pp. 525-533
-
-
Rezaei, N.1
Moin, M.2
Pourpak, Z.3
Ramyar, A.4
Izadyar, M.5
Chavoshzadeh, Z.6
Sherkat, R.7
Aghamohammadi, A.8
Yeganeh, M.9
Mahmoudi, M.10
Mahjoub, F.11
Germeshausen, M.12
Grudzien, M.13
Horwitz, M.S.14
Klein, C.15
Farhoudi, A.16
-
5
-
-
0037089332
-
Autoimmunity in human primary immunodeficiency diseases
-
DOI 10.1182/blood.V99.8.2694
-
P.D. Arkwright, M. Abinun, and A.J. Cant. Autoimmunity in human primary immunodeficiency diseases. Blood 99: 2694-2702, 2002. (Pubitemid 34525354)
-
(2002)
Blood
, vol.99
, Issue.8
, pp. 2694-2702
-
-
Arkwright, P.D.1
Abinun, M.2
Cant, A.J.3
-
6
-
-
0036221656
-
Hematologic complications of primary immune deficiencies
-
DOI 10.1054/blre.2001.0185
-
C. Cunningham-Rundles. Hematologic complications of primary immune deficiencies. Blood Rev 16: 61-64, 2002. (Pubitemid 34293557)
-
(2002)
Blood Reviews
, vol.16
, Issue.1
, pp. 61-64
-
-
Cunningham-Rundles, C.1
-
7
-
-
17844382779
-
Differential diagnosis of neutropenia
-
A. Tefferi (Ed.). Totowa, NJ: Humana Press
-
C.L. Constantinou. Differential diagnosis of neutropenia. In: A. Tefferi (Ed.). Primary Hematology. Totowa, NJ: Humana Press, pp. 93-105, 2001.
-
(2001)
Primary Hematology
, pp. 93-105
-
-
Constantinou, C.L.1
-
8
-
-
0036216719
-
Neutropenia associated with primary immunodeficiency syndromes
-
B. Cham, M.A. Bonilla, and J. Winkelstein. Neutropenia associated with primary immunodeficiency syndromes. Semin Hematol 39: 107-112, 2002. (Pubitemid 34298834)
-
(2002)
Seminars in Hematology
, vol.39
, Issue.2
, pp. 107-112
-
-
Cham, B.1
Bonilla, M.A.2
Winkelstein, J.3
-
9
-
-
17844406153
-
Neutropenia in Iranian patients with primary immunodeficiency disorders
-
N. Rezaei, A. Farhoudi, Z. Pourpak, A. Aghamohammadi, M. Moin, M. Movahedi, and M. Gharagozlou. Neutropenia in Iranian patients with primary immunodeficiency disorders. Haematologica 90: 554-556, 2005. (Pubitemid 40592902)
-
(2005)
Haematologica
, vol.90
, Issue.4
, pp. 554-556
-
-
Rezaei, N.1
Farhoudi, A.2
Pourpak, Z.3
Aghamohammadi, A.4
Moin, M.5
Movahedi, M.6
Gharagozlou, M.7
-
10
-
-
34948886663
-
Severe congenital neutropenia: New genes explain an old disease
-
DOI 10.1097/BOR.0b013e3282f05cc2, PII 0000228120071100000019
-
G. Bohn, K.Welte, and C. Klein. Severe congenital neutropenia: New genes explain an old disease. Curr Opin Rheumatol 19: 644-650, 2007. (Pubitemid 47530887)
-
(2007)
Current Opinion in Rheumatology
, vol.19
, Issue.6
, pp. 644-650
-
-
Bohn, G.1
Welte, K.2
Klein, C.3
-
11
-
-
35948971397
-
Genetic heterogeneity in severe congenital neutropenia: How many aberrant pathways can kill a neutrophil?
-
DOI 10.1097/ACI.0b013e3282f1d690, PII 0013083220071200000005
-
A.A. Schaffer and C. Klein. Genetic heterogeneity in severe congenital neutropenia: How many aberrant pathways can kill a neutrophil? Curr Opin Allergy Clin Immunol 7: 481-494, 2007. (Pubitemid 350076443)
-
(2007)
Current Opinion in Allergy and Clinical Immunology
, vol.7
, Issue.6
, pp. 481-494
-
-
Schaffer, A.A.1
Klein, C.2
-
12
-
-
42049090976
-
Congenital Neutropenia Syndromes
-
DOI 10.1016/j.iac.2008.01.007, PII S0889856108000027
-
K. Boztug, K. Welte, C. Zeidler, and C. Klein. Congenital neutropenia syndromes. Immunol Allergy Clin North Am 28: 259-275, vii-viii, 2008. (Pubitemid 351522409)
-
(2008)
Immunology and Allergy Clinics of North America
, vol.28
, Issue.2
, pp. 259-275
-
-
Boztug, K.1
Welte, K.2
Zeidler, C.3
Klein, C.4
-
13
-
-
33745508917
-
Severe Congenital Neutropenia
-
DOI 10.1053/j.seminhematol.2006.04.004, PII S0037196306000783, Constitutional Marrow Failure
-
K.Welte, C. Zeidler, and D.C. Dale. Severe congenital neutropenia. Semin Hematol 43: 189-195, 2006. (Pubitemid 43963504)
-
(2006)
Seminars in Hematology
, vol.43
, Issue.3
, pp. 189-195
-
-
Welte, K.1
Zeidler, C.2
Dale, D.C.3
-
14
-
-
33845367673
-
Severe congenital neutropenia: Inheritance and pathophysiology
-
PII 0006275220070100000006
-
J. Skokowa, M. Germeshausen, C. Zeidler, and K. Welte. Severe congenital neutropenia: Inheritance and pathophysiology. Curr Opin Hematol 14: 22-28, 2007. (Pubitemid 44885608)
-
(2007)
Current Opinion in Hematology
, vol.14
, Issue.1
, pp. 22-28
-
-
Skokowa, J.1
Germeshausen, M.2
Zeidler, C.3
Welte, K.4
-
15
-
-
84900239083
-
Phagocytes defects
-
N. Rezaei, A. Aghamohammadi, and L.D. Notarangelo (Ed.). Berlin Heidelberg: Springer-Verlag
-
U. Wintergerst, S.D. Rosenzweig, M. Abinun, H.L. Malech, S.M. Holland, and N. Rezaei. Phagocytes defects. In: N. Rezaei, A. Aghamohammadi, and L.D. Notarangelo (Ed.). Primary Immunodeficiency Diseases: Definition, Diagnosis and Management. Berlin Heidelberg: Springer-Verlag, pp. 1-38, 2008.
-
(2008)
Primary Immunodeficiency Diseases: Definition, Diagnosis and Management
, pp. 1-38
-
-
Wintergerst, U.1
Rosenzweig, S.D.2
Abinun, M.3
Malech, H.L.4
Holland, S.M.5
Rezaei, N.6
-
16
-
-
33749478463
-
The Severe Chronic Neutropenia International Registry: 10-Year follow-up report
-
D.C. Dale, A.A. Bolyard, B.G. Schwinzer, G. Pracht, M.A. Bonilla, L. Boxer, et al. The Severe Chronic Neutropenia International Registry: 10-Year Follow-up Report. Support Cancer Ther 3: 220-231, 2006. (Pubitemid 44521081)
-
(2006)
Supportive Cancer Therapy
, vol.3
, Issue.4
, pp. 220-231
-
-
Dale, D.C.1
Bolyard, A.A.2
Schwinzer, B.G.3
Pracht, G.4
Bonilla, M.A.5
Boxer, L.6
Freedman, M.H.7
Donadieu, J.8
Kannourakis, G.9
Alter, B.P.10
Cham, B.P.11
Winkelstein, J.12
Kinsey, S.E.13
Zeidler, C.14
Welte, K.15
-
17
-
-
23044470251
-
Congenital neutropenia and primary immunodeficiency disorders: A survey of 26 Iranian patients
-
DOI 10.1097/01.mph.0000172280.27318.80
-
N. Rezaei, A. Farhoudi, A. Ramyar, Z. Pourpak, A. Aghamohammadi, B. Mohammadpour, et al. Congenital neutropenia and primary immunodeficiency disorders: A survey of 26 Iranian patients. J Pediatr Hematol Oncol 27: 351-356, 2005. (Pubitemid 41077022)
-
(2005)
Journal of Pediatric Hematology/Oncology
, vol.27
, Issue.7
, pp. 351-356
-
-
Rezaei, N.1
Farhoudi, A.2
Ramyar, A.3
Pourpak, Z.4
Aghamohammadi, A.5
Mohammadpour, B.6
Moin, M.7
Gharagozlou, M.8
Movahedi, M.9
Ghazi, B.M.10
Izadyar, M.11
Mahmoudi, M.12
-
18
-
-
57349090791
-
Necrosis of nasal cartilage due to mucormycosis in a patient with severe congenital neutropenia due to HAX1 deficiency
-
A. Fahimzad, Z. Chavoshzadeh, H. Abdollahpour, C. Klein, and N. Rezaei. Necrosis of nasal cartilage due to mucormycosis in a patient with severe congenital neutropenia due to HAX1 deficiency. J Investig Allergol Clin Immunol 18: 469-472, 2008.
-
(2008)
J Investig Allergol Clin Immunol
, vol.18
, pp. 469-472
-
-
Fahimzad, A.1
Chavoshzadeh, Z.2
Abdollahpour, H.3
Klein, C.4
Rezaei, N.5
-
19
-
-
42049117271
-
Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotype-phenotype associations
-
M. Germeshausen, M. Grudzien, C. Zeidler, H. Abdollahpour, S. Yetgin, N. Rezaei, et al. Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotype-phenotype associations. Blood 111: 4954-4957, 2008.
-
(2008)
Blood
, vol.111
, pp. 4954-4957
-
-
Germeshausen, M.1
Grudzien, M.2
Zeidler, C.3
Abdollahpour, H.4
Yetgin, S.5
Rezaei, N.6
-
20
-
-
41549148667
-
Association of HAX1 deficiency with neurological disorder
-
DOI 10.1055/s-2008-1062704
-
N. Rezaei, Z. Chavoshzadeh, R.A. O. I. Sandrock, and C. Klein. Association of HAX1 deficiency with neurological disorder. Neuropediatrics 38: 261-263, 2007. (Pubitemid 351462133)
-
(2007)
Neuropediatrics
, vol.38
, Issue.5
, pp. 261-263
-
-
Rezaei, N.1
Chavoshzadeh, Z.2
Alaei, O.R.3
Sandrock, I.4
Klein, C.5
-
21
-
-
57349091704
-
Neurodevelopmental abnormalities associated with severe congenital neutropenia due to the R86X mutation in the HAX1 gene
-
N. Ishikawa, S. Okada, M. Miki, K. Shirao, H. Kihara, M. Tsumura, et al. Neurodevelopmental abnormalities associated with severe congenital neutropenia due to the R86X mutation in the HAX1 gene. J Med Genet 45: 802-807, 2008.
-
(2008)
J Med Genet
, vol.45
, pp. 802-807
-
-
Ishikawa, N.1
Okada, S.2
Miki, M.3
Shirao, K.4
Kihara, H.5
Tsumura, M.6
-
22
-
-
58249089770
-
A syndrome with congenital neutropenia and mutations in G6PC3
-
K. Boztug, G. Appaswamy, A. Ashikov, A.A. Schäffer, U. Salzer, J. Diestelhorst, et al. A syndrome with congenital neutropenia and mutations in G6PC3. N Engl J Med 360: 32-43, 2009.
-
(2009)
N Engl J Med
, vol.360
, pp. 32-43
-
-
Boztug, K.1
Appaswamy, G.2
Ashikov, A.3
Schäffer, A.A.4
Salzer, U.5
Diestelhorst, J.6
-
23
-
-
58149127255
-
Genetic and molecular diagnosis of severe congenital neutropenia
-
A.C. Ward and D.C. Dale. Genetic and molecular diagnosis of severe congenital neutropenia. Curr Opin Hematol 16: 9-13, 2009.
-
(2009)
Curr Opin Hematol
, vol.16
, pp. 9-13
-
-
Ward, A.C.1
Dale, D.C.2
-
24
-
-
0034307655
-
Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia
-
D.C. Dale, R.E. Person, A.A. Bolyard, A.G. Aprikyan, C. Bos, M.A. Bonilla, et al. Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia. Blood 96: 2317-2322, 2000.
-
(2000)
Blood
, vol.96
, pp. 2317-2322
-
-
Dale, D.C.1
Person, R.E.2
Bolyard, A.A.3
Aprikyan, A.G.4
Bos, C.5
Bonilla, M.A.6
-
25
-
-
80052099422
-
Incidence of SCN-associated gene mutations in severe congenital neutropenia patients in North America
-
J. Xia, A.A. Bolyard, E. Rodger, S. Stein, A.A.G. Aprikyan, D.C. Dale, and D.C. Link. Incidence of SCN-associated gene mutations in severe congenital neutropenia patients in North America. In: 50th American Society of Hematology Annual Meeting, 2008.
