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American Journal of Medical Genetics. Part A|April 23, 2004
A prenatally diagnosed patient with full monosomy 21: ultrasound, cytogenetic, clinical, molecular, and necropsy findingsMaría A Mori, Pablo Lapunzina, Alicia Delicado, et al.Human Mutation|August 31, 2006
PAR1 deletions downstream of SHOX are the most frequent defect in a Spanish cohort of Léri-Weill dyschondrosteosis (LWD) probandsSara Benito-Sanz, Darya Gorbenko del Blanco, Miriam Aza-Carmona, et al.Proceedings of the National Academy of Sciences of the United States of America|December 19, 2009
Epigenetic inactivation of the Sotos overgrowth syndrome gene histone methyltransferase NSD1 in human neuroblastoma and gliomaMaría Berdasco, Santiago Ropero, Fernando Setien, et al.Genes|August 26, 2023
Cognitive-Behavioral Profile in Pediatric Patients with Syndrome 5p-; Genotype-Phenotype CorrelationshipsCristina Bel-Fenellós, Chantal Biencinto-López, Belén Sáenz-Rico, et al.Journal of Genetic Counseling|September 26, 2017
Translation and Cross-Cultural Adaptation with Preliminary Validation of GCOS-24 for Use in SpainPatricia Muñoz-Cabello, Sixto García-Miñaúr, Manuel Eliecer Espinel-Vallejo, et al.European Journal of Human Genetics : EJHG|June 28, 2018
Phenotype-loci associations in networks of patients with rare disorders: application to assist in the diagnosis of novel clinical casesAnibal Bueno, Rocío Rodríguez-López, Armando Reyes-Palomares, et al.Molecular Diagnosis : a Journal Devoted to the Understanding of Human Disease Through the Clinical Application of Molecular Biology|October 29, 2003
Hyperekplexia (startle disease): a novel mutation (S270T) in the M2 domain of the GLRA1 gene and a molecular review of the disorderPablo Lapunzina, Juan M Sánchez, Marta Cabrera, et al.Human Mutation|January 22, 2013
Genome-wide allelic methylation analysis reveals disease-specific susceptibility to multiple methylation defects in imprinting syndromesFranck Court, Alex Martin-Trujillo, Valeria Romanelli, et al.The Journal of Clinical Endocrinology and Metabolism|April 12, 2012
Detection of hypomethylation syndrome among patients with epigenetic alterations at the GNAS locusGustavo Perez-Nanclares, Valeria Romanelli, Sonia Mayo, et al.American Journal of Medical Genetics. Part A|August 16, 2014
Segmental uniparental isodisomy of chromosome 6 causing transient diabetes mellitus and merosin-deficient congenital muscular dystrophyRaissa Coelho Andrade, Julián Nevado, Maria Angélica de Faria Domingues de Lima, et al.Pageof 25