Detalhe da pesquisa
1.
IRF2BPL Is Associated with Neurological Phenotypes.
Am J Hum Genet
; 103(2): 245-260, 2018 08 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30057031
2.
Epigenetics in T-cell acute lymphoblastic leukemia.
Immunol Rev
; 263(1): 50-67, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25510271
3.
Thorough in silico and in vitro cDNA analysis of 21 putative BRCA1 and BRCA2 splice variants and a complex tandem duplication in BRCA2 allowing the identification of activated cryptic splice donor sites in BRCA2 exon 11.
Hum Mutat
; 39(4): 515-526, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29280214
4.
Screening for Fabry Disease in Male Patients With Arrhythmia Requiring a Pacemaker or an Implantable Cardioverter-Defibrillator.
Circulation
; 143(8): 872-874, 2021 02 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-33617311
5.
Breast-cancer risk in families with mutations in PALB2.
N Engl J Med
; 371(6): 497-506, 2014 Aug 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-25099575
6.
The H3K27me3 demethylase UTX is a gender-specific tumor suppressor in T-cell acute lymphoblastic leukemia.
Blood
; 125(1): 13-21, 2015 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25320243
7.
Increased chromosomal radiosensitivity in asymptomatic carriers of a heterozygous BRCA1 mutation.
Breast Cancer Res
; 18(1): 52, 2016 05 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-27184744
8.
IRF2BPL Is Associated with Neurological Phenotypes.
Am J Hum Genet
; 103(3): 456, 2018 09 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30193138
9.
ABT-199 mediated inhibition of BCL-2 as a novel therapeutic strategy in T-cell acute lymphoblastic leukemia.
Blood
; 124(25): 3738-47, 2014 Dec 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-25301704
10.
MicroRNA-128-3p is a novel oncomiR targeting PHF6 in T-cell acute lymphoblastic leukemia.
Haematologica
; 99(8): 1326-33, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24895337
11.
The Notch driven long non-coding RNA repertoire in T-cell acute lymphoblastic leukemia.
Haematologica
; 99(12): 1808-16, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25344525
12.
Analysis of the novel fanconi anemia gene SLX4/FANCP in familial breast cancer cases.
Hum Mutat
; 34(1): 70-3, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22911665
13.
Fabry nephropathy: indications for screening and guidance for diagnosis and treatment by the European Renal Best Practice.
Nephrol Dial Transplant
; 28(3): 505-17, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23234755
14.
Germline heterozygous SH2B3-mutations and (idiopathic) erythrocytosis: Detection of a previously undescribed mutation.
EJHaem
; 4(4): 1143-1147, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-38024597
15.
Exome Sequencing and Multigene Panel Testing in 1,411 Patients With Adult-Onset Neurologic Disorders.
Neurol Genet
; 9(3): e200071, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37152446
16.
Loss of phospholipase PLAAT3 causes a mixed lipodystrophic and neurological syndrome due to impaired PPARγ signaling.
Nat Genet
; 55(11): 1929-1940, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37919452
17.
Prevalence of BRCA1/2 mutations in sporadic breast/ovarian cancer patients and identification of a novel de novo BRCA1 mutation in a patient diagnosed with late onset breast and ovarian cancer: implications for genetic testing.
Breast Cancer Res Treat
; 132(1): 87-95, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-21553119
18.
Wide diversity of PAX5 alterations in B-ALL: a Groupe Francophone de Cytogenetique Hematologique study.
Blood
; 115(15): 3089-97, 2010 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-20160164
19.
High-risk clonal evolution in chronic B-lymphocytic leukemia: single-center interphase fluorescence in situ hybridization study and review of the literature.
Eur J Haematol
; 89(1): 72-80, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22509718
20.
Novel FH mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinoma.
J Med Genet
; 48(4): 226-34, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21398687