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

по SÁNCHEZ-MEJÍAS, AVENCIA, FERNÁNDEZ, RAQUEL M., ANTIÑOLO, GUILLERMO, BORREGO, SALUD
Опубликовано 2010

G534E Variant in HABP2 and Nonmedullary Thyroid Cancer

по Ruiz-Ferrer, Macarena, Fernández, Raquel M., Navarro, Elena, Antiñolo, Guillermo, Borrego, Salud
Опубликовано в: Thyroid (2016)

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

по Fernández, Raquel M., Peciña, Ana, Muñoz‐Cabello, Beatriz, Antiñolo, Guillermo, Borrego, Salud
Опубликовано в: Clin Case Rep (2016)

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

по Fernández-Perea, Yolanda, García-Díaz, Lutgardo, Sánchez, Javier, Antiñolo, Guillermo, Borrego, Salud
Опубликовано в: Case Rep Obstet Gynecol (2017)

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

по Bravo-Gil, Nereida, Marcos, Irene, González-Meneses, Antonio, Antiñolo, Guillermo, Borrego, Salud
Опубликовано в: Medicine (Baltimore) (2019)

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

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

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

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

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

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

Epigenetic Mechanisms in Hirschsprung Disease

по Torroglosa, Ana, Villalba-Benito, Leticia, Luzón-Toro, Berta, Fernández, Raquel María, Antiñolo, Guillermo, Borrego, Salud
Опубликовано в: Int J Mol Sci (2019)

Influencers on Thyroid Cancer Onset: Molecular Genetic Basis

по Luzón-Toro, Berta, Fernández, Raquel María, Villalba-Benito, Leticia, Torroglosa, Ana, Antiñolo, Guillermo, Borrego, Salud
Опубликовано в: Genes (Basel) (2019)

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

по Luzón-Toro, Berta, Villalba-Benito, Leticia, Fernández, Raquel María, Torroglosa, Ana, Antiñolo, Guillermo, Borrego, Salud
Опубликовано в: Orphanet J Rare Dis (2021)

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

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

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

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

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

по Luzón-Toro, Berta, Espino-Paisán, Laura, Fernández, Raquel Ma., Martín-Sánchez, Marta, Antiñolo, Guillermo, Borrego, Salud
Опубликовано в: BMC Med Genet (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...

по Torroglosa, Ana, Villalba-Benito, Leticia, Fernández, Raquel María, Moya-Jiménez, María José, Antiñolo, Guillermo, Borrego, Salud
Опубликовано в: Oncotarget (2017)

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

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

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

по Sánchez-Mejías, Avencia, Watanabe, Yuli, Fernández, Raquel M., López-Alonso, Manuel, Antiñolo, Guillermo, Bondurand, Nadege, Borrego, Salud
Опубликовано 2010

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

по Fernández, Raquel M., Peciña, Ana, Lozano-Arana, Maria Dolores, García-Lozano, Juan Carlos, Borrego, Salud, Antiñolo, Guillermo
Опубликовано 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...

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

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

по Méndez-Vidal, Cristina, Bravo-Gil, Nereida, González-del Pozo, María, Vela-Boza, Alicia, Dopazo, Joaquín, Borrego, Salud, Antiñolo, Guillermo
Опубликовано в: BMC Genet (2014)