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1.
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
2.
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
3.
CLMP is required for intestinal development, and loss-of-function mutations cause congenital short-bowel syndrome.
Gastroenterology
; 142(3): 453-462.e3, 2012 Mar.
Article
in English
| MEDLINE | ID: mdl-22155368
4.
Congenital short bowel syndrome as the presenting symptom in male patients with FLNA mutations.
Genet Med
; 15(4): 310-3, 2013 Apr.
Article
in English
| MEDLINE | ID: mdl-23037936
5.
Genetic screening of Congenital Short Bowel Syndrome patients confirms CLMP as the major gene involved in the recessive form of this disorder.
Eur J Hum Genet
; 24(11): 1627-1629, 2016 11.
Article
in English
| MEDLINE | ID: mdl-27352967
6.
CLMP is essential for intestinal development, but does not play a key role in cellular processes involved in intestinal epithelial development.
PLoS One
; 8(2): e54649, 2013.
Article
in English
| MEDLINE | ID: mdl-23460781
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