Detalhe da pesquisa
1.
The long Filamin-A isoform is required for intestinal development and motility: implications for chronic intestinal pseudo-obstruction.
Hum Mol Genet
; 32(1): 151-160, 2023 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35981053
2.
A combinatorial panel for flow cytometry-based isolation of enteric nervous system cells from human intestine.
EMBO Rep
; 24(4): e55789, 2023 04 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36852936
3.
Identification of MOAG-4/SERF as a regulator of age-related proteotoxicity.
Cell
; 142(4): 601-12, 2010 Aug 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-20723760
4.
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
5.
Loss of enteric neuronal Ndrg4 promotes colorectal cancer via increased release of Nid1 and Fbln2.
EMBO Rep
; 22(6): e51913, 2021 06 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33890711
6.
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
7.
Universal Immunohistochemistry for Lynch Syndrome: A Systematic Review and Meta-analysis of 58,580 Colorectal Carcinomas.
Clin Gastroenterol Hepatol
; 20(3): e496-e507, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33887476
8.
Three-step site-directed mutagenesis screen identifies pathogenic MLH1 variants associated with Lynch syndrome.
J Med Genet
; 57(5): 308-315, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31784484
9.
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
10.
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
11.
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
12.
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
13.
Yield of Lynch Syndrome Surveillance for Patients With Pathogenic Variants in DNA Mismatch Repair Genes.
Clin Gastroenterol Hepatol
; 18(5): 1112-1120.e1, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31470178
14.
Suspected Lynch syndrome associated MSH6 variants: A functional assay to determine their pathogenicity.
PLoS Genet
; 13(5): e1006765, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28531214
15.
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
16.
Routine Molecular Analysis for Lynch Syndrome Among Adenomas or Colorectal Cancer Within a National Screening Program.
Gastroenterology
; 155(5): 1410-1415, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30063919
17.
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
18.
Oligonucleotide-directed mutagenesis screen to identify pathogenic Lynch syndrome-associated MSH2 DNA mismatch repair gene variants.
Proc Natl Acad Sci U S A
; 113(15): 4128-33, 2016 Apr 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-26951660
19.
ACTG2 variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.
Hum Mol Genet
; 25(3): 571-83, 2016 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26647307
20.
Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease.
Hum Mol Genet
; 25(23): 5265-5275, 2016 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27702942