Detalhe da pesquisa
1.
Whole exome sequencing of known eye genes reveals genetic causes for high myopia.
Hum Mol Genet;
31(19): 3290-3298, 2022 09 29.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35567543
2.
Size matters: Large copy number losses in Hirschsprung disease patients reveal genes involved in enteric nervous system development.
PLoS Genet;
17(8): e1009698, 2021 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34358225
3.
A complementary study approach unravels novel players in the pathoetiology of Hirschsprung disease.
PLoS Genet;
16(11): e1009106, 2020 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33151932
4.
Uveal Melanoma Patients Have a Distinct Metabolic Phenotype in Peripheral Blood.
Int J Mol Sci;
24(6)2023 Mar 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36982149
5.
Molecular Genetics of Conjunctival Melanoma and Prognostic Value of TERT Promoter Mutation Analysis.
Int J Mol Sci;
22(11)2021 May 28.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34071371
6.
The Somatic Mutation Paradigm in Congenital Malformations: Hirschsprung Disease as a Model.
Int J Mol Sci;
22(22)2021 Nov 16.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34830235
7.
Multi-Omics Profiling in Marfan Syndrome: Further Insights into the Molecular Mechanisms Involved in Aortic Disease.
Int J Mol Sci;
23(1)2021 Dec 31.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35008861
8.
Goldberg-Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBP.
Hum Mutat;
41(11): 1906-1917, 2020 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32939943
9.
Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.
Am J Hum Genet;
101(1): 123-129, 2017 Jul 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28602422
10.
Neuronal Development and Onset of Electrical Activity in the Human Enteric Nervous System.
Gastroenterology;
156(5): 1483-1495.e6, 2019 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30610864
11.
Cervical ribs and other abnormalities of the vertebral pattern in children with esophageal atresia and anorectal malformations.
Pediatr Res;
87(4): 773-778, 2020 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31645054
12.
Loss of LMOD1 impairs smooth muscle cytocontractility and causes megacystis microcolon intestinal hypoperistalsis syndrome in humans and mice.
Proc Natl Acad Sci U S A;
114(13): E2739-E2747, 2017 03 28.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28292896
13.
Spliceosome Mutations in Uveal Melanoma.
Int J Mol Sci;
21(24)2020 Dec 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33333932
14.
Genetics of Ocular Melanoma: Insights into Genetics, Inheritance and Testing.
Int J Mol Sci;
22(1)2020 Dec 30.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33396957
15.
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
16.
A combined literature and in silico analysis enlightens the role of the NDRG family in the gut.
Biochim Biophys Acta Gen Subj;
1862(10): 2140-2151, 2018 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30033230
17.
Genetics of enteric neuropathies.
Dev Biol;
417(2): 198-208, 2016 09 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27426273
18.
Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder.
Genome Res;
23(1): 23-33, 2013 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23034409
19.
More than fetal urine: enteral uptake of amniotic fluid as a major predictor for fetal growth during late gestation.
Eur J Pediatr;
175(6): 825-31, 2016 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26979529
20.
Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association.
Kidney Int;
85(6): 1310-7, 2014 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24152966