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1.
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
2.
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
3.
Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia.
Haematologica;
103(3): 417-426, 2018 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-29269525
4.
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
5.
Somatic, hematologic phenotype, long-term outcome, and effect of hematopoietic stem cell transplantation. An analysis of 97 Fanconi anemia patients from the Italian national database on behalf of the Marrow Failure Study Group of the AIEOP (Italian Association of Pediatric Hematology-Oncology).
Am J Hematol;
91(7): 666-71, 2016 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-27013026
6.
Unusual splice site mutations disrupt FANCA exon 8 definition.
Biochim Biophys Acta;
1842(7): 1052-8, 2014 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-24704046
7.
Mutations of cytochrome c identified in patients with thrombocytopenia THC4 affect both apoptosis and cellular bioenergetics.
Biochim Biophys Acta;
1842(2): 269-74, 2014 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-24326104
8.
Impaired immune response to Candida albicans in cells from Fanconi anemia patients.
Cytokine;
73(1): 203-7, 2015 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-25769809
9.
Clinical aspects of Fanconi anemia individuals with the same mutation of FANCF identified by next generation sequencing.
Birth Defects Res A Clin Mol Teratol;
103(12): 1003-10, 2015 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-26033879
10.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-24186861
11.
Spectrum of the mutations in Bernard-Soulier syndrome.
Hum Mutat;
35(9): 1033-45, 2014 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-24934643
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.
Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology.
Haematologica;
99(6): 1022-31, 2014 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-24584348
14.
Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia.
Haematologica;
99(8): 1387-94, 2014 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-24763399
15.
A new form of inherited thrombocytopenia due to monoallelic loss of function mutation in the thrombopoietin gene.
Br J Haematol;
181(5): 698-701, 2018 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-28466964
16.
Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families.
Blood;
117(24): 6673-80, 2011 Jun 16.
Artículo
en Inglés
| MEDLINE | ID: mdl-21467542
17.
Correlation between platelet phenotype and NBEAL2 genotype in patients with congenital thrombocytopenia and α-granule deficiency.
Haematologica;
98(6): 868-74, 2013 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-23100277
18.
Clinical and laboratory features of 103 patients from 42 Italian families with inherited thrombocytopenia derived from the monoallelic Ala156Val mutation of GPIbα (Bolzano mutation).
Haematologica;
97(1): 82-8, 2012 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-21933849
19.
Mutations of RUNX1 in families with inherited thrombocytopenia.
Am J Hematol;
92(6): E86-E88, 2017 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-28240786
20.
MYH9 gene mutations associated with bleeding.
Platelets;
28(3): 312-315, 2017 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-28368695