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NEK1 mutations cause short-rib polydactyly syndrome type majewski.
Thiel C, Kessler K, Giessl A, Dimmler A, Shalev SA, von der Haar S, Zenker M, Zahnleiter D, Stöss H, Beinder E, Abou Jamra R, Ekici AB, Schröder-Kress N, Aigner T, Kirchner T, Reis A, Brandstätter JH, Rauch A. Thiel C, et al. Am J Hum Genet. 2011 Jan 7;88(1):106-14. doi: 10.1016/j.ajhg.2010.12.004. Am J Hum Genet. 2011. PMID: 21211617 Free PMC article.
Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome).
Zenker M, Mayerle J, Lerch MM, Tagariello A, Zerres K, Durie PR, Beier M, Hülskamp G, Guzman C, Rehder H, Beemer FA, Hamel B, Vanlieferinghen P, Gershoni-Baruch R, Vieira MW, Dumic M, Auslender R, Gil-da-Silva-Lopes VL, Steinlicht S, Rauh M, Shalev SA, Thiel C, Ekici AB, Winterpacht A, Kwon YT, Varshavsky A, Reis A. Zenker M, et al. Among authors: thiel c. Nat Genet. 2005 Dec;37(12):1345-50. doi: 10.1038/ng1681. Epub 2005 Nov 20. Nat Genet. 2005. PMID: 16311597
Disturbed Wnt Signalling due to a Mutation in CCDC88C Causes an Autosomal Recessive Non-Syndromic Hydrocephalus with Medial Diverticulum.
Ekici AB, Hilfinger D, Jatzwauk M, Thiel CT, Wenzel D, Lorenz I, Boltshauser E, Goecke TW, Staatz G, Morris-Rosendahl DJ, Sticht H, Hehr U, Reis A, Rauch A. Ekici AB, et al. Among authors: thiel ct. Mol Syndromol. 2010 Sep;1(3):99-112. doi: 10.1159/000319859. Epub 2010 Sep 14. Mol Syndromol. 2010. PMID: 21031079 Free PMC article.
Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders.
Reuter MS, Tawamie H, Buchert R, Hosny Gebril O, Froukh T, Thiel C, Uebe S, Ekici AB, Krumbiegel M, Zweier C, Hoyer J, Eberlein K, Bauer J, Scheller U, Strom TM, Hoffjan S, Abdelraouf ER, Meguid NA, Abboud A, Al Khateeb MA, Fakher M, Hamdan S, Ismael A, Muhammad S, Abdallah E, Sticht H, Wieczorek D, Reis A, Abou Jamra R. Reuter MS, et al. Among authors: thiel c. JAMA Psychiatry. 2017 Mar 1;74(3):293-299. doi: 10.1001/jamapsychiatry.2016.3798. JAMA Psychiatry. 2017. PMID: 28097321
Rare Loss-of-Function Mutation in SERPINA3 in Generalized Pustular Psoriasis.
Frey S, Sticht H, Wilsmann-Theis D, Gerschütz A, Wolf K, Löhr S, Haskamp S, Frey B, Hahn M, Ekici AB, Uebe S, Thiel C, Reis A, Burkhardt H, Behrens F, Köhm M, Rech J, Schett G, Assmann G, Kingo K, Kõks S, Mössner R, Prinz JC, Oji V, Schulz P, Muñoz LE, Kremer AE, Wenzel J, Hüffmeier U. Frey S, et al. Among authors: thiel c. J Invest Dermatol. 2020 Jul;140(7):1451-1455.e13. doi: 10.1016/j.jid.2019.11.024. Epub 2020 Jan 13. J Invest Dermatol. 2020. PMID: 31945348 Free article. No abstract available.
686 results