A new experimental approach is required in the molecular analysis of intestinal neuronal dysplasia type B patients

Por SÁNCHEZ-MEJÍAS, AVENCIA, FERNÁNDEZ, RAQUEL M., ANTIÑOLO, GUILLERMO, BORREGO, SALUD
Publicado em 2010

G534E Variant in HABP2 and Nonmedullary Thyroid Cancer

Por Ruiz-Ferrer, Macarena, Fernández, Raquel M., Navarro, Elena, Antiñolo, Guillermo, Borrego, Salud
Publicado no Thyroid (2016)

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 no Clin Case Rep (2016)

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 em 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 em 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 em 2010

Involvement of SOX10 in the pathogenesis of Hirschsprung disease: report of a truncating mutation in an isolated patient

Por Sánchez-Mejías, Avencia, Watanabe, Yuli, Fernández, Raquel M., López-Alonso, Manuel, Antiñolo, Guillermo, Bondurand, Nadege, Borrego, Salud
Publicado em 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 em 2013

A Founding Locus within the RET Proto-Oncogene May Account for a Large Proportion of Apparently Sporadic Hirschsprung Disease and a Subset of Cases of Sporadic Medullary Thyroid Ca...

Por Borrego, Salud, Wright, Fred A., Fernández, Raquel M., Williams, Nita, López-Alonso, Manuel, Davuluri, Ramana, Antiñolo, Guillermo, Eng, Charis
Publicado em 2003

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 no Biomed Res Int (2015)

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

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

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

Por Fernández, Raquel M., Peciña, Ana, Sánchez, Beatriz, Lozano-Arana, Maria Dolores, García-Lozano, Juan Carlos, Pérez-Garrido, Rosario, Núñez, Ramiro, Borrego, Salud, Antiñolo, Guillermo
Publicado no Biomed Res Int (2015)

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

Por 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
Publicado em 2011

Identification of epistatic interactions through genome-wide association studies in sporadic medullary and juvenile papillary thyroid carcinomas

Por Luzón-Toro, Berta, Bleda, Marta, Navarro, Elena, García-Alonso, Luz, Ruiz-Ferrer, Macarena, Medina, Ignacio, Martín-Sánchez, Marta, Gonzalez, Cristina Y., Fernández, Raquel M., Torroglosa, Ana, Antiñolo, Guillermo, Dopazo, Joaquin, Borrego, Salud
Publicado no BMC Med Genomics (2015)

Pathways systematically associated to Hirschsprung’s disease

Por Fernández, Raquel M, Bleda, Marta, Luzón-Toro, Berta, García-Alonso, Luz, Arnold, Stacey, Sribudiani, Yunia, Besmond, Claude, Lantieri, Francesca, Doan, Betty, Ceccherini, Isabella, Lyonnet, Stanislas, Hofstra, Robert MW, Chakravarti, Aravinda, Antiñolo, Guillermo, Dopazo, Joaquín, Borrego, Salud
Publicado em 2013

Male and female differential reproductive rate could explain parental transmission asymmetry of mutation origin in Hirschsprung disease

Por Jannot, Anne-Sophie, Amiel, Jeanne, Pelet, Anna, Lantieri, Francesca, Fernandez, Raquel M, Verheij, Joke B G M, Garcia-Barcelo, Merce, Arnold, Stacey, Ceccherini, Isabella, Borrego, Salud, Hofstra, Robert M W, Tam, Paul K H, Munnich, Arnold, Chakravarti, Aravinda, Clerget-Darpoux, Françoise, Lyonnet, Stanislas
Publicado em 2012

Exome sequencing reveals a high genetic heterogeneity on familial Hirschsprung disease

Por Luzón-Toro, Berta, Gui, Hongsheng, Ruiz-Ferrer, Macarena, Sze-Man Tang, Clara, Fernández, Raquel M., Sham, Pak-Chung, Torroglosa, Ana, Kwong-Hang Tam, Paul, Espino-Paisán, Laura, Cherny, Stacey S., Bleda, Marta, Enguix-Riego, María del Valle, Dopazo, Joaquín, Antiñolo, Guillermo, García-Barceló, María-Mercé, Borrego, Salud
Publicado no Sci Rep (2015)

Functional Loss of Semaphorin 3C and/or Semaphorin 3D and Their Epistatic Interaction with Ret Are Critical to Hirschsprung Disease Liability

Por Jiang, Qian, Arnold, Stacey, Heanue, Tiffany, Kilambi, Krishna Praneeth, Doan, Betty, Kapoor, Ashish, Ling, Albee Yun, Sosa, Maria X., Guy, Moltu, Jiang, Qingguang, Burzynski, Grzegorz, West, Kristen, Bessling, Seneca, Griseri, Paola, Amiel, Jeanne, Fernandez, Raquel M., Verheij, Joke B.G.M., Hofstra, Robert M.W., Borrego, Salud, Lyonnet, Stanislas, Ceccherini, Isabella, Gray, Jeffrey J., Pachnis, Vassilis, McCallion, Andrew S., Chakravarti, Aravinda
Publicado no Am J Hum Genet (2015)

Differential Contributions of Rare and Common, Coding and Noncoding Ret Mutations to Multifactorial Hirschsprung Disease Liability

Por Emison, Eileen Sproat, Garcia-Barcelo, Merce, Grice, Elizabeth A., Lantieri, Francesca, Amiel, Jeanne, Burzynski, Grzegorz, Fernandez, Raquel M., Hao, Li, Kashuk, Carl, West, Kristen, Miao, Xiaoping, Tam, Paul K.H., Griseri, Paola, Ceccherini, Isabella, Pelet, Anna, Jannot, Anne-Sophie, de Pontual, Loic, Henrion-Caude, Alexandra, Lyonnet, Stanislas, Verheij, Joke B.G.M., Hofstra, Robert M.W., Antiñolo, Guillermo, Borrego, Salud, McCallion, Andrew S., Chakravarti, Aravinda
Publicado em 2010