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Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease.
Neřoldová M, Ciara E, Slatinská J, Fraňková S, Lišková P, Kotalová R, Globinovská J, Šafaříková M, Pfeiferová L, Zůnová H, Mrázová L, Stránecký V, Vrbacká A, Fabián O, Sticová E, Skanderová D, Šperl J, Kalousová M, Zima T, Macek M, Pawlowska J, Knisely AS, Kmoch S, Jirsa M. Neřoldová M, et al. Among authors: kotalova r. PLoS One. 2023 Jul 20;18(7):e0288907. doi: 10.1371/journal.pone.0288907. eCollection 2023. PLoS One. 2023. PMID: 37471416 Free PMC article.
Constitutively active Lyn kinase causes a cutaneous small vessel vasculitis and liver fibrosis syndrome.
de Jesus AA, Chen G, Yang D, Brdicka T, Ruth NM, Bennin D, Cebecauerova D, Malcova H, Freeman H, Martin N, Svojgr K, Passo MH, Bhuyan F, Alehashemi S, Rastegar AT, Uss K, Kardava L, Marrero B, Duric I, Omoyinmi E, Peldova P, Lee CR, Kleiner DE, Hadigan CM, Hewitt SM, Pittaluga S, Carmona-Rivera C, Calvo KR, Shah N, Balascakova M, Fink DL, Kotalova R, Parackova Z, Peterkova L, Kuzilkova D, Campr V, Sramkova L, Biancotto A, Brooks SR, Manes C, Meffre E, Harper RL, Kuehn H, Kaplan MJ, Brogan P, Rosenzweig SD, Merchant M, Deng Z, Huttenlocher A, Moir SL, Kuhns DB, Boehm M, Skvarova Kramarzova K, Goldbach-Mansky R. de Jesus AA, et al. Among authors: kotalova r. Nat Commun. 2023 Mar 17;14(1):1502. doi: 10.1038/s41467-023-36941-y. Nat Commun. 2023. PMID: 36932076 Free PMC article.
Conjugated Hyperbilirubinemia in Infants: Is There Still a Role for ERCP?
Stovicek J, Hlava S, Keil R, Drabek J, Lochmannova J, Koptová P, Wasserbauer M, Frybova B, Snajdauf J, Kotalova R, Rygl M. Stovicek J, et al. Among authors: kotalova r. Can J Gastroenterol Hepatol. 2021 Jun 24;2021:9969825. doi: 10.1155/2021/9969825. eCollection 2021. Can J Gastroenterol Hepatol. 2021. PMID: 34258256 Free PMC article.
ABCB4 disease mimicking morbus Wilson: A potential diagnostic pitfall.
Sticova E, Neroldova M, Kotalova R, Subhanova I, Jirsa M. Sticova E, et al. Among authors: kotalova r. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2020 Mar;164(1):121-125. doi: 10.5507/bp.2019.054. Epub 2019 Nov 15. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2020. PMID: 31728073 Free article.
Choledochal Cyst with 17q12 Chromosomal Duplication.
Kotalova R, Dusatkova P, Drabova J, Elblova L, Dedic T, Cinek O, Lebl J, Pruhova S. Kotalova R, et al. Ann Hum Genet. 2018 Jan;82(1):48-51. doi: 10.1111/ahg.12221. Epub 2017 Sep 22. Ann Hum Genet. 2018. PMID: 28940454
Alagille Syndrome Mimicking Biliary Atresia in Early Infancy.
Dědič T, Jirsa M, Keil R, Rygl M, Šnajdauf J, Kotalová R. Dědič T, et al. Among authors: kotalova r. PLoS One. 2015 Nov 30;10(11):e0143939. doi: 10.1371/journal.pone.0143939. eCollection 2015. PLoS One. 2015. PMID: 26618708 Free PMC article.
34 results