Magdalena Beneyto

Novel (60%) and Recurrent (40%) Androgen Receptor Gene Mutations in a Series of 59 Patients with a 46,XY Disorder of Sex Development

Laura Audí, Mónica Fernández‐Cancio, Antonio Carrascosa et al. · The Journal of Clinical Endocrinology & Metabolism · 2010 · 147 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Mutations in the Pre-mRNA Splicing-Factor Genes<i>PRPF3</i>,<i>PRPF8</i>, and<i>PRPF31</i>in Spanish Families with Autosomal Dominant Retinitis Pigmentosa

Mari ́a Marti ́nez-Gimeno, Mari ́a Jose ́ Gamundi, Imma Hernán et al. · Investigative Ophthalmology & Visual Science · 2003 · 98 citations

Life Sciences, Genetics, Ophthalmology +15

A Common Ancestral Origin of the Frequent and Widespread 2299delG USH2A Mutation

Bo Dreyer, Lisbeth Tranebjærg, Vigdis Brox et al. · The American Journal of Human Genetics · 2001 · 80 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II

Elena Aller, Teresa Jaijo, Magdalena Beneyto et al. · Journal of Medical Genetics · 2006 · 79 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

<i>MYO7A</i> mutation screening in Usher syndrome type I patients from diverse origins

Teresa Jaijo, Elena Aller, Magdalena Beneyto et al. · Journal of Medical Genetics · 2007 · 72 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17