-
2
-
-
0035170042
-
Rothmund-Thomson syndrome (Thomson-type) and myelodysplasia
-
DOI 10.1046/j.1525-1470.2001.01971.x
-
Pianigiani E, De Aloe G, Andreassi A, et al., Rothmund-Thomson syndrome (Thomson-type) and myelodysplasia. Pediatr Dermatol 2001; 18: 422-425. (Pubitemid 33070712)
-
(2001)
Pediatric Dermatology
, vol.18
, Issue.5
, pp. 422-425
-
-
Pianigiani, E.1
De Aloe, G.2
Andreassi, A.3
Rubegni, P.4
Fimiani, M.5
-
3
-
-
0042321147
-
Absence of RECQL4 mutations in poikiloderma with neutropenia in Navajo and non-Navajo patients [3]
-
Wang LL, Gannavarapu A, Clericuzio CL, et al., Absence of RECQL4 mutations in poikiloderma with neutropenia in Navajo and non-Navajo patients. Am J Med Genet A 2003; 118A: 299-301. (Pubitemid 37063944)
-
(2003)
American Journal of Medical Genetics
, vol.118
, Issue.3 A
, pp. 299-301
-
-
Wang, L.L.1
Gannavarapu, A.2
Clericuzio, C.L.3
Erickson, R.P.4
Irvine, A.D.5
Plon, S.E.6
-
4
-
-
11844249949
-
Clericuzio type poikiloderma with neutropenia is distinct from Rothmund-Thomson syndrome
-
DOI 10.1002/ajmg.a.30430
-
Van Hove JL, Jaeken J, Proesmans M, et al., Clericuzio type poikiloderma with neutropenia is distinct from Rothmund-Thomson syndrome. Am J Med Genet A 2005; 132A: 152-158. (Pubitemid 40093323)
-
(2005)
American Journal of Medical Genetics
, vol.132 A
, Issue.2
, pp. 152-158
-
-
Van Hove, J.L.K.1
Jaeken, J.2
Proesmans, M.3
De Boeck, K.4
Minner, K.5
Matthijs, G.6
Verbeken, E.7
Demunter, A.8
Boogaerts, M.9
-
5
-
-
55849088400
-
Poikiloderma with neutropenia, Clericuzio type, in a family from Morocco
-
Mostefai R, Morice-Picard F, Boralevi F, et al., Poikiloderma with neutropenia, Clericuzio type, in a family from Morocco. Am J Med Genet A 2008; 146A: 2762-2769.
-
(2008)
Am J Med Genet A
, vol.146 A
, pp. 2762-2769
-
-
Mostefai, R.1
Morice-Picard, F.2
Boralevi, F.3
-
6
-
-
73149112435
-
Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia gene
-
Volpi L, Roversi G, Colombo EA, et al., Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia gene. Am J Hum Genet 2010; 86: 72-76.
-
(2010)
Am J Hum Genet
, vol.86
, pp. 72-76
-
-
Volpi, L.1
Roversi, G.2
Colombo, E.A.3
-
7
-
-
78349244790
-
Clericuzio-type poikiloderma with neutropenia syndrome in three sibs with mutations in the C16orf57 gene: Delineation of the phenotype
-
Concolino D, Roversi G, Muzzi GL, et al., Clericuzio-type poikiloderma with neutropenia syndrome in three sibs with mutations in the C16orf57 gene: delineation of the phenotype. Am J Med Genet A 2010; 152A: 2588-2594.
-
(2010)
Am J Med Genet A
, vol.152 A
, pp. 2588-2594
-
-
Concolino, D.1
Roversi, G.2
Muzzi, G.L.3
-
8
-
-
77957026619
-
Poikiloderma with neutropenia: A novel C16orf57 mutation and clinical diagnostic criteria
-
Arnold AW, Itin PH, Pigors M, et al., Poikiloderma with neutropenia: a novel C16orf57 mutation and clinical diagnostic criteria. Br J Dermatol 2010; 163: 866-869.
-
(2010)
Br J Dermatol
, vol.163
, pp. 866-869
-
-
Arnold, A.W.1
Itin, P.H.2
Pigors, M.3
-
9
-
-
79251528583
-
Identification of a novel C16orf57 mutation in Athabaskan patients with Poikiloderma with Neutropenia
-
Clericuzio C, Harutyunyan K, Jin W, et al., Identification of a novel C16orf57 mutation in Athabaskan patients with Poikiloderma with Neutropenia. Am J Med Genet A 2011; 155: 337-342.
-
(2011)
Am J Med Genet A
, vol.155
, pp. 337-342
-
-
Clericuzio, C.1
Harutyunyan, K.2
Jin, W.3
-
10
-
-
77952762745
-
Identification of a homozygous deletion mutation in C16orf57 in a family with Clericuzio-type poikiloderma with neutropenia
-
Tanaka A, Morice-Picard F, Lacombe D, et al., Identification of a homozygous deletion mutation in C16orf57 in a family with Clericuzio-type poikiloderma with neutropenia. Am J Med Genet A 2010; 152A: 1347-1348.
-
(2010)
Am J Med Genet A
, vol.152 A
, pp. 1347-1348
-
-
Tanaka, A.1
Morice-Picard, F.2
Lacombe, D.3
-
11
-
-
0038288850
-
Association between osteosarcoma and deleterious mutations in the RECQL4 gene Rothmund-Thomson syndrome
-
Wang LL, Gannavarapu A, Kozinetz CA, et al., Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome. J Natl Cancer Inst 2003; 95: 669-674. (Pubitemid 36603723)
-
(2003)
Journal of the National Cancer Institute
, vol.95
, Issue.9
, pp. 669-674
-
-
Wang, L.L.1
Gannavarapu, A.2
Kozinetz, C.A.3
Levy, M.L.4
Lewis, R.A.5
Chintagumpala, M.M.6
Ruiz-Maldanado, R.7
Contreras-Ruiz, J.8
Cunniff, C.9
Erickson, R.P.10
Lev, D.11
Rogers, M.12
Zackai, E.H.13
Plon, S.E.14
|