-
(2008)
50th American Society of Hematology Annual Meeting
-
-
Xia, J.1
Bolyard, A.A.2
Rodger, E.3
Stein, S.4
Aprikyan, A.A.G.5
Dale, D.C.6
Link, D.C.7
-
26
-
-
2542434031
-
Mutations in the ELA2 gene correlate with more severe expression of neutropenia: A study of 81 patients from the French Neutropenia Register
-
DOI 10.1182/blood-2003-10-3518
-
C. Bellanne-Chantelot, S. Clauin, T. Leblanc, B. Cassinat, F. Rodrigues-Lima, S. Beaufils, et al. Mutations in the ELA2 gene correlate with more severe expression of neutropenia: A study of 81 patients from the French Neutropenia Register. Blood 103: 4119-4125, 2004. (Pubitemid 38685352)
-
(2004)
Blood
, vol.103
, Issue.11
, pp. 4119-4125
-
-
Bellanne-Chantelot, C.1
Clauin, S.2
Leblanc, T.3
Cassinat, B.4
Rodrigues-Lima, F.5
Beaufils, S.6
Vaury, C.7
Barkaoui, M.8
Fenneteau, O.9
Maier-Redelsperger, M.10
Chomienne, C.11
Donadieu, J.12
-
27
-
-
0023856438
-
Myelomonocytic cell lineage expression of the neutrophil elastase gene
-
H. Takahashi, T. Nukiwa, P. Basset, and R.G. Crystal. Myelomonocytic cell lineage expression of the neutrophil elastase gene. J Biol Chem 263: 2543-2547, 1988. (Pubitemid 18060324)
-
(1988)
Journal of Biological Chemistry
, vol.263
, Issue.5
, pp. 2543-2547
-
-
Takahashi, H.1
Nukiwa, T.2
Basset, P.3
Crystal, R.G.4
-
28
-
-
34548219046
-
Double de novo mutations of ELA2 in cyclic and severe congenital neutropenia
-
DOI 10.1002/humu.20529
-
S.J. Salipante, K.F. Benson, J. Luty, V. Hadavi, R. Kariminejad, M.H. Kariminejad, et al. Double de novo mutations of ELA2 in cyclic and severe congenital neutropenia. Hum Mutat 28: 874-881, 2007. (Pubitemid 47579937)
-
(2007)
Human Mutation
, vol.28
, Issue.9
, pp. 874-881
-
-
Salipante, S.J.1
Benson, K.F.2
Luty, J.3
Hadavi, V.4
Kariminejad, R.5
Kariminejad, M.H.6
Rezaei, N.7
Horwitz, M.S.8
-
29
-
-
33745490496
-
Mutations in neutrophil elastase causing congenital neutropenia lead to cytoplasmic protein accumulation and induction of the unfolded protein response
-
DOI 10.1182/blood-2005-11-4689
-
I. Kollner, B. Sodeik, S. Schreek, H. Heyn, N. von Neuhoff, M. Germeshausen, et al. Mutations in neutrophil elastase causing congenital neutropenia lead to cytoplasmic protein accumulation and induction of the unfolded protein response. Blood 108: 493-500, 2006. (Pubitemid 44061347)
-
(2006)
Blood
, vol.108
, Issue.2
, pp. 493-500
-
-
Kollner, I.1
Sodeik, B.2
Schreek, S.3
Heyn, H.4
Von Neuhoff, N.5
Germeshausen, M.6
Zeidler, C.7
Kruger, M.8
Schlegelberger, B.9
Welte, K.10
Beger, C.11
-
30
-
-
39649098272
-
Mutations of the ELA2 gene found in patients with severe congenital neutropenia induce the unfolded protein response and cellular apoptosis
-
DOI 10.1182/blood-2006-11-057299
-
D.S. Grenda,M.Murakami, J. Ghatak, J. Xia, L.A. Boxer, D. Dale, et al.Mutations of the ELA2 gene found in patients with severe congenital neutropenia induce the unfolded protein response and cellular apoptosis. Blood 110: 4179-4187, 2007. (Pubitemid 351377781)
-
(2007)
Blood
, vol.110
, Issue.13
, pp. 4179-4187
-
-
Grenda, D.S.1
Murakami, M.2
Ghatak, J.3
Xia, J.4
Boxer, L.A.5
Dale, D.6
Dinauer, M.C.7
Link, D.C.8
-
31
-
-
36549023532
-
Severe congenital neutropenia and the unfolded protein response
-
DOI 10.1097/MOH.0b013e3282f13cd2, PII 0006275220080100000002
-
J. Xia and D.C. Link. Severe congenital neutropenia and the unfolded protein response. Curr Opin Hematol 15: 1-7, 2008. (Pubitemid 350191022)
-
(2008)
Current Opinion in Hematology
, vol.15
, Issue.1
, pp. 1-7
-
-
Xia, J.1
Link, D.C.2
-
32
-
-
0041353534
-
Mutations associated with neutropenia in dogs and humans disrupt intracellular transport of neutrophil elastase
-
DOI 10.1038/ng1224
-
K.F. Benson, F.Q. Li, R.E. Person, D. Albani, Z. Duan, J.Wechsler, et al. Mutations associated with neutropenia in dogs and humans disrupt intracellular transport of neutrophil elastase. Nat Genet 35: 90-96, 2003. (Pubitemid 37048601)
-
(2003)
Nature Genetics
, vol.35
, Issue.1
, pp. 90-96
-
-
Benson, K.F.1
Li, F.-Q.2
Person, R.E.3
Albani, D.4
Duan, Z.5
Wechsler, J.6
Meade-White, K.7
Williams, K.8
Acland, G.M.9
Niemeyer, G.10
Lothrop, C.D.11
Horwitz, M.12
-
33
-
-
1642619057
-
Hereditary neutropenia: Dogs explain human neutrophil elastase mutations
-
DOI 10.1016/j.molmed.2004.02.002, PII S1471491404000504
-
M. Horwitz, K.F. Benson, Z. Duan, F.Q. Li, and R.E. Person. Hereditary neutropenia: Dogs explain human neutrophil elastase mutations. Trends Mol Med 10: 163-170, 2004. (Pubitemid 38410974)
-
(2004)
Trends in Molecular Medicine
, vol.10
, Issue.4
, pp. 163-170
-
-
Horwitz, M.1
Benson, K.F.2
Duan, Z.3
Li, F.-Q.4
Person, R.E.5
-
34
-
-
0037901102
-
Cellular and molecular abnormalities in severe congenital neutropenia predisposing to leukemia
-
DOI 10.1016/S0301-472X(03)00048-1
-
A.A. Aprikyan, T. Kutyavin, S. Stein, P. Aprikian, E. Rodger, W.C. Liles, et al. Cellular and molecular abnormalities in severe congenital neutropenia predisposing to leukemia. Exp Hematol 31: 372-381, 2003. (Pubitemid 36579362)
-
(2003)
Experimental Hematology
, vol.31
, Issue.5
, pp. 372-381
-
-
Aprikyan, A.A.G.1
Kutyavin, T.2
Stein, S.3
Aprikian, P.4
Rodger, E.5
Liles, W.C.6
Boxer, L.A.7
Dale, D.C.8
-
35
-
-
33845904894
-
HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease)
-
DOI 10.1038/ng1940, PII NG1940
-
C. Klein, M. Grudzien, G. Appaswamy, M. Germeshausen, I. Sandrock, A.A. Schaffer, et al. HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease). Nat Genet 39: 86-92, 2007. (Pubitemid 46026506)
-
(2007)
Nature Genetics
, vol.39
, Issue.1
, pp. 86-92
-
-
Klein, C.1
Grudzien, M.2
Appaswamy, G.3
Germeshausen, M.4
Sandrock, I.5
Schaffer, A.A.6
Rathinam, C.7
Boztug, K.8
Schwinzer, B.9
Rezaei, N.10
Bohn, G.11
Melin, M.12
Carlsson, G.13
Fadeel, B.14
Dahl, N.15
Palmblad, J.16
Henter, J.-I.17
Zeidler, C.18
Grimbacher, B.19
Welte, K.20
more..
-
36
-
-
0031569110
-
HAX-1, a Novel Intracellular Protein, Localized on Mitochondria, Directly Associates with HS1, a Substrate of Src Family Tyrosine Kinases
-
Y. Suzuki, C. Demoliere, D. Kitamura, H. Takeshita,U. Deuschle, and T.Watanabe. HAX-1, a novel intracellular protein, localized onmitochondria, directly associates with HS1, a substrate of Src family tyrosine kinases. J Immunol 158: 2736-2744, 1997. (Pubitemid 127470532)
-
(1997)
Journal of Immunology
, vol.158
, Issue.6
, pp. 2736-2744
-
-
Suzuki, Y.1
Demoliere, C.2
Kitamura, D.3
Takeshita, H.4
Deuschle, U.5
Watanabe, T.6
-
37
-
-
0034636015
-
The polycystic kidney disease protein PKD2 interacts with Hax-1, a protein associated with the actin cytoskeleton
-
DOI 10.1073/pnas.97.8.4017
-
A.R. Gallagher, A. Cedzich, N. Gretz, S. Somlo, and R. Witzgall. The polycystic kidney disease protein PKD2 interacts with Hax-1, a protein associated with the actin cytoskeleton. Proc Natl Acad Sci U S A 97: 4017-4022, 2000. (Pubitemid 30226079)
-
(2000)
Proceedings of the National Academy of Sciences of the United States of America
, vol.97
, Issue.8
, pp. 4017-4022
-
-
Gallagher, A.R.1
Cedzich, A.2
Gretz, N.3
Somlo, S.4
Witzgall, R.5
-
38
-
-
10344234244
-
13 stimulates cell migration through cortactin-interacting protein Hax-1
-
DOI 10.1074/jbc.M408836200
-
V. Radhika, D. Onesime, J.H. Ha, and N. Dhanasekaran. Galpha13 stimulates cell migration through cortactin-interacting protein Hax-1. J Biol Chem 279: 49406-49413, 2004. (Pubitemid 39625826)
-
(2004)
Journal of Biological Chemistry
, vol.279
, Issue.47
, pp. 49406-49413
-
-
Radhika, V.1
Onesime, D.2
Ji, H.H.3
Dhanasekaran, N.4
-
39
-
-
40449124712
-
Hax1-mediated processing of HtrA2 by Parl allows survival of lymphocytes and neurons
-
DOI 10.1038/nature06604, PII NATURE06604
-
J.R. Chao, E. Parganas, K. Boyd, C.Y. Hong, J.T. Opferman, and J.N. Ihle. Hax1- mediated processing of HtrA2 by Parl allows survival of lymphocytes and neurons. Nature 452: 98-102, 2008. (Pubitemid 351355088)
-
(2008)
Nature
, vol.452
, Issue.7183
, pp. 98-102
-
-
Chao, J.-R.1
Parganas, E.2
Boyd, K.3
Hong, C.Y.4
Opferman, J.T.5
Ihle, J.N.6
-
40
-
-
0035093787
-
Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia
-
DOI 10.1038/85886
-
K. Devriendt, A.S. Kim, G. Mathijs, S.G. Frints, M. Schwartz, J.J. Van Den Oord, et al. Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia. Nat Genet 27: 313-317, 2001. (Pubitemid 32201854)
-
(2001)
Nature Genetics
, vol.27
, Issue.3
, pp. 313-317
-
-
Devriendt, K.1
Kim, A.S.2
Mathijs, G.3
Frints, S.G.M.4
Schwartz, M.5
Van Den Oord, J.J.6
Verhoef, G.E.G.7
Boogaerts, M.A.8
Fryns, J.-P.9
You, D.10
Rosen, M.K.11
Vandenberghe, P.12
-
41
-
-
9444221962
-
Mechanisms of WASp-mediated hematologic and immunologic disease
-
DOI 10.1182/blood-2004-04-1678
-
S. Burns, G.O. Cory, W. Vainchenker, and A.J. Thrasher. Mechanisms of WASp-mediated hematologic and immunologic disease. Blood 104: 3454-3462, 2004. (Pubitemid 39564413)
-
(2004)
Blood
, vol.104
, Issue.12
, pp. 3454-3462
-
-
Burns, S.1
Cory, G.O.2
Vainchenker, W.3
Thrasher, A.J.4
-
42
-
-
33749343053
-
Two novel activating mutations in the Wiskott-Aldrich syndrome protein result in congenital neutropenia
-
DOI 10.1182/blood-2006-01-010249
-
P.J. Ancliff, M.P. Blundell, G.O. Cory, Y. Calle, A. Worth, H. Kempski, et al. Two novel activating mutations in the Wiskott-Aldrich syndrome protein result in congenital neutropenia. Blood 108: 2182-2189, 2006. (Pubitemid 44497498)
-
(2006)
Blood
, vol.108
, Issue.7
, pp. 2182-2189
-
-
Ancliff, P.J.1
Blundell, M.P.2
Cory, G.O.3
Calle, Y.4
Worth, A.5
Kempski, H.6
Burns, S.7
Jones, G.E.8
Sinclair, J.9
Kinnon, C.10
Hann, I.M.11
Gale, R.E.12
Linch, D.C.13
Thrasher, A.J.14
-
43
-
-
34548447079
-
Unregulated actin polymerization by WASp causes defects of mitosis and cytokinesis in X-linked neutropenia
-
DOI 10.1084/jem.20062324
-
D.A. Moulding, M.P. Blundell, D.G. Spiller, M.R. White, G.O. Cory, Y. Calle, et al. Unregulated actin polymerization by WASp causes defects of mitosis and cytokinesis in X-linked neutropenia. J Exp Med 204: 2213-2224, 2007. (Pubitemid 47360880)
-
(2007)
Journal of Experimental Medicine
, vol.204
, Issue.9
, pp. 2213-2224
-
-
Moulding, D.A.1
Blundell, M.P.2
Spiller, D.G.3
White, M.R.H.4
Cory, G.O.5
Calle, Y.6
Kempski, H.7
Sinclair, J.8
Ancliff, P.J.9
Kinnon, C.10
Jones, G.E.11
Thrasher, A.J.12
-
46
-
-
0038757823
-
Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2
-
DOI 10.1038/ng1170
-
R.E. Person, F.Q. Li, Z. Duan, K.F. Benson, J. Wechsler, H.A. Papadaki, et al. Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2. Nat Genet 34: 308-312, 2003. (Pubitemid 36792864)
-
(2003)
Nature Genetics
, vol.34
, Issue.3
, pp. 308-312
-
-
Person, R.E.1
Li, F.-Q.2
Duan, Z.3
Benson, K.F.4
Wechsler, J.5
Papadaki, H.A.6
Eliopoulos, G.7
Kaufman, C.8
Bertolone, S.J.9
Nakamoto, B.10
Papayannopoulou, T.11
Grimes, H.L.12
Horwitz, M.13
-
47
-
-
41649106096
-
The zinc finger protein and transcriptional repressor Gfi1 as a regulator of the innate immune response
-
T. Moroy, H. Zeng, J. Jin, K.W. Schmid, A. Carpinteiro, and E. Gulbins. The zinc finger protein and transcriptional repressor Gfi1 as a regulator of the innate immune response. Immunobiology 213: 341-352, 2008.
-
(2008)
Immunobiology
, vol.213
, pp. 341-352
-
-
Moroy, T.1
Zeng, H.2
Jin, J.3
Schmid, K.W.4
Carpinteiro, A.5
Gulbins, E.6
-
48
-
-
7244231429
-
Gfi-1 restricts proliferation and preserves functional integrity of haematopoietic stem cells
-
DOI 10.1038/nature02994
-
H. Hock, M.J. Hamblen, H.M. Rooke, J.W. Schindler, S. Saleque, Y. Fujiwara, and S.H. Orkin. Gfi-1 restricts proliferation and preserves functional integrity of haematopoietic stem cells. Nature 431: 1002-1007, 2004. (Pubitemid 39434423)
-
(2004)
Nature
, vol.431
, Issue.7011
, pp. 1002-1007
-
-
Hock, H.1
Hamblen, M.J.2
Rooke, H.M.3
Schindler, J.W.4
Saleque, S.5
Fujiwara, Y.6
Orkin, S.H.7
-
49
-
-
33745096897
-
The incidence of leukemia and mortality from sepsis in patients with severe congenital neutropenia receiving long-term G-CSF therapy
-
DOI 10.1182/blood-2005-11-4370
-
P.S. Rosenberg, B.P. Alter, A.A. Bolyard, M.A. Bonilla, L.A. Boxer, B. Cham, et al. The incidence of leukemia and mortality from sepsis in patients with severe congenital neutropenia receiving long-term G-CSF therapy. Blood 107: 4628-4635, 2006. (Pubitemid 43882607)
-
(2006)
Blood
, vol.107
, Issue.12
, pp. 4628-4635
-
-
Rosenberg, P.S.1
Alter, B.P.2
Bolyard, A.A.3
Bonilla, M.A.4
Boxer, L.A.5
Cham, B.6
Fier, C.7
Freedman, M.8
Kannourakis, G.9
Kinsey, S.10
Schwinzer, B.11
Zeidler, C.12
Welte, K.13
Dale, D.C.14
-
50
-
-
0029129034
-
Mutations in the gene for the granulocyte colony-stimulating-factor receptor in patients with acute myeloid leukemia preceded by severe congenital neutropenia
-
F. Dong, R.K. Brynes, N. Tidow, K. Welte, B. Lowenberg, and I.P. Touw. Mutations in the gene for the granulocyte colony-stimulating-factor receptor in patients with acute myeloid leukemia preceded by severe congenital neutropenia.N Engl J Med 333: 487-493, 1995.
-
(1995)
N Engl J Med
, vol.333
, pp. 487-493
-
-
Dong, F.1
Brynes, R.K.2
Tidow, N.3
Welte, K.4
Lowenberg, B.5
Touw, I.P.6
-
51
-
-
33845972945
-
Incidence of CSF3R mutations in severe congenital neutropenia and relevance for leukemogenesis: Results of a long-term survey
-
DOI 10.1182/blood-2006-02-004275
-
M. Germeshausen, M. Ballmaier, and K. Welte. Incidence of CSF3R mutations in severe congenital neutropenia and relevance for leukemogenesis: Results of a long-term survey. Blood 109: 93-99, 2007. (Pubitemid 46053048)
-
(2007)
Blood
, vol.109
, Issue.1
, pp. 93-99
-
-
Germeshausen, M.1
Ballmaier, M.2
Welte, K.3
-
52
-
-
80052078465
-
Neutropenia-associated mutations of PFAAP5, a novel protein mediating transcriptional repressor interaction between Gfi1 and neutrophil elastase
-
Abstract
-
S.J. Salipante, K.F. Benson, and R.E. Person. Neutropenia-associated mutations of PFAAP5, a novel protein mediating transcriptional repressor interaction between Gfi1 and neutrophil elastase. In:ASH Annual Meeting Abstracts: Blood, p. Abstract 501, 2006.
-
(2006)
ASH Annual Meeting Abstracts: Blood
, pp. 501
-
-
Salipante, S.J.1
Benson, K.F.2
Person, R.E.3
-
53
-
-
80052085600
-
Neutropenia-associated mutations in PRDM5, a novel epigenetic regulator of hematopoiesis
-
Abstract
-
Z. Duan, S.Huang, and R.E. Person. Neutropenia-associated mutations in PRDM5, a novel epigenetic regulator of hematopoiesis. In: ASH Annual Meeting Abstracts: Blood, p. Abstract 503, 2006.
-
(2006)
ASH Annual Meeting Abstracts: Blood
, pp. 503
-
-
Duan, Z.1
Huang, S.2
Person, R.E.3
-
55
-
-
0023695353
-
Cyclic neutropenia: A clinical review
-
D.C. Dale and W.P.T. Hammond. Cyclic neutropenia: a clinical review. Blood Rev 2: 178-185, 1988.
