-
1
-
-
0038777336
-
Inherited thrombocytopenias: A proposed diagnostic algorithm from the Italian Gruppo di Studio delle Piastrine
-
Balduini CL, Cattaneo M, Fabris F et al. (2003) Inherited thrombocytopenias: a proposed diagnostic algorithm from the Italian Gruppo di Studio delle Piastrine. Haematologica 88: 582-592
-
(2003)
Haematologica
, vol.88
, pp. 582-592
-
-
Balduini, C.L.1
Cattaneo, M.2
Fabris, F.3
-
2
-
-
0035174334
-
c-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia
-
Ballmaier M, Germeshausen M, Schulze H et al. (2001) c-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia. Blood 97: 139-146
-
(2001)
Blood
, vol.97
, pp. 139-146
-
-
Ballmaier, M.1
Germeshausen, M.2
Schulze, H.3
-
3
-
-
0028952956
-
A new congenital dysmegakaryopoietic thrombocytopenia (Paris-Trousseau) associated with giant platelet alpha-granules and chromosome 11 deletion at 11q23
-
Breton-Gorius J, Favier R, Guichard J et al. (1995) A new congenital dysmegakaryopoietic thrombocytopenia (Paris-Trousseau) associated with giant platelet alpha-granules and chromosome 11 deletion at 11q23. Blood 85: 1805-1814
-
(1995)
Blood
, vol.85
, pp. 1805-1814
-
-
Breton-Gorius, J.1
Favier, R.2
Guichard, J.3
-
4
-
-
0027937223
-
Isolation of a novel gene mutated in Wiskott-Aldrich-Syndrome
-
Derry JMJ, Ochs HD, Francke U (1994) Isolation of a novel gene mutated in Wiskott-Aldrich-Syndrome. Cell 78: 635-644
-
(1994)
Cell
, vol.78
, pp. 635-644
-
-
Derry, J.M.J.1
Ochs, H.D.2
Francke, U.3
-
5
-
-
0021998315
-
Studies of a familial platelet disorder
-
Dowton SB, Beardsley D, Jamison D et al. (1985) Studies of a familial platelet disorder. Blood 65: 557-563
-
(1985)
Blood
, vol.65
, pp. 557-563
-
-
Dowton, S.B.1
Beardsley, D.2
Jamison, D.3
-
6
-
-
33745693042
-
MPL mutations in 23 patients suffering from congenital amegakaryocytic thrombocytopenia: The type of mutation predicts the course of the disease
-
Germeshausen M, Ballmaier M, Welte K (2006) MPL mutations in 23 patients suffering from congenital amegakaryocytic thrombocytopenia: the type of mutation predicts the course of the disease. Hum Mutat 27: 296
-
(2006)
Hum Mutat
, vol.27
, pp. 296
-
-
Germeshausen, M.1
Ballmaier, M.2
Welte, K.3
-
8
-
-
0036916738
-
Thrombocytopenia-absent radius syndrome: A clinical genetic study
-
Greenhalgh KL, Howell RT, Bottani A et al. (2002) Thrombocytopenia-absent radius syndrome: a clinical genetic study. J Med Genet 39: 876-881
-
(2002)
J Med Genet
, vol.39
, pp. 876-881
-
-
Greenhalgh, K.L.1
Howell, R.T.2
Bottani, A.3
-
9
-
-
0014605655
-
Thrombocytopenia with absent radius (TAR)
-
Baltimore
-
Hall JG, Levin J, Kuhn JP et al. (1969) Thrombocytopenia with absent radius (TAR). Medicine (Baltimore) 48: 411-439
-
(1969)
Medicine
, vol.48
, pp. 411-439
-
-
Hall, J.G.1
Levin, J.2
Kuhn, J.P.3
-
10
-
-
0014755402
-
Congenital hypoplastic thrombocytopenia and cerebral malformations in two brothers
-
Hoyeraal HM, Lamvik J, Moe PJ (1970) Congenital hypoplastic thrombocytopenia and cerebral malformations in two brothers. Acta Paediatr Scand 59: 185-191
-
(1970)
Acta Paediatr Scand
, vol.59
, pp. 185-191
-
-
Hoyeraal, H.M.1
Lamvik, J.2
Moe, P.J.3
-
11
-
-
0023731072
-
A syndrome of progressive pancytopenia with microcephaly, cerebellar hypoplasia and growth failure
