Detalhe da pesquisa
1.
Benefit of phlebotomy and low-dose aspirin in the prevention of vascular events in patients with EPOR primary familial polycythemia on the island of New Caledonia.
Haematologica
; 2024 Mar 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38546672
2.
Comprehensive in silico and functional studies for classification of EPAS1/HIF2A genetic variants identified in patients with erythrocytosis.
Haematologica
; 108(6): 1652-1666, 2023 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36700397
3.
Characterization of genetic variants in the EGLN1/PHD2 gene identified in a European collection of patients with erythrocytosis.
Haematologica
; 108(11): 3068-3085, 2023 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37317877
4.
Increased incidence of germline PIEZO1 mutations in individuals with idiopathic erythrocytosis.
Blood
; 137(13): 1828-1832, 2021 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33181827
5.
Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes.
J Med Genet
; 54(6): 371-380, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28289185
6.
Cohen syndrome is associated with major glycosylation defects.
Hum Mol Genet
; 23(9): 2391-9, 2014 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24334764
7.
Low incidence of EPOR mutations in idiopathic erythrocytosis.
Haematologica
; 106(1): 299-301, 2021 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32165487
8.
In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome.
Am J Hum Genet
; 91(5): 950-7, 2012 Nov 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-23103230
9.
Severe X-linked chondrodysplasia punctata in nine new female fetuses.
Prenat Diagn
; 35(7): 675-84, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25754886
10.
C5orf42 is the major gene responsible for OFD syndrome type VI.
Hum Genet
; 133(3): 367-77, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24178751
11.
High HFE mutation incidence in idiopathic erythrocytosis.
Br J Haematol
; 185(4): 794-795, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30407617
12.
Congenital neutropenia with retinopathy, a new phenotype without intellectual deficiency or obesity secondary to VPS13B mutations.
Am J Med Genet A
; 164A(2): 522-7, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24311531
13.
Phenotypic variation among seven members of one family with deficiency of hypoxanthine-guanine phosphoribosyltransferase.
Mol Genet Metab
; 110(3): 268-74, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24075303
14.
Germline JAK2 L611S mutation in a child with thrombocytosis.
Haematologica
; 103(8): e372-e373, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29567786
15.
Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disability.
J Med Genet
; 49(6): 400-8, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22693284
16.
Germline JAK2 E846D Substitution as the Cause of Erythrocytosis?
Genes (Basel)
; 14(5)2023 05 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37239426
17.
Stepwise use of genomics and transcriptomics technologies increases diagnostic yield in Mendelian disorders.
Front Cell Dev Biol
; 11: 1021920, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36926521
18.
Search for a gene responsible for Floating-Harbor syndrome on chromosome 12q15q21.1.
Am J Med Genet A
; 158A(2): 333-9, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22247066
19.
Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndrome.
J Med Genet
; 47(8): 549-53, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20656880
20.
Renal insufficiency, a frequent complication with age in oral-facial-digital syndrome type I.
Clin Genet
; 77(3): 258-65, 2010 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-19817772