Publications by authors named "Francisco J del Castillo"

15Publications

DFNB1 Non-syndromic Hearing Impairment: Diversity of Mutations and Associated Phenotypes.

Front Mol Neurosci 2017 22;10:428. Epub 2017 Dec 22.

Servicio de Genética, Hospital Universitario Ramón y Cajal, IRYCIS, Madrid, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3389/fnmol.2017.00428DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5743749PMC
December 2017

Mutations in PRPS1 causing syndromic or nonsyndromic hearing impairment: intrafamilial phenotypic variation complicates genetic counseling.

Pediatr Res 2015 Jul 18;78(1):97-102. Epub 2015 Mar 18.

1] Servicio de Genética, Hospital Universitario Ramón y Cajal, IRYCIS, Madrid, Spain [2] Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/pr.2015.56DOI Listing
July 2015

Contribution of mutation load to the intrafamilial genetic heterogeneity in a large cohort of Spanish retinal dystrophies families.

Invest Ophthalmol Vis Sci 2014 Oct 23;55(11):7562-71. Epub 2014 Oct 23.

Department of Genetics, Fundacion Jimenez Diaz University Hospital (IIS - FJD, UAM), Madrid, Spain Centre for Biomedical Network Research on Rare Diseases, ISCIII, Valencia, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1167/iovs.14-14938DOI Listing
October 2014

A novel splice-site mutation in the GJB2 gene causing mild postlingual hearing impairment.

PLoS One 2013 6;8(9):e73566. Epub 2013 Sep 6.

Unidad de Genética Molecular, Hospital Universitario Ramón y Cajal, Instituto Ramón y Cajal de Investigación Sanitaria (IRYCIS), Madrid, Spain ; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain.

View Article

Download full-text PDF

Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0073566PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3765306PMC
June 2014

Hearing is normal without connexin30.

J Neurosci 2013 Jan;33(2):430-4

Collège de France, Centre Interdisciplinaire de Recherche en Biologie (CIRB)/Centre National de la Recherche Scientifique (CNRS), Unité Mixte de Recherche (UMR) 7241/Institut National de la Santé et de la Recherche Médicale (Inserm), U1050, 75231 Paris cedex 05, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1523/JNEUROSCI.4240-12.2013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6704917PMC
January 2013

Genetics of isolated auditory neuropathies.

Front Biosci (Landmark Ed) 2012 Jan 1;17:1251-65. Epub 2012 Jan 1.

Unidad de Genetica Molecular, Hospital Universitario Ramon y Cajal, IRYCIS, Madrid, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.2741/3984DOI Listing
January 2012

The DFNB1 subtype of autosomal recessive non-syndromic hearing impairment.

Front Biosci (Landmark Ed) 2011 Jun 1;16:3252-74. Epub 2011 Jun 1.

Unidad de Genetica Molecular, Hospital Universitario Ramon y Cajal, IRYCIS, Madrid, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.2741/3910DOI Listing
June 2011

Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy.

Nat Genet 2006 Jul 25;38(7):770-8. Epub 2006 Jun 25.

Unité de Génétique des Déficits Sensoriels INSERM U587, Institut Pasteur, 25, rue du Docteur Roux, 75724 Paris Cedex 15, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ng1829DOI Listing
July 2006

A deletion involving the connexin 30 gene in nonsyndromic hearing impairment.

N Engl J Med 2002 Jan;346(4):243-9

Unidad de Genética Molecular, Hospital Ramón y Cajal, Madrid, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1056/NEJMoa012052DOI Listing
January 2002