المؤلفون: Cristina Méndez-Vidal, Nereida Bravo-Gil, Javier Pérez-Florido, Irene Marcos-Luque, Raquel M. Fernández, José Luis Fernández-Rueda, María González-del Pozo, Marta Martín-Sánchez, Elena Fernández-Suárez, Marcela Mena, Rosario Carmona, Joaquín Dopazo, Salud Borrego, Guillermo Antiñolo

المصدر: Journal of Translational Medicine, Vol 23, Iss 1, Pp 1-15 (2025)

مصطلحات موضوعية: Rare diseases, Genetic diagnosis, Next generation sequencing, Precision medicine, Research implementation, Genomic medicine, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1479-5876

URL الوصول: https://doaj.org/article/1fc059a5457b4ce1b024f0d76c9adc7c

المؤلفون: Elena Fernández-Suárez, María González-del Pozo, Cristina Méndez-Vidal, Marta Martín-Sánchez, Marcela Mena, Belén de la Morena-Barrio, Javier Corral, Salud Borrego, Guillermo Antiñolo

المصدر: Mobile DNA, Vol 15, Iss 1, Pp 1-12 (2024)

مصطلحات موضوعية: Alu insertion, CNV, EYS, Inherited retinal diseases, Long-read sequencing, Nanopore sequencing, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1759-8753

URL الوصول: https://doaj.org/article/b634fdd2b1314e2bb13d5c57ab8376dc

المؤلفون: Cristina Tous, Carmen Muñoz-Redondo, Angela Gavilán, Nereida Bravo-Gil, Fátima Baco-Antón, Elena Navarro-González, Guillermo Antiñolo, Salud Borrego

المصدر: International Journal of Molecular Sciences, Vol 25, Iss 3, p 1587 (2024)

مصطلحات موضوعية: lncRNA, papillary thyroid carcinoma, CRISPR-CAS9, linc00887, PD-L1, cancer, Biology (General), QH301-705.5, Chemistry, QD1-999

Relation: https://www.mdpi.com/1422-0067/25/3/1587; https://doaj.org/toc/1661-6596; https://doaj.org/toc/1422-0067; https://doaj.org/article/bfeda1930b7d41dc8914fd9d5cb6c742

الاتاحة: https://doi.org/10.3390/ijms25031587
https://doaj.org/article/bfeda1930b7d41dc8914fd9d5cb6c742

المؤلفون: Helena Lucena-Padros, Nereida Bravo-Gil, Cristina Tous, Elena Rojano, Pedro Seoane-Zonjic, Raquel María Fernández, Juan A. G. Ranea, Guillermo Antiñolo, Salud Borrego

المصدر: Biomolecules, Vol 14, Iss 2, p 164 (2024)

مصطلحات موضوعية: Hirschsprung’s disease, enteric neuropathy, system biology, omics expression data, networks analysis, Microbiology, QR1-502

Relation: https://www.mdpi.com/2218-273X/14/2/164; https://doaj.org/toc/2218-273X; https://doaj.org/article/c974284fbc0d468180529d8232d8d2bc

الاتاحة: https://doi.org/10.3390/biom14020164
https://doaj.org/article/c974284fbc0d468180529d8232d8d2bc

المؤلفون: Elena Fernández-Suárez, María González-del Pozo, Alejandro García-Núñez, Cristina Méndez-Vidal, Marta Martín-Sánchez, José Manuel Mejías-Carrasco, Manuel Ramos-Jiménez, María José Morillo-Sánchez, Enrique Rodríguez-de la Rúa, Salud Borrego, Guillermo Antiñolo

المصدر: Frontiers in Cell and Developmental Biology, Vol 11 (2023)

مصطلحات موضوعية: cone dystrophy, Stargardt disease, macular dystrophy, autosomal dominant, THRB, thyroid hormone resistance, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fcell.2023.1197744/full; https://doaj.org/toc/2296-634X

URL الوصول: https://doaj.org/article/57db66d951b541db8ca7fb0b46677dc5

المؤلفون: María González-del Pozo, Elena Fernández-Suárez, Nereida Bravo-Gil, Cristina Méndez-Vidal, Marta Martín-Sánchez, Enrique Rodríguez-de la Rúa, Manuel Ramos-Jiménez, María José Morillo-Sánchez, Salud Borrego, Guillermo Antiñolo

