Irene Madrigal

Penetrance of FMR1 premutation associated pathologies in fragile X syndrome families

Laia Rodríguez‐Revenga, Irene Madrigal, Javier Pagonabarraga et al. · European Journal of Human Genetics · 2009 · 316 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +7

Atypical XX male with the <i>SRY</i> gene located at the long arm of chromosome 1 and a 1qter microdeletion

Rosa Queralt, Irene Madrigal, M. Angeles Vallecillos et al. · American Journal of Medical Genetics Part A · 2008 · 99 citations

Cytogenetics, Genetics, Molecular Genetics +22

Dosage-Dependent Severity of the Phenotype in Patients with Mental Retardation Due to a Recurrent Copy-Number Gain at Xq28 Mediated by an Unusual Recombination

Joke Vandewalle, Hilde Van Esch, Karen Govaerts et al. · The American Journal of Human Genetics · 2009 · 84 citations · Full text

Recurrent Copy-number Gain, Mendelian Disorder, Genetic Disorder +8

Pseudodicentric 22;Y translocation transmitted through four generations of a large family without phenotypic repercussion

Carmen Morales, Anna Soler, Jordi Bruguera et al. · Cytogenetic and Genome Research · 2007 · 81 citations

Cytogenetics, Genetics, Reproductive Biology +26

Prenatal diagnosis of two different unbalanced forms of an inherited (Y;12) translocation

Irene Mademont‐Soler, Carmen Morales, Irene Madrigal et al. · American Journal of Medical Genetics Part A · 2009 · 78 citations