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1.
Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup.
Haematologica
; 108(7): 1909-1919, 2023 Jul 01.
Article
in English
| MEDLINE | ID: mdl-36519321
2.
Dysregulation of oncogenic factors by GFI1B p32: investigation of a novel GFI1B germline mutation.
Haematologica
; 107(1): 260-267, 2022 01 01.
Article
in English
| MEDLINE | ID: mdl-33472357
3.
Loss-of-function mutations in PTPRJ cause a new form of inherited thrombocytopenia.
Blood
; 133(12): 1346-1357, 2019 03 21.
Article
in English
| MEDLINE | ID: mdl-30591527
4.
A Novel Mutation in GP1BB Reveals the Role of the Cytoplasmic Domain of GPIbß in the Pathophysiology of Bernard-Soulier Syndrome and GPIb-IX Complex Assembly.
Int J Mol Sci
; 22(19)2021 Sep 22.
Article
in English
| MEDLINE | ID: mdl-34638529
5.
GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme.
Haematologica
; 107(3): 750-754, 2022 03 01.
Article
in English
| MEDLINE | ID: mdl-34788986
6.
Platelet diameters in inherited thrombocytopenias: analysis of 376 patients with all known disorders.
Blood
; 124(6): e4-e10, 2014 Aug 07.
Article
in English
| MEDLINE | ID: mdl-24990887
7.
Pathogenetic and clinical study of a patient with thrombocytopenia due to the p.E527K gain-of-function variant of SRC.
Haematologica
; 106(3): 918-922, 2021 03 01.
Article
in English
| MEDLINE | ID: mdl-33054137
8.
Clinical and pathogenic features of ETV6-related thrombocytopenia with predisposition to acute lymphoblastic leukemia.
Haematologica
; 101(11): 1333-1342, 2016 11.
Article
in English
| MEDLINE | ID: mdl-27365488
9.
MYH9-related disease: a novel prognostic model to predict the clinical evolution of the disease based on genotype-phenotype correlations.
Hum Mutat
; 35(2): 236-47, 2014 Feb.
Article
in English
| MEDLINE | ID: mdl-24186861
10.
Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2.
Am J Hum Genet
; 88(1): 115-20, 2011 Jan 07.
Article
in English
| MEDLINE | ID: mdl-21211618
11.
Eltrombopag in preparation for surgery in patients with severe MYH9-related thrombocytopenia.
Am J Hematol
; 94(8): E199-E201, 2019 08.
Article
in English
| MEDLINE | ID: mdl-31034630
12.
Lack of COL6/collagen VI causes megakaryocyte dysfunction by impairing autophagy and inducing apoptosis.
Autophagy
; 19(3): 984-999, 2023 03.
Article
in English
| MEDLINE | ID: mdl-35857791
13.
Eltrombopag for the treatment of the inherited thrombocytopenia deriving from MYH9 mutations.
Blood
; 116(26): 5832-7, 2010 Dec 23.
Article
in English
| MEDLINE | ID: mdl-20844233
14.
Clinical and genetic aspects of Bernard-Soulier syndrome: searching for genotype/phenotype correlations.
Haematologica
; 96(3): 417-23, 2011 Mar.
Article
in English
| MEDLINE | ID: mdl-21173099
15.
MYH9 related disease: four novel mutations of the tail domain of myosin-9 correlating with a mild clinical phenotype.
Eur J Haematol
; 84(4): 291-7, 2010 Apr.
Article
in English
| MEDLINE | ID: mdl-20002731
16.
Megakaryocytes of patients with MYH9-related thrombocytopenia present an altered proplatelet formation.
Thromb Haemost
; 102(1): 90-6, 2009 Jul.
Article
in English
| MEDLINE | ID: mdl-19572073
17.
MYH9 related disease: a novel missense Ala95Asp mutation of the MYH9 gene.
Platelets
; 20(8): 598-602, 2009 Dec.
Article
in English
| MEDLINE | ID: mdl-19860543
18.
MYH9-Related Thrombocytopenia: Four Novel Variants Affecting the Tail Domain of the Non-Muscle Myosin Heavy Chain IIA Associated with a Mild Clinical Evolution of the Disorder.
Hamostaseologie
; 39(1): 87-94, 2019 Feb.
Article
in English
| MEDLINE | ID: mdl-29996171
19.
Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease.
Hum Mutat
; 29(3): 409-17, 2008 Mar.
Article
in English
| MEDLINE | ID: mdl-18059020
20.
Thrombopoietin mutation in congenital amegakaryocytic thrombocytopenia treatable with romiplostim.
EMBO Mol Med
; 10(1): 63-75, 2018 01.
Article
in English
| MEDLINE | ID: mdl-29191945