-
Hreidarsson S, Kristjansson K, Johannesson G et al. (1988) A syndrome of progressive pancytopenia with microcephaly, cerebellar hypoplasia and growth failure. Acta Paediatr Scand 77: 773-775
-
(1988)
Acta Paediatr Scand
, vol.77
, pp. 773-775
-
-
Hreidarsson, S.1
Kristjansson, K.2
Johannesson, G.3
-
12
-
-
0033019932
-
Identification of mutations in the c-mpl gene in congenital amegakaryocytic thrombocytopenia
-
USA
-
Ihara K, Ishii E, Eguchi M et al. (1999) Identification of mutations in the c-mpl gene in congenital amegakaryocytic thrombocytopenia. Proc Natl Acad Sci USA 96: 3132-3136
-
(1999)
Proc Natl Acad Sci
, vol.96
, pp. 3132-3136
-
-
Ihara, K.1
Ishii, E.2
Eguchi, M.3
-
13
-
-
0015707559
-
An (11;21) translocation in four generations with chromosome 11 abnormalities in the offspring. A clinical, cytogenetical, and gene marker study
-
Jacobsen P, Hauge M, Henningsen K et al. (1973) An (11;21) translocation in four generations with chromosome 11 abnormalities in the offspring. A clinical, cytogenetical, and gene marker study. Hum Hered 23: 568-585
-
(1973)
Hum Hered
, vol.23
, pp. 568-585
-
-
Jacobsen, P.1
Hauge, M.2
Henningsen, K.3
-
14
-
-
33644795087
-
Congenital amegakaryocytic thrombocytopenia: A retrospective clinical analysis of 20 patients
-
King S, Germeshausen M, Strauss G et al. (2005) Congenital amegakaryocytic thrombocytopenia: a retrospective clinical analysis of 20 patients. Br J Haematol 131: 636-644
-
(2005)
Br J Haematol
, vol.131
, pp. 636-644
-
-
King, S.1
Germeshausen, M.2
Strauss, G.3
-
15
-
-
0032705706
-
Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1
-
Knight SW, Heiss NS, Vulliamy TJ et al. (1999) Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1. Br J Haematol 107: 335-339
-
(1999)
Br J Haematol
, vol.107
, pp. 335-339
-
-
Knight, S.W.1
Heiss, N.S.2
Vulliamy, T.J.3
-
16
-
-
0009868030
-
Etudes sur une thrombopathie familiale
-
Lacombe M, D AG (1963) Etudes sur une thrombopathie familiale. Nouv Rev Fr Hematol 270: 611-614
-
(1963)
Nouv Rev Fr Hematol
, vol.270
, pp. 611-614
-
-
Lacombe, M.1
Angelo, D.G.2
-
18
-
-
0025896722
-
Mutation in the gene encoding the alpha chain of platelet glycoprotein Ib in platelet-type von Willebrand disease
-
USA
-
Miller JL, Cunningham D, Lyle VA et al. (1991) Mutation in the gene encoding the alpha chain of platelet glycoprotein Ib in platelet-type von Willebrand disease. Proc Natl Acad Sci USA 88: 4761-4765
-
(1991)
Proc Natl Acad Sci
, vol.88
, pp. 4761-4765
-
-
Miller, J.L.1
Cunningham, D.2
Lyle, V.A.3
-
19
-
-
0021324548
-
Spontaneous platelet aggregation in a hereditary giant platelet syndrome (MPS)
-
Milton JG, Frojmovic MM, Tang SS et al. (1984) Spontaneous platelet aggregation in a hereditary giant platelet syndrome (MPS). Am J Pathol 114: 336-345
-
(1984)
Am J Pathol
, vol.114
, pp. 336-345
-
-
Milton, J.G.1
Frojmovic, M.M.2
Tang, S.S.3
-
20
-
-
0034052854
-
Familial dyserythropoietic anaemia and thrombocytotopenia dua to an in inherited mutation in GATA1
-
Nichols KE, Crispino JD, Poncz M et al. (2000) Familial dyserythropoietic anaemia and thrombocytotopenia dua to an in inherited mutation in GATA1. Nat Genet 24: 266-270
-
(2000)
Nat Genet
, vol.24
, pp. 266-270
