-
1
-
-
0030010018
-
Mature micromegakaryocytes: An unusual developmental pattern in term infants
-
Levine RF, Olson TA, Shoff PK, Miller MK, Weisman LE (1996) Mature micromegakaryocytes: An unusual developmental pattern in term infants. Br J Haematol 94: 391-399
-
(1996)
Br J Haematol
, vol.94
, pp. 391-399
-
-
Levine, R.F.1
Olson, T.A.2
Shoff, P.K.3
Miller, M.K.4
Weisman, L.E.5
-
2
-
-
84877152288
-
Thrombocytémie essentielle
-
13-020-B-05
-
Brière J (1995) Thrombocytémie essentielle. Encycl Med Chir Hématologie 13-020-B-05, p 10.
-
(1995)
Encycl Med Chir Hématologie
, pp. 10
-
-
Brière, J.1
-
3
-
-
84877111929
-
Syndromes myélodysplasiques
-
(Paris-France), Hématologie, 13012 A 10
-
Flandrin G, Lessard M (1991) Syndromes myélodysplasiques. Encycl Med Chir, (Paris-France), Hématologie, 13012 A 10, p 8.
-
(1991)
Encycl Med Chir
, pp. 8
-
-
Flandrin, G.1
Lessard, M.2
-
4
-
-
0021971421
-
Criteria for the diagnosis of acute leukaemia of megakaryocyte lineage A report of the French-American-British Cooperative Group
-
Benett JM, Catovsky D, Daniel MT, Flandrin G, Galton DA, Gralnick HR et al (1985) Criteria for the diagnosis of acute leukaemia of megakaryocyte lineage. A report of the French-American-British Cooperative Group, Ann Intern Med. 103:460-462.
-
(1985)
Ann Intern Med.
, vol.103
, pp. 460-462
-
-
Benett, J.M.1
Catovsky, D.2
Daniel, M.T.3
Flandrin, G.4
Galton, D.A.5
Gralnick, H.R.6
-
5
-
-
0035956293
-
Platelet gigantism associated with cholestyramine therapy
-
Latger-Cannard V, Sommelet D, Guerci B, Tréchot P, Lecompte T (2001) Platelet gigantism associated with cholestyramine therapy. Arch Intern Med 161:2619-2620
-
(2001)
Arch Intern Med
, vol.161
, pp. 2619-2620
-
-
Latger-Cannard, V.1
Sommelet, D.2
Guerci, B.3
Tréchot, P.4
Lecompte, T.5
-
6
-
-
0027213049
-
Giant platelets in erucic acid therapy for adrenoleukodystrophy
-
Stöckler S, Molzer B, Plecko B, Zen W, Muntean W, Söling U et al (1993) Giant platelets in erucic acid therapy for adrenoleukodystrophy. Lancet 341:1414-1415
-
(1993)
Lancet
, vol.341
, pp. 1414-1415
-
-
Stöckler, S.1
Molzer, B.2
Plecko, B.3
Zen, W.4
Muntean, W.5
Söling, U.6
-
7
-
-
0038777336
-
Inherited thrombocytopenias: A proposed diagnostic algorithm from the Italian Gruppo di Studio delle Piastrine
-
On Behalf Of The Italian "Gruppo di Studio delle Piastrine et a.l.