-
(1988)
Blood Rev
, vol.2
, pp. 178-185
-
-
Dale, D.C.1
Hammond, W.P.T.2
-
56
-
-
80052084787
-
Clinical and laboratory findings in Iranian children with cyclic neutropenia
-
N. Rezaei, A. Farhoudi, Z. Pourpak, A. Aghamohammadi, A. Ramyar, M. Moin, et al. Clinical and laboratory findings in Iranian children with cyclic neutropenia. Iran J Allergy Asthma Immunol 3: 37-40, 2004.
-
(2004)
Iran J Allergy Asthma Immunol
, vol.3
, pp. 37-40
-
-
Rezaei, N.1
Farhoudi, A.2
Pourpak, Z.3
Aghamohammadi, A.4
Ramyar, A.5
Moin, M.6
-
57
-
-
24944566743
-
A comparison of the defective granulopoiesis in childhood cyclic neutropenia and in severe congenital neutropenia
-
Y. Sera, H. Kawaguchi, K. Nakamura, T. Sato, M. Habara, S. Okada, et al. A comparison of the defective granulopoiesis in childhood cyclic neutropenia and in severe congenital neutropenia. Haematologica 90: 1032-1041, 2005. (Pubitemid 41323502)
-
(2005)
Haematologica
, vol.90
, Issue.8
, pp. 1032-1041
-
-
Sera, Y.1
Kawaguchi, H.2
Nakamura, K.3
Sato, T.4
Habara, M.5
Okada, S.6
Ishikawa, N.7
Kojima, S.8
Katoh, O.9
Kobayashi, M.10
-
58
-
-
33847395071
-
Neutrophil elastase in cyclic and severe congenital neutropenia
-
DOI 10.1182/blood-2006-08-019166
-
M.S. Horwitz, Z. Duan, B. Korkmaz, H.H. Lee, M.E. Mealiffe, and S.J. Salipante. Neutrophil elastase in cyclic and severe congenital neutropenia. Blood 109: 1817- 1824, 2007. (Pubitemid 46348175)
-
(2007)
Blood
, vol.109
, Issue.5
, pp. 1817-1824
-
-
Horwitz, M.S.1
Duan, Z.2
Korkmaz, B.3
Lee, H.-H.4
Mealiffe, M.E.5
Salipante, S.J.6
-
59
-
-
0032757863
-
Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis
-
M. Horwitz, K.F. Benson, R.E. Person, A.G. Aprikyan, and D.C. Dale. Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis. Nat Genet 23: 433-436, 1999.
-
(1999)
Nat Genet
, vol.23
, pp. 433-436
-
-
Horwitz, M.1
Benson, K.F.2
Person, R.E.3
Aprikyan, A.G.4
Dale, D.C.5
-
60
-
-
0029929155
-
Haematological abnormalities in Shwachman-Diamond syndrome
-
O.P. Smith, I.M. Hann, J.M. Chessells, B.R. Reeves, and P. Milla. Haematological abnormalities in Shwachman-Diamond syndrome. Br J Haematol 94: 279-284, 1996. (Pubitemid 26247985)
-
(1996)
British Journal of Haematology
, vol.94
, Issue.2
, pp. 279-284
-
-
Smith, O.P.1
Hann, I.M.2
Chessells, J.M.3
Reeves, B.R.4
Milla, P.5
-
61
-
-
0036325553
-
Clonal evolution in marrows of patients with Shwachman-Diamond syndrome: A prospective 5-year follow-up study
-
DOI 10.1016/S0301-472X(02)00815-9, PII S0301472X02008159
-
Y. Dror, P. Durie, H. Ginzberg, R. Herman, A. Banerjee, M. Champagne, et al. Clonal evolution in marrows of patients with Shwachman-Diamond syndrome: A prospective 5-year follow-up study. Exp Hematol 30: 659-669, 2002. (Pubitemid 34835684)
-
(2002)
Experimental Hematology
, vol.30
, Issue.7
, pp. 659-669
-
-
Dror, Y.1
Durie, P.2
Ginzberg, H.3
Herman, R.4
Banerjee, A.5
Champagne, M.6
Shannon, K.7
Malkin, D.8
Freedman, M.H.9
-
62
-
-
0033497428
-
Shwachman syndrome: Phenotypic manifestations of sibling sets and isolated cases in a large patient cohort are similar
-
H. Ginzberg, J. Shin, L. Ellis, J. Morrison, W. Ip, Y. Dror, et al. Shwachman syndrome: Phenotypic manifestations of sibling sets and isolated cases in a large patient cohort are similar. J Pediatr 135: 81-88, 1999. (Pubitemid 30180567)
-
(1999)
Journal of Pediatrics
, vol.135
, Issue.1
, pp. 81-88
-
-
Ginzberg, H.1
Shin, J.2
Ellis, L.3
Morrison, J.4
Ip, W.5
Dror, Y.6
Freedman, M.7
Heitlinger, L.A.8
Belt, M.A.9
Corey, M.10
Rommens, J.M.11
Durie, P.R.12
-
63
-
-
27644511287
-
Shwachman-Diamond syndrome
-
DOI 10.1002/pbc.20478
-
Y. Dror. Shwachman-Diamond syndrome. Pediatr Blood Cancer 45: 892-901, 2005. (Pubitemid 41552156)
-
(2005)
Pediatric Blood and Cancer
, vol.45
, Issue.7
, pp. 892-901
-
-
Dror, Y.1
-
64
-
-
0036214084
-
Shwachman-Diamond syndrome
-
O.P. Smith. Shwachman-Diamond syndrome. Semin Hematol 39: 95-102, 2002. (Pubitemid 34298832)
-
(2002)
Seminars in Hematology
, vol.39
, Issue.2
, pp. 95-102
-
-
Smith, O.P.1
-
65
-
-
33745502895
-
Shwachman-Diamond Syndrome
-
DOI 10.1053/j.seminhematol.2006.04.006, PII S0037196306000801, Constitutional Marrow Failure
-
A. Shimamura. Shwachman-Diamond syndrome. Semin Hematol 43: 178-188, 2006. (Pubitemid 43963505)
-
(2006)
Seminars in Hematology
, vol.43
, Issue.3
, pp. 178-188
-
-
Shimamura, A.1
-
66
-
-
0025675849
-
Psychological characteristics of children with Shwachman syndrome
-
A. Kent, G.H. Murphy, and P. Milla. Psychological characteristics of children with Shwachman syndrome. Arch Dis Child 65: 1349-1352, 1990.
-
(1990)
Arch Dis Child
, vol.65
, pp. 1349-1352
-
-
Kent, A.1
Murphy, G.H.2
Milla, P.3
-
67
-
-
0018934437
-
Shwachman's syndrome. A review of 21 cases
-
P.J. Aggett,N.P. Cavanagh,D.J.Matthew, J.R. Pincott, J. Sutcliffe, and J.T. Harries. Shwachman's syndrome. A review of 21 cases. Arch Dis Child 55: 331-347, 1980.
-
(1980)
Arch Dis Child
, vol.55
, pp. 331-347
-
-
Aggett, P.J.1
Cavanagh, N.P.2
Matthew, D.J.3
Pincott, J.R.4
Sutcliffe, J.5
Harries, J.T.6
-
68
-
-
0037229094
-
Mutations in SBDS are associated with Shwachman-Diamond syndrome
-
DOI 10.1038/ng1062
-
G.R. Boocock, J.A. Morrison, M. Popovic, N. Richards, L. Ellis, P.R. Durie, and J.M. Rommens. Mutations in SBDS are associated with Shwachman-Diamond syndrome. Nat Genet 33: 97-101, 2003. (Pubitemid 36068690)
-
(2003)
Nature Genetics
, vol.33
, Issue.1
, pp. 97-101
-
-
Boocock, G.R.B.1
Morrison, J.A.2
Popovic, M.3
Richards, N.4
Ellis, L.5
Durie, P.R.6
Rommens, J.M.7
-
69
-
-
41849120845
-
Mitotic spindle destabilization and genomic instability in Shwachman-Diamond syndrome
-
DOI 10.1172/JCI33764
-
K.M. Austin, M.L. Gupta, S.A. Coats, A. Tulpule, G. Mostoslavsky, A.B. Balazs, et al. Mitotic spindle destabilization and genomic instability in Shwachman- Diamond syndrome. J Clin Invest 118: 1511-1518, 2008. (Pubitemid 351500444)
-
(2008)
Journal of Clinical Investigation
, vol.118
, Issue.4
, pp. 1511-1518
-
-
Austin, K.M.1
Gupta Jr., M.L.2
Coats, S.A.3
Tulpule, A.4
Mostoslavsky, G.5
Balazs, A.B.6
Mulligan, R.C.7
Daley, G.8
Pellman, D.9
Shimamura, A.10
-
70
-
-
42049099544
-
Ribosomal dysfunction and inherited marrow failure
-
DOI 10.1111/j.1365-2141.2008.07095.x
-
K.A. Ganapathi and A. Shimamura. Ribosomal dysfunction and inherited marrow failure. Br J Haematol 141: 376-387, 2008. (Pubitemid 351521153)
-
(2008)
British Journal of Haematology
, vol.141
, Issue.3
, pp. 376-387
-
-
Ganapathi, K.A.1
Shimamura, A.2
-
71
-
-
0015416522
-
Defective granule formation and function in the Chediak-Higashi syndrome in man and animals
-
W.C. Davis and S.D. Douglas. Defective granule formation and function in the Chediak-Higashi syndrome in man and animals. Semin Hematol 9: 431-450, 1972.
-
(1972)
Semin Hematol
, vol.9
, pp. 431-450
-
-
Davis, W.C.1
Douglas, S.D.2
-
72
-
-
0019946730
-
+) cells in Chediak-Higashi patients are present in normal numbers but are abnormal in function and morphology
-
T. Abo, J.C. Roder, W. Abo, M.D. Cooper, and C.M. Balch. Natural killer (HNK-1+) cells in Chediak-Higashi patients are present in normal numbers but are abnormal in function and morphology. J Clin Invest 70: 193-197, 1982. (Pubitemid 12090839)
-
(1982)
Journal of Clinical Investigation
, vol.70
, Issue.1
, pp. 193-197
-
-
Abo, T.1
Roder, J.C.2
Abo, W.3
-
73
-
-
0034330540
-
Analysis of the lysosomal storage disease Chediak-Higashi syndrome
-
D.M. Ward, G.M. Griffiths, J.C. Stinchcombe, and J. Kaplan. Analysis of the lysosomal storage disease Chediak-Higashi syndrome. Traffic 1: 816-822, 2000.
-
(2000)
Traffic
, vol.1
, pp. 816-822
-
-
Ward, D.M.1
Griffiths, G.M.2
Stinchcombe, J.C.3
Kaplan, J.4
-
74
-
-
0035990979
-
Chediak-Higashi syndrome: A clinical and molecular view of a rare lysosomal storage disorder
-
DOI 10.2174/1566524023362339
-
D.M.Ward, S.L. Shiflett, and J. Kaplan. Chediak-Higashi syndrome: A clinical and molecular view of a rare lysosomal storage disorder. Curr Mol Med 2: 469-477, 2002. (Pubitemid 34760029)
-
(2002)
Current Molecular Medicine
, vol.2
, Issue.5
, pp. 469-477
-
-
Ward, D.M.1
Shiflett, S.L.2
Kaplan, J.3
-
75
-
-
12944277163
-
Protein truncation test of LYST reveals heterogenous mutations in patients with Chediak-Higashi syndrome
-
S. Certain, F. Barrat, E. Pastural, F. Le Deist, J. Goyo-Rivas, N. Jabado, et al. Protein truncation test of LYST reveals heterogenous mutations in patients with Chediak-Higashi syndrome. Blood 95: 979-983, 2000. (Pubitemid 30062721)
-
(2000)
Blood
, vol.95
, Issue.3
, pp. 979-983
-
-
Certain, S.1
Barrat, F.2
Pastural, E.3
Le Deist, F.4
Goyo-Rivas, J.5
Jabado, N.6
Benkerrou, M.7
Seger, R.8
Vilmer, E.9
Beullier, G.10
Schwarz, K.11
Fischer, A.12
De Saint Basile, G.13
-
76
-
-
0027936741
-
On the analysis of the pathophysiology of Chediak-Higashi syndrome: Defects expressed by cultured melanocytes
-
H. Zhao, Y.L. Boissy, Z. Abdel-Malek, R.A. King, J.J. Nordlund, and R.E. Boissy. On the analysis of the pathophysiology of Chediak-Higashi syndrome. Defects expressed by cultured melanocytes. Lab Invest 71: 25-34, 1994. (Pubitemid 24246018)
-
(1994)
Laboratory Investigation
, vol.71
, Issue.1
, pp. 25-34
-
-
Zhao, H.1
Boissy, Y.L.2
Abdel-Malek, Z.3
King, R.A.4
Nordlund, J.J.5
Boissy, R.E.6
-
77
-
-
8544220356
-
Identification of mutations in two major mRNA isoforms of the Chediak-Higashi syndrome gene in human and mouse
-
DOI 10.1093/hmg/6.7.1091
-
M.D. Barbosa, F.J. Barrat, V.T. Tchernev, Q.A. Nguyen, V.S. Mishra, S.D. Colman, et al. Identification of mutations in two major mRNA isoforms of the Chediak- Higashi syndrome gene in human and mouse. Hum Mol Genet 6: 1091-1098, 1997. (Pubitemid 27308395)
-
(1997)
Human Molecular Genetics
, vol.6
, Issue.7
, pp. 1091-1098
-
-
Barbosa, M.D.F.S.1
Barrat, F.J.2
Tchernev, V.T.3
Nguyen, Q.A.4
Mishra, V.S.5
Colman, S.D.6
Pastural, E.7
Dufourcq-Lagelouse, R.8
Fischer, A.9
Holcombe, R.F.10
Wallace, M.R.11
Brandt, S.J.12
De Saint Basile, G.13
Kingsmore, S.F.14
-
78
-
-
0141741403
-
Lytic granules, secretory lysosomes and disease
-
DOI 10.1016/S0952-7915(03)00113-4
-
R. Clark and G.M. Griffiths. Lytic granules, secretory lysosomes and disease. Curr Opin Immunol 15: 516-521, 2003. (Pubitemid 37130191)
-
(2003)
Current Opinion in Immunology
, vol.15
, Issue.5
, pp. 516-521
-
-
Clark, R.1
Griffiths, G.M.2
-
79
-
-
36549007777
-
Chediak-Higashi syndrome
-
DOI 10.1097/MOH.0b013e3282f2bcce, PII 0006275220080100000005
-
J. Kaplan, I. De Domenico, and D.M.Ward. Chediak-Higashi syndrome. Curr Opin Hematol 15: 22-29, 2008. (Pubitemid 350191025)
-
(2008)
Current Opinion in Hematology
, vol.15
, Issue.1
, pp. 22-29
-
-
Kaplan, J.1
De Domenico, I.2
Ward, D.M.3
-
81
-
-
0018086099
-
A syndrome associating partial albinism and immunodeficiency
-
C. Griscelli, A. Durandy, D. Guy-Grand, F. Daguillard, C. Herzog, and M. Prunieras. A syndrome associating partial albinism and immunodeficiency. Am J Med 65: 691-702, 1978. (Pubitemid 9039527)
-
(1978)
American Journal of Medicine
, vol.65
, Issue.4
, pp. 691-702
-
-
Griscelli, C.1
Durandy, A.2
Guy-Grand, D.3
-
82
-
-
12944255844
-
A mutation in Rab27a causes the vesicle transport defects observed in ashen mice
-
DOI 10.1073/pnas.140212797
-
S.M. Wilson, R. Yip, D.A. Swing, T.N. O'Sullivan, Y. Zhang, E.K. Novak, et al. A mutation in Rab27a causes the vesicle transport defects observed in ashen mice. Proc Natl Acad Sci U S A 97: 7933-7938, 2000. (Pubitemid 30460751)
-
(2000)
Proceedings of the National Academy of Sciences of the United States of America
, vol.97
, Issue.14
, pp. 7933-7938
-
-
Wilson, S.M.1
Yip, R.2
Swing, D.A.3
O'Sullivan, T.N.4
Zhang, Y.5
Novak, E.K.6
Swank, R.T.7
Russell, L.B.8
Copeland, N.G.9
Jenkins, N.A.10
-
83
-
-
0035911160
-
Rab27a is required for regulated secretion in cytotoxic T lymphocytes
-
J.C. Stinchcombe, D.C. Barral, E.H. Mules, S. Booth, A.N. Hume, L.M. Machesky, et al. Rab27a is required for regulated secretion in cytotoxic T lymphocytes. J Cell Biol 152: 825-834, 2001.
