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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.
Article
in English
| 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.
Article
in English
| MEDLINE | ID: mdl-36852936
3.
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.
Article
in English
| MEDLINE | ID: mdl-34358225
4.
Multi-disciplinary Insights from the First European Forum on Visceral Myopathy 2022 Meeting.
Dig Dis Sci
; 68(10): 3857-3871, 2023 10.
Article
in English
| MEDLINE | ID: mdl-37650948
5.
The Somatic Mutation Paradigm in Congenital Malformations: Hirschsprung Disease as a Model.
Int J Mol Sci
; 22(22)2021 Nov 16.
Article
in English
| MEDLINE | ID: mdl-34830235
6.
Goldberg-Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBP.
Hum Mutat
; 41(11): 1906-1917, 2020 11.
Article
in English
| MEDLINE | ID: mdl-32939943
7.
Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.
Am J Hum Genet
; 101(1): 123-129, 2017 Jul 06.
Article
in English
| MEDLINE | ID: mdl-28602422
8.
Intestinal Motility May Not Be Completely Dependent on Epithelial Ret Signaling in the Adult Intestine.
Gastroenterology
; 2024 Apr 07.
Article
in English
| MEDLINE | ID: mdl-38593923
9.
Neuronal Development and Onset of Electrical Activity in the Human Enteric Nervous System.
Gastroenterology
; 156(5): 1483-1495.e6, 2019 Apr.
Article
in English
| MEDLINE | ID: mdl-30610864
10.
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.
Article
in English
| MEDLINE | ID: mdl-28292896
11.
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.
Article
in English
| MEDLINE | ID: mdl-29601828
12.
ACTG2 variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.
Hum Mol Genet
; 25(3): 571-83, 2016 Feb 01.
Article
in English
| MEDLINE | ID: mdl-26647307
13.
Genetics of enteric neuropathies.
Dev Biol
; 417(2): 198-208, 2016 09 15.
Article
in English
| MEDLINE | ID: mdl-27426273
14.
Congenital Short Bowel Syndrome: from clinical and genetic diagnosis to the molecular mechanisms involved in intestinal elongation.
Biochim Biophys Acta
; 1852(11): 2352-61, 2015 Nov.
Article
in English
| MEDLINE | ID: mdl-26282049
15.
Contribution of rare and common variants determine complex diseases-Hirschsprung disease as a model.
Dev Biol
; 382(1): 320-9, 2013 Oct 01.
Article
in English
| MEDLINE | ID: mdl-23707863
16.
Do RET somatic mutations play a role in Hirschsprung disease?
Genet Med
; 20(11): 1477-1478, 2018 11.
Article
in English
| MEDLINE | ID: mdl-29493586
17.
Promoter hypermethylation of neural-related genes is compatible with stemness in solid cancers.
Epigenetics Chromatin
; 16(1): 31, 2023 08 03.
Article
in English
| MEDLINE | ID: mdl-37537688
18.
Evaluating the molecular and genetic mechanisms underlying gut motility disorders.
Expert Rev Gastroenterol Hepatol
; 17(12): 1301-1312, 2023 Dec.
Article
in English
| MEDLINE | ID: mdl-38117595
19.
Gut Isolation from Zebrafish Larvae for Single-cell RNA Sequencing.
J Vis Exp
; (201)2023 Nov 10.
Article
in English
| MEDLINE | ID: mdl-38009742
20.
Unbiased characterization of the larval zebrafish enteric nervous system at a single cell transcriptomic level.
iScience
; 26(7): 107070, 2023 Jul 21.
Article
in English
| MEDLINE | ID: mdl-37426341