-
Balduini CL, Cattaneo M, Fabris F, Gresele P, Iolascon A, Pulcinelli FM, on behalf of the Italian "Gruppo di Studio delle Piastrine" et al (2003) Inherited thrombocytopenias: A proposed diagnostic algorithm from the Italian Gruppo di Studio delle Piastrine. Platelets 88:582-592
-
(2003)
Platelets
, vol.88
, pp. 582-592
-
-
Balduini, C.L.1
Cattaneo, M.2
Fabris, F.3
Gresele, P.4
Iolascon, A.5
Pulcinelli, F.M.6
-
8
-
-
0842330260
-
Inherited thrombocytopenias: Towards a molecular understanding of disorders of platelet production
-
Geddis AE, Kaushansky K (2004) Inherited thrombocytopenias: Towards a molecular understanding of disorders of platelet production. Curr Opin Pediatr 16:15-24
-
(2004)
Curr Opin Pediatr
, vol.16
, pp. 15-24
-
-
Geddis, A.E.1
Kaushansky, K.2
-
9
-
-
28344439804
-
Qualitative disorders of platelets and megakaryocytes
-
Nurden AT (2005) Qualitative disorders of platelets and megakaryocytes. J Thromb Haemost 3:1773-1782
-
(2005)
J Thromb Haemost
, vol.3
, pp. 1773-1782
-
-
Nurden, A.T.1
-
10
-
-
38949096839
-
Congenital disorders associated with platelet dysfunctions
-
Nurden P, Nurden AT (2008) Congenital disorders associated with platelet dysfunctions. Thromb Haemost 99:253-263
-
(2008)
Thromb Haemost
, vol.99
, pp. 253-263
-
-
Nurden, P.1
Nurden, A.T.2
-
11
-
-
29544451733
-
Thrombocytopenia: Clinicobiologic validation and classification
-
Latger-Cannard V, Salignac S, Salmon A, Mansuy L, de Maistre E, Botte C et al (2005) Thrombocytopenia: Clinicobiologic validation and classification. Ann Biol Clin 63:1-12
-
(2005)
Ann Biol Clin
, vol.63
, pp. 1-12
-
-
Latger-Cannard, V.1
Salignac, S.2
Salmon, A.3
Mansuy, L.4
De Maistre, E.5
Botte, C.6
-
12
-
-
0034234637
-
Autosomal dominant thrombocytopenia: Incomplete megakaryocyte differentiation and linkage to chromosome 10
-
Drachman JG, Jarvik GP, Mehaffey MG (2000) Autosomal dominant thrombocytopenia: Incomplete megakaryocyte differentiation and linkage to chromosome 10. Blood 96:118-125
-
(2000)
Blood
, vol.96
, pp. 118-125
-
-
Drachman, J.G.1
Jarvik, G.P.2
Mehaffey, M.G.3
-
13
-
-
78650879044
-
Mutations in the 5 -UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomaldominant form of inherited thrombocytopenia, THC2
-
Pipucci T, Savoia A, Perrotta S, Pujol-Moix N, Noris P, Castegnaro G et al (2011) Mutations in the 5 -UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomaldominant form of inherited thrombocytopenia, THC2. Am J Hum Genet 88:115-120
-
(2011)
Am J Hum Genet
, vol.88
, pp. 115-120
-
-
Pipucci, T.1
Savoia, A.2
Perrotta, S.3
Pujol-Moix, N.4
Noris, P.5
Castegnaro, G.6
-
14
-
-
33644795087
-
Congenital amegakaryocytic thrombocytopenia: A retrospective clinical analysis of 20 patients
-
King S, Germeshausen M, Strauss G, Welte K, Ballmaier M (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
Welte, K.4
Ballmaier, M.5
-
15
-
-
0036916738
-
Thrombocytopenia-absent radius syndrome: A clinical genetic study
-
Greenhalgh K, Howell R, Bottani A, Ancliff P, Brunner H, Verschuuren-Bemelmans C 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.1
Howell, R.2
