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Mutations in the human UBR1 gene and the associated phenotypic spectrum.
Sukalo M, Fiedler A, Guzmán C, Spranger S, Addor MC, McHeik JN, Oltra Benavent M, Cobben JM, Gillis LA, Shealy AG, Deshpande C, Bozorgmehr B, Everman DB, Stattin EL, Liebelt J, Keller KM, Bertola DR, van Karnebeek CD, Bergmann C, Liu Z, Düker G, Rezaei N, Alkuraya FS, Oğur G, Alrajoudi A, Venegas-Vega CA, Verbeek NE, Richmond EJ, Kirbiyik O, Ranganath P, Singh A, Godbole K, Ali FA, Alves C, Mayerle J, Lerch MM, Witt H, Zenker M. Sukalo M, et al. Among authors: gillis la. Hum Mutat. 2014 May;35(5):521-31. doi: 10.1002/humu.22538. Epub 2014 Apr 9. Hum Mutat. 2014. PMID: 24599544 Review.
Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B.
Krantz ID, McCallum J, DeScipio C, Kaur M, Gillis LA, Yaeger D, Jukofsky L, Wasserman N, Bottani A, Morris CA, Nowaczyk MJ, Toriello H, Bamshad MJ, Carey JC, Rappaport E, Kawauchi S, Lander AD, Calof AL, Li HH, Devoto M, Jackson LG. Krantz ID, et al. Among authors: gillis la. Nat Genet. 2004 Jun;36(6):631-5. doi: 10.1038/ng1364. Epub 2004 May 16. Nat Genet. 2004. PMID: 15146186 Free PMC article.
Diagnosis of Muscular Dystrophy in a 6-Week-Old With Jaundice.
Russell AC, Gillis LA. Russell AC, et al. Among authors: gillis la. J Pediatr Gastroenterol Nutr. 2017 Apr;64(4):e107-e108. doi: 10.1097/MPG.0000000000000671. J Pediatr Gastroenterol Nutr. 2017. PMID: 25493347 No abstract available.
Clinical Practice Approach to Nonalcoholic Fatty Liver Disease by Pediatric Gastroenterologists in the United States.
Shapiro WL, Yu EL, Arin JC, Murray KF, Ali S, Desai NK, Xanthakos SA, Lin HC, Alkhouri N, Abdou R, Abrams SH, Butler MW, Faasse SA, Gillis LA, Hadley TA, Jain AK, Kavan M, Kordy K, Lee P, Panganiban J, Pohl JF, Potter C, Rudolph B, Sundaram SS, Joshi S, Proudfoot JA, Goyal NP, Harlow KE, Newton KP, Schwimmer JB. Shapiro WL, et al. Among authors: gillis la. J Pediatr Gastroenterol Nutr. 2019 Feb;68(2):182-189. doi: 10.1097/MPG.0000000000002194. J Pediatr Gastroenterol Nutr. 2019. PMID: 30640271 Free PMC article.
25 results