-
(2001)
J Cell Biol
, vol.152
, pp. 825-834
-
-
Stinchcombe, J.C.1
Barral, D.C.2
Mules, E.H.3
Booth, S.4
Hume, A.N.5
MacHesky, L.M.6
-
84
-
-
33847754590
-
Rab27a is a key component of the secretory machinery of azurophilic granules in granulocytes
-
DOI 10.1042/BJ20060950
-
D.B. Munafo, J.L. Johnson, B.A. Ellis, S. Rutschmann, B. Beutler, and S.D. Catz. Rab27a is a key component of the secretory machinery of azurophilic granules in granulocytes. Biochem J 402: 229-239, 2007. (Pubitemid 46383420)
-
(2007)
Biochemical Journal
, vol.402
, Issue.2
, pp. 229-239
-
-
Munafo, D.B.1
Johnson, J.L.2
Ellis, B.A.3
Rutschmann, S.4
Beutler, B.5
Catz, S.D.6
-
85
-
-
0034177476
-
A new variant of Hermansky-Pudlak syndrome due to mutations in a gene responsible for vesicle formation
-
DOI 10.1016/S0002-9343(99)00436-2, PII S0002934399004362
-
V. Shotelersuk, E.C. Dell'Angelica, L. Hartnell, J.S. Bonifacino, and W.A. Gahl. A new variant of Hermansky-Pudlak syndrome due to mutations in a gene responsible for vesicle formation. Am J Med 108: 423-427, 2000. (Pubitemid 30162963)
-
(2000)
American Journal of Medicine
, vol.108
, Issue.5
, pp. 423-427
-
-
Shotelersuk, V.1
Dell'Angelica, E.C.2
Hartnell, L.3
Bonifacino, J.S.4
Gahl, W.A.5
-
86
-
-
0036157244
-
Nonsense mutations in ADTB3A cause complete deficiency of the β3A subunit of adaptor complex-3 and severe Hermansky-Pudlak syndrome type 2
-
M. Huizing, C.D. Scher, E. Strovel, D.L. Fitzpatrick, L.M. Hartnell, Y. Anikster, and W.A. Gahl. Nonsense mutations in ADTB3A cause complete deficiency of the beta3A subunit of adaptor complex-3 and severe Hermansky-Pudlak syndrome type 2. Pediatr Res 51: 150-158, 2002. (Pubitemid 34101328)
-
(2002)
Pediatric Research
, vol.51
, Issue.2
, pp. 150-158
-
-
Huizing, M.1
Scher, C.D.2
Strovel, E.3
Fitzpatrick, D.L.4
Hartnell, L.M.5
Anikster, Y.6
Gahl, W.A.7
-
87
-
-
0242539818
-
Adaptor protein 3-dependent microtubule-mediated movement of lytic granules to the immunological synapse
-
DOI 10.1038/ni1000
-
R.H. Clark, J.C. Stinchcombe, A. Day, E. Blott, S. Booth, G. Bossi, et al. Adaptor protein 3-dependent microtubule-mediated movement of lytic granules to the immunological synapse. Nat Immunol 4: 1111-1120, 2003. (Pubitemid 37428039)
-
(2003)
Nature Immunology
, vol.4
, Issue.11
, pp. 1111-1120
-
-
Clark, R.H.1
Stinchcombe, J.C.2
Day, A.3
Blott, E.4
Booth, S.5
Bossi, G.6
Hamblin, T.7
Davies, E.G.8
Griffiths, G.M.9
-
88
-
-
33745083115
-
Innate immunity defects in Hermansky-Pudlak type 2 syndrome
-
DOI 10.1182/blood-2005-11-4398
-
S. Fontana, S. Parolini, W. Vermi, S. Booth, F. Gallo, M. Donini, et al. Innate immunity defects in Hermansky-Pudlak type 2 syndrome. Blood 107: 4857-4864, 2006. (Pubitemid 43882638)
-
(2006)
Blood
, vol.107
, Issue.12
, pp. 4857-4864
-
-
Fontana, S.1
Parolini, S.2
Vermi, W.3
Booth, S.4
Gallo, F.5
Donini, M.6
Benassi, M.7
Gentili, F.8
Ferrari, D.9
Notarangelo, L.D.10
Cavadini, P.11
Marcenaro, E.12
Dusi, S.13
Cassatella, M.14
Facchetti, F.15
Griffiths, G.M.16
Moretta, A.17
Notarangelo, L.D.18
Badolato, R.19
-
89
-
-
33745597347
-
Identification of a homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2
-
DOI 10.1182/blood-2005-11-4377
-
J. Jung, G. Bohn, A. Allroth, K. Boztug, G. Brandes, I. Sandrock, et al. Identification of a homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2. Blood 108: 362-369, 2006. (Pubitemid 43990650)
-
(2006)
Blood
, vol.108
, Issue.1
, pp. 362-369
-
-
Jung, J.1
Bohn, G.2
Allroth, A.3
Boztug, K.4
Brandes, G.5
Sandrock, I.6
Schaffer, A.A.7
Rathinam, C.8
Kollner, I.9
Beger, C.10
Schilke, R.11
Welte, K.12
Grimbacher, B.13
Klein, C.14
-
90
-
-
3042793578
-
Linking albinism and immunity: The secrets of secretory lysosomes
-
DOI 10.1126/science.1095291
-
J. Stinchcombe, G. Bossi, and G.M. Griffiths. Linking albinism and immunity: the secrets of secretory lysosomes. Science 305: 55-59, 2004. (Pubitemid 38869367)
-
(2004)
Science
, vol.305
, Issue.5680
, pp. 55-59
-
-
Stinchcombe, J.1
Bossi, G.2
Giffiths, G.M.3
-
91
-
-
0035990977
-
Disorders of vesicles of lysosomal lineage: The Hermansky-Pudlak syndromes
-
DOI 10.2174/1566524023362357
-
M. Huizing and W.A. Gahl. Disorders of vesicles of lysosomal lineage: The Hermansky-Pudlak syndromes. Curr Mol Med 2: 451-467, 2002. (Pubitemid 34760028)
-
(2002)
Current Molecular Medicine
, vol.2
, Issue.5
, pp. 451-467
-
-
Huizing, M.1
Gahl, W.A.2
-
92
-
-
34948856458
-
Novel insights from adaptor protein 3 complex deficiency
-
DOI 10.1016/j.jaci.2007.08.039, PII S0091674907016375
-
R. Badolato and S. Parolini. Novel insights from adaptor protein 3 complex deficiency. J Allergy Clin Immunol 120: 735-741; quiz 742-733, 2007. (Pubitemid 47531859)
-
(2007)
Journal of Allergy and Clinical Immunology
, vol.120
, Issue.4
, pp. 735-741
-
-
Badolato, R.1
Parolini, S.2
-
93
-
-
9644275363
-
CTL secretory lysosomes: Biogenesis and secretion of a harmful organelle
-
DOI 10.1016/j.smim.2004.09.007, PII S1044532304000624, Spacial Organization in Immune Cell Signaling
-
G. Bossi and G.M. Griffiths. CTL secretory lysosomes: Biogenesis and secretion of a harmful organelle. Semin Immunol 17: 87-94, 2005. (Pubitemid 39575984)
-
(2005)
Seminars in Immunology
, vol.17
, Issue.1
, pp. 87-94
-
-
Bossi, G.1
Griffiths, G.M.2
-
94
-
-
33846109356
-
A novel human primary immunodeficiency syndrome caused by deficiency of the endosomal adaptor protein p14
-
DOI 10.1038/nm1528, PII NM1528
-
G. Bohn, A. Allroth, G. Brandes, J. Thiel, E. Glocker, A.A. Schaffer, et al. A novel human primary immunodeficiency syndrome caused by deficiency of the endosomal adaptor protein p14. Nat Med 13: 38-45, 2007. (Pubitemid 46067384)
-
(2007)
Nature Medicine
, vol.13
, Issue.1
, pp. 38-45
-
-
Bohn, G.1
Allroth, A.2
Brandes, G.3
Thiel, J.4
Glocker, E.5
Schaffer, A.A.6
Rathinam, C.7
Taub, N.8
Teis, D.9
Zeidler, C.10
Dewey, R.A.11
Geffers, R.12
Buer, J.13
Huber, L.A.14
Welte, K.15
Grimbacher, B.16
Klein, C.17
-
95
-
-
79251486129
-
Genetic disorders of immune regulation
-
N. Rezaei, A. Aghamohammadi, and L.D. Notarangelo (Eds.). Berlin Heidelberg: Springer-Verlag
-
C. Speckmann, J. Rohr, and S. Ehl. Genetic disorders of immune regulation. In: N. Rezaei, A. Aghamohammadi, and L.D. Notarangelo (Eds.). Primary Immunodeficiency Diseases: Definition, Diagnosis and Management. Berlin Heidelberg: Springer-Verlag, pp. 167-194, 2008.
-
(2008)
Primary Immunodeficiency Diseases: Definition, Diagnosis and Management
, pp. 167-194
-
-
Speckmann, C.1
Rohr, J.2
Ehl, S.3
-
96
-
-
33845709128
-
P14-MP1-MEK1 signaling regulates endosomal traffic and cellular proliferation during tissue homeostasis
-
DOI 10.1083/jcb.200607025
-
D. Teis, N. Taub, R. Kurzbauer, D. Hilber, M.E. de Araujo, M. Erlacher, et al. p14-MP1-MEK1 signaling regulates endosomal traffic and cellular proliferation during tissue homeostasis. J Cell Biol 175: 861-868, 2006. (Pubitemid 44969192)
-
(2006)
Journal of Cell Biology
, vol.175
, Issue.6
, pp. 861-868
-
-
Teis, D.1
Taub, N.2
Kurzbauer, R.3
Hilber, D.4
De Araujo, M.E.5
Erlacher, M.6
Offterdinger, M.7
Villunger, A.8
Geley, S.9
Bohn, G.10
Klein, C.11
Hess, M.W.12
Huber, L.A.13
-
97
-
-
0034709124
-
WHIM syndrome, an autosomal dominant disorder: Clinical, hematological, and molecular studies
-
DOI 10.1002/(SICI)1096-8628(20000424)91: 5<368::AID-AJMG10>3.0. CO;2-9
-
R.J. Gorlin, B. Gelb, G.A. Diaz, K.G. Lofsness, M.R. Pittelkow, and J.R. Fenyk, Jr. WHIM syndrome, an autosomal dominant disorder: clinical, hematological, and molecular studies. Am J Med Genet 91: 368-376, 2000. (Pubitemid 30193934)
-
(2000)
American Journal of Medical Genetics
, vol.91
, Issue.5
, pp. 368-376
-
-
Gorlin, R.J.1
Gelb, B.2
Diaz, G.A.3
Lofsness, K.G.4
Pittelkow, M.R.5
Fenyk Jr., J.R.6
-
98
-
-
0033972915
-
Myelokathexis, a congenital disorder of severe neutropenia characterized by accelerated apoptosis and defective expression of bcl-x in neutrophil precursors
-
A.A. Aprikyan, W.C. Liles, J.R. Park, M. Jonas, E.Y. Chi, and D.C. Dale. Myelokathexis, a congenital disorder of severe neutropenia characterized by accelerated apoptosis and defective expression of bcl-x in neutrophil precursors. Blood 95: 320-327, 2000. (Pubitemid 30017259)
-
(2000)
Blood
, vol.95
, Issue.1
, pp. 320-327
-
-
Aprikyan, A.A.G.1
Liles, W.C.2
Park, J.R.3
Jonas, M.4
Chi, E.Y.5
Dale, D.C.6
-
100
-
-
3442884110
-
WHIM syndrome: A genetic disorder of leukocyte trafficking
-
DOI 10.1097/00130832-200312000-00005
-
A.V. Gulino. WHIM syndrome: A genetic disorder of leukocyte trafficking. Curr Opin Allergy Clin Immunol 3: 443-450, 2003. (Pubitemid 39157331)
-
(2003)
Current Opinion in Allergy and Clinical Immunology
, vol.3
, Issue.6
, pp. 443-450
-
-
Gulino, A.V.1
-
101
-
-
33644882232
-
The WHIM syndrome shows a peculiar dysgranulopoiesis: Myelokathexis
-
DOI 10.1111/j.1365-2141.2005.05908.x
-
V. Latger-Cannard, D. Bensoussan, and P. Bordigoni. The WHIM syndrome shows a peculiar dysgranulopoiesis: Myelokathexis. Br J Haematol 132: 669, 2006. (Pubitemid 43381628)
-
(2006)
British Journal of Haematology
, vol.132
, Issue.6
, pp. 669
-
-
Latger-Cannard, V.1
Bensoussan, D.2
Bordigoni, P.3
-
102
-
-
0025123316
-
A new familial immunodeficiency disorder characterized by severe neutropenia, a defective marrow release mechanism, and hypogammaglobulinemia
-
DOI 10.1016/0002-9343(90)90187-I
-
M.Wetzler, M. Talpaz, E.S. Kleinerman, A. King, Y.O. Huh, J.U. Gutterman, and R. Kurzrock. A new familial immunodeficiency disorder characterized by severe neutropenia, a defective marrow release mechanism, and hypogammaglobulinemia. Am J Med 89: 663-672, 1990. (Pubitemid 20384326)
-
(1990)
American Journal of Medicine
, vol.89
, Issue.5
, pp. 663-672
-
-
Wetzler, M.1
Talpaz, M.2
Kleinerman, E.S.3
King, A.4
Huh, Y.O.5
Gutterman, J.U.6
Kurzrock, R.7
-
103
-
-
20144372356
-
WHIM syndromes with different genetic anomalies are accounted for by impaired CXCR4 desensitization to CXCL12
-
DOI 10.1182/blood-2004-06-2289
-
K. Balabanian, B. Lagane, J.L. Pablos, L. Laurent, T. Planchenault, O. Verola, et al. WHIM syndromes with different genetic anomalies are accounted for by impaired CXCR4 desensitization to CXCL12. Blood 105: 2449-2457, 2005. (Pubitemid 40387045)
-
(2005)
Blood
, vol.105
, Issue.6
, pp. 2449-2457
-
-
Balabanian, K.1
Lagane, B.2
Pablos, J.L.3
Laurent, L.4
Planchenault, T.5
Verola, O.6
Lebbe, C.7
Kerob, D.8
Dupuy, A.9
Hermine, O.10
Nicolas, J.-F.11
Latger-Cannard, V.12
Bensoussan, D.13
Bordigoni, P.14
Baleux, F.15
Le Deist, F.16
Virelizier, J.-L.17
Arenzana-Seisdedos, F.18
Bachelerie, F.19
-
104
-
-
0037438505
-
Role of the intracellular domains of CXCR4 in SDF-1-mediated signaling
-
DOI 10.1182/blood-2002-03-0978
-
J. Roland, B.J. Murphy, B. Ahr, V. Robert-Hebmann, V. Delauzun, K.E. Nye, et al. Role of the intracellular domains of CXCR4 in SDF-1-mediated signaling. Blood 101: 399-406, 2003. (Pubitemid 36077555)
-
(2003)
Blood
, vol.101
, Issue.2
, pp. 399-406
-
-
Roland, J.1
Murphy, B.J.2
Ahr, B.3
Robert-Hebmann, V.4
Delauzun, V.5
Nye, K.E.6
Devaux, C.7
Biard-Piechaczyk, M.8
-
105
-
-
0142188265
-
Chemokines acting via CXCR2 and CXCR4 control the release of neutrophils from the bone marrow and their return following senescence
-
DOI 10.1016/S1074-7613(03)00263-2
-
C. Martin, P.C. Burdon, G. Bridger, J.C. Gutierrez-Ramos, T.J. Williams, and S.M. Rankin. Chemokines acting via CXCR2 and CXCR4 control the release of neutrophils from the bone marrow and their return following senescence. Immunity 19: 583-593, 2003. (Pubitemid 37311439)
-
(2003)
Immunity
, vol.19
, Issue.4
, pp. 583-593
-
-
Martin, C.1
Burdon, P.C.E.2
Bridger, G.3
Gutierrez-Ramos, J.-C.4
Williams, T.J.5
Rankin, S.M.6
-
106
-
-
3142593911
-
Role of the CXCR4/SDF-1 chemokine axis in circulating neutrophil homeostasis
-
DOI 10.1182/blood-2003-10-3638
-
B.T. Suratt, J.M. Petty, S.K. Young, K.C. Malcolm, J.G. Lieber, J.A. Nick, et al. Role of the CXCR4/SDF-1 chemokine axis in circulating neutrophil homeostasis. Blood 104: 565-571, 2004. (Pubitemid 38900043)
-
(2004)
Blood
, vol.104
, Issue.2
, pp. 565-571
-
-
Suratt, B.T.1
Petty, J.M.2
Young, S.K.3
Malcolm, K.C.4
Lieber, J.G.5
Nick, J.A.6
Gonzalo, J.-A.7
Henson, P.M.8
Worthen, G.S.9
-
107
-
-
0036800086
-
G-CSF is an essential regulator of neutrophil trafficking from the bone marrow to the blood
-
DOI 10.1016/S1074-7613(02)00424-7
-
C.L. Semerad, F. Liu, A.D. Gregory, K. Stumpf, andD.C. Link. G-CSF is an essential regulator of neutrophil trafficking from the bone marrow to the blood. Immunity 17: 413-423, 2002. (Pubitemid 35223531)
-
(2002)
Immunity
, vol.17
, Issue.4
, pp. 413-423
-
-
Semerad, C.L.1
Liu, F.2
Gregory, A.D.3
Stumpf, K.4
Link, D.C.5
-
108
-
-
0037013221
-
Leukocyte elastase negatively regulates stromal cell-derived factor-1 (SDF-1)/CXCR4 binding and functions by amino-terminal processing of SDF-1 and CXCR4
-
DOI 10.1074/jbc.M111388200
-
A. Valenzuela-Fernandez, T. Planchenault, F. Baleux, I. Staropoli, K. Le-Barillec, D. Leduc, et al. Leukocyte elastase negatively regulates stromal cell-derived factor- 1 (SDF-1]/CXCR4 binding and functions by amino-terminal processing of SDF-1 and CXCR4. J Biol Chem 277: 15677-15689, 2002. (Pubitemid 34967841)
-
(2002)
Journal of Biological Chemistry
, vol.277
, Issue.18
, pp. 15677-15689
-
-
Valenzuela-Fernandez, A.1
Planchenault, T.2
Baleux, F.3
Staropoli, I.4
Le-Barillec, K.5
Leduc, D.6
Delaunay, T.7
Lazarini, F.8
Virelizier, J.-L.9
Chignard, M.10
Pidard, D.11
Arenzana-Seisdedos, F.12
-
110
-
-
0027462664
-
Defective expression of the CD40 ligand in X chromosome-linked immunoglobulin deficiency with normal or elevated IgM
-
R. Fuleihan, N. Ramesh, R. Loh, H. Jabara, R.S. Rosen, T. Chatila, et al. Defective expression of the CD40 ligand in X chromosome-linked immunoglobulin deficiency with normal or elevated IgM. Proc Natl Acad Sci U S A 90: 2170-2173, 1993. (Pubitemid 23078587)
-
(1993)
Proceedings of the National Academy of Sciences of the United States of America
, vol.90
, Issue.6
, pp. 2170-2173
-
-
Fuleihan, R.1
Ramesh, N.2
Loh, R.3
Jabara, H.4
Rosen, F.S.5
Chatila, T.6
-
111
-
-
0030702854
-
Clinical spectrum of X-linked hyper-IgM syndrome
-
DOI 10.1016/S0022-3476(97)70123-9
-
J. Levy, T. Espanol-Boren, C. Thomas, A. Fischer, P. Tovo, P. Bordigoni, et al. Clinical spectrum of X-linked hyper-IgM syndrome. J Pediatr 131: 47-54, 1997. (Pubitemid 27498308)
-
(1997)
Journal of Pediatrics
, vol.131
, Issue.1
, pp. 47-54
-
-
Levy, J.1
Espanol-Boren, T.2
Thomas, C.3
Fischer, A.4
Tovo, P.5
Bordigoni, P.6
Resnick, I.7
Fasth, A.8
Baer, M.9
Gomez, L.10
Sanders, E.A.M.11
Tabone, M.-D.12
Plantaz, D.13
Etzioni, A.14
Monafo, V.15
Abinun, M.16
Hammarstrom, L.17
Abrahamsen, T.18
Jones, A.19
Finn, A.20
Klemola, T.21
DeVries, E.22
Sanal, O.23
Peitsch, M.C.24
Notarangelo, L.D.25
more..
