Epigenetics in ENS development and Hirschsprung disease
Torroglosa, A., Alves, M.M., Fernández, R.M., Antiñolo, G., Hofstra, R.M., Borrego, S.
Published in Developmental biology (15.09.2016)
Published in Developmental biology (15.09.2016)
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Mutation profile of the MYO7A gene in Spanish patients with Usher syndrome type I
Jaijo, T., Aller, E., Oltra, S., Beneyto, M., Nájera, C., Ayuso, C., Baiget, M., Carballo, M., Antiñolo, G., Valverde, D., Moreno, F., Vilela, C., Perez-Garrigues, H., Navea, A., Millán, J.M.
Published in Human mutation (01.03.2006)
Published in Human mutation (01.03.2006)
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Hirschsprung disease, associated syndromes and genetics: a review
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
Published in Journal of Medical Genetics (01.01.2008)
Published in Journal of Medical Genetics (01.01.2008)
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Journal Article
Book Review
Analysis of the −844C > T polymorphism in the promoter region of FASLgene in a cohort of Spanish HCV patients
Ruiz-Ferrer, M., Antiñolo, G., Aguilar-Reina, J.
Published in Journal of viral hepatitis (01.04.2007)
Published in Journal of viral hepatitis (01.04.2007)
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Atypical fundoscopic manifestation with good visual prognosis in familial hypomagnesemia with hypercalciuria and nephrocalcinosis
Girón-Ortega, M, Morillo Sánchez, M J, Soto-Sierra, M, Mena, M, Antinolo, G, Ramos-Jiménez, M, López-Domínguez, M, Rodríguez-de-la-Rúa, E
Published in Ophthalmic genetics (29.08.2024)
Published in Ophthalmic genetics (29.08.2024)
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Mutations P51U and G122E in retinal transcription factor NRL associated with autosomal dominant and sporadic retinitis pigmentosa
Martinez-Gimeno, María, Maseras, Miquel, Baiget, Montserrat, Beneito, Magdalena, Antiñolo, Gillermo, Ayuso, Carmen, Carballo, Miguel
Published in Human mutation (01.06.2001)
Published in Human mutation (01.06.2001)
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Polymorphisms in the promoter regions of FAS and FASL genes as candidate genetic factors conferring susceptibility to endometriosis
Fernández, R M, Noval, J A, García-Lozano, J C, Borrego, S, Moliní, J L, Antiñolo, G
Published in International journal of molecular medicine (01.05.2005)
Published in International journal of molecular medicine (01.05.2005)
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Journal Article
Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II
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
Published in Journal of medical genetics (01.11.2006)
Published in Journal of medical genetics (01.11.2006)
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Journal Article
Contribution of RET, NTRK3 and EDN3 to the expression of Hirschsprung disease in a multiplex family
Sánchez-Mejías, A, Fernández, R M, López-Alonso, M, Antiñolo, G, Borrego, S
Published in Journal of medical genetics (01.12.2009)
Published in Journal of medical genetics (01.12.2009)
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Prognostic factors of a first cycle of IVF with respect to the result of second cycle of IVF in women with primary infertility and younger than 40 years. study on 1187 women
García Lozano, J.C, Borrero Delgado, A, Lozano Arana, M.D, Sánchez Andujar, B, Antiñolo Gil, G
Published in Fertility and sterility (01.09.2013)
Published in Fertility and sterility (01.09.2013)
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Journal Article
Mutation analysis of GABRR1 andGABRR2 in autosomal recessive retinitis pigmentosa (RP25)
MARCOS, I, RUIZ, A, BLASCHAK, C J, BORREGO, S, CUTTING, G R, ANTIÑOLO, G
Published in Journal of medical genetics (01.06.2000)
Published in Journal of medical genetics (01.06.2000)
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A Novel Point Variant in NTRK3, R645C, Suggests a Role of this Gene in the Pathogenesis of Hirschsprung Disease
Fernández, R. M., Sánchez‐Mejías, A., Mena, M. D., Ruiz‐Ferrer, M., López‐Alonso, M., Antiñolo, G., Borrego, S.
Published in Annals of human genetics (01.01.2009)
Published in Annals of human genetics (01.01.2009)
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Journal Article
Specific polymorphisms in the RET proto-oncogene are over-represented in patients with Hirschsprung disease and may represent loci modifying phenotypic expression
BORREGO, S, SAEZ, M. E, RUIZ, A, GIMM, O, LOPEZ-ALONSO, M, ANTINOLO, G, ENG, C
Published in Journal of medical genetics (01.10.1999)
Published in Journal of medical genetics (01.10.1999)
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Linkage Validation of RP25 Using the 10K GeneChip Array and Further Refinement of the Locus by New Linked Families
Barragán, I., Abd El‐Aziz, M. M., Borrego, S., El‐Ashry, M. F., O'Driscoll, C., Bhattacharya, S. S., Antiñolo, G.
Published in Annals of human genetics (01.07.2008)
Published in Annals of human genetics (01.07.2008)
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