Detalhe da pesquisa
1.
Differential alternative splicing analysis links variation in ZRSR2 to a novel type of oral-facial-digital syndrome.
Genet Med
; 26(4): 101059, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38158857
2.
Challenges in molecular diagnosis of X-linked Intellectual disability.
Br Med Bull
; 133(1): 36-48, 2020 05 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-32043524
3.
Duplication of the MYB oncogene in T cell acute lymphoblastic leukemia.
Nat Genet
; 39(5): 593-5, 2007 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-17435759
4.
Two cases of non-alcoholic fatty liver disease caused by biallelic ABHD5 mutations.
J Hepatol
; 72(5): 1030-1032, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32107051
5.
De novo MECP2 duplications in two females with intellectual disability and unfavorable complete skewed X-inactivation.
Hum Genet
; 133(11): 1359-67, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25037250
6.
Evidence for increased SOX3 dosage as a risk factor for X-linked hypopituitarism and neural tube defects.
Am J Med Genet A
; 164A(8): 1947-52, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24737742
7.
The mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for non-syndromic intellectual disability.
Hum Genet
; 132(10): 1177-85, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23783460
8.
Promoting role of cholecystokinin 2 receptor (CCK2R) in gastrointestinal stromal tumour pathogenesis.
J Pathol
; 228(4): 565-74, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22786615
9.
Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1.
Am J Med Genet A
; 158A(3): 574-80, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22318985
10.
Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation.
Am J Hum Genet
; 82(2): 432-43, 2008 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-18252223
11.
Genotype-phenotype correlations of UBA2 mutations in patients with ectrodactyly.
Eur J Med Genet
; 63(11): 104009, 2020 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-32758660
12.
Next-generation sequencing in prenatal setting: Some examples of unexpected variant association.
Eur J Med Genet
; 63(5): 103875, 2020 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-32058062
13.
A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency.
Eur J Hum Genet
; 26(1): 54-63, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29209020
14.
Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: important role for increased gene dosage of XLMR genes.
Hum Mutat
; 28(10): 1034-42, 2007 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-17546640
15.
ZIC1 gene expression is controlled by DNA and histone methylation in mesenchymal proliferations.
FEBS Lett
; 581(26): 5122-6, 2007 Oct 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-17936758
16.
X chromosome array-CGH for the identification of novel X-linked mental retardation genes.
Eur J Med Genet
; 48(3): 263-75, 2005.
Artigo
em Inglês
| MEDLINE | ID: mdl-16179222
17.
Microdeletion of the escape genes KDM5C and IQSEC2 in a girl with severe intellectual disability and autistic features.
Eur J Med Genet
; 58(5): 324-7, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25858702
18.
Ubiquitin ligase HUWE1 regulates axon branching through the Wnt/ß-catenin pathway in a Drosophila model for intellectual disability.
PLoS One
; 8(11): e81791, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-24303071
19.
BMPR1A is a candidate gene for congenital heart defects associated with the recurrent 10q22q23 deletion syndrome.
Eur J Med Genet
; 55(1): 12-6, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22067610
20.
Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair.
Genome Res
; 18(6): 847-58, 2008 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-18385275