Publications by authors named "Celia Zazo Seco"

14Publications

Identification of PITX3 mutations in individuals with various ocular developmental defects.

Ophthalmic Genet 2018 06 6;39(3):314-320. Epub 2018 Feb 6.

a UDEAR , Université de Toulouse, UMRS 1056 INSERM-Université Paul Sabatier , Toulouse , France.

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http://dx.doi.org/10.1080/13816810.2018.1430243DOI Listing
June 2018

Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5.

Eur J Hum Genet 2015 Feb 30;23(2):189-94. Epub 2014 Apr 30.

1] Department of Otorhinolaryngology, Hearing & Genes, Radboud University Medical Center, Nijmegen, The Netherlands [2] Nijmegen Centre for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands [3] Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2014.83DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4297911PMC
February 2015

Detection of hypomethylation syndrome among patients with epigenetic alterations at the GNAS locus.

J Clin Endocrinol Metab 2012 06 4;97(6):E1060-7. Epub 2012 Apr 4.

Molecular (Epi)Genetics Lab Research Unit, Hospital Txagorritxu, E-01009, Vitoria-Gasteiz, Alava, Spain.

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http://dx.doi.org/10.1210/jc.2012-1081DOI Listing
June 2012