Detalhe da pesquisa
1.
Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome.
Mol Psychiatry
; 26(6): 2013-2024, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32346159
2.
Identification of CUX1 as the recurrent chromosomal band 7q22 target gene in human uterine leiomyoma.
Genes Chromosomes Cancer
; 52(1): 11-23, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22965931
3.
Characterization of a novel transcript of the EHMT1 gene reveals important diagnostic implications for Kleefstra syndrome.
Hum Mutat
; 32(7): 853-9, 2011 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21538692
4.
Regulation of the MiTF/TFE bHLH-LZ transcription factors through restricted spatial expression and alternative splicing of functional domains.
Nucleic Acids Res
; 32(8): 2315-22, 2004.
Artigo
em Inglês
| MEDLINE | ID: mdl-15118077
5.
Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome.
Eur J Hum Genet
; 23(3): 317-24, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24939586
6.
Germ cell tumours in neonates and infants: a distinct subgroup?
APMIS
; 111(1): 152-60; discussion 160, 2003 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-12752256
7.
A novel case of infantile sacral teratoma and a constitutional t(12;15)(q13;q25) pat.
Cancer Genet Cytogenet
; 136(1): 17-22, 2002 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-12165446
8.
Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings.
Eur J Hum Genet
; 21(9): 936-42, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23321623
9.
Disruption of a novel gene, DIRC3, and expression of DIRC3-HSPBAP1 fusion transcripts in a case of familial renal cell cancer and t(2;3)(q35;q21).
Genes Chromosomes Cancer
; 38(2): 107-16, 2003 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-12939738
10.
Upregulation of the transcription factor TFEB in t(6;11)(p21;q13)-positive renal cell carcinomas due to promoter substitution.
Hum Mol Genet
; 12(14): 1661-9, 2003 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-12837690
11.
The cancer-related protein SSX2 interacts with the human homologue of a Ras-like GTPase interactor, RAB3IP, and a novel nuclear protein, SSX2IP.
Genes Chromosomes Cancer
; 34(3): 285-98, 2002 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-12007189