Detalhe da pesquisa
1.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-34638529
2.
Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia.
Haematologica
; 103(3): 417-426, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29269525
3.
Clinical and pathogenic features of ETV6-related thrombocytopenia with predisposition to acute lymphoblastic leukemia.
Haematologica
; 101(11): 1333-1342, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27365488
4.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-27013026
5.
Unusual splice site mutations disrupt FANCA exon 8 definition.
Biochim Biophys Acta
; 1842(7): 1052-8, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24704046
6.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-24326104
7.
Impaired immune response to Candida albicans in cells from Fanconi anemia patients.
Cytokine
; 73(1): 203-7, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25769809
8.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-26033879
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-24186861
10.
Spectrum of the mutations in Bernard-Soulier syndrome.
Hum Mutat
; 35(9): 1033-45, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24934643
11.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-21211618
12.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-24584348
13.
Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia.
Haematologica
; 99(8): 1387-94, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24763399
14.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-28466964
15.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-21467542
16.
Correlation between platelet phenotype and NBEAL2 genotype in patients with congenital thrombocytopenia and α-granule deficiency.
Haematologica
; 98(6): 868-74, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23100277
17.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-21933849
18.
Mutations of RUNX1 in families with inherited thrombocytopenia.
Am J Hematol
; 92(6): E86-E88, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28240786
19.
MYH9 gene mutations associated with bleeding.
Platelets
; 28(3): 312-315, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28368695
20.
Clinical and genetic aspects of Bernard-Soulier syndrome: searching for genotype/phenotype correlations.
Haematologica
; 96(3): 417-23, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21173099