BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

337 related articles for article (PubMed ID: 30386895)

  • 1. 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]  

  • 2. 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]  

  • 3. Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), an autosomal recessive disorder: clinical reports and review of the literature.
    Annerén G; Meurling S; Olsen L
    Am J Med Genet; 1991 Nov; 41(2):251-4. PubMed ID: 1785644
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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. PubMed ID: 15543490
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. 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. PubMed ID: 22749573
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Megacystis microcolon intestinal hypoperistalsis syndrome: Case series and updated review of the literature with an emphasis on urologic management.
    Wymer KM; Anderson BB; Wilkens AA; Gundeti MS
    J Pediatr Surg; 2016 Sep; 51(9):1565-73. PubMed ID: 27421821
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. Esophageal dysmotility: An intrinsic feature of megacystis, microcolon, hypoperistalsis syndrome (MMIHS).
    Kocoshis SA; Goldschmidt ML; Nathan JD; El-Chammas KI; Bondoc AJ; Tiao GM; Alonso MH; Ubesie AC; Cole CR; Kaul A
    J Pediatr Surg; 2019 Jul; 54(7):1303-1307. PubMed ID: 30257810
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Tension Pneumoperitoneum: A Rare Presentation Of Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.
    Raza F; Jehangir M; Nazir R; Khan NA
    J Ayub Med Coll Abbottabad; 2019; 31(1):136-137. PubMed ID: 30868801
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Megacystis Microcolon Intestinal Hypoperistalsis Syndrome: Report of a Rare Case in Newborn.
    Tarlan S; Mahyar A; Chegini V; Chegini V
    Acta Med Iran; 2015 Aug; 53(8):518-22. PubMed ID: 26545999
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Megacystis microcolon intestinal hypoperistalsis syndrome: systematic review of outcome.
    Gosemann JH; Puri P
    Pediatr Surg Int; 2011 Oct; 27(10):1041-6. PubMed ID: 21792650
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Megacystis microcolon intestinal hypoperistalsis syndrome.
    Hiradfar M; Shojaeian R; Dehghanian P; Hajian S
    BMJ Case Rep; 2013 May; 2013():. PubMed ID: 23729700
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Syndromic and single gene disorders associated with fetal megacystis (I): Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS).
    Chen CP
    Taiwan J Obstet Gynecol; 2024 Jan; 63(1):19-21. PubMed ID: 38216263
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Megacystis-microcolon-intestinal hypoperistalsis syndrome: the difficulties with antenatal diagnosis. Case report and review of the literature.
    White SM; Chamberlain P; Hitchcock R; Sullivan PB; Boyd PA
    Prenat Diagn; 2000 Sep; 20(9):697-700. PubMed ID: 11015695
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Megacystis microcolon intestinal hypoperistalsis syndrome: A report of a nationwide survey in Japan.
    Soh H; Fukuzawa M; Kubota A; Kawahara H; Ueno T; Taguchi T
    J Pediatr Surg; 2015 Dec; 50(12):2048-50. PubMed ID: 26413901
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 17.