139 related articles for article (PubMed ID: 24934643)
41. Molecular characterization of two Malaysian patients with Wiskott-Aldrich syndrome.
Baharin MF; Kader Ibrahim SB; Yap SH; Abdul Manaf AM; Mat Ripen A; Dhaliwal JS
Malays J Pathol; 2015 Aug; 37(2):153-8. PubMed ID: 26277674
[TBL] [Abstract][Full Text] [Related]
42. Inherited thrombocytopenias: history, advances and perspectives.
Nurden AT; Nurden P
Haematologica; 2020 Aug; 105(8):2004-2019. PubMed ID: 32527953
[TBL] [Abstract][Full Text] [Related]
43. Novel Compound Heterozygous Mutations in Two Families With Bernard-Soulier Syndrome.
Minkov M; Zeitlhofer P; Zoubek A; Kager L; Panzer S; Haas OA
Front Pediatr; 2020; 8():589812. PubMed ID: 33553065
[No Abstract] [Full Text] [Related]
44. Gene of the issue: GP1BA gene mutations associated with bleeding.
Othman M; Emsley J
Platelets; 2017 Dec; 28(8):832-836. PubMed ID: 28961024
[No Abstract] [Full Text] [Related]
45. Bernard-Soulier syndrome.
López JA; Andrews RK; Afshar-Kharghan V; Berndt MC
Blood; 1998 Jun; 91(12):4397-418. PubMed ID: 9616133
[No Abstract] [Full Text] [Related]
46. Inherited Platelet Disorders: An Updated Overview.
Palma-Barqueros V; Revilla N; Sánchez A; Zamora Cánovas A; Rodriguez-Alén A; Marín-Quílez A; González-Porras JR; Vicente V; Lozano ML; Bastida JM; Rivera J
Int J Mol Sci; 2021 Apr; 22(9):. PubMed ID: 33926054
[TBL] [Abstract][Full Text] [Related]
47. A novel mutation in GP1BA gene in a family with autosomal dominant Bernard Soulier syndrome variant: A case report.
Ma J; Chen Z; Li G; Gu H; Wu R
Exp Ther Med; 2021 Apr; 21(4):360. PubMed ID: 33732333
[TBL] [Abstract][Full Text] [Related]
48. Inherited thrombocytopenias: an updated guide for clinicians.
Pecci A; Balduini CL
Blood Rev; 2021 Jul; 48():100784. PubMed ID: 33317862
[TBL] [Abstract][Full Text] [Related]
49. A Comprehensive Review of Congenital Platelet Disorders, Thrombocytopenias and Thrombocytopathies.
Mohan G; Malayala SV; Mehta P; Balla M
Cureus; 2020 Oct; 12(10):e11275. PubMed ID: 33274150
[TBL] [Abstract][Full Text] [Related]
50. Whole exome sequencing for diagnosis of hereditary thrombocytopenia.
Mekchay P; Ittiwut C; Ittiwut R; Akkawat B; Le Grand SM; Leela-Adisorn N; Muanpetch S; Khovidhunkit W; Sosothikul D; Shotelersuk V; Suphapeetiporn K; Rojnuckarin P
Medicine (Baltimore); 2020 Nov; 99(47):e23275. PubMed ID: 33217855
[TBL] [Abstract][Full Text] [Related]
51. A Case of Bernard-Soulier Syndrome due to a Novel Homozygous Missense Mutation in an Exon of the GP1BA Gene.
Li X; Wang S; Wu J; Wang H; Wang J; Dong X; Zhang N
Acta Haematol; 2020; 143(1):60-64. PubMed ID: 31302646
[TBL] [Abstract][Full Text] [Related]
52. Mechanisms of thrombocytopenia in platelet-type von Willebrand disease.
Bury L; Malara A; Momi S; Petito E; Balduini A; Gresele P
Haematologica; 2019 Jul; 104(7):1473-1481. PubMed ID: 30655369
[TBL] [Abstract][Full Text] [Related]
53. Normal platelet function.
Holinstat M
Cancer Metastasis Rev; 2017 Jun; 36(2):195-198. PubMed ID: 28667366
[TBL] [Abstract][Full Text] [Related]
54. A Novel Mutation in
Barozzi S; Bozzi V; De Rocco D; Giangregorio T; Noris P; Savoia A; Pecci A
Int J Mol Sci; 2021 Sep; 22(19):. PubMed ID: 34638529
[TBL] [Abstract][Full Text] [Related]
55. Molecular pathology of rare bleeding disorders (RBDs) in India: a systematic review.
Kulkarni BP; Nair SB; Vijapurkar M; Mota L; Shanbhag S; Ali S; Shetty SD; Ghosh K
PLoS One; 2014; 9(9):e108683. PubMed ID: 25275492
[TBL] [Abstract][Full Text] [Related]
56. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
Richards S; Aziz N; Bale S; Bick D; Das S; Gastier-Foster J; Grody WW; Hegde M; Lyon E; Spector E; Voelkerding K; Rehm HL;
Genet Med; 2015 May; 17(5):405-24. PubMed ID: 25741868
[TBL] [Abstract][Full Text] [Related]
57. Flow cytometric analysis of platelet surface glycoproteins in the diagnosis of Bernard-Soulier syndrome.
Cohn RJ; Sherman GG; Glencross DK
Pediatr Hematol Oncol; 1997; 14(1):43-50. PubMed ID: 9021812
[TBL] [Abstract][Full Text] [Related]
58. Identification of a mutation in a GATA binding site of the platelet glycoprotein Ibbeta promoter resulting in the Bernard-Soulier syndrome.
Ludlow LB; Schick BP; Budarf ML; Driscoll DA; Zackai EH; Cohen A; Konkle BA
J Biol Chem; 1996 Sep; 271(36):22076-80. PubMed ID: 8703016
[TBL] [Abstract][Full Text] [Related]
59. Double heterozygosity for mutations in the platelet glycoprotein IX gene in three siblings with Bernard-Soulier syndrome.
Wright SD; Michaelides K; Johnson DJ; West NC; Tuddenham EG
Blood; 1993 May; 81(9):2339-47. PubMed ID: 8481514
[TBL] [Abstract][Full Text] [Related]
60. Bernard-Soulier syndrome caused by a novel GP1BB variant and 22q11.2 deletion.
Nagoshi R; Sakamoto A; Imai T; Uchiyama T; Kaname T; Kunishima S; Ishiguro A
Int J Hematol; 2024 Apr; ():. PubMed ID: 38625506
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