-
112
-
-
54249089840
-
Severe congenital neutropenia or hyper-IgM syndrome? A novel mutation of CD40 ligand in a patient with severe neutropenia
-
N. Rezaei, A. Aghamohammadi, A. Ramyar, Q. Pan-Hammarstrom, and L. Hammarstrom. Severe congenital neutropenia or hyper-IgM syndrome? A novel mutation of CD40 ligand in a patient with severe neutropenia. Int Arch Allergy Immunol 147: 255-259, 2008.
-
(2008)
Int Arch Allergy Immunol
, vol.147
, pp. 255-259
-
-
Rezaei, N.1
Aghamohammadi, A.2
Ramyar, A.3
Pan-Hammarstrom, Q.4
Hammarstrom, L.5
-
113
-
-
0031567974
-
Cholangiopathy and Tumors of the Pancreas, Liver, and Biliary Tree in Boys with X-Linked Immunodeficiency with Hyper-IgM
-
A.R. Hayward, J. Levy, F. Facchetti, L. Notarangelo, H.D. Ochs, A. Etzioni, et al. Cholangiopathy and tumors of the pancreas, liver, and biliary tree in boys with X-linked immunodeficiency with hyper-IgM. J Immunol 158: 977-983, 1997. (Pubitemid 127492679)
-
(1997)
Journal of Immunology
, vol.158
, Issue.2
, pp. 977-983
-
-
Hayward, A.R.1
Levy, J.2
Facchetti, F.3
Notarangelo, L.4
Ochs, H.D.5
Etzioni, A.6
Bonnefoy, J.-Y.7
Cosyns, M.8
Weinberg, A.9
-
114
-
-
34547839687
-
X-linked hyper-IgM syndrome associated with poorly differentiated neuroendocrine tumor presenting as obstructive jaundice secondary to extensive adenopathy
-
DOI 10.1007/s10620-006-9702-3
-
N. Nagaraj, C. Egwim, and D.G. Adler. X-linked hyper-IgM syndrome associated with poorly differentiated neuroendocrine tumor presenting as obstructive jaundice secondary to extensive adenopathy. Dig Dis Sci 52: 2312-2316, 2007. (Pubitemid 47246521)
-
(2007)
Digestive Diseases and Sciences
, vol.52
, Issue.9
, pp. 2312-2316
-
-
Nagaraj, N.1
Egwim, C.2
Adler, D.G.3
-
115
-
-
0027394391
-
The CD40 ligand, gp39, is defective in activated T cells from patients with X-linked hyper-IgM syndrome
-
DOI 10.1016/0092-8674(93)90668-G
-
A. Aruffo, M. Farrington, D. Hollenbaugh, X. Li, A. Milatovich, S. Nonoyama, et al. The CD40 ligand, gp39, is defective in activated T cells from patients with X-linked hyper-IgM syndrome. Cell 72: 291-300, 1993. (Pubitemid 23044943)
-
(1993)
Cell
, vol.72
, Issue.2
, pp. 291-300
-
-
Aruffo, A.1
Farrington, M.2
Hollenbaugh, D.3
Li, X.4
Milatovich, A.5
Nonoyama, S.6
Bajorath, J.7
Grosmaire, L.S.8
Stenkamp, R.9
Neubauer, M.10
Roberts, R.L.11
Noelle, R.J.12
Ledbetter, J.A.13
Francke, U.14
Ochs, H.D.15
-
116
-
-
0028183402
-
Defective expression of CD40 ligand on T cells causes 'X-linked' immunodeficiency with hyper-IgM (HIGM1)'
-
R.A. Kroczek, D. Graf, D. Brugnoni, S. Giliani, U. Korthuer, A. Ugazio, et al. Defective expression of CD40 ligand on T cells causes "X-linked immunodeficiency with hyper-IgM (HIGM1)". Immunol Rev 138: 39-59, 1994. (Pubitemid 24147415)
-
(1994)
Immunological Reviews
, Issue.138
, pp. 39-59
-
-
Kroczek, R.A.1
Graf, D.2
Brugnoni, D.3
Giliani, S.4
Korthauer, U.5
Ugazio, A.6
Senger, G.7
Mages, H.W.8
Villa, A.9
Notarangelo, L.D.10
-
117
-
-
33847650123
-
Successful management of neutropenia in a patient with CD40 ligand deficiency by immunoglobulin replacement therapy
-
L. Atarod, A. Aghamohammadi, M. Moin, H. Kanegane, N. Rezaei, K. Rezaei Kalantari, et al. Successful management of neutropenia in a patient with CD40 ligand deficiency by immunoglobulin replacement therapy. Iran J Allergy Asthma Immunol 6: 37-40, 2007. (Pubitemid 46354207)
-
(2007)
Iranian Journal of Allergy, Asthma and Immunology
, vol.6
, Issue.1
, pp. 37-40
-
-
Atarod, L.1
Aghamohammadi, A.2
Moin, M.3
Kanegane, H.4
Rezaei, N.5
Kalantari, K.R.6
Amirzagar, A.A.7
Futatani, T.8
Miyawaki, T.9
-
118
-
-
0034454029
-
Mutation analysis and therapeutic response to granulocyte colony-stimulating factor in a case of hyperimmunoglobulin M syndrome with chronic neutropenia [1]
-
DOI 10.1097/00043426-200005000-00020
-
M. Mori, S. Nonoyama, M. Neubauer, T. Mitsuda, K. Kosuge, and S. Yokota. Mutation analysis and therapeutic response to granulocyte colony-stimulating factor in a case of hyperimmunoglobulin M syndrome with chronic neutropenia. J Pediatr Hematol Oncol 22: 288-289, 2000. (Pubitemid 32268319)
-
(2000)
Journal of Pediatric Hematology/Oncology
, vol.22
, Issue.3
, pp. 288-289
-
-
Mori, M.1
Nonoyama, S.2
Neubauer, M.3
Mitsuda, T.4
Kosuge, T.5
Yokota, S.6
-
119
-
-
57349091855
-
Predominantly antibody deficiencies
-
N. Rezaei, A. Aghamohammadi, and L.D. Notarangelo (Eds.). Berlin Heidelburg: Springer
-
A. Aghamohammadi, V. Lougaris, A. Plebani, M. Miyawaki, A. Durandy, and L. Hammarstorm. Predominantly antibody deficiencies. In: N. Rezaei, A. Aghamohammadi, and L.D. Notarangelo (Eds.). Primary Immunodeficiency Diseases. Berlin Heidelburg: Springer, pp. 97-130, 2008.
-
(2008)
Primary Immunodeficiency Diseases
, pp. 97-130
-
-
Aghamohammadi, A.1
Lougaris, V.2
Plebani, A.3
Miyawaki, M.4
Durandy, A.5
Hammarstorm, L.6
-
120
-
-
33751073244
-
Clinical, immunological and molecular characteristics of 37 Iranian patients with X-linked agammaglobulinemia
-
DOI 10.1159/000095469
-
A. Aghamohammadi, M. Fiorini, M. Moin, N. Parvaneh, S. Teimourian, M. Yeganeh, et al. Clinical, immunological and molecular characteristics of 37 Iranian patients with X-linked agammaglobulinemia. Int Arch Allergy Immunol 141: 408-414, 2006. (Pubitemid 44783913)
-
(2006)
International Archives of Allergy and Immunology
, vol.141
, Issue.4
, pp. 408-414
-
-
Aghamohammadi, A.1
Fiorini, M.2
Moin, M.3
Parvaneh, N.4
Teimourian, S.5
Yeganeh, M.6
Goffi, F.7
Kanegane, H.8
Amirzargar, A.A.9
Pourpak, Z.10
Rezaei, N.11
Salavati, A.12
Pouladi, N.13
Abdollahzade, S.14
Notarangelo, L.D.15
Miyawaki, T.16
Plebani, A.17
-
121
-
-
10744219949
-
X-Linked Agammaglobulinemia: A Survey of 33 Iranian Patients
-
M. Moin, A. Aghamohammadi, A. Farhoudi, Z. Pourpak, N. Rezaei, M. Movahedi, et al. X-linked agammaglobulinemia: A survey of 33 Iranian patients. Immunol Invest 33: 81-93, 2004. (Pubitemid 38292598)
-
(2004)
Immunological Investigations
, vol.33
, Issue.1
, pp. 81-93
-
-
Moin, M.1
Aghamohammadi, A.2
Farhoudi, A.3
Pourpak, Z.4
Rezaei, N.5
Movahedi, M.6
Gharagozlou, M.7
Ghazi, B.M.S.8
Zahed, A.9
Abolmaali, K.10
Mahmoudi, M.11
Emami, L.12
Bashashati, M.13
-
122
-
-
0036796668
-
Clinical findings leading to the diagnosis of X-linked agammaglobulinemia
-
DOI 10.1067/mpd.2002.127711
-
M.E. Conley and V. Howard. Clinical findings leading to the diagnosis of X-linked agammaglobulinemia. J Pediatr 141: 566-571, 2002. (Pubitemid 35193325)
-
(2002)
Journal of Pediatrics
, vol.141
, Issue.4
, pp. 566-571
-
-
Conley, M.E.1
Howard, V.2
-
123
-
-
24744468059
-
Severe neutropenia in Japanese patients with X-linked agammaglobulinemia
-
DOI 10.1007/s10875-005-5370-x
-
H. Kanegane, H. Taneichi, K. Nomura, T. Futatani, and T. Miyawaki. Severe neutropenia in Japanese patients with x-linked agammaglobulinemia. J Clin Immunol 25: 491-495, 2005. (Pubitemid 41298131)
-
(2005)
Journal of Clinical Immunology
, vol.25
, Issue.5
, pp. 491-495
-
-
Kanegane, H.1
Taneichi, H.2
Nomura, K.3
Futatani, T.4
Miyawaki, T.5
-
124
-
-
69249229781
-
Neutropenia associated with x-linked agammaglobulinemia in an Iranian referral center
-
A. Aghamohammadi, T. Cheraghi, N. Rezaei, H. Kanegane, S. Abdollahzede, M. Talaei-Khoei, et al. Neutropenia associated with x-linked agammaglobulinemia in an Iranian referral center. Iran J Allergy Asthma Immunol 8: 43-47, 2009.
