298 related articles for article (PubMed ID: 25407000)
1. 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. PubMed ID: 25407000
[TBL] [Abstract][Full Text] [Related]
2. 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; 25(3):571-83. PubMed ID: 26647307
[TBL] [Abstract][Full Text] [Related]
3. Fetal megacystis-microcolon: Genetic mutational spectrum and identification of PDCL3 as a novel candidate gene.
Billon C; Molin A; Poirsier C; Clemenson A; Dauge C; Grelet M; Sigaudy S; Patrier S; Goldenberg A; Layet V; Tantau J; Fleury C; Liard A; Diguet A; Fritih R; Verspyck E; Rendu J; Boutaud L; Tessier A; Thomas S; Razavi F; Achaiaa A; Elkhartoufi N; Hakkakian L; Magnin E; Bôle-Feysot C; Masson C; Ville Y; Roth P; Prieur F; Bessieres B; Bonniere M; Attie-Bitach T
Clin Genet; 2020 Sep; 98(3):261-273. PubMed ID: 32621347
[TBL] [Abstract][Full Text] [Related]
4. Compound heterozygous variants in MYH11 underlie autosomal recessive megacystis-microcolon-intestinal hypoperistalsis syndrome in a Chinese family.
Wang Q; Zhang J; Wang H; Feng Q; Luo F; Xie J
J Hum Genet; 2019 Nov; 64(11):1067-1073. PubMed ID: 31427716
[TBL] [Abstract][Full Text] [Related]
5. Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.
Halim D; Brosens E; Muller F; Wangler MF; Beaudet AL; Lupski JR; Akdemir ZHC; Doukas M; Stoop HJ; de Graaf BM; Brouwer RWW; van Ijcken WFJ; Oury JF; Rosenblatt J; Burns AJ; Tibboel D; Hofstra RMW; Alves MM
Am J Hum Genet; 2017 Jul; 101(1):123-129. PubMed ID: 28602422
[TBL] [Abstract][Full Text] [Related]
6. Compound heterozygous loss of function variants in MYL9 in a child with megacystis-microcolon-intestinal hypoperistalsis syndrome.
Kandler JL; Sklirou E; Woerner A; Walsh L; Cox E; Xue Y
Mol Genet Genomic Med; 2020 Nov; 8(11):e1516. PubMed ID: 33031641
[TBL] [Abstract][Full Text] [Related]
7. De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis.
Thorson W; Diaz-Horta O; Foster J; Spiliopoulos M; Quintero R; Farooq A; Blanton S; Tekin M
Hum Genet; 2014 Jun; 133(6):737-42. PubMed ID: 24337657
[TBL] [Abstract][Full Text] [Related]
8. Visceral myopathy: Clinical and molecular survey of a cohort of seven new patients and state of the art of overlapping phenotypes.
Moreno CA; Metze K; Lomazi EA; Bertola DR; Barbosa RH; Cosentino V; Sobreira N; Cavalcanti DP
Am J Med Genet A; 2016 Nov; 170(11):2965-2974. PubMed ID: 27481187
[TBL] [Abstract][Full Text] [Related]
9. 16p13.11 microdeletion uncovers loss-of-function of a MYH11 missense variant in a patient with megacystis-microcolon-intestinal-hypoperistalsis syndrome.
Kloth K; Renner S; Burmester G; Steinemann D; Pabst B; Lorenz B; Simon R; Kolbe V; Hempel M; Rosenberger G
Clin Genet; 2019 Jul; 96(1):85-90. PubMed ID: 31044419
[TBL] [Abstract][Full Text] [Related]
10. Homozygous deletion in MYL9 expands the molecular basis of megacystis-microcolon-intestinal hypoperistalsis syndrome.
Moreno CA; Sobreira N; Pugh E; Zhang P; Steel G; Torres FR; Cavalcanti DP
Eur J Hum Genet; 2018 May; 26(5):669-675. PubMed ID: 29453416
[TBL] [Abstract][Full Text] [Related]
11. 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; ; Gibbs RA; Lupski JR; Beaudet A
PLoS Genet; 2014 Mar; 10(3):e1004258. PubMed ID: 24676022
[TBL] [Abstract][Full Text] [Related]
12. Megacystis Microcolon Intestinal Hypoperistalsis Syndrome in Which a Different De Novo Actg2 Gene Mutation was Detected: A Case Report.
Korğalı EÜ; Yavuz A; Şimşek CEÇ; Güney C; Kurtulgan HK; Başer B; Atalar MH; Özer H; Eğilmez HR
Fetal Pediatr Pathol; 2018 Apr; 37(2):109-116. PubMed ID: 29608093
[TBL] [Abstract][Full Text] [Related]
13. Loss of LMOD1 impairs smooth muscle cytocontractility and causes megacystis microcolon intestinal hypoperistalsis syndrome in humans and mice.
Halim D; Wilson MP; Oliver D; Brosens E; Verheij JB; Han Y; Nanda V; Lyu Q; Doukas M; Stoop H; Brouwer RW; van IJcken WF; Slivano OJ; Burns AJ; Christie CK; de Mesy Bentley KL; Brooks AS; Tibboel D; Xu S; Jin ZG; Djuwantono T; Yan W; Alves MM; Hofstra RM; Miano JM
Proc Natl Acad Sci U S A; 2017 Mar; 114(13):E2739-E2747. PubMed ID: 28292896
[TBL] [Abstract][Full Text] [Related]
14. Consanguinity and its relevance for the incidence of megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS): systematic review.
Nakamura H; O'Donnell AM; Puri P
Pediatr Surg Int; 2019 Feb; 35(2):175-180. PubMed ID: 30386895
[TBL] [Abstract][Full Text] [Related]
15. 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. PubMed ID: 25998219
[TBL] [Abstract][Full Text] [Related]
16. Megacystis-microcolon-intestinal hypoperistalsis syndrome in a newborn girl whose brother had prune belly syndrome: common pathogenesis?
Oliveira G; Boechat MI; Ferreira MA
Pediatr Radiol; 1983; 13(5):294-6. PubMed ID: 6622092
[TBL] [Abstract][Full Text] [Related]
17. 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. PubMed ID: 15289943
[TBL] [Abstract][Full Text] [Related]
18. Familial megacystis microcolon intestinal hypoperistalsis syndrome: a systematic review.
Mc Laughlin D; Puri P
Pediatr Surg Int; 2013 Sep; 29(9):947-51. PubMed ID: 23955298
[TBL] [Abstract][Full Text] [Related]
19. Exploring the complexities of megacystis-microcolon-intestinal hypoperistalsis syndrome: insights from genetic studies.
Devavarapu PKV; Uppaluri KR; Nikhade VA; Palasamudram K; Sri Manjari K
Clin J Gastroenterol; 2024 Jun; 17(3):383-395. PubMed ID: 38461165
[TBL] [Abstract][Full Text] [Related]
20. Heterozygous Actg2
Cai H; Xiao Y; Chen S; Lu Y; Du J; You Y; Zhu J; Zhou J; Cai W; Wang Y
Neurogastroenterol Motil; 2023 Jan; 35(1):e14472. PubMed ID: 36264152
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
