| 1 |
A novel CYCS mutation in the α-helix of the CYCS C-terminal domain causes non-syndromic thrombocytopenia.
6
|
Uchiyama Y...Mizuguchi T
|
30051457 |
2018 |
| 2 |
ANKRD26-Related Thrombocytopenia
6
|
Perez Botero J...Anderson MW
|
29927566 |
2018 |
| 3 |
Deleterious mutation in the FYB gene is associated with congenital autosomal recessive small-platelet thrombocytopenia.
6
|
Levin C...Shalev S
|
25876182 |
2015 |
| 4 |
Recessive thrombocytopenia likely due to a homozygous pathogenic variant in the FYB gene: case report.
6
|
Hamamy H...Antonarakis SE
|
25516138 |
2014 |
| 5 |
Mutations of cytochrome c identified in patients with thrombocytopenia THC4 affect both apoptosis and cellular bioenergetics.
6
|
De Rocco D...Savoia A
|
24326104 |
2014 |
| 6 |
Thrombocytopenias due to gray platelet syndrome or THC2 mutations.
6
|
Di Paola J...Johnson J
|
22102272 |
2011 |
| 7 |
Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2.
6
|
Pippucci T...Balduini CL
|
21211618 |
2011 |
| 8 |
A mutation in the acyl-coenzyme A binding domain-containing protein 5 gene (ACBD5 ) identified in autosomal dominant thrombocytopenia.
6
|
Punzo F...Perrotta S
|
20626622 |
2010 |
| 9 |
In vivo inactivation of MASTL kinase results in thrombocytopenia.
6
|
Johnson HJ...Drachman JG
|
19460416 |
2009 |
| 10 |
A mutation of human cytochrome c enhances the intrinsic apoptotic pathway but causes only thrombocytopenia.
6
|
Morison IM...Ledgerwood EC
|
18345000 |
2008 |
| 11 |
WAS-Related Disorders
6
|
Chandra S...Zhang K
|
20301357 |
2004 |
| 12 |
FLJ14813 missense mutation: a candidate for autosomal dominant thrombocytopenia on human chromosome 10.
6
|
Gandhi MJ...Drachman JG
|
12890928 |
2003 |
| 13 |
X-linked thrombocytopenia in a girl.
6
|
Inoue H...Eguchi M
|
12199801 |
2002 |
| 14 |
Missense C168T in the Wiskott--Aldrich Syndrome protein gene is a common mutation in X-linked thrombocytopenia.
6
|
Ho LL...Joshua D
|
11167787 |
2001 |
| 15 |
Autosomal dominant thrombocytopenia: incomplete megakaryocyte differentiation and linkage to human chromosome 10.
6
|
Drachman JG...Mehaffey MG
|
10891439 |
2000 |
| 16 |
An autosomal dominant thrombocytopenia gene maps to chromosomal region 10p.
6
|
Savoia A...Iolascon A
|
10521306 |
1999 |
| 17 |
Scanning of the Wiskott-Aldrich syndrome (WAS) gene: identification of 18 novel alterations including a possible mutation hotspot at Arg86 resulting in thrombocytopenia, a mild WAS phenotype.
6
|
Kwan SP...Rosen FS
|
8595430 |
1995 |
| 18 |
The mouse homolog of the Wiskott-Aldrich syndrome protein (WASP) gene is highly conserved and maps near the scurfy (sf) mutation on the X chromosome.
6
|
Derry JM...Francke U
|
8666397 |
1995 |
| 19 |
X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene.
6
|
Villa A...Sacco MG
|
7795648 |
1995 |
Rare haematological diseases