Publications by authors named "Ines Pereiro"

6Publications

[Algorithm for the molecular analysis of Bardet-Biedl syndrome in Spain].

Authors:
Sheila Castro-Sánchez María Álvarez-Satta Inés Pereiro M Teresa Piñeiro-Gallego Diana Valverde

Med Clin (Barc) 2015 Aug 30;145(4):147-52. Epub 2014 Jul 30.

Departamento de Bioquímica, Genética e Inmunología, Facultad de Biología, Universidad de Vigo, Vigo, Pontevedra, España. Electronic address:

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August 2015

Clinical evaluation of two consanguineous families with homozygous mutations in BEST1.

Authors:
Teresa Piñeiro-Gallego María Álvarez Inés Pereiro Severiano Campos Dror Sharon Patrik Schatz Diana Valverde

Mol Vis 2011 16;17:1607-17. Epub 2011 Jun 16.

Departamento de Bioquímica, Genética e Inmunología, Facultad de Biología, Universidad de Vigo, Vigo, Spain.

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November 2011

Arrayed primer extension technology simplifies mutation detection in Bardet-Biedl and Alström syndrome.

Authors:
Ines Pereiro Bethan E Hoskins Jan D Marshall Gayle B Collin Jürgen K Naggert Teresa Piñeiro-Gallego Eneli Oitmaa Nicholas Katsanis Diana Valverde Philip L Beales

Eur J Hum Genet 2011 Apr 15;19(4):485-8. Epub 2010 Dec 15.

Departamento de Bioquímica, Genética e Inmunología, Facultad de Biología, Universidad de Vigo, Vigo, Spain.

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April 2011

Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71.

Authors:
Darryl Y Nishimura Lisa M Baye Rahat Perveen Charles C Searby Almudena Avila-Fernandez Ines Pereiro Carmen Ayuso Diana Valverde Paul N Bishop Forbes D C Manson Jill Urquhart Edwin M Stone Diane C Slusarski Graeme C M Black Val C Sheffield

Am J Hum Genet 2010 May 15;86(5):686-95. Epub 2010 Apr 15.

Department of Pediatrics, University of Iowa, Iowa City, IA 52242, USA.

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May 2010

New mutations in BBS genes in small consanguineous families with Bardet-Biedl syndrome: detection of candidate regions by homozygosity mapping.

Authors:
Ines Pereiro Diana Valverde Teresa Piñeiro-Gallego Montserrat Baiget Salud Borrego Carmen Ayuso Charles Searby Darryl Nishimura

Mol Vis 2010 Feb 1;16:137-43. Epub 2010 Feb 1.

Facultad de Biología, Universidad de Vigo, Pontevedra, Spain.

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February 2010

Complexity of phenotype-genotype correlations in Spanish patients with RDH12 mutations.

Authors:
Diana Valverde Ines Pereiro Elena Vallespín Carmen Ayuso Salud Borrego Montserrat Baiget

Invest Ophthalmol Vis Sci 2009 Mar 14;50(3):1065-8. Epub 2008 Nov 14.

Departamento de Bioquímica, Genética e Inmunología, Universidad de Vigo, Vigo, Spain.

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March 2009