-
(2009)
Iran J Allergy Asthma Immunol
, vol.8
, pp. 43-47
-
-
Aghamohammadi, A.1
Cheraghi, T.2
Rezaei, N.3
Kanegane, H.4
Abdollahzede, S.5
Talaei-Khoei, M.6
-
125
-
-
0021812632
-
X-linked agammaglobulinemia: An analysis of 96 patients
-
H.M. Lederman and J.A.Winkelstein. X-linked agammaglobulinemia: An analysis of 96 patients. Medicine (Baltimore) 64: 145-156, 1985. (Pubitemid 15041538)
-
(1985)
Medicine
, vol.64
, Issue.3
, pp. 145-156
-
-
Lederman, H.M.1
Winkelstein, J.A.2
-
126
-
-
21344468850
-
X linked agammaglobulinaemia and rheumatoid arthritis
-
DOI 10.1136/ard.2004.030049
-
G. Verbruggen, S. De Backer, D. Deforce, P. Demetter, C. Cuvelier, E. Veys, and D. Elewaut. X linked agammaglobulinaemia and rheumatoid arthritis. Ann Rheum Dis 64: 1075-1078, 2005. (Pubitemid 40909527)
-
(2005)
Annals of the Rheumatic Diseases
, vol.64
, Issue.7
, pp. 1075-1078
-
-
Verbruggen, G.1
De Backer, S.2
Deforce, D.3
Demetter, P.4
Cuvelier, C.5
Veys, E.6
Elewaut, D.7
-
127
-
-
34250006519
-
Molecular analysis of the pre-BCR complex in a large cohort of patients affected by autosomal-recessive agammaglobulinemia
-
DOI 10.1038/sj.gene.6364391, PII 6364391
-
S. Ferrari, R. Zuntini, V. Lougaris, A. Soresina, V. Sourkova, M. Fiorini, et al. Molecular analysis of the pre-BCR complex in a large cohort of patients affected by autosomal-recessive agammaglobulinemia. Genes Immun 8: 325-333, 2007. (Pubitemid 46888040)
-
(2007)
Genes and Immunity
, vol.8
, Issue.4
, pp. 325-333
-
-
Ferrari, S.1
Zuntini, R.2
Lougaris, V.3
Soresina, A.4
Sourkova, V.5
Fiorini, M.6
Martino, S.7
Rossi, P.8
Pietrogrande, M.C.9
Martire, B.10
Spadaro, G.11
Cardinale, F.12
Cossu, F.13
Pierani, P.14
Quinti, I.15
Rossi, C.16
Plebani, A.17
-
128
-
-
10344239867
-
Mutations in the mu heavy chain gene in patients with agammaglobulinemia
-
DOI 10.1056/NEJM199611143352003
-
L. Yel, Y. Minegishi, E. Coustan-Smith, R.H. Buckley, H. Trubel, L.M. Pachman, et al. Mutations in the mu heavy-chain gene in patients with agammaglobulinemia. N Engl J Med 335: 1486-1493, 1996. (Pubitemid 26376681)
-
(1996)
New England Journal of Medicine
, vol.335
, Issue.20
, pp. 1486-1493
-
-
Yel, L.1
Minegishi, Y.2
Coustan-Smith, E.3
Buckley, R.H.4
Trubel, H.5
Pachman, L.M.6
Kitchingman, G.R.7
Campana, D.8
Rohrer, J.9
Conley, M.E.10
-
129
-
-
0027399081
-
Deficient expression of a B cell cytoplasmic tyrosine kinase in human X- linked agammaglobulinemia
-
DOI 10.1016/0092-8674(93)90667-F
-
S. Tsukada, D.C. Saffran, D.J. Rawlings, O. Parolini, R.C. Allen, I. Klisak, et al. Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia. Cell 72: 279-290, 1993. (Pubitemid 23044942)
-
(1993)
Cell
, vol.72
, Issue.2
, pp. 279-290
-
-
Tsukada, S.1
Saffran, D.C.2
Rawlings, D.J.3
Parolini, O.4
Allen, R.C.5
Klisak, I.6
Sparkes, R.S.7
Kubagawa, H.8
Mohandas, T.9
Quan, S.10
Belmont, J.W.11
Cooper, M.D.12
Conley, M.E.13
Witte, O.N.14
-
130
-
-
33750973379
-
BTKbase: The mutation database for X-linked agammaglobulinemia
-
DOI 10.1002/humu.20410
-
J. Valiaho, C.I. Smith, and M. Vihinen. BTKbase: The mutation database for Xlinked agammaglobulinemia. Hum Mutat 27: 1209-1217, 2006. (Pubitemid 44749723)
-
(2006)
Human Mutation
, vol.27
, Issue.12
, pp. 1209-1217
-
-
Valiaho, J.1
Smith, C.I.E.2
Vihinen, M.3
-
131
-
-
0031594211
-
Mutations in the human λ5/14.1 Gene result in B cell deficiency and agammaglobulinemia
-
DOI 10.1084/jem.187.1.71
-
Y. Minegishi, E. Coustan-Smith, Y.H. Wang, M.D. Cooper, D. Campana, and M.E. Conley. Mutations in the human lambda5/14.1 gene result in B cell deficiency and agammaglobulinemia. J Exp Med 187: 71-77, 1998. (Pubitemid 28044821)
-
(1998)
Journal of Experimental Medicine
, vol.187
, Issue.1
, pp. 71-77
-
-
Minegishi, Y.1
Coustan-Smith, E.2
Wang, Y.-H.3
Cooper, M.D.4
Campana, D.5
Conley, M.E.6
-
132
-
-
0036525675
-
Novel Igα (CD79a) gene mutation in a Turkish patient with B cell-deficient agammaglobulinemia
-
DOI 10.1002/ajmg.10296
-
Y.Wang, H. Kanegane, O. Sanal, I. Tezcan, F. Ersoy, T. Futatani, and T. Miyawaki. Novel Igalpha (CD79a) gene mutation in a Turkish patient with B cell-deficient agammaglobulinemia. Am J Med Genet 108: 333-336, 2002. (Pubitemid 34225897)
-
(2002)
American Journal of Medical Genetics
, vol.108
, Issue.4
, pp. 333-336
-
-
Wang, Y.1
Kanegane, H.2
Sanal, O.3
Tezcan, I.4
Ersoy, F.5
Futatani, T.6
Miyawaki, T.7
-
133
-
-
34848840304
-
Cutting edge: A hypomorphic mutation in Igbeta (CD79b) in a patient with immunodeficiency and a leaky defect in B cell development
-
A.K. Dobbs, T. Yang, D. Farmer, L. Kager, O. Parolini, and M.E. Conley. Cutting edge: A hypomorphic mutation in Igbeta (CD79b) in a patient with immunodeficiency and a leaky defect in B cell development. J Immunol 179: 2055-2059, 2007.
-
(2007)
J Immunol
, vol.179
, pp. 2055-2059
-
-
Dobbs, A.K.1
Yang, T.2
Farmer, D.3
Kager, L.4
Parolini, O.5
Conley, M.E.6
-
134
-
-
34548447567
-
Mutations of the Igβ gene cause agammaglobulinemia in man
-
DOI 10.1084/jem.20070264
-
S. Ferrari, V. Lougaris, S. Caraffi, R. Zuntini, J. Yang, A. Soresina, et al.Mutations of the Igbeta gene cause agammaglobulinemia in man.J Exp Med 204: 2047-2051, 2007. (Pubitemid 47360867)
-
(2007)
Journal of Experimental Medicine
, vol.204
, Issue.9
, pp. 2047-2051
-
-
Ferrari, S.1
Lougaris, V.2
Caraffi, S.3
Zuntini, R.4
Yang, J.5
Soresina, A.6
Meini, A.7
Cazzola, G.8
Rossi, C.9
Reth, M.10
Plebani, A.11
-
135
-
-
0033521148
-
An essential role for BLNK in human B cell development
-
Y. Minegishi, J. Rohrer, E. Coustan-Smith, H.M. Lederman, R. Pappu, D. Campana, et al. An essential role for BLNK in human B cell development. Science 286: 1954-1957, 1999. (Pubitemid 129515903)
-
(1999)
Science
, vol.286
, Issue.5446
, pp. 1954-1957
-
-
Minegishi, Y.1
Rohrer, J.2
Coustan-Smith, E.3
Lederman, H.M.4
Pappu, R.5
Campana, D.6
Chan, A.C.7
Conley, M.E.8
-
137
-
-
0345306270
-
Is neutropenia a clue for early diagnosis of X-linked agammaglobulinemia?
-
B. Tavil and T. Sipahi. Is neutropenia a clue for early diagnosis of X-linked agammaglobulinemia? Pediatr Hematol Oncol 20: 657-658, 2003. (Pubitemid 37462991)
-
(2003)
Pediatric Hematology and Oncology
, vol.20
, Issue.8
, pp. 657-658
-
-
Tavil, B.1
Sipahi, T.2
-
138
-
-
77951533560
-
Combined T and B cell immunodeficiencies
-
N. Rezaei, A. Aghamohammadi, and L.D. Notarangelo (Eds.). Heidelberg, Berlin: Springer
-
F. Le Deist, D. Moshous, S.J. Howe, A. Nahum, F.D. Kavadas, E. Lavine, et al. Combined T and B cell immunodeficiencies. In: N. Rezaei, A. Aghamohammadi, and L.D. Notarangelo (Eds.). Primary Immunodeficiency Diseases. Heidelberg, Berlin: Springer, pp. 39-95, 2008.
-
(2008)
Primary Immunodeficiency Diseases
, pp. 39-95
-
-
Le Deist, F.1
Moshous, D.2
Howe, S.J.3
Nahum, A.4
Kavadas, F.D.5
Lavine, E.6
-
139
-
-
0030006355
-
Extremely thermophilic and thermostable 5'-methylthioadenosine phosphorylase from the archaeon sulfolobus solfataricus. Gene cloning and amino acid sequence determination
-
G. Cacciapuoti, M. Porcelli, C. Bertoldo, S. Fusco, M. De Rosa, and V. Zappia. Extremely thermophilic and thermostable 5-methylthioadenosine phosphorylase from the archaeon sulfolobus solfataricus. Gene cloning and amino acid sequence determination. Eur J Biochem 239: 632-637, 1996. (Pubitemid 26253034)
-
(1996)
European Journal of Biochemistry
, vol.239
, Issue.3
, pp. 632-637
-
-
Cacciapuoti, G.1
Porcelli, M.2
Bertoldo, C.3
Fusco, S.4
De Rosa, M.5
Zappia, V.6
-
140
-
-
0034956862
-
Two novel mutations in a purine nucleoside phosphorylase (PNP)-deficient patient
-
DOI 10.1034/j.1399-0004.2001.590608.x
-
I. Dalal, E. Grunebaum, A. Cohen, and C.M. Roifman. Two novel mutations in a purine nucleoside phosphorylase (PNP)-deficient patient. Clin Genet 59: 430-437, 2001. (Pubitemid 32605810)
-
(2001)
Clinical Genetics
, vol.59
, Issue.6
, pp. 430-437
-
-
Dalal, I.1
Grunebaum, E.2
Cohen, A.3
Roifman, C.M.4
-
141
-
-
0029032523
-
Normal uric acid concentrations in a purine nucleoside phosphorylase (PNP) deficient child presenting with severe chicken pox, possible immunodeficiency and developmental delay
-
R.J. Hallett, S.M. Cronin, G. Morgan, J.A. Duley, L.D. Fairbanks, and
-
(1994)
Adv Exp Med Biol
, vol.370
, pp. 387-389
-
-
Hallett, R.J.1
Cronin, S.M.2
Morgan, G.3
Duley, J.A.4
Fairbanks, L.D.5
Simmonds, H.A.6
-
142
-
-
0031833946
-
Adenosine deaminase deficiency and purine nucleoside phosphorylase deficiency in common variable immunodeficiency
-
A. Fleischman, M.S. Hershfield, S. Toutain, H.M. Lederman, K.E. Sullivan, M.B. Fasano, et al. Adenosine deaminase deficiency and purine nucleoside phosphorylase deficiency in common variable immunodeficiency. Clin Diagn Lab Immunol 5: 399-400, 1998. (Pubitemid 28246465)
-
(1998)
Clinical and Diagnostic Laboratory Immunology
, vol.5
, Issue.3
, pp. 399-400
-
-
Fleischman, A.1
Hershfield, M.S.2
Toutain, S.3
Lederman, H.M.4
Sullivan, K.E.5
Fasano, M.B.6
Greene, J.7
Winkelstein, J.A.8
-
143
-
-
0018225470
-
Deoxyguanosine toxicity in a mouse T lymphoma: Relationship to purine nucleoside phosphorylase-associated immune dysfunction
-
L.J. Gudas, B. Ullman, A. Cohen, and D.W. Martin, Jr. Deoxyguanosine toxicity in amouse T lymphoma: Relationship to purine nucleoside phosphorylase-associated immune dysfunction. Cell 14: 531-538, 1978. (Pubitemid 9190233)
-
(1978)
Cell
, vol.14
, Issue.3
, pp. 531-538
-
-
Gudas, L.J.1
Ullman, B.2
Cohen, A.3
Martin Jr., D.W.4
-
144
-
-
0024810451
-
Guanine nucleotide metabolism in red blood cells: The metabolic basis for GTP depletion in HGPRT and PNP deficiency
-
Y. Sidi, I. Gelvan, S. Brosh, J. Pinkhas, and O. Sperling. Guanine nucleotide metabolism in red blood cells: The metabolic basis for GTP depletion in HGPRT and PNP deficiency. Adv Exp Med Biol 253A: 67-71, 1989.
-
(1989)
Adv Exp Med Biol
, vol.253 A
, pp. 67-71
-
-
Sidi, Y.1
Gelvan, I.2
Brosh, S.3
Pinkhas, J.4
Sperling, O.5
-
145
-
-
0023318136
-
Central nervous system dysfunction and erythrocyte guanosine triphosphate depletion in purine nucleoside phosphorylase deficiency
-
H.A. Simmonds, L.D. Fairbanks, G.S. Morris, G. Morgan, A.R. Watson, P. Timms, and B. Singh. Central nervous system dysfunction and erythrocyte guanosine triphosphate depletion in purine nucleoside phosphorylase deficiency. Arch Dis Child 62: 385-391, 1987.
-
(1987)
Arch Dis Child
, vol.62
, pp. 385-391
-
-
Simmonds, H.A.1
Fairbanks, L.D.2
Morris, G.S.3
Morgan, G.4
Watson, A.R.5
Timms, P.6
Singh, B.7
-
146
-
-
33645067636
-
Autoimmune lymphoproliferative syndrome: Molecular basis of disease and clinical phenotype
-
A. Worth, A.J. Thrasher, and H.B. Gaspar. Autoimmune lymphoproliferative syndrome: Molecular basis of disease and clinical phenotype. Br J Haematol 133: 124-140, 2006.
-
(2006)
Br J Haematol
, vol.133
, pp. 124-140
-
-
Worth, A.1
Thrasher, A.J.2
Gaspar, H.B.3
-
147
-
-
0036334807
-
- T cells (α/β-DNTCs) in humans with autoimmune lymphoproliferative syndrome
-
DOI 10.1006/clim.2002.5225
-
J.J. Bleesing, M.R. Brown, C. Novicio, D. Guarraia, J.K. Dale, S.E. Straus, and T.A. Fleisher. A composite picture of TcR alpha/beta(+) CD4(-)CD8(-) T cells (alpha/beta-DNTCs) in humans with autoimmune lymphoproliferative syndrome. Clin Immunol 104: 21-30, 2002. (Pubitemid 34856505)
-
(2002)
Clinical Immunology
, vol.104
, Issue.1
, pp. 21-30
-
-
Bleesing, J.J.H.1
Brown, M.R.2
Novicio, C.3
Guarraia, D.4
Dale, J.K.5
Straus, S.E.6
Fleisher, T.A.7
-
148
-
-
0035874537
-
Increases in circulating and lymphoid tissue interleukin-10 in autoimmune lymphoproliferative syndrome are associated with disease expression
-
U. Lopatin, X. Yao, R.K.Williams, J.J. Bleesing, J.K. Dale, D.Wong, et al. Increases in circulating and lymphoid tissue interleukin-10 in autoimmune lymphoproliferative syndrome are associated with disease expression. Blood 97: 3161-3170, 2001.
-
(2001)
Blood
, vol.97
, pp. 3161-3170
-
-
Lopatin, U.1
Yao, X.2
Williams, R.K.3
Bleesing, J.J.4
Dale, J.K.5
Wong, D.6
-
149
-
-
0347504843
-
Neutrophil and platelet antibodies in autoimmune lymphoproliferative syndrome
-
DOI 10.1111/j.0042-9007.2003.00374.x
-
S.W. Kwon, J. Procter, J.K. Dale, S.E. Straus, and D.F. Stroncek. Neutrophil and platelet antibodies in autoimmune lymphoproliferative syndrome. Vox Sang 85: 307-312, 2003. (Pubitemid 37522605)
-
(2003)
Vox Sanguinis
, vol.85
, Issue.4
, pp. 307-312
-
-
Kwon, S.-W.1
Procter, J.2
Dale, J.K.3
Straus, S.E.4
Stroncek, D.F.5
-
150
-
-
0031568651
-
Characteristic T Helper 2 T Cell Cytokine Abnormalities in Autoimmune Lymphoproliferative Syndrome, a Syndrome Marked by Defective Apoptosis and Humoral Autoimmunity
-
I.J. Fuss,W. Strober, J.K.Dale, S. Fritz,G.R. Pearlstein, J.M. Puck, et al. Characteristic T helper 2 T cell cytokine abnormalities in autoimmune lymphoproliferative syndrome, a syndrome marked by defective apoptosis and humoral autoimmunity. J Immunol 158: 1912-1918, 1997. (Pubitemid 127469551)
-
(1997)
Journal of Immunology
, vol.158
, Issue.4
, pp. 1912-1918
-
-
Fuss, I.J.1
Strober, W.2
Dale, J.K.3
Fritz, S.4
Pearlstein, G.R.5
Puck, J.M.6
Lenardo, M.J.7
Straus, S.E.8
-
151
-
-
0029737324
-
Fas ligand mutation in a patient with systemic lupus erythematosus and lymphoproliferative disease
-
J.Wu, J.Wilson, J. He, L. Xiang, P.H. Schur, and J.D. Mountz. Fas ligand mutation in a patient with systemic lupus erythematosus and lymphoproliferative disease. J Clin Invest 98: 1107-1113, 1996. (Pubitemid 26299922)
-
(1996)
Journal of Clinical Investigation
, vol.98
, Issue.5
, pp. 1107-1113
-
-
Wu, J.1
Wilson, J.2
He, J.3
Xiang, L.4
Schur, P.H.5
Mountz, J.D.6
-
152
-
-
18544383460
-
Pleiotropic defects in lymphocyte activation caused by caspase-8 mutations lead to human immunodeficiency
-
H.J. Chun, L. Zheng,M. Ahmad, J.Wang, C.K. Speirs, R.M. Siegel, et al. Pleiotropic defects in lymphocyte activation caused by caspase-8 mutations lead to human immunodeficiency. Nature 419: 395-399, 2002.
