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Items: 1 to 20 of 117

1.

Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome.

Wangler MF, Gonzaga-Jauregui C, Gambin T, Penney S, Moss T, Chopra A, Probst FJ, Xia F, Yang Y, Werlin S, Eglite I, Kornejeva L, Bacino CA, Baldridge D, Neul J, Lehman EL, Larson A, Beuten J, Muzny DM, Jhangiani S; Baylor-Hopkins Center for Mendelian Genomics, Gibbs RA, Lupski JR, Beaudet A.

PLoS Genet. 2014 Mar 27;10(3):e1004258. doi: 10.1371/journal.pgen.1004258. eCollection 2014 Mar.

2.

De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis.

Thorson W, Diaz-Horta O, Foster J 2nd, Spiliopoulos M, Quintero R, Farooq A, Blanton S, Tekin M.

Hum Genet. 2014 Jun;133(6):737-42. doi: 10.1007/s00439-013-1406-0. Epub 2013 Dec 13.

PMID:
24337657
3.

A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome.

Gauthier J, Ouled Amar Bencheikh B, Hamdan FF, Harrison SM, Baker LA, Couture F, Thiffault I, Ouazzani R, Samuels ME, Mitchell GA, Rouleau GA, Michaud JL, Soucy JF.

Eur J Hum Genet. 2015 Sep;23(9):1266-8. doi: 10.1038/ejhg.2014.256. Epub 2014 Nov 19.

4.

Segregation of a missense variant in enteric smooth muscle actin γ-2 with autosomal dominant familial visceral myopathy.

Lehtonen HJ, Sipponen T, Tojkander S, Karikoski R, Järvinen H, Laing NG, Lappalainen P, Aaltonen LA, Tuupanen S.

Gastroenterology. 2012 Dec;143(6):1482-1491.e3. doi: 10.1053/j.gastro.2012.08.045. Epub 2012 Sep 6.

PMID:
22960657
5.

Congenital mydriasis associated with megacystis microcolon intestinal hypoperistalsis syndrome.

McClelland C, Walsh RD, Chikwava KR, Johnson MP, Mattei P, Liu GT.

J Neuroophthalmol. 2013 Sep;33(3):271-5. doi: 10.1097/WNO.0b013e31828b7d65.

PMID:
23636104
6.

Familial megacystis microcolon intestinal hypoperistalsis syndrome: a systematic review.

Mc Laughlin D, Puri P.

Pediatr Surg Int. 2013 Sep;29(9):947-51. doi: 10.1007/s00383-013-3357-x. Review.

PMID:
23955298
7.

Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS): report of a case with prolonged survival and literature review.

López-Muñoz E, Hernández-Zarco A, Polanco-Ortiz A, Villa-Morales J, Mateos-Sánchez L.

J Pediatr Urol. 2013 Feb;9(1):e12-8. doi: 10.1016/j.jpurol.2012.05.017. Epub 2012 Jun 30. Review.

PMID:
22749573
8.

New Insights into the Genetics of Fetal Megacystis: ACTG2 Mutations, Encoding γ-2 Smooth Muscle Actin in Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (Berdon Syndrome).

Tuzovic L, Tang S, Miller RS, Rohena L, Shahmirzadi L, Gonzalez K, Li X, LeDuc CA, Guo J, Wilson A, Mills A, Glassberg K, Rotterdam H, Sepulveda AR, Zeng W, Chung WK, Anyane-Yeboa K.

Fetal Diagn Ther. 2015;38(4):296-306. doi: 10.1159/000381638. Epub 2015 May 13.

PMID:
25998219
9.

Absent smooth muscle actin immunoreactivity of the small bowel muscularis propria circular layer in association with chromosome 15q11 deletion in megacystis-microcolon-intestinal hypoperistalsis syndrome.

Szigeti R, Chumpitazi BP, Finegold MJ, Ranganathan S, Craigen WJ, Carter BA, Tatevian N.

Pediatr Dev Pathol. 2010 Jul-Aug;13(4):322-5. doi: 10.2350/09-07-0678-CR.1.

PMID:
20028211
10.

Megacystis-microcolon-intestinal hypoperistalsis syndrome: evidence of intestinal myopathy.

Rolle U, O'Briain S, Pearl RH, Puri P.

Pediatr Surg Int. 2002 Jan;18(1):2-5.

PMID:
11793054
11.

Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) in siblings: case report and review of the literature.

Köhler M, Pease PW, Upadhyay V.

Eur J Pediatr Surg. 2004 Oct;14(5):362-7. Review.

PMID:
15543490
12.

ACTG2 variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.

Halim D, Hofstra RM, Signorile L, Verdijk RM, van der Werf CS, Sribudiani Y, Brouwer RW, van IJcken WF, Dahl N, Verheij JB, Baumann C, Kerner J, van Bever Y, Galjart N, Wijnen RM, Tibboel D, Burns AJ, Muller F, Brooks AS, Alves MM.

Hum Mol Genet. 2016 Feb 1;25(3):571-83. doi: 10.1093/hmg/ddv497. Epub 2015 Dec 8.

PMID:
26647307
13.

Megacystis microcolon intestinal hypoperistalsis syndrome: systematic review of outcome.

Gosemann JH, Puri P.

Pediatr Surg Int. 2011 Oct;27(10):1041-6. doi: 10.1007/s00383-011-2954-9. Review.

PMID:
21792650
15.

Isolated intestinal transplantation for megacystis microcolon intestinal hypoperistalsis syndrome: case report.

Huang CM, Tseng SH, Weng CC, Chen Y.

Pediatr Transplant. 2013 Feb;17(1):E4-8. doi: 10.1111/petr.12019. Epub 2012 Nov 20.

PMID:
23167913
16.

Megacystis microcolon intestinal hypoperistalsis syndrome.

Hiradfar M, Shojaeian R, Dehghanian P, Hajian S.

BMJ Case Rep. 2013 May 31;2013. pii: bcr2012007524. doi: 10.1136/bcr-2012-007524.

17.

Megacystis-microcolon-intestinal hypoperistalsis syndrome and the absence of the alpha3 nicotinic acetylcholine receptor subunit.

Richardson CE, Morgan JM, Jasani B, Green JT, Rhodes J, Williams GT, Lindstrom J, Wonnacott S, Thomas GA, Smith V.

Gastroenterology. 2001 Aug;121(2):350-7.

PMID:
11487544
18.

Familial visceral myopathy diagnosed by exome sequencing of a patient with chronic intestinal pseudo-obstruction.

Holla OL, Bock G, Busk OL, Isfoss BL.

Endoscopy. 2014 Jun;46(6):533-7. doi: 10.1055/s-0034-1365142. Epub 2014 Apr 28.

PMID:
24777424
19.
20.

Megacystis-microcolon-intestinal hypoperistalsis and prune belly: overlapping syndromes.

Levin TL, Soghier L, Blitman NM, Vega-Rich C, Nafday S.

Pediatr Radiol. 2004 Dec;34(12):995-8. Epub 2004 Jul 31.

PMID:
15289943
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