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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1968 1
1978 1
1985 1
1986 1
1989 1
1992 2
1994 1
1996 2
1997 1
1998 1
1999 2
2005 1
2007 2
2008 2
2010 1
2011 1
2013 1
2014 1
2016 2
2017 2
2020 2
2021 1
2024 0

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PubMed (OMIM) for id: 4645

29 results

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Page 1
Congenital Diarrhea and Cholestatic Liver Disease: Phenotypic Spectrum Associated with MYO5B Mutations.
Aldrian D, Vogel GF, Frey TK, Ayyıldız Civan H, Aksu AÜ, Avitzur Y, Ramos Boluda E, Çakır M, Demir AM, Deppisch C, Duba HC, Düker G, Gerner P, Hertecant J, Hornová J, Kathemann S, Koeglmeier J, Koutroumpa A, Lanzersdorfer R, Lev-Tzion R, Lima R, Mansour S, Meissl M, Melek J, Miqdady M, Montoya JH, Posovszky C, Rachman Y, Siahanidou T, Tabbers M, Uhlig HH, Ünal S, Wirth S, Ruemmele FM, Hess MW, Huber LA, Müller T, Sturm E, Janecke AR. Aldrian D, et al. J Clin Med. 2021 Jan 28;10(3):481. doi: 10.3390/jcm10030481. J Clin Med. 2021. PMID: 33525641 Free PMC article.
Mutations in Myosin 5B in Children With Early-onset Cholestasis.
Cockar I, Foskett P, Strautnieks S, Clinch Y, Fustok J, Rahman O, Sutton H, Mtegha M, Fessatou S, Kontaki E, Papaevangelou V, Deheragoda M, Thompson RJ, Grammatikopoulos T. Cockar I, et al. J Pediatr Gastroenterol Nutr. 2020 Aug;71(2):184-188. doi: 10.1097/MPG.0000000000002740. J Pediatr Gastroenterol Nutr. 2020. PMID: 32304554
Microvillous atrophy: atypical presentations.
Perry A, Bensallah H, Martinez-Vinson C, Berrebi D, Arbeille B, Salomon J, Goulet O, Marinier E, Drunat S, Samson-Bouma ME, Gérard B, Hugot JP. Perry A, et al. J Pediatr Gastroenterol Nutr. 2014 Dec;59(6):779-85. doi: 10.1097/MPG.0000000000000526. J Pediatr Gastroenterol Nutr. 2014. PMID: 25111220
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. Szperl AM, et al. J Pediatr Gastroenterol Nutr. 2011 Mar;52(3):307-13. doi: 10.1097/MPG.0b013e3181eea177. J Pediatr Gastroenterol Nutr. 2011. PMID: 21206382 Free PMC article.
Loss-of-function of MYO5B is the main cause of microvillus inclusion disease: 15 novel mutations and a CaCo-2 RNAi cell model.
Ruemmele FM, Müller T, Schiefermeier N, Ebner HL, Lechner S, Pfaller K, Thöni CE, Goulet O, Lacaille F, Schmitz J, Colomb V, Sauvat F, Revillon Y, Canioni D, Brousse N, de Saint-Basile G, Lefebvre J, Heinz-Erian P, Enninger A, Utermann G, Hess MW, Janecke AR, Huber LA. Ruemmele FM, et al. Hum Mutat. 2010 May;31(5):544-51. doi: 10.1002/humu.21224. Hum Mutat. 2010. PMID: 20186687
29 results