Detalhe da pesquisa
1.
Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder.
Mol Psychiatry
; 24(11): 1748-1768, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29728705
2.
Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita.
Hum Mutat
; 40(12): 2270-2285, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31206972
3.
Neurophysiology versus clinical genetics in Rett syndrome: A multicenter study.
Am J Med Genet A
; 170(9): 2301-9, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27354166
4.
Common genetic variants and modification of penetrance of BRCA2-associated breast cancer.
PLoS Genet
; 6(10): e1001183, 2010 Oct 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-21060860
5.
Genotype-phenotype relationships as prognosticators in Rett syndrome should be handled with care in clinical practice.
Am J Med Genet A
; 158A(2): 340-50, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22190343
6.
Characterisation of unclassified variants in the BRCA1/2 genes with a putative effect on splicing.
Breast Cancer Res Treat
; 129(3): 971-82, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-21638052
7.
Further characterization of the first seminoma cell line TCam-2.
Genes Chromosomes Cancer
; 47(3): 185-96, 2008 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-18050305
8.
MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression.
Eur J Hum Genet
; 16(9): 1029-37, 2008 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-18398436
9.
The association between cancer family history and ovarian cancer risk in BRCA1/2 mutation carriers: can it be explained by the mutation position?
Eur J Hum Genet
; 26(6): 848-857, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29483665
10.
BRCA1 c.4987-3C>G is a pathogenic mutation.
Breast Cancer Res Treat
; 131(2): 723-5, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22113256
11.
MECP2 mutations are an infrequent cause of mental retardation associated with neurological problems in male patients.
Brain Dev
; 28(5): 305-10, 2006 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-16376510
12.
POU5F1 (OCT3/4) identifies cells with pluripotent potential in human germ cell tumors.
Cancer Res
; 63(9): 2244-50, 2003 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-12727846
13.
Truncating de novo mutations in the Krüppel-type zinc-finger gene ZNF148 in patients with corpus callosum defects, developmental delay, short stature, and dysmorphisms.
Genome Med
; 8(1): 131, 2016 12 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-27964749
14.
Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2).
Eur J Paediatr Neurol
; 7(1): 5-12, 2003.
Artigo
em Inglês
| MEDLINE | ID: mdl-12615169
15.
Psychiatric illness in a cohort of adults with Prader-Willi syndrome.
Res Dev Disabil
; 32(5): 1729-35, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21454045
16.
Different distribution of the genetic subtypes of the Prader-Willi syndrome in the elderly.
Eur J Hum Genet
; 18(9): 993-8, 2010 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-20461108
17.
Expression of the PDGF alpha-receptor 1.5 kb transcript, OCT-4, and c-KIT in human normal and malignant tissues. Implications for the early diagnosis of testicular germ cell tumours and for our understanding of regulatory mechanisms.
J Pathol
; 196(4): 467-77, 2002 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-11920744