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

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

Ultrasound, Echocardiography, MRI, and Genetic Analysis of a Fetus with Congenital Diaphragmatic Hernia and Partial 11q Trisomy

por Fernández-Perea, Yolanda, García-Díaz, Lutgardo, Sánchez, Javier, Antiñolo, Guillermo, Borrego, Salud
Publicado 2017

Expanding the clinical and mutational spectrum of germline ABL1 mutations-associated syndrome: A case report

por Bravo-Gil, Nereida, Marcos, Irene, González-Meneses, Antonio, Antiñolo, Guillermo, Borrego, Salud
Publicado 2019

A novel study of Copy Number Variations in Hirschsprung disease using the Multiple Ligation-dependent Probe Amplification (MLPA) technique

por Núñez-Torres, Rocío, Fernández, Raquel M, López-Alonso, Manuel, Antiñolo, Guillermo, Borrego, Salud
Publicado 2009

Novel MLPA procedure using self-designed probes allows comprehensive analysis for CNVs of the genes involved in Hirschsprung disease

por Sánchez-Mejías, Avencia, Núñez-Torres, Rocio, Fernández, Raquel M, Antiñolo, Guillermo, Borrego, Salud
Publicado 2010

Novel association of severe neonatal encephalopathy and Hirschsprung disease in a male with a duplication at the Xq28 region

por Fernández, Raquel M, Núñez-Torres, Rocío, González-Meneses, Antonio, Antiñolo, Guillermo, Borrego, Salud
Publicado 2010

Epigenetic Mechanisms in Hirschsprung Disease

por Torroglosa, Ana, Villalba-Benito, Leticia, Luzón-Toro, Berta, Fernández, Raquel María, Antiñolo, Guillermo, Borrego, Salud
Publicado 2019

Influencers on Thyroid Cancer Onset: Molecular Genetic Basis

por Luzón-Toro, Berta, Fernández, Raquel María, Villalba-Benito, Leticia, Torroglosa, Ana, Antiñolo, Guillermo, Borrego, Salud
Publicado 2019

RMRP, RMST, FTX and IPW: novel potential long non-coding RNAs in medullary thyroid cancer

por Luzón-Toro, Berta, Villalba-Benito, Leticia, Fernández, Raquel María, Torroglosa, Ana, Antiñolo, Guillermo, Borrego, Salud
Publicado 2021

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

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

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

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

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

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

Dnmt3b knock-down in enteric precursors reveals a possible mechanism by which this de novo methyltransferase is involved in the enteric nervous system development and the onset of...

por Torroglosa, Ana, Villalba-Benito, Leticia, Fernández, Raquel María, Moya-Jiménez, María José, Antiñolo, Guillermo, Borrego, Salud
Publicado 2017

New mutations in BBS genes in small consanguineous families with Bardet-Biedl syndrome: Detection of candidate regions by homozygosity mapping

por Pereiro, Ines, Valverde, Diana, Piñeiro-Gallego, Teresa, Baiget, Montserrat, Borrego, Salud, Ayuso, Carmen, Searby, Charles, Nishimura, Darryl
Publicado 2010

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

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

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

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

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

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

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

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

Overexpression of DNMT3b target genes during Enteric Nervous System development contribute to the onset of Hirschsprung disease

por Villalba-Benito, Leticia, Torroglosa, Ana, Fernández, Raquel María, Ruíz-Ferrer, Macarena, Moya-Jiménez, María José, Antiñolo, Guillermo, Borrego, Salud
Publicado 2017

Preimplantation Genetic Diagnosis for Myotonic Dystrophy Type 1 and Analysis of the Effect of the Disease on the Reproductive Outcome of the Affected Female Patients

por Fernández, Raquel María, Lozano-Arana, María Dolores, Sánchez, Beatriz, Peciña, Ana, García-Lozano, Juan Carlos, Borrego, Salud, Antiñolo, Guillermo
Publicado 2017