Detalhe da pesquisa
1.
Identification of Variants in RET and IHH Pathway Members in a Large Family With History of Hirschsprung Disease.
Gastroenterology
; 155(1): 118-129.e6, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29601828
2.
A functional assay-based procedure to classify mismatch repair gene variants in Lynch syndrome.
Genet Med
; 21(7): 1486-1496, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30504929
3.
MicroRNA High Throughput Loss-of-Function Screening Reveals an Oncogenic Role for miR-21-5p in Hodgkin Lymphoma.
Cell Physiol Biochem
; 49(1): 144-159, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30184526
4.
New target genes in endometrial tumors show a role for the estrogen-receptor pathway in microsatellite-unstable cancers.
Hum Mutat
; 35(12): 1514-23, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25231886
5.
KBP interacts with SCG10, linking Goldberg-Shprintzen syndrome to microtubule dynamics and neuronal differentiation.
Hum Mol Genet
; 19(18): 3642-51, 2010 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-20621975
6.
Variants in RET associated with Hirschsprung's disease affect binding of transcription factors and gene expression.
Gastroenterology
; 140(2): 572-582.e2, 2011 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-20977903
7.
RET-familial medullary thyroid carcinoma mutants Y791F and S891A activate a Src/JAK/STAT3 pathway, independent of glial cell line-derived neurotrophic factor.
Cancer Res
; 65(5): 1729-37, 2005 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-15753368
8.
Functional Studies on Primary Tubular Epithelial Cells Indicate a Tumor Suppressor Role of SETD2 in Clear Cell Renal Cell Carcinoma.
Neoplasia
; 18(6): 339-46, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27292023
9.
Localizing a putative mutation as the major contributor to the development of sporadic Hirschsprung disease to the RET genomic sequence between the promoter region and exon 2.
Eur J Hum Genet
; 12(8): 604-12, 2004 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-15138456
10.
ABCD syndrome is caused by a homozygous mutation in the EDNRB gene.
Am J Med Genet
; 108(3): 223-5, 2002 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-11891690
11.
Relation between genotype and left-ventricular dilatation in patients with Marfan syndrome.
Gene
; 534(1): 40-3, 2014 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24161884
12.
The effects of four different tyrosine kinase inhibitors on medullary and papillary thyroid cancer cells.
J Clin Endocrinol Metab
; 96(6): E991-5, 2011 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-21470995
13.
Histone methyltransferase gene SETD2 is a novel tumor suppressor gene in clear cell renal cell carcinoma.
Cancer Res
; 70(11): 4287-91, 2010 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-20501857
14.
Mutations in SCG10 are not involved in Hirschsprung disease.
PLoS One
; 5(12): e15144, 2010 Dec 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-21187955
15.
Severe myocardial fibrosis caused by a deletion of the 5' end of the lamin A/C gene.
J Am Coll Cardiol
; 49(25): 2430-9, 2007 Jun 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-17599607
16.
MUTYH and the mismatch repair system: partners in crime?
Hum Genet
; 119(1-2): 206-11, 2006 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-16408224
17.
Identifying candidate Hirschsprung disease-associated RET variants.
Am J Hum Genet
; 76(5): 850-8, 2005 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-15759212
18.
Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems.
Am J Hum Genet
; 77(1): 120-6, 2005 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-15883926
19.
A rare haplotype of the RET proto-oncogene is a risk-modifying allele in hirschsprung disease.
Am J Hum Genet
; 71(4): 969-74, 2002 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-12214285