Hirschsprung disease, associated syndromes and genetics: a review von Amiel, J, Sproat-Emison, E, Garcia-Barcelo, M, Lantieri, F, Burzynski, G, Borrego, S, Pelet, A, Arnold, S, Miao, X, Griseri, P, Brooks, A S, Antinolo, G, de Pontual, L, Clement-Ziza, M, Munnich, A, Kashuk, C, West, K, Wong, K K-Y, Lyonnet, S, Chakravarti, A, Tam, P K-H, Ceccherini, I, Hofstra, R M W, Fernandez, R

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Epigenetics in ENS development and Hirschsprung disease von Torroglosa, A., Alves, M.M., Fernández, R.M., Antiñolo, G., Hofstra, R.M., Borrego, S.

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LncRNA LUCAT1 as a novel prognostic biomarker for patients with papillary thyroid cancer von Luzón-Toro, B., Fernández, R. M., Martos-Martínez, J. M., Rubio-Manzanares-Dorado, M., Antiñolo, G., Borrego, S.

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Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II von Aller, E, Jaijo, T, Beneyto, M, Nájera, C, Oltra, S, Ayuso, C, Baiget, M, Carballo, M, Antiñolo, G, Valverde, D, Moreno, F, Vilela, C, Collado, D, Pérez-Garrigues, H, Navea, A, Millán, J M

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Contribution of RET, NTRK3 and EDN3 to the expression of Hirschsprung disease in a multiplex family von Sánchez-Mejías, A, Fernández, R M, López-Alonso, M, Antiñolo, G, Borrego, S

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A Novel Point Variant in NTRK3, R645C, Suggests a Role of this Gene in the Pathogenesis of Hirschsprung Disease von Fernández, R. M., Sánchez‐Mejías, A., Mena, M. D., Ruiz‐Ferrer, M., López‐Alonso, M., Antiñolo, G., Borrego, S.

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Specific polymorphisms in the RET proto-oncogene are over-represented in patients with Hirschsprung disease and may represent loci modifying phenotypic expression von BORREGO, S, SAEZ, M. E, RUIZ, A, GIMM, O, LOPEZ-ALONSO, M, ANTINOLO, G, ENG, C

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Linkage Validation of RP25 Using the 10K GeneChip Array and Further Refinement of the Locus by New Linked Families von Barragán, I., Abd El‐Aziz, M. M., Borrego, S., El‐Ashry, M. F., O'Driscoll, C., Bhattacharya, S. S., Antiñolo, G.

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RET genotypes comprising specific haplotypes of polymorphic variants predispose to isolated Hirschsprung disease von Borrego, Salud, Ruiz, Agustín, Saez, María Eugenia, Gimm, Oliver, Gao, Xin, López-Alonso, Manuel, Hernández, Antonio, Wright, Fred A, Antiñolo, Guillermo, Eng, Charis

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Genetic Analysis of FAM46A in Spanish Families with Autosomal Recessive Retinitis Pigmentosa: Characterisation of Novel VNTRs von Barragán, I., Borrego, S., Abd El‐Aziz, M. M., El‐Ashry, M. F., Abu‐Safieh, L., Bhattacharya, S. S., Antiñolo, G.

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Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation von Bernal, S, Ayuso, C, Antiñolo, G, Gimenez, A, Borrego, S, Trujillo, M J, Marcos, I, Calaf, M, Del Rio, E, Baiget, M

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A Novel Genetic Study of Chinese Families with Autosomal Recessive Retinitis Pigmentosa von Abd El‐Aziz, M. M., El‐Ashry, M. F., Chan, W. M., Chong, K. L., Barragan, I., Antiñolo, G., Pang, C. P., Bhattacharya, S. S.

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Germline sequence variant S836S in the RET proto-oncogene is associated with low level predisposition to sporadic medullary thyroid carcinoma in the Spanish population von Ruiz, Agustín, Antiñolo, Guillermo, Fernández, Raquel M., Eng, Charis, Marcos, Irene, Borrego, Salud

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Ancestral RET haplotype associated with Hirschsprung’s disease shows linkage disequilibrium breakpoint at −1249 von Fernandez, R M, Boru, G, Peciña, A, Jones, K, López-Alonso, M, Antiñolo, G, Borrego, S, Eng, C

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Evaluation of the role of RET polymorphisms/haplotypes as modifier loci for MEN 2, and analysis of the correlation with the type of RET mutation in a series of Spanish patients von Fernández, Raquel, Navarro, Elena, Antiñolo, Guillermo, Ruiz-Ferrer, Macarena, Borrego, Salud

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Analysis of CCR5-Delta 32 and CCR2-V64I polymorphisms in a cohort of Spanish HCV patients using real-time polymerase chain reaction and fluorescence resonance energy transfer techn... von Ruiz-Ferrer, M, Barroso, N, Antiñolo, G, Aguilar-Reina, J

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A study to assess global availability of fetal surgery for myelomeningocele von Sacco, Adalina, Simpson, Lynn, Deprest, Jan, David, Anna L.

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Analysis of the −844C > T polymorphism in the promoter region of FASL gene in a cohort of Spanish HCV patients von Ruiz‐Ferrer, M., Antiñolo, G., Aguilar‐Reina, J.

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Investigation of germline GFRA4 mutations and evaluation of the involvement of GFRA1, GFRA2, GFRA3, and GFRA4 sequence variants in Hirschsprung disease von Borrego, S, Fernández, R M, Dziema, H, Niess, A, López-Alonso, M, Antiñolo, G, Eng, C

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Intrauterine myelomeningocele repair: experience of the fetal medicine and therapy program of the Virgen de Rocío University Hospital von Marenco, M L, Márquez, J, Ontanilla, A, García-Díaz, L, Rivero, M, Losada, A, Torrejón, R, Sainz, J A, Antiñolo, G

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