L.A. Pérez Jurado

Mutational Mechanisms of Williams-Beuren Syndrome Deletions

Mónica Bayés, Luis F. Magano, Nuria Fernández Rivera et al. · The American Journal of Human Genetics · 2003 · 344 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals

Emilia K. Bijlsma, A.C.J. Gijsbers, Janneke Schuurs-Hoeijmakers et al. · European Journal of Medical Genetics · 2009 · 292 citations

Life Sciences, Genetics, Molecular Genetics +16

Molecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growth.

L.A. Pérez Jurado, Risa Peoples, Paige Kaplan et al. · PubMed · 1996 · 233 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

<i>STAG3</i> , a novel gene encoding a protein involved in meiotic chromosome pairing and location of <i>STAG3</i> ‐related genes flanking the Williams‐Beuren syndrome deletion

Nieves Pezzi, Ignacio Priéto, Leonor Kremer et al. · The FASEB Journal · 2000 · 142 citations

Life Sciences, Genetics, Molecular Biology +17

Identification of a Human Homolog of the Drosophila rotated abdomen Gene (POMT1) Encoding a Putative Protein O-Mannosyl-Transferase, and Assignment to Human Chromosome 9q34.1

L.A. Pérez Jurado, Antonio Coloma, Jesús Cruces · Genomics · 1999 · 121 citations

Life Sciences, Genetics, Molecular Genetics +8