-
(2002)
Nature
, vol.419
, pp. 395-399
-
-
Chun, H.J.1
Zheng, L.2
Ahmad, M.3
Wang, J.4
Speirs, C.K.5
Siegel, R.M.6
-
153
-
-
0033538475
-
Inherited human caspase 10 mutations underlie defective lymphocyte and dendritic cell apoptosis in autoimmune lymphoproliferative syndrome type II
-
DOI 10.1016/S0092-8674(00)80605-4
-
J.Wang, L. Zheng, A. Lobito, F.K. Chan, J. Dale, M. Sneller, et al. Inherited human caspase 10 mutations underlie defective lymphocyte and dendritic cell apoptosis in autoimmune lymphoproliferative syndrome type II. Cell 98: 47-58, 1999. (Pubitemid 29331195)
-
(1999)
Cell
, vol.98
, Issue.1
, pp. 47-58
-
-
Wang, J.1
Zheng, L.2
Lobito, A.3
Chan, F.K.-M.4
Dale, J.5
Sneller, M.6
Yao, X.7
Puck, J.M.8
Straus, S.E.9
Lenardo, M.J.10
-
154
-
-
0027069484
-
Anaemia and macrocytosis - Unrecognized features in cartilage-hair hypoplasia
-
O. Makitie, J. Rajantie, and I. Kaitila. Anaemia and macrocytosis- Unrecognized features in cartilage-hair hypoplasia. Acta Paediatr 81: 1026-1029, 1992. (Pubitemid 23044781)
-
(1992)
Acta Paediatrica, International Journal of Paediatrics
, vol.81
, Issue.12
, pp. 1026-1029
-
-
Makitie, O.1
Rajantie, J.2
Kaitila, I.3
-
155
-
-
0014966734
-
Chronic neutropenia and abnormal cellular immunity in cartilage-hair hypoplasia
-
S.E. Lux, R.B. Johnston, Jr., C.S. August, B. Say, V.B. Penchaszadeh, F.S. Rosen, and V.A. McKusick. Chronic neutropenia and abnormal cellular immunity in cartilage-hair hypoplasia. N Engl J Med 282: 231-236, 1970.
-
(1970)
N Engl J Med
, vol.282
, pp. 231-236
-
-
Lux, S.E.1
Johnston Jr., R.B.2
August, C.S.3
Say, B.4
Penchaszadeh, V.B.5
Rosen, F.S.6
McKusick, V.A.7
-
156
-
-
0017902124
-
Cellular and humoral immunity in cartilage-hair hypoplasia
-
M. Virolainen, E. Savilahti, I. Kaitila, and J. Perheentupa. Cellular and humoral immmunity in cartilage-hair hypoplasia. Pediatr Res 12: 961-966, 1978. (Pubitemid 8398359)
-
(1978)
Pediatric Research
, vol.12
, Issue.10
, pp. 961-966
-
-
Virolainen, M.1
Savilahti, E.2
Kaitila, I.3
Perheentupa, J.4
-
157
-
-
0031714502
-
Susceptibility to infections and in vitro immune functions in cartilage- hair hypoplasia
-
DOI 10.1007/s004310050943
-
O. Makitie, I. Kaitila, and E. Savilahti. Susceptibility to infections and in vitro immune functions in cartilage-hair hypoplasia. Eur J Pediatr 157: 816-820, 1998. (Pubitemid 28460742)
-
(1998)
European Journal of Pediatrics
, vol.157
, Issue.10
, pp. 816-820
-
-
Makitie, O.1
Kaitila, I.2
Savilahti, E.3
-
158
-
-
0033754401
-
Deficiency of humoral immunity in cartilage-hair hypoplasia
-
O. Makitie, I. Kaitila, and E. Savilahti. Deficiency of humoral immunity in cartilage-hair hypoplasia. J Pediatr 137: 487-492, 2000.
-
(2000)
J Pediatr
, vol.137
, pp. 487-492
-
-
Makitie, O.1
Kaitila, I.2
Savilahti, E.3
-
159
-
-
0026673551
-
Skeletal growth in cartilage-hair hypoplasia. A radiological study of 82 patients
-
O. Makitie, E. Marttinen, and I. Kaitila. Skeletal growth in cartilage-hair hypoplasia. A radiological study of 82 patients. Pediatr Radiol 22: 434-439, 1992.
-
(1992)
Pediatr Radiol
, vol.22
, pp. 434-439
-
-
Makitie, O.1
Marttinen, E.2
Kaitila, I.3
-
160
-
-
0036829540
-
Hirschsprung's disease in cartilage-hair hypoplasia has poor prognosis
-
DOI 10.1053/jpsu.2002.36189
-
O. Makitie, M. Heikkinen, I. Kaitila, and R. Rintala. Hirschsprung's disease in cartilage-hair hypoplasia has poor prognosis. J Pediatr Surg 37: 1585-1588, 2002. (Pubitemid 35253599)
-
(2002)
Journal of Pediatric Surgery
, vol.37
, Issue.11
, pp. 1585-1588
-
-
Makitie, O.1
Heikkinen, M.2
Kaitila, I.3
Rintala, R.4
-
161
-
-
17744393618
-
Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia
-
DOI 10.1016/S0092-8674(01)00205-7
-
M. Ridanpaa, H. van Eenennaam, K. Pelin, R. Chadwick, C. Johnson, B. Yuan, et al. Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia. Cell 104: 195-203, 2001. (Pubitemid 32174836)
-
(2001)
Cell
, vol.104
, Issue.2
, pp. 195-203
-
-
Ridanpaa, M.1
Van Eenennaam, H.2
Pelin, K.3
Chadwick, R.4
Johnson, C.5
Yuan, B.6
VanVenrooij, W.7
Pruijn, G.8
Salmela, R.9
Rockas, S.10
Makitie, O.11
Kaitila, I.12
De La Chapelle, A.13
-
162
-
-
0027212015
-
Defective neutrophil and monocyte functions in glycogen storage disease type Ib: A literature review
-
R. Gitzelmann and N.U. Bosshard. Defective neutrophil and monocyte functions in glycogen storage disease type Ib: A literature review. Eur J Pediatr 152(Suppl 1): S33-S38, 1993. (Pubitemid 23134775)
-
(1993)
European Journal of Pediatrics
, vol.152
, Issue.SUPPL. 1
-
-
Gitzelmann, R.1
Bosshard, N.U.2
-
164
-
-
0036387417
-
Glycogen storage disease type I: Diagnosis, management, clinical course and outcome. Results of the European Study on Glycogen Storage Disease Type i (ESGSD I)
-
J.P. Rake, G. Visser, P. Labrune, J.V. Leonard, K. Ullrich, and G.P. Smit. Glycogen storage disease type I: Diagnosis, management, clinical course and outcome. Results of the European Study on Glycogen Storage Disease Type I (ESGSD I). Eur J Pediatr 161(Suppl 1): S20-S34, 2002.
-
(2002)
Eur J Pediatr
, vol.161
, Issue.SUPPL. 1
-
-
Rake, J.P.1
Visser, G.2
Labrune, P.3
Leonard, J.V.4
Ullrich, K.5
Smit, G.P.6
-
165
-
-
0036086034
-
Type I glycogen storage diseases: Disorders of the glucose-6-phosphatase complex
-
J.Y. Chou, D. Matern, B.C. Mansfield, and Y.T. Chen. Type I glycogen storage diseases: Disorders of the glucose-6-phosphatase complex. Curr Mol Med 2: 121-143, 2002. (Pubitemid 34649836)
-
(2002)
Current Molecular Medicine
, vol.2
, Issue.2
, pp. 121-143
-
-
Chou, J.Y.1
Matern, D.2
Mansfield, B.C.3
Chen, Y.-T.4
-
166
-
-
0030063963
-
Glucose-6-phosphatase dependent substrate transport in the glycogen storage disease type-1a mouse
-
DOI 10.1038/ng0696-203
-
K.J. Lei, H. Chen, C.J. Pan, J.M. Ward, B. Mosinger, Jr., E.J. Lee, et al. Glucose-6- phosphatase dependent substrate transport in the glycogen storage disease type- 1a mouse. Nat Genet 13: 203-209, 1996. (Pubitemid 26000441)
-
(1996)
Nature Genetics
, vol.13
, Issue.2
, pp. 203-209
-
-
Lei, K.-J.1
Chen, H.2
Pan, C.-J.3
Ward, J.M.4
Mosinger Jr., B.5
Lee, E.J.6
Westphal, H.7
Mansfield, B.C.8
Chou, J.Y.9
-
167
-
-
0033605362
-
Inactivation of the glucose 6-phosphate transporter causes glycogen storage disease type 1b
-
DOI 10.1074/jbc.274.9.5532
-
H. Hiraiwa, C.J. Pan, B. Lin, S.W. Moses, and J.Y. Chou. Inactivation of the glucose 6-phosphate transporter causes glycogen storage disease type 1b.J Biol Chem 274: 5532-5536, 1999. (Pubitemid 29109201)
-
(1999)
Journal of Biological Chemistry
, vol.274
, Issue.9
, pp. 5532-5536
-
-
Hiraiwa, H.1
Pan, C.-J.2
Lin, B.3
Moses, S.W.4
Chou, J.Y.5
-
168
-
-
0035423875
-
The glucose-regulated proteins: Stress induction and clinical applications
-
DOI 10.1016/S0968-0004(01)01908-9, PII S0968000401019089
-
A.S. Lee. The glucose-regulated proteins: Stress induction and clinical applications. Trends Biochem Sci 26: 504-510, 2001. (Pubitemid 32735452)
-
(2001)
Trends in Biochemical Sciences
, vol.26
, Issue.8
, pp. 504-510
-
-
Lee, A.S.1
-
169
-
-
47049108414
-
Neutrophil stress and apoptosis underlie myeloid dysfunction in glycogen storage disease type Ib
-
S.Y. Kim, H.S. Jun, P.A. Mead, B.C. Mansfield, and J.Y. Chou. Neutrophil stress and apoptosis underlie myeloid dysfunction in glycogen storage disease type Ib. Blood 111: 5704-5711, 2008.
-
(2008)
Blood
, vol.111
, pp. 5704-5711
-
-
Kim, S.Y.1
Jun, H.S.2
Mead, P.A.3
Mansfield, B.C.4
Chou, J.Y.5
-
170
-
-
0025951140
-
X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria
-
R.I. Kelley, J.P. Cheatham, B.J. Clark, M.A. Nigro, B.R. Powell, G.W. Sherwood, et al. X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria. J Pediatr 119: 738-747, 1991.
-
(1991)
J Pediatr
, vol.119
, pp. 738-747
-
-
Kelley, R.I.1
Cheatham, J.P.2
Clark, B.J.3
Nigro, M.A.4
Powell, B.R.5
Sherwood, G.W.6
-
171
-
-
0035451482
-
Preliminary evidence for a cognitive phenotype in Barth syndrome
-
DOI 10.1002/ajmg.1487
-
M.M. Mazzocco and R.I. Kelley. Preliminary evidence for a cognitive phenotype in Barth syndrome. Am J Med Genet 102: 372-378, 2001. (Pubitemid 32778024)
-
(2001)
American Journal of Medical Genetics
, vol.102
, Issue.4
, pp. 372-378
-
-
Mazzocco, M.M.M.1
Kelley, R.I.2
-
172
-
-
2142765298
-
X-Linked Cardioskeletal Myopathy and Neutropenia (Barth Syndrome): An Update
-
P.G. Barth, F. Valianpour, V.M. Bowen, J. Lam, M. Duran, F.M. Vaz, and R.J. Wanders. X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): An update. Am J Med Genet A 126A: 349-354, 2004. (Pubitemid 38541803)
-
(2004)
American Journal of Medical Genetics
, vol.126 A
, Issue.4
, pp. 349-354
-
-
Barth, P.G.1
Valianpour, F.2
Bowen, V.M.3
Lam, J.4
Duran, M.5
Vaz, F.M.6
Wanders, R.J.A.7
-
173
-
-
0029869035
-
X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): Respiratory-chain abnormalities in cultured fibroblasts
-
DOI 10.1007/BF01799418
-
P.G. Barth, C. Van den Bogert, P.A. Bolhuis, H.R. Scholte, A.H. van Gennip, R.B. Schutgens, and A.G. Ketel. X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): Respiratory-chain abnormalities in cultured fibroblasts. J Inherit Metab Dis 19: 157-160, 1996. (Pubitemid 26137512)
-
(1996)
Journal of Inherited Metabolic Disease
, vol.19
, Issue.2
, pp. 157-160
-
-
Barth, P.G.1
Van Den Bogert, C.2
Bolhuis, P.A.3
Scholte, H.R.4
Van Gennip, A.H.5
Schutgens, R.B.H.6
Ketel, A.G.7
-
174
-
-
0029963145
-
A novel X-linked gene, G4.5. is responsible for Barth syndrome
-
DOI 10.1038/ng0496-385
-
S. Bione, P. D'Adamo, E. Maestrini, A.K. Gedeon, P.A. Bolhuis, and D. Toniolo. A novel X-linked gene, G4.5. is responsible for Barth syndrome. Nat Genet 12: 385-389, 1996. (Pubitemid 26106250)
-
(1996)
Nature Genetics
, vol.12
, Issue.4
, pp. 385-389
-
-
Bione, S.1
D'Adamo, P.2
Maestrini, E.3
Gedeon, A.K.4
Bolhuis, P.A.5
Toniolo, D.6
-
175
-
-
2342480420
-
Neutrophils in Barth syndrome (BTHS) avidly bind annexin-V in the absence of apoptosis
-
DOI 10.1182/blood-2003-11-3940
-
T.W. Kuijpers, N.A. Maianski, A.T. Tool, K. Becker, B. Plecko, F. Valianpour, et al. Neutrophils in Barth syndrome (BTHS) avidly bind annexin-V in the absence of apoptosis. Blood 103: 3915-3923, 2004. (Pubitemid 38596313)
-
(2004)
Blood
, vol.103
, Issue.10
, pp. 3915-3923
-
-
Kuijpers, T.W.1
Maianski, N.A.2
Tool, A.T.J.3
Becker, K.4
Plecko, B.5
Valianpour, F.6
Wanders, R.J.A.7
Pereira, R.8
Van Hove, J.9
Verhoeven, A.J.10
Roos, D.11
Baas, F.12
Barth, P.G.13
-
176
-
-
40549106508
-
Diagnosis genetics, and management of inherited bone marrow failure syndromes
-
B.P. Alter. Diagnosis, genetics, and management of inherited bone marrow failure syndromes. Hematology Am Soc Hematol Educ Program 2007: 29-39, 2007.
-
(2007)
Hematology Am Soc Hematol Educ Program
, vol.2007
, pp. 29-39
-
-
Alter, B.P.1
-
177
-
-
0033754823
-
Dyskeratosis congenita in all its forms
-
I. Dokal. Dyskeratosis congenita in all its forms. Br J Haematol 110: 768-779, 2000.
-
(2000)
Br J Haematol
, vol.110
, pp. 768-779
-
-
Dokal, I.1
-
178
-
-
0031799895
-
X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions
-
DOI 10.1038/ng0598-32
-
N.S. Heiss, S.W. Knight, T.J. Vulliamy, S.M. Klauck, S. Wiemann, P.J. Mason, et al. X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions. Nat Genet 19: 32-38, 1998. (Pubitemid 28242019)
-
(1998)
Nature Genetics
, vol.19
, Issue.1
, pp. 32-38
-
-
Heiss, N.S.1
Knight, S.W.2
Vulliamy, T.J.3
Klauck, S.M.4
Wiemann, S.5
Mason, P.J.6
Poustka, A.7
Dokal, I.8
-
179
-
-
33645508898
-
Mutations in dyskeratosis congenita: Their impact on telomere length and the diversity of clinical presentation
-
T.J. Vulliamy, A. Marrone, S.W. Knight, A. Walne, P.J. Mason, and I. Dokal. Mutations in dyskeratosis congenita: Their impact on telomere length and the diversity of clinical presentation. Blood 107: 2680-2685, 2006.