-
-
Nichols, K.E.1
Crispino, J.D.2
Poncz, M.3
-
21
-
-
0036252130
-
The Wiskott-Aldrich syndrome
-
Ochs HD (2002) The Wiskott-Aldrich syndrome. Isr Med Assoc J 4: 379-384
-
(2002)
Isr Med Assoc J
, vol.4
, pp. 379-384
-
-
Ochs, H.D.1
-
22
-
-
0015176866
-
Gray platelet syndrome. A variety of qualitative platelet disorder
-
Raccuglia G (1971) Gray platelet syndrome. A variety of qualitative platelet disorder. Am J Med 51: 818-828
-
(1971)
Am J Med
, vol.51
, pp. 818-828
-
-
Raccuglia, G.1
-
23
-
-
85047689917
-
FLI1 monoallelic expression combined with its hemizygous loss underlies Paris-Trousseau/Jacobsen thrombopenia
-
Raslova H, Komura E, Le Couedic JP et al. (2004) FLI1 monoallelic expression combined with its hemizygous loss underlies Paris-Trousseau/Jacobsen thrombopenia. J Clin Invest 114: 77-84
-
(2004)
J Clin Invest
, vol.114
, pp. 77-84
-
-
Raslova, H.1
Komura, E.2
Le Couedic, J.P.3
-
24
-
-
0035282727
-
Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome
-
Savoia A, Balduini CL, Savino M et al. (2001) Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome. Blood 97: 1330-1335
-
(2001)
Blood
, vol.97
, pp. 1330-1335
-
-
Savoia, A.1
Balduini, C.L.2
Savino, M.3
-
25
-
-
0033361888
-
An autosomal dominant thrombocytopenia gene maps to chromosomal region 10p
-
Savoia A, Del Vecchio M, Totaro A et al. (1999) An autosomal dominant thrombocytopenia gene maps to chromosomal region 10p. Am J Hum Genet 65: 1401-1405
-
(1999)
Am J Hum Genet
, vol.65
, pp. 1401-1405
-
-
Savoia, A.1
Del Vecchio, M.2
Totaro, A.3
-
26
-
-
0037910378
-
MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness
-
Baltimore
-
Seri M, Pecci A, Di Bari F et al. (2003) MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness. Medicine (Baltimore) 82: 203-215
-
(2003)
Medicine
, vol.82
, pp. 203-215
-
-
Seri, M.1
Pecci, A.2
Di Bari, F.3
-
27
-
-
0032830638
-
Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia
-
Song WJ, Sullivan MG, Legare RD et al. (1999) Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia. Nat Genet 23: 166-175
-
(1999)
Nat Genet
, vol.23
, pp. 166-175
-
-
Song, W.J.1
Sullivan, M.G.2
Legare, R.D.3
-
28
-
-
0033662329
-
Amegakaryocytic thrombocytopenia and radio-ulnar synostosis are associated with HOXA11 mutation
-
Thompson AA, Nguyen LT (2000) Amegakaryocytic thrombocytopenia and radio-ulnar synostosis are associated with HOXA11 mutation. Nat Genet 26: 397-398
-
(2000)
Nat Genet
, vol.26
, pp. 397-398
-
-
Thompson, A.A.1
Nguyen, L.T.2
-
29
-
-
0028937177
-
X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene
-
Villa A, Notarangelo L, Macchi P et al. (1995) X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene. Nat Genet 9: 414-417
-
(1995)
Nat Genet
, vol.9
, pp. 414-417
-
-
Villa, A.1
Notarangelo, L.2
Macchi, P.3
-
30
-
-
0037105495
-
X-linked thrombocytopenia with thalassemia from a mutation in the amino finger of GATA-1 affecting DNA binding rather than FOG-1 interaction
-
Yu C, Niakan KK, Matsushita M et al. (2002) X-linked thrombocytopenia with thalassemia from a mutation in the amino finger of GATA-1 affecting DNA binding rather than FOG-1 interaction. Blood 100: 2040-2045
-
(2002)
Blood
, vol.100
, pp. 2040-2045
-
-
Yu, C.1
Niakan, K.K.2
Matsushita, M.3
|