Bottani, A.3
Ancliff, P.4
Brunner, H.5
Verschuuren-Bemelmans, C.6
-
16
-
-
48349142469
-
Clinical phenotype of germline RUNX1 haploinsuf fi ciency: From point mutations to large genomic deletions
-
Béri-Dexheimer M, Latger-Cannard V, Philippe C, Bonnet C, Chambon P et al (2008) Clinical phenotype of germline RUNX1 haploinsuf fi ciency: From point mutations to large genomic deletions. Eur J Hum Genet 16:1014-1018
-
(2008)
Eur J Hum Genet
, vol.16
, pp. 1014-1018
-
-
Béri-Dexheimer, M.1
Latger-Cannard, V.2
Philippe, C.3
Bonnet, C.4
Chambon, P.5
-
17
-
-
56749146245
-
A Wiskott-Aldrich syndrome revealed by a careful morphological examination of the platelets in a child
-
Latger-Cannard V, Proust A, Devignes J, Salignac S, Bensoussan D, Salmon A et al (2008) A Wiskott-Aldrich syndrome revealed by a careful morphological examination of the platelets in a child. Hématologie 14:387-391
-
(2008)
Hématologie
, vol.14
, pp. 387-391
-
-
Latger-Cannard, V.1
Proust, A.2
Devignes, J.3
Salignac, S.4
Bensoussan, D.5
Salmon, A.6
-
18
-
-
2642584104
-
Frequency of thrombocytopenia and large platelets correlate neither with conotruncal cardiac anomalies nor immunologic features in chromosome 22q11.2 deletion syndrome
-
Latger-Cannard V, Bensoussan D, Grégoire MJ, Marçon F, Cloez JL, Leheup B et al (2004) Frequency of thrombocytopenia and large platelets correlate neither with conotruncal cardiac anomalies nor immunologic features in chromosome 22q11.2 deletion syndrome. Eur J Pediatrics 163:327-328
-
(2004)
Eur J Pediatrics
, vol.163
, pp. 327-328
-
-
Latger-Cannard, V.1
Bensoussan, D.2
Grégoire, M.J.3
Marçon, F.4
Cloez, J.L.5
Leheup, B.6
-
19
-
-
36949010142
-
Heterozygous loss of platelet glycoprotein (GP) Ib-V-IX variably affects platelet function in velocardiofacial syndrome (VCFS) patients
-
Liang HP, Morel-Kopp MC, Curtin J, Wilson M, Hewson J, Chen W et al (2007) Heterozygous loss of platelet glycoprotein (GP) Ib-V-IX variably affects platelet function in velocardiofacial syndrome (VCFS) patients. Thromb Haemost 98:1298-1308
-
(2007)
Thromb Haemost
, vol.98
, pp. 1298-1308
-
-
Liang, H.P.1
Morel-Kopp, M.C.2
Curtin, J.3
Wilson, M.4
Hewson, J.5
Chen, W.6
-
20
-
-
0025141664
-
Genetic thrombocytopenia with autosomal dominant transmission: A review of 54 cases
-
Najean Y, Lecompte T (1990) Genetic thrombocytopenia with autosomal dominant transmission: A review of 54 cases. Br J Haematol 74:203-208
-
(1990)
Br J Haematol
, vol.74
, pp. 203-208
-
-
Najean, Y.1
Lecompte, T.2
-
21
-
-
0035282727
-
Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome
-
Savoia A, Balduini CL, Savino M, Noris P, Del Vecchio M, Perrotta S 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
Noris, P.4
Del Vecchio, M.5
Perrotta, S.6
-
22
-
-
55149090480
-
Human phenotypes associated with GATA-1 mutations
-
Ciovacco W, Raskind W, Kacena M (2008) Human phenotypes associated with GATA-1 mutations. Genet 427:1-6
-
(2008)
Genet
, vol.427
, pp. 1-6
-
-
Ciovacco, W.1
Raskind, W.2
Kacena, M.3
-
23
-
-
33846963188
-
Haematological characteristics of MYH9 disorders due to MYH9 R702 mutations
