Detalhe da pesquisa
1.
Putative founder effect of Arg338* AP4M1 (SPG50) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three families.
Clin Genet
; 103(3): 346-351, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36371792
2.
uORF-introducing variants in the 5'UTR of the NIPBL gene as a cause of Cornelia de Lange syndrome.
Hum Mutat
; 43(9): 1239-1248, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35446447
3.
First report of a short in-frame biallelic deletion removing part of the EGF-like domain calcium-binding motif in LTBP4 and causing autosomal recessive cutis laxa type 1C.
Am J Med Genet A
; 188(11): 3343-3349, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35972031
4.
Diversity of genetic events associated with MLH1 promoter methylation in Lynch syndrome families with heritable constitutional epimutation.
Genet Med
; 20(12): 1589-1599, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29790873
5.
BRCA Share: A Collection of Clinical BRCA Gene Variants.
Hum Mutat
; 37(12): 1318-1328, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27633797
6.
Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia/spinocerebellar ataxia 27B.
Sci Rep
; 13(1): 9737, 2023 06 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37322040
7.
Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants.
Hum Mutat
; 33(8): 1228-38, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22505045
8.
Transmission of germline TP53 mutations from male carriers to female partners.
J Med Genet
; 52(3): 145-6, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25612911
9.
Skipping Nonsense to Maintain Function: The Paradigm of BRCA2 Exon 12.
Cancer Res
; 80(7): 1374-1386, 2020 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32046981
10.
Molecular characterization of a monosomy 1p36 presenting as an Aicardi syndrome phenocopy.
Am J Med Genet A
; 149A(11): 2493-500, 2009 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-19842196
11.
Full in-frame exon 3 skipping of BRCA2 confers high risk of breast and/or ovarian cancer.
Oncotarget
; 9(25): 17334-17348, 2018 Apr 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29707112
12.
RUNX1T1, a chromatin repression protein, is a candidate gene for autosomal dominant intellectual disability.
Am J Med Genet A
; 158A(7): 1782-4, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22644616
13.
Next-generation sequencing: a decisive diagnostic aid for atypical Wilson's disease.
J Neurol
; 269(12): 6664-6666, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35864215
14.
Clinical relevance of 8q23, 15q13 and 18q21 SNP genotyping to evaluate colorectal cancer risk.
Eur J Hum Genet
; 24(1): 99-105, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25873010
15.
Kinase-independent transcriptional co-activation of peroxisome proliferator-activated receptor alpha by AMP-activated protein kinase.
Biochem J
; 384(Pt 2): 295-305, 2004 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-15312046
16.
Development of primary early-onset colorectal cancers due to biallelic mutations of the FANCD1/BRCA2 gene.
Eur J Hum Genet
; 22(8): 979-87, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24301060
17.
Is the controversy on breast cancer as part of the Lynch-related tumor spectrum still open?
Fam Cancer
; 11(4): 681-3, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22890886