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A new case of Kaufman Oculocerebrofacial syndrome caused by two splicing variants in UBE3B and review of the literature.
Couloigner L, Planes M, Ka C, Audebert-Bellanger S, Redon S, Benech C, Rouault K, Küry S, Peudenier S, Autret S, Gourlaouen I, Bonneau D, Odent S, Bézieau S, Gilbert-Dussardier B, Toutain A, Boland A, Deleuze JF, Le Marechal C, Le Gac G, Ferec C, Uguen K. Couloigner L, et al. Among authors: bezieau s. Clin Genet. 2023 Mar;103(3):377-379. doi: 10.1111/cge.14270. Epub 2022 Dec 1. Clin Genet. 2023. PMID: 36444497 Review. No abstract available.
Trypsinogen copy number mutations in patients with idiopathic chronic pancreatitis.
Masson E, Le Maréchal C, Chandak GR, Lamoril J, Bezieau S, Mahurkar S, Bhaskar S, Reddy DN, Chen JM, Férec C. Masson E, et al. Among authors: bezieau s. Clin Gastroenterol Hepatol. 2008 Jan;6(1):82-8. doi: 10.1016/j.cgh.2007.10.004. Epub 2007 Dec 11. Clin Gastroenterol Hepatol. 2008. PMID: 18063422
Clinical utility gene card for: acrodermatitis enteropathica.
Küry S, Kharfi M, Schmitt S, Bézieau S. Küry S, et al. Among authors: bezieau s. Eur J Hum Genet. 2012 Mar;20(3). doi: 10.1038/ejhg.2011.227. Epub 2011 Dec 14. Eur J Hum Genet. 2012. PMID: 22166942 Free PMC article. No abstract available.
Clinical utility gene card for: biotinidase deficiency.
Küry S, Ramaekers V, Bézieau S, Wolf B. Küry S, et al. Among authors: bezieau s. Eur J Hum Genet. 2012 May;20(5). doi: 10.1038/ejhg.2012.28. Epub 2012 Feb 29. Eur J Hum Genet. 2012. PMID: 22378278 Free PMC article. No abstract available.
Evaluation of the colorectal cancer risk conferred by rare UNC5C alleles.
Küry S, Garrec C, Airaud F, Breheret F, Guibert V, Frenard C, Jiao S, Bonneau D, Berthet P, Bossard C, Ingster O, Cauchin E, Bezieau S. Küry S, et al. Among authors: bezieau s. World J Gastroenterol. 2014 Jan 7;20(1):204-13. doi: 10.3748/wjg.v20.i1.204. World J Gastroenterol. 2014. PMID: 24415873 Free PMC article.
237 results