Expression of PROKR1 and PROKR2 in Human Enteric Neural Precursor Cells and Identification of Sequence Variants Suggest a Role in HSCR

by Ruiz-Ferrer, Macarena, Torroglosa, Ana, Núñez-Torres, Rocío, de Agustín, Juan Carlos, Antiñolo, Guillermo, Borrego, Salud
Published 2011

Co‐segregation of a homozygous SMN1 deletion and a heterozygous PMP22 duplication in a patient

by Fernández, Raquel M., Peciña, Ana, Muñoz‐Cabello, Beatriz, Antiñolo, Guillermo, Borrego, Salud
Published 2016

Next-generation-based targeted sequencing as an efficient tool for the study of the genetic background in Hirschsprung patients

by Luzón-Toro, Berta, Espino-Paisán, Laura, Fernández, Raquel Ma., Martín-Sánchez, Marta, Antiñolo, Guillermo, Borrego, Salud
Published 2015

Atypical Association of Angelman Syndrome and Klinefelter Syndrome in a Boy with 47,XXY Karyotype and Deletion 15q11.2-q13

by Sánchez, Javier, Peciña, Ana, Alonso-Luengo, Olga, González-Meneses, Antonio, Vázquez, Rocío, Antiñolo, Guillermo, Borrego, Salud
Published 2014

Contributions of PHOX2B in the Pathogenesis of Hirschsprung Disease

by Fernández, Raquel María, Mathieu, Yves, Luzón-Toro, Berta, Núñez-Torres, Rocío, González-Meneses, Antonio, Antiñolo, Guillermo, Amiel, Jeanne, Borrego, Salud
Published 2013

Novel One-Step Multiplex PCR-Based Method for HLA Typing and Preimplantational Genetic Diagnosis of β-Thalassemia

by Fernández, Raquel M., Peciña, Ana, Lozano-Arana, Maria Dolores, García-Lozano, Juan Carlos, Borrego, Salud, Antiñolo, Guillermo
Published 2013

Clinical and Technical Overview of Preimplantation Genetic Diagnosis for Fragile X Syndrome: Experience at the University Hospital Virgen del Rocio in Spain

by Fernández, Raquel M., Peciña, Ana, Lozano-Arana, Maria Dolores, Sánchez, Beatriz, García-Lozano, Juan Carlos, Borrego, Salud, Antiñolo, Guillermo
Published 2015

Exome Sequencing Reveals Novel and Recurrent Mutations with Clinical Significance in Inherited Retinal Dystrophies

by Pozo, María González-del, Méndez-Vidal, Cristina, Bravo-Gil, Nereida, Vela-Boza, Alicia, Dopazo, Joaquin, Borrego, Salud, Antiñolo, Guillermo
Published 2014

Novel RP1 mutations and a recurrent BBS1 variant explain the co-existence of two distinct retinal phenotypes in the same pedigree

by Méndez-Vidal, Cristina, Bravo-Gil, Nereida, González-del Pozo, María, Vela-Boza, Alicia, Dopazo, Joaquín, Borrego, Salud, Antiñolo, Guillermo
Published 2014

Mutation Screening of Multiple Genes in Spanish Patients with Autosomal Recessive Retinitis Pigmentosa by Targeted Resequencing

by González-del Pozo, María, Borrego, Salud, Barragán, Isabel, Pieras, Juan I., Santoyo, Javier, Matamala, Nerea, Naranjo, Belén, Dopazo, Joaquín, Antiñolo, Guillermo
Published 2011

Comprehensive Analysis of NRG1 Common and Rare Variants in Hirschsprung Patients

by Luzón-Toro, Berta, Torroglosa, Ana, Núñez-Torres, Rocío, Enguix-Riego, María Valle, Fernández, Raquel María, de Agustín, Juan Carlos, Antiñolo, Guillermo, Borrego, Salud
Published 2012

Comprehensive analysis of RET common and rare variants in a series of Spanish Hirschsprung patients confirms a synergistic effect of both kinds of events

by Núñez-Torres, Rocio, Fernández, Raquel M, Acosta, Manuel Jesus, Enguix-Riego, Maria del Valle, Marbá, Martina, Carlos de Agustín, Juan, Castaño, Luis, Antiñolo, Guillermo, Borrego, Salud
Published 2011

Mutational Spectrum of Semaphorin 3A and Semaphorin 3D Genes in Spanish Hirschsprung patients

by Luzón-Toro, Berta, Fernández, Raquel M., Torroglosa, Ana, de Agustín, Juan Carlos, Méndez-Vidal, Cristina, Segura, Dolores Isabel, Antiñolo, Guillermo, Borrego, Salud
Published 2013

Whole-exome sequencing identifies novel compound heterozygous mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa

by Méndez-Vidal, Cristina, González-del Pozo, María, Vela-Boza, Alicia, Santoyo-López, Javier, López-Domingo, Francisco J., Vázquez-Marouschek, Carmen, Dopazo, Joaquin, Borrego, Salud, Antiñolo, Guillermo
Published 2013

Experience of Preimplantation Genetic Diagnosis with HLA Matching at the University Hospital Virgen del Rocío in Spain: Technical and Clinical Overview

by Fernández, Raquel María, Peciña, Ana, Lozano-Arana, Maria Dolores, Sánchez, Beatriz, Guardiola, Jordi, García-Lozano, Juan Carlos, Borrego, Salud, Antiñolo, Guillermo
Published 2014

Experience of Preimplantation Genetic Diagnosis for Hemophilia at the University Hospital Virgen Del Rocío in Spain: Technical and Clinical Overview

by Fernández, Raquel M., Peciña, Ana, Sánchez, Beatriz, Lozano-Arana, Maria Dolores, García-Lozano, Juan Carlos, Pérez-Garrido, Rosario, Núñez, Ramiro, Borrego, Salud, Antiñolo, Guillermo
Published 2015

Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel

by Bravo-Gil, Nereida, Méndez-Vidal, Cristina, Romero-Pérez, Laura, González-del Pozo, María, Rodríguez-de la Rúa, Enrique, Dopazo, Joaquín, Borrego, Salud, Antiñolo, Guillermo
Published 2016

Identification of different mechanisms leading to PAX6 down-regulation as potential events contributing to the onset of Hirschsprung disease

by Enguix-Riego, María Valle, Torroglosa, Ana, Fernández, Raquel María, Moya-Jiménez, María José, de Agustín, Juan Carlos, Antiñolo, Guillermo, Borrego, Salud
Published 2016

Chromosome 21 Scan in Down Syndrome Reveals DSCAM as a Predisposing Locus in Hirschsprung Disease

by Jannot, Anne-Sophie, Pelet, Anna, Henrion-Caude, Alexandra, Chaoui, Asma, Masse-Morel, Marine, Arnold, Stacey, Sanlaville, Damien, Ceccherini, Isabella, Borrego, Salud, Hofstra, Robert M. W., Munnich, Arnold, Bondurand, Nadège, Chakravarti, Aravinda, Clerget-Darpoux, Françoise, Amiel, Jeanne, Lyonnet, Stanislas
Published 2013

Four new loci associations discovered by pathway-based and network analyses of the genome-wide variability profile of Hirschsprung’s disease

by Fernández, Raquel Ma, Bleda, Marta, Núñez-Torres, Rocío, Medina, Ignacio, Luzón-Toro, Berta, García-Alonso, Luz, Torroglosa, Ana, Marbà, Martina, Enguix-Riego, Ma Valle, Montaner, David, Antiñolo, Guillermo, Dopazo, Joaquín, Borrego, Salud
Published 2012