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Select item 44203831.

Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome Associated With Prune Belly Syndrome: A Case Report

Tanveer Akhtar, Anand Alladi, OS Siddappa

J Neonatal Surg. 2012 Apr-Jun; 1(2): 26. Published online 2012 Apr 1.

PMCID:: PMC4420383

Abstract Article PDF–453K

Select item 84232872.

Megacystis in the first trimester of pregnancy: Prognostic factors and perinatal outcomes

Emmanuelle Lesieur, Mathilde Barrois, Mathilde Bourdon, Julie Blanc, Laurence Loeuillet, Clémence Delteil, Julia Torrents, Florence Bretelle, Gilles Grangé, Vassilis Tsatsaris, Olivia Anselem

PLoS One. 2021; 16(9): e0255890. Published online 2021 Sep 7. doi: 10.1371/journal.pone.0255890

PMCID:: PMC8423287

Abstract Article PDF–854K

Select item 80263163.

Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome (MMIHS): Series of 4 Cases Caused by Mutation of ACTG2 (Actin Gamma 2, Smooth Muscle) Gene

Katarzyna Ignasiak-Budzyńska, Mikołaj Danko, Janusz Książyk

Case Rep Gastrointest Med. 2021; 2021: 6612983. Published online 2021 Mar 30. doi: 10.1155/2021/6612983

PMCID:: PMC8026316

Abstract Article PDF–597K

Select item 77884904.

Imaging findings of a twin male neonate with megacystis microcolon intestinal hypoperistalsis syndrome

Jennifer Lim, Jack Hua, Christopher Arcement

Radiol Case Rep. 2021 Mar; 16(3): 628–630. Published online 2021 Jan 5. doi: 10.1016/j.radcr.2020.12.055

PMCID:: PMC7788490

Abstract Article PDF–528K

Select item 76673575.

Compound heterozygous loss of function variants in MYL9 in a child with megacystis–microcolon–intestinal hypoperistalsis syndrome

Justin L. Kandler, Evgenia Sklirou, Audrey Woerner, Leslie Walsh, Eleina Cox, Yuan Xue

Mol Genet Genomic Med. 2020 Nov; 8(11): e1516. Published online 2020 Oct 8. doi: 10.1002/mgg3.1516

PMCID:: PMC7667357

Abstract Article PDF–374K

Select item 76647226.

Megacystis-microcolon-intestinal hypoperistalsis syndrome associated with cystic fibrosis and meconium peritonitis in a female neonate 4 days of age – case report and review of the literature

Adrian Surd, Dan Gheban, Aurel Mironescu, Cornel Aldea, Horaţiu Gocan

Med Pharm Rep. 2020 Oct; 93(4): 422–427. Published online 2020 Oct 25. doi: 10.15386/mpr-1583

PMCID:: PMC7664722

Abstract Article PDF–1.2M

Select item 39679507.

Heterozygous De Novo and Inherited Mutations in the Smooth Muscle Actin (ACTG2) Gene Underlie Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome

Michael F. Wangler, Claudia Gonzaga-Jauregui, Tomasz Gambin, Samantha Penney, Timothy Moss, Atul Chopra, Frank J. Probst, Fan Xia, Yaping Yang, Steven Werlin, Ieva Eglite, Liene Kornejeva, Carlos A. Bacino, Dustin Baldridge, Jeff Neul, Efrat Lev Lehman, Austin Larson, Joke Beuten, Donna M. Muzny, Shalini Jhangiani, Baylor-Hopkins Center for Mendelian Genomics, Richard A. Gibbs, James R. Lupski, Arthur Beaudet

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

PMCID:: PMC3967950

Abstract Article PDF–1.8M

Select item 41404368.

Spontaneous resolution of isolated congenital megacystis: the incredible shrinking bladder

Emilie K. Johnson, Caleb P. Nelson

J Pediatr Urol. Author manuscript; available in PMC 2014 Aug 21.

Published in final edited form as: J Pediatr Urol. 2013 Feb; 9(1): e46–e50. Published online 2012 Aug 19. doi: 10.1016/j.jpurol.2012.07.012

PMCID:: PMC4140436

Abstract Article PDF–1.3M

Select item 72668029.

Vesicoamniotic shunting for fetal megacystis in the first trimester with a Somatex^® intrauterine shunt

B. Strizek, I. Gottschalk, F. Recker, E. Weber, A. Flöck, U. Gembruch, A. Geipel, C. Berg

Arch Gynecol Obstet. 2020; 302(1): 133–140. Published online 2020 May 24. doi: 10.1007/s00404-020-05598-z

PMCID:: PMC7266802

Abstract Article PDF–891K

Select item 676058410.

Compound heterozygous variants in MYH11 underlie autosomal recessive megacystis-microcolon-intestinal hypoperistalsis syndrome in a Chinese family

Qin Wang, Jianming Zhang, Hui Wang, Qing Feng, Fuwei Luo, Jiansheng Xie

J Hum Genet. 2019; 64(11): 1067–1073. Published online 2019 Aug 19. doi: 10.1038/s10038-019-0651-z

PMCID:: PMC6760584

Abstract Article PDF–686K

Select item 48057511.

A study of the vesical ganglia in children and the relationship to the megaureter megacystis syndrome and Hirschsprung's disease

Sidney Leibowitz, Martin Bodian

J Clin Pathol. 1963 Jul; 16(4): 342–350. doi: 10.1136/jcp.16.4.342

PMCID:: PMC480575

Summary Page Browse PDF–1.2M

Select item 659371712.

Fetal megacystis: a lot more than LUTO

F. Fontanella, L. Maggio, J. B. G. M. Verheij, L. K. Duin, P. N. Adama Van Scheltema, T. E. Cohen‐Overbeek, E. Pajkrt, M. Bekker, C. Willekes, C. J. Bax, V. Gracchi, D. Oepkes, C. M. Bilardo

Ultrasound Obstet Gynecol. 2019 Jun; 53(6): 779–787. Published online 2019 Jun 6. doi: 10.1002/uog.19182

PMCID:: PMC6593717

Abstract Article PDF–264K

Select item 648298113.

Antenatal Workup of Early Megacystis and Selection of Candidates for Fetal Therapy

Federica Fontanella, Leonie Duin, Phebe N. Adama van Scheltema, Titia E. Cohen-Overbeek, Eva Pajkrt, Mireille Bekker, Christine Willekes, Caroline J. Bax, Dick Oepkes, Catia M. Bilardo

Fetal Diagn Ther. 2019 Mar; 45(3): 155–161. Published online 2018 May 17. doi: 10.1159/000488282

PMCID:: PMC6482981

Abstract Article

Select item 803323714.

Urethral duplication with congenital megacystis and obstructive megaureter – A rare association

Praveen Singh, H. Krishnamoorthy, S. Pillai Biju

Indian J Urol. 2021 Jan-Mar; 37(1): 79–81. Published online 2021 Jan 1. doi: 10.4103/iju.IJU_374_19

PMCID:: PMC8033237

Abstract Article PDF–1.2M

Select item 453821515.

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

Julie Gauthier, Bouchra Ouled Amar Bencheikh, Fadi F Hamdan, Steven M Harrison, Linda A Baker, Françoise Couture, Isabelle Thiffault, Reda Ouazzani, Mark E Samuels, Grant A Mitchell, Guy A Rouleau, Jacques L Michaud, Jean- François Soucy

Eur J Hum Genet. 2015 Sep; 23(9): 1266–1268. Published online 2014 Nov 19. doi: 10.1038/ejhg.2014.256