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1.
ACTN1-related thrombocytopenia: Homozygosity for an ACTN1 variant results in a more severe phenotype.
Br J Haematol
; 204(6): 2453-2457, 2024 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-38594875
2.
Thrombocytopenia 4 (THC4): Six novel families with mutations of the cytochrome c gene.
Br J Haematol
; 2024 May 30.
Artículo
en Inglés
| MEDLINE | ID: mdl-38815995
3.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-36519321
4.
Loss-of-function mutations in PTPRJ cause a new form of inherited thrombocytopenia.
Blood
; 133(12): 1346-1357, 2019 03 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-30591527
5.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-34638529
6.
Eltrombopag for the treatment of inherited thrombocytopenias: a phase II clinical trial.
Haematologica
; 105(3): 820-828, 2020 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-31273088
7.
GP1BB c.179C > T is the most frequent cause of monoallelic Bernard-Soulier syndrome in the Italian population after the Bolzano variant: a report of two new families.
Ann Hematol
; 102(3): 677-679, 2023 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-36539614
8.
Platelet diameters in inherited thrombocytopenias: analysis of 376 patients with all known disorders.
Blood
; 124(6): e4-e10, 2014 Aug 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-24990887
9.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-33054137
10.
Clinical and pathogenic features of ETV6-related thrombocytopenia with predisposition to acute lymphoblastic leukemia.
Haematologica
; 101(11): 1333-1342, 2016 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-27365488
11.
Chaperone molecules concentrate together with the ubiquitin-proteasome system inside particulate cytoplasmic structures: possible role in metabolism of misfolded proteins.
Histochem Cell Biol
; 144(2): 179-84, 2015 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-25952156
12.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-21211618
13.
Eltrombopag in preparation for surgery in patients with severe MYH9-related thrombocytopenia.
Am J Hematol
; 94(8): E199-E201, 2019 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-31034630
14.
MYH9-related disorders: report on a patient of Greek origin presenting with macroscopic hematuria and presenile cataract, caused by an R1165C mutation.
J Pediatr Hematol Oncol
; 34(6): 412-5, 2012 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-22627578
15.
Miniaturized 3D bone marrow tissue model to assess response to Thrombopoietin-receptor agonists in patients.
Elife
; 102021 06 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-34059198
16.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-29996171
17.
Thrombopoietin mutation in congenital amegakaryocytic thrombocytopenia treatable with romiplostim.
EMBO Mol Med
; 10(1): 63-75, 2018 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-29191945
18.
Spontaneous splenic rupture due to extramedullary haematopoiesis in a patient with inherited thrombocytopenia.
Blood Transfus
; 19(3): 257-260, 2021 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-33263523
19.
Particulate cytoplasmic structures with high concentration of ubiquitin-proteasome accumulate in myeloid neoplasms.
J Hematol Oncol
; 8: 71, 2015 Jun 18.
Artículo
en Inglés
| MEDLINE | ID: mdl-26081257
20.
Ubiquitin/proteasome-rich particulate cytoplasmic structures (PaCSs) in the platelets and megakaryocytes of ANKRD26-related thrombo-cytopenia.
Thromb Haemost
; 109(2): 263-71, 2013 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-23223974