Publications by authors named "Manuela Villamar"

18Publications

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.

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

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.

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

Hypothesizing an ancient Greek origin of the GJB2 35delG mutation: can science meet history?

Genet Test Mol Biomarkers 2010 Apr;14(2):183-7

Department of Genetics, Institute of Child Health, Aghia Sophia Children's Hospital, Athens, Greece.

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http://dx.doi.org/10.1089/gtmb.2009.0146DOI Listing
April 2010

Genetic and phenotypic heterogeneity in two novel cases of Waardenburg syndrome type IV.

Am J Med Genet A 2009 Oct;149A(10):2296-302

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

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http://dx.doi.org/10.1002/ajmg.a.33026DOI Listing
October 2009

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.

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