-
Kunishima S, Yoshinari M, Nishio H, Ida K, Miura T, Matsushita T et al (2007) Haematological characteristics of MYH9 disorders due to MYH9 R702 mutations. Eur J Haematol 78:220-226
-
(2007)
Eur J Haematol
, vol.78
, pp. 220-226
-
-
Kunishima, S.1
Yoshinari, M.2
Nishio, H.3
Ida, K.4
Miura, T.5
Matsushita, T.6
-
24
-
-
0037245023
-
Immuno fl uorescence analysis of neutrophil Non Muscle Myosin Heavy Chain-A in MYH9 disorders: Association of subcellular localization with MYH9 mutations
-
Kunishima S, Matsushita T, Kojima T, Sako M, Kimura F, Jo E-K et al (2003) Immuno fl uorescence analysis of neutrophil Non Muscle Myosin Heavy Chain-A in MYH9 disorders: Association of subcellular localization with MYH9 mutations. Lab Invest 83:115-122
-
(2003)
Lab Invest
, vol.83
, pp. 115-122
-
-
Kunishima, S.1
Matsushita, T.2
Kojima, T.3
Sako, M.4
Kimura, F.5
Jo, E.-K.6
-
25
-
-
40549091624
-
Position of nonmuscle myosin heavy chain IIA mutations predicts the natural history of MYH9-related disease
-
Pecci A, Panza E, Pujol-Moix N, Klersy C, Di Bari F, Bozzi V et al (2008) Position of nonmuscle myosin heavy chain IIA mutations predicts the natural history of MYH9-related disease. Hum Mutat 29:409-417
-
(2008)
Hum Mutat
, vol.29
, pp. 409-417
-
-
Pecci, A.1
Panza, E.2
Pujol-Moix, N.3
Klersy, C.4
Di Bari, F.5
Bozzi, V.6
-
26
-
-
77949484131
-
MYH9 related disease: Four novel mutations of the tail domain of myosin-9 correlating with a mild clinical phenotype
-
Pecci A, Panza E, De Rocco D, Pujol-Moix N, Girotto G, Podda L et al (2009) MYH9 related disease: Four novel mutations of the tail domain of myosin-9 correlating with a mild clinical phenotype. Eur J Haematol 84:291-297
-
(2009)
Eur J Haematol
, vol.84
, pp. 291-297
-
-
Pecci, A.1
Panza, E.2
De Rocco, D.3
Pujol-Moix, N.4
Girotto, G.5
Podda, L.6
-
27
-
-
40849094586
-
Mediterranean macrothrombocytopenia and phytosterolaemia/sitosterolaemia
-
Stewart GW, Makris M (2008) Mediterranean macrothrombocytopenia and phytosterolaemia/sitosterolaemia. Haematologica 93:e29
-
(2008)
Haematologica
, vol.93
-
-
Stewart, G.W.1
Makris, M.2
-
28
-
-
24944465805
-
Stomatocytic haemolysis and macrothrombocytopenia (Mediterranean stomatocytosis/macrothrombocytopenia) is the haematological presentation of phytosterolaemia
-
Rees DC, Iolascon A, Carella M, O'marcaigh AS, Kendra JR, Jowitt SN et al (2005) Stomatocytic haemolysis and macrothrombocytopenia (Mediterranean stomatocytosis/macrothrombocytopenia) is the haematological presentation of phytosterolaemia. Br J Haematol 130:297-309
-
(2005)
Br J Haematol
, vol.130
, pp. 297-309
-
-
Rees, D.C.1
Iolascon, A.2
Carella, M.3
O'marcaigh, A.S.4
Kendra, J.R.5
Jowitt, S.N.6
-
29
-
-
33750623252
-
Impaired megakaryocytopoiesis in type 2B Willebrand disease with severe thrombocytopenia
-
Nurden P, Debili N, Vainchenker W, Bobe R, Bredoux R, Corvazier E et al (2006) Impaired megakaryocytopoiesis in type 2B Willebrand disease with severe thrombocytopenia. Blood 108:2587-2595
-
(2006)
Blood
, vol.108
, pp. 2587-2595
-
-
Nurden, P.1
Debili, N.2
Vainchenker, W.3
Bobe, R.4
Bredoux, R.5
