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Journal Abstract Search

305 related items for PubMed ID: 25407000

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  • 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
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  • 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
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  • 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
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  • 10. Genome-wide analysis identifies MYH11 compound heterozygous variants leading to visceral myopathy corresponding to late-onset form of megacystis-microcolon-intestinal hypoperistalsis syndrome.
    Billon C, Piccoli GB, de Sainte Agathe JM, Stoeva R, Derive N, Heidet L, Berrebi D, Bruneval P, Jeunemaitre X, Hureaux M.
    Mol Genet Genomics; 2024 Apr 16; 299(1):44. PubMed ID: 38625590
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  • 15. 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 16; 35(2):175-180. PubMed ID: 30386895
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