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PUBMED FOR HANDHELDS

Journal Abstract Search


151 related items for PubMed ID: 39014344

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  • 2. Compound Heterozygous Myosin 5B (Myo5b) Mutation with Early Onset Progressive Cholestasis and No Intestinal Failure.
    Vij M, Shah V.
    Fetal Pediatr Pathol; 2022 Oct; 41(5):811-817. PubMed ID: 34338607
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  • 3. MYO5B and the Polygenic Landscape of Very Early-Onset Inflammatory Bowel Disease in an Ethnically Diverse Population.
    Watson A, Harris RA, Engevik AC, Oezguen N, Nicholson MR, Dooley S, Stubler R, Satter LF, Karam LB, Kellermayer R.
    Inflamm Bowel Dis; 2024 Aug 03. PubMed ID: 39096520
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  • 4. Exome sequencing analysis reveals variants in primary immunodeficiency genes in patients with very early onset inflammatory bowel disease.
    Kelsen JR, Dawany N, Moran CJ, Petersen BS, Sarmady M, Sasson A, Pauly-Hubbard H, Martinez A, Maurer K, Soong J, Rappaport E, Franke A, Keller A, Winter HS, Mamula P, Piccoli D, Artis D, Sonnenberg GF, Daly M, Sullivan KE, Baldassano RN, Devoto M.
    Gastroenterology; 2015 Nov 03; 149(6):1415-24. PubMed ID: 26193622
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  • 5. MYO5B Gene Mutations: A Not Negligible Cause of Intrahepatic Cholestasis of Infancy With Normal Gamma-Glutamyl Transferase Phenotype.
    Matarazzo L, Bianco AM, Athanasakis E, Serveres M, Francalanci P, Cenacchi G, Maggiore G, D'Adamo AP.
    J Pediatr Gastroenterol Nutr; 2022 May 01; 74(5):e115-e121. PubMed ID: 35129155
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  • 6. An Adult Case of Benign Recurrent Intrahepatic Cholestasis Due to MYO5B Deficiency.
    Mishima Y, Tsuruya K, Tazawa Y, Arase Y, Hirose S, Shiraishi K, Tanaka M, Isaki S, Kitamura T, Kagawa T.
    Tokai J Exp Clin Med; 2024 Sep 20; 49(3):133-136. PubMed ID: 39182182
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  • 7. Functional characterization of mutations in the myosin Vb gene associated with microvillus inclusion disease.
    Szperl AM, Golachowska MR, Bruinenberg M, Prekeris R, Thunnissen AM, Karrenbeld A, Dijkstra G, Hoekstra D, Mercer D, Ksiazyk J, Wijmenga C, Wapenaar MC, Rings EH, van IJzendoorn SC.
    J Pediatr Gastroenterol Nutr; 2011 Mar 20; 52(3):307-13. PubMed ID: 21206382
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  • 12. A de novo whole gene deletion of XIAP detected by exome sequencing analysis in very early onset inflammatory bowel disease: a case report.
    Kelsen JR, Dawany N, Martinez A, Grochowski CM, Maurer K, Rappaport E, Piccoli DA, Baldassano RN, Mamula P, Sullivan KE, Devoto M.
    BMC Gastroenterol; 2015 Nov 18; 15():160. PubMed ID: 26581487
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  • 13. Higher Prevalence of Monogenic Cause Among Very Early Onset Inflammatory Bowel Disease in Children: Experience From a Tertiary Care Center From Northern India.
    Poddar U, Aggarwal A, Jayalakshmi K, Sarma MS, Srivastava A, Rawat A, Yachha SK.
    Inflamm Bowel Dis; 2023 Oct 03; 29(10):1572-1578. PubMed ID: 36594920
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  • 14. MYO5B mutations cause cholestasis with normal serum gamma-glutamyl transferase activity in children without microvillous inclusion disease.
    Gonzales E, Taylor SA, Davit-Spraul A, Thébaut A, Thomassin N, Guettier C, Whitington PF, Jacquemin E.
    Hepatology; 2017 Jan 03; 65(1):164-173. PubMed ID: 27532546
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  • 16. MYO5B and bile salt export pump contribute to cholestatic liver disorder in microvillous inclusion disease.
    Girard M, Lacaille F, Verkarre V, Mategot R, Feldmann G, Grodet A, Sauvat F, Irtan S, Davit-Spraul A, Jacquemin E, Ruemmele F, Rainteau D, Goulet O, Colomb V, Chardot C, Henrion-Caude A, Debray D.
    Hepatology; 2014 Jul 03; 60(1):301-10. PubMed ID: 24375397
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