-
(2006)
Blood
, vol.107
, pp. 2680-2685
-
-
Vulliamy, T.J.1
Marrone, A.2
Knight, S.W.3
Walne, A.4
Mason, P.J.5
Dokal, I.6
-
180
-
-
18844421369
-
Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure
-
DOI 10.1016/j.bcmd.2004.12.008, PII S1079979605000306
-
T.J. Vulliamy, A.Walne, A. Baskaradas, P.J. Mason, A. Marrone, and I. Dokal. Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure. Blood Cells Mol Dis 34: 257-263, 2005. (Pubitemid 40693563)
-
(2005)
Blood Cells, Molecules, and Diseases
, vol.34
, Issue.3
, pp. 257-263
-
-
Vulliamy, T.J.1
Walne, A.2
Baskaradas, A.3
Mason, P.J.4
Marrone, A.5
Dokal, I.6
-
181
-
-
34447307404
-
Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10
-
DOI 10.1093/hmg/ddm111
-
A.J. Walne, T. Vulliamy, A. Marrone, R. Beswick, M. Kirwan, Y. Masunari, et al. Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10. Hum Mol Genet 16: 1619-1629, 2007. (Pubitemid 47050675)
-
(2007)
Human Molecular Genetics
, vol.16
, Issue.13
, pp. 1619-1629
-
-
Walne, A.J.1
Vulliamy, T.2
Marrone, A.3
Beswick, R.4
Kirwan, M.5
Masunari, Y.6
Al-Qurashi, F.-H.7
Aljurf, M.8
Dokal, I.9
-
182
-
-
33745516977
-
Dyskeratosis Congenita
-
DOI 10.1053/j.seminhematol.2006.04.001, PII S0037196306000758, Constitutional Marrow Failure
-
T. Vulliamy and I. Dokal. Dyskeratosis congenita. Semin Hematol 43: 157-166, 2006. (Pubitemid 43977822)
-
(2006)
Seminars in Hematology
, vol.43
, Issue.3
, pp. 157-166
-
-
Vulliamy, T.1
Dokal, I.2
-
183
-
-
0021827010
-
Severe congenital leukopenia (reticular dysgenesis). Immunologic and morphologic characterizations of leukocytes
-
M. Roper, R.T. Parmley,W.M. Crist, D.R. Kelly, and M.D. Cooper. Severe congenital leukopenia (reticular dysgenesis). Immunologic and morphologic characterizations of leukocytes. Am J Dis Child 139: 832-835, 1985. (Pubitemid 15022984)
-
(1985)
American Journal of Diseases of Children
, vol.139
, Issue.8
, pp. 832-835
-
-
Roper, M.1
Parmley, R.T.2
Christ, W.M.3
-
184
-
-
0017364418
-
Congenital immunodeficiency and agranulocytosis (reticular dysgenesia)
-
R.J. Haas, D. Niethammer, S.F. Goldmann, W. Heit, U. Bienzle, and E. Kleihauer. Congenital immunodeficiency and agranulocytosis (reticular dysgenesia). Acta Paediatr Scand 66: 279-283, 1977. (Pubitemid 8085677)
-
(1977)
Acta Paediatrica Scandinavica
, vol.66
, Issue.3
, pp. 279-283
-
-
Haas, R.J.1
Niethammer, D.2
Goldmann, S.F.3
-
185
-
-
58149142930
-
Reticular dysgenesis (aleukocytosis) is caused by mutations in the gene encoding mitochondrial adenylate kinase 2
-
U. Pannicke, M. Honig, I. Hess, C. Friesen, K. Holzmann, E.M. Rump, et al. Reticular dysgenesis (aleukocytosis) is caused by mutations in the gene encoding mitochondrial adenylate kinase 2. Nat Genet 41: 101-105, 2009.
-
(2009)
Nat Genet
, vol.41
, pp. 101-105
-
-
Pannicke, U.1
Honig, M.2
Hess, I.3
Friesen, C.4
Holzmann, K.5
Rump, E.M.6
-
186
-
-
58149144707
-
Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness
-
C. Lagresle-Peyrou, E.M. Six, C. Picard, F. Rieux-Laucat, V. Michel, A. Ditadi, et al. Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness. Nat Genet 41: 106-111, 2009.
-
(2009)
Nat Genet
, vol.41
, pp. 106-111
-
-
Lagresle-Peyrou, C.1
Six, E.M.2
Picard, C.3
Rieux-Laucat, F.4
Michel, V.5
Ditadi, A.6
-
187
-
-
0035425580
-
Cohen syndrome: Essential features, natural history, and heterogeneity
-
DOI 10.1002/1096-8628(20010801)102: 2<125::AID-AJMG1439>3.0.CO;2-0
-
S. Kivitie-Kallio and R. Norio. Cohen syndrome: Essential features, natural history, and heterogeneity. Am J Med Genet 102: 125-135, 2001. (Pubitemid 32674983)
-
(2001)
American Journal of Medical Genetics
, vol.102
, Issue.2
, pp. 125-135
-
-
Kivitie-Kallio, S.1
Norio, R.2
-
188
-
-
0030818179
-
Granulocytopenia in Cohen syndrome
-
S. Kivitie-Kallio, J. Rajantie, E. Juvonen, and R. Norio. Granulocytopenia in Cohen syndrome. Br J Haematol 98: 308-311, 1997. (Pubitemid 27345102)
-
(1997)
British Journal of Haematology
, vol.98
, Issue.2
, pp. 308-311
-
-
Kivitie-Kallio, S.1
Rajantie, J.2
Juvonen, E.3
Norio, R.4
-
189
-
-
0031131692
-
Periodontal Findings in Cohen Syndrome with Chronic Neutropenia
-
S. Alaluusua, S. Kivitie-Kallio, J. Wolf, M.L. Haavio, S. Asikainen, and S. Pirinen. Periodontal findings in Cohen syndrome with chronic neutropenia. J Periodontol 68: 473-478, 1997. (Pubitemid 127521202)
-
(1997)
Journal of Periodontology
, vol.68
, Issue.5
, pp. 473-478
-
-
Alaluusua, S.1
Kivitie-Kallio, S.2
Wolf, J.3
Haavio, M.-L.4
Asikainen, S.5
Pirinen, S.6
-
190
-
-
0031732790
-
Increased neutrophil adhesive capability in Cohen syndrome, an autosomal recessive disorder associated with granulocytopenia
-
O. Olivieri, S. Lombardi, C. Russo, and R. Corrocher. Increased neutrophil adhesive capability in Cohen syndrome, an autosomal recessive disorder associated with granulocytopenia. Haematologica 83: 778-782, 1998. (Pubitemid 28496165)
-
(1998)
Haematologica
, vol.83
, Issue.9
, pp. 778-782
-
-
Olivieri, O.1
Lombardi, S.2
Russo, C.3
Corrocher, R.4
-
191
-
-
0038353767
-
Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport
-
DOI 10.1086/375454
-
J. Kolehmainen, G.C. Black, A. Saarinen, K. Chandler, J. Clayton-Smith, A.L. Traskelin, et al. Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport. Am J Hum Genet 72: 1359-1369, 2003. (Pubitemid 36628377)
-
(2003)
American Journal of Human Genetics
, vol.72
, Issue.6
, pp. 1359-1369
-
-
Kolehmainen, J.1
Black, G.C.M.2
Saarinen, A.3
Chandler, K.4
Clayton-Smith, J.5
Traskelin, A.-L.6
Perveen, R.7
Kivitie-Kallio, S.8
Norio, R.9
Warburg, M.10
Fryns, J.-P.11
De La Chapelle, A.12
Lehesjoki, A.-E.13
-
192
-
-
3843101623
-
Analysis of the human VPS13 gene family
-
DOI 10.1016/j.ygeno.2004.04.012, PII S0888754304001156
-
A. Velayos-Baeza, A. Vettori, R.R. Copley, C. Dobson-Stone, and A.P.Monaco. Analysis of the human VPS13 gene family. Genomics 84: 536-549, 2004. (Pubitemid 39037164)
-
(2004)
Genomics
, vol.84
, Issue.3
, pp. 536-549
-
-
Velayos-Baeza, A.1
Vettori, A.2
Copley, R.R.3
Dobson-Stone, C.4
Monaco, A.P.5
-
193
-
-
12244255076
-
Severe chronic neutropenia: Treatment and follow-up of patients in the Severe Chronic Neutropenia International Registry
-
DOI 10.1002/ajh.10255
-
D.C. Dale, T.E. Cottle, C.J. Fier, A.A. Bolyard, M.A. Bonilla, L.A. Boxer, et al. Severe chronic neutropenia: Treatment and follow-up of patients in the Severe Chronic Neutropenia International Registry. Am J Hematol 72: 82-93, 2003. (Pubitemid 36164341)
-
(2003)
American Journal of Hematology
, vol.72
, Issue.2
, pp. 82-93
-
-
Dale, D.C.1
Cottle, T.E.2
Fier, C.J.3
Bolyard, A.A.4
Bonilla, M.A.5
Boxer, L.A.6
Cham, B.7
Freedman, M.H.8
Kannourakis, G.9
Kinsey, S.E.10
Davis, R.11
Scarlata, D.12
Schwinzer, B.13
Zeidler, C.14
Welte, K.15
-
194
-
-
0027269718
-
A randomized controlled phase III trial of recombinant human granulocyte colony-stimulating factor (filgrastim) for treatment of severe chronic neutropenia
-
D.C. Dale, M.A. Bonilla, M.W. Davis, A.M. Nakanishi, W.P. Hammond, J. Kurtzberg, et al. A randomized controlled phase III trial of recombinant human granulocyte colony-stimulating factor (filgrastim) for treatment of severe chronic neutropenia. Blood 81: 2496-2502, 1993. (Pubitemid 23147550)
-
(1993)
Blood
, vol.81
, Issue.10
, pp. 2496-2502
-
-
Dale, D.C.1
Bonilla, M.A.2
Davis, M.W.3
Nakanishi, A.M.4
Hammond, W.P.5
Kurtzberg, J.6
Wang, W.7
Jakubowski, A.8
Winton, E.9
Lalezari, P.10
Robinson, W.11
Glaspy, J.A.12
Emerson, S.13
Gabrilove, J.14
Vincent, M.15
Boxer, L.A.16
-
195
-
-
0024317186
-
Effects of recombinant human granulocyte colony-stimulating factor on neutropenia in patients with congenital agranulocytosis
-
M.A. Bonilla, A.P. Gillio, M. Ruggeiro, N.A. Kernan, J.A. Brochstein, M. Abboud, et al. Effects of recombinant human granulocyte colony-stimulating factor on neutropenia in patients with congenital agranulocytosis. N Engl J Med 320: 1574-1580, 1989. (Pubitemid 19154570)
-
(1989)
New England Journal of Medicine
, vol.320
, Issue.24
, pp. 1574-1580
-
-
Bonilla, M.A.1
Gillio, A.P.2
Ruggeiro, M.3
Kernan, N.A.4
Brochstein, J.A.5
Abboud, M.6
Fumagalli, L.7
Vincent, M.8
Gabrilove, J.L.9
Welte, K.10
Souza, L.M.11
O'Reilly, R.J.12
-
196
-
-
47049090395
-
Lessons from congenital neutropenia: 50 years of progress in understanding myelopoiesis
-
N. Berliner. Lessons from congenital neutropenia: 50 years of progress in understanding myelopoiesis. Blood 111: 5427-5432, 2008.
-
(2008)
Blood
, vol.111
, pp. 5427-5432
-
-
Berliner, N.1
-
197
-
-
0024358141
-
The kinetics of human granulopoiesis following treatment with granulocyte colony-stimulating factor in vivo
-
DOI 10.1073/pnas.86.23.9499
-
B.I. Lord, M.H. Bronchud, S. Owens, J. Chang, A. Howell, L. Souza, and T.M. Dexter. The kinetics of human granulopoiesis following treatment with granulocyte colony-stimulating factor in vivo. Proc Natl Acad Sci U S A 86: 9499-9503, 1989. (Pubitemid 20010454)
-
(1989)
Proceedings of the National Academy of Sciences of the United States of America
, vol.86
, Issue.23
, pp. 9499-9503
-
-
Lord, B.I.1
Bronchud, M.H.2
Owens, S.3
Chang, J.4
Howell, A.5
Souza, L.6
Dexter, T.M.7
-
198
-
-
0029976860
-
Biologic and clinical effects of granulocyte colony-stimulating factor in normal individuals
-
P. Anderlini, D. Przepiorka, R. Champlin, and M. Korbling. Biologic and clinical effects of granulocyte colony-stimulating factor in normal individuals. Blood 88: 2819-2825, 1996. (Pubitemid 26357361)
-
(1996)
Blood
, vol.88
, Issue.8
, pp. 2819-2825
-
-
Anderlini, P.1
Przepiorka, D.2
Champlin, R.3
Korbling, M.4
-
199
-
-
0029120127
-
Protection of human polymorphonuclear leukocyte function from the deleterious effects of isolation, irradiation, and storage by interferon-gamma and granulocytecolony- stimulating factor
-
J.H. Rex, S.C. Bhalla, D.M. Cohen, J.P. Hester, S.E. Vartivarian, and E.J. Anaissie. Protection of human polymorphonuclear leukocyte function from the deleterious effects of isolation, irradiation, and storage by interferon-gamma and granulocytecolony- stimulating factor. Transfusion 35: 605-611, 1995.
-
(1995)
Transfusion
, vol.35
, pp. 605-611
-
-
Rex, J.H.1
Bhalla, S.C.2
Cohen, D.M.3
Hester, J.P.4
Vartivarian, S.E.5
Anaissie, E.J.6
-
200
-
-
0037079734
-
Granulocyte colony-stimulating factor inhibits the mitochondria-dependent activation of caspase-3 in neutrophils
-
DOI 10.1182/blood.V99.2.672
-
N.A. Maianski, F.P. Mul, J.D. van Buul, D. Roos, and T.W. Kuijpers. Granulocyte colony-stimulating factor inhibits the mitochondria-dependent activation of caspase-3 in neutrophils. Blood 99: 672-679, 2002. (Pubitemid 34533107)
-
(2002)
Blood
, vol.99
, Issue.2
, pp. 672-679
-
-
Maianski, N.A.1
Mul, F.P.J.2
Van Buul, J.D.3
Roos, D.4
Kuijpers, T.W.5
-
201
-
-
0011982978
-
Myelodysplasia syndrome and acute myeloid leukemia in patients with congenital neutropenia receiving G-CSF therapy
-
M.H. Freedman, M.A. Bonilla, C. Fier, A.A. Bolyard, D. Scarlata, L.A. Boxer, et al. Myelodysplasia syndrome and acute myeloid leukemia in patients with congenital neutropenia receiving G-CSF therapy. Blood 96: 429-436, 2000. (Pubitemid 30463359)
-
(2000)
Blood
, vol.96
, Issue.2
, pp. 429-436
-
-
Freedman, M.H.1
Bonilla, M.A.2
Fier, C.3
Bolyard, A.A.4
Scarlata, D.5
Boxer, L.A.6
Brown, S.7
Cham, B.8
Kannourakis, G.9
Kinsey, S.E.10
Mori, P.G.11
Cottle, T.12
Welte, K.13
Dale, D.C.14
-
202
-
-
0034651925
-
Stem cell transplantation in patients with severe congenital neutropenia without evidence of leukemic transformation
-
C. Zeidler, K. Welte, Y. Barak, F. Barriga, A.A. Bolyard, L. Boxer, et al. Stem cell transplantation in patients with severe congenital neutropenia without evidence of leukemic transformation. Blood 95: 1195-1198, 2000. (Pubitemid 30099826)
-
(2000)
Blood
, vol.95
, Issue.4
, pp. 1195-1198
-
-
Zeidler, C.1
Welte, K.2
Barak, Y.3
Barriga, F.4
Bolyard, A.A.5
Boxer, L.6
Cornu, G.7
Cowan, M.J.8
Dale, D.C.9
Flood, T.10
Freedman, M.11
Gadner, H.12
Mandel, H.13
O'Reilly, R.J.14
Ramenghi, U.15
Reiter, A.16
Skinner, R.17
Vermylen, C.18
Levine, J.E.19
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