Corvazier, E.6
-
30
-
-
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
-
31
-
-
33846201270
-
The gray platelet syndrome: Clinical spectrum of the disease
-
Nurden AT, Nurden P (2007) The gray platelet syndrome: Clinical spectrum of the disease. Blood Rev 21:21-36
-
(2007)
Blood Rev
, vol.21
, pp. 21-36
-
-
Nurden, A.T.1
Nurden, P.2
-
32
-
-
79960921968
-
NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet alpha-granules
-
Gunay-Agun M, Falik-Zaccai TC, Vilboux T, Zivony-Elboum Y, Gumruk F, Cetin M et al (2011) NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet alpha-granules. Nat Genet 43:732-734
-
(2011)
Nat Genet
, vol.43
, pp. 732-734
-
-
Gunay-Agun, M.1
Falik-Zaccai, T.C.2
Vilboux, T.3
Zivony-Elboum, Y.4
Gumruk, F.5
Cetin, M.6
-
33
-
-
79960903114
-
Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome
-
Fabbro S, Hinckley J, Li L, Schwertz H, Christensen H, Rowley JW et al (2011) Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome. Nat Genet 43:738-740
-
(2011)
Nat Genet
, vol.43
, pp. 738-740
-
-
Fabbro, S.1
Hinckley, J.2
Li, L.3
Schwertz, H.4
Christensen, H.5
Rowley, J.W.6
-
34
-
-
79960895154
-
Exome sequencing identi fi es NBEAL2 gene as the causative gene for gray platelet syndrome
-
Albers CA, Cvejic A, Favier R, Bouwmans EE, Alessi MC, Bertone P et al (2011) Exome sequencing identi fi es NBEAL2 gene as the causative gene for gray platelet syndrome. Nat Genet 43:735-737
-
(2011)
Nat Genet
, vol.43
, pp. 735-737
-
-
Albers, C.A.1
Cvejic, A.2
Favier, R.3
Bouwmans, E.E.4
Alessi, M.C.5
Bertone, P.6
-
35
-
-
0015707559
-
An (11;21) translocation in four generation with chromosome 11 abnormalities in the offspring. A clinical, cytogenetical and gene marker study
-
Jacobsen P, Hauge M, Henningsen K (1973) An (11;21) translocation in four generation 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
-
36
-
-
0242606428
-
Paris-Trousseau syndrome: Clinical, hematological, molecular data of ten new cases
-
Favier R, Jondeau K, Boutard P, Grossfeld P, Reinert P, Jones C et al (2003) Paris-Trousseau syndrome: Clinical, hematological, molecular data of ten new cases. Thromb Haemost 90:893-897
-
(2003)
Thromb Haemost
, vol.90
, pp. 893-897
-
-
Favier, R.1
Jondeau, K.2
Boutard, P.3
Grossfeld, P.4
Reinert, P.5
Jones, C.6
-
37
-
-
0028952956
-
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, Cherif D, Berger R, Debili N et al (1995) New congenital dysmegakaryopoietic thrombocytopenia (Paris-Trousseau) associated with giant platelet alpha-granules and chromosome 11 deletion at 11q23. Blood 85:1805-114
-
(1995)
Blood
, vol.85
, pp. 1805-1124
-
-
Breton-Gorius, J.1
Favier, R.2
Guichard, J.3
Cherif, D.4
Berger, R.5
Debili, N.6
-
38
-
-
36348969003
-
Prenatal diagnosis of mosaïcism for 11q terminal deletion
-
Valduga M, Latger-Cannard V, Philippe C, Romana S, Miton A, Droulle P et al (2007) Prenatal diagnosis of mosaïcism for 11q terminal deletion. Eur J Med Genet 50: 475-481
-
(2007)
Eur J Med Genet
, vol.50
, pp. 475-481
-
-
Valduga, M.1
Latger-Cannard, V.2
Philippe, C.3
Romana, S.4
Miton, A.5
Droulle, P.6
|