المصدر: npj Genomic Medicine, Vol 7, Iss 1, Pp 1-15 (2022)

مصطلحات موضوعية: Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2056-7944

URL الوصول: https://doaj.org/article/2e2ddbdea629409a962bb14a89a0cc7d

المؤلفون: Torroglosa, Ana, Villalba Benito, Leticia, Fernández, Raquel María, Luzón-Toro, Berta, Moya Jiménez, María José, Antiñolo, Guillermo, Salud, Borrego

المساهمون: Universidad de Sevilla. Departamento de Cirugía, Universidad de Sevilla. CTS-106: Genética Médica en Ciencias de la Salud

مصطلحات موضوعية: Gastrointestinal tract, Hirschsprung disease, Enteric nervous system, Stem cells, Neural crest cells, Enteric precursor cells, Epigenetic mechanisms, Long noncoding RNA

Relation: International Journal of Molecular Sciences, 21 (15), 1-13.; https://idus.us.es/handle//11441/151719

الاتاحة: https://idus.us.es/handle//11441/151719

المؤلفون: Cristina Tous, Carmen Muñoz-Redondo, Nereida Bravo-Gil, Angela Gavilan, Raquel María Fernández, Juan Antiñolo, Elena Navarro-González, Guillermo Antiñolo, Salud Borrego

المصدر: International Journal of Molecular Sciences; Volume 24; Issue 9; Pages: 7843

مصطلحات موضوعية: next-generation sequencing, whole exome sequencing, thyroid cancer, hereditary cancer

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Endocrinology and Metabolism; https://dx.doi.org/10.3390/ijms24097843

الاتاحة: https://doi.org/10.3390/ijms24097843

المؤلفون: Berta Luzón-Toro, Leticia Villalba-Benito, Raquel María Fernández, Ana Torroglosa, Guillermo Antiñolo, Salud Borrego

المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-7 (2021)

مصطلحات موضوعية: lncRNA, MTC, MEN2, RMST, FTX, IPW, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/1ac9788288b64ae5b60c58be3fede86e

المؤلفون: María González-del Pozo, Elena Fernández-Suárez, Marta Martín-Sánchez, Nereida Bravo-Gil, Cristina Méndez-Vidal, Enrique Rodríguez-de la Rúa, Salud Borrego, Guillermo Antiñolo

المصدر: Journal of Translational Medicine, Vol 18, Iss 1, Pp 1-12 (2020)

مصطلحات موضوعية: Retinitis Pigmentosa, Inherited retinal dystrophies, WGS, USH2A, ADGRV1, PDZD7, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1479-5876

URL الوصول: https://doaj.org/article/fd2f21bf69874880b7e39fa90a753520

المؤلفون: Antonio M. Puppo Moreno, Nereida Bravo-Gil, Cristina Méndez-Vidal, Alejandro Adsuar Gómez, F. Tadeo Gómez Ruiz, Carlos Jiménez De Juan, Raquel M. Fernández García, Rafael Martín Bermúdez, José María López Sánchez, Sara Martín Sastre, Manuel Fernández Caro, Pastora Gallego, Salud Borrego

المصدر: Revista Española de Cardiología. 76:434-443

مصطلحات موضوعية: Cardiology and Cardiovascular Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::25fd7e208e2ec237702cb220c79bb1c1
https://doi.org/10.1016/j.recesp.2022.10.004

المؤلفون: Leticia Villalba-Benito (9948389), Daniel López-López (5052965), Ana Torroglosa (209871), Carlos S. Casimiro-Soriguer (9754783), Berta Luzón-Toro (287448), Raquel María Fernández (9948392), María José Moya-Jiménez (10278830), Guillermo Antiñolo (195075), Joaquín Dopazo (1888828), Salud Borrego (9948395)

مصطلحات موضوعية: Genetics, Hirschsprung disease, Whole genome bisulfite sequencing, DNA methylation, Enteric nervous system development, Epigenetic regulation

Relation: https://figshare.com/articles/journal_contribution/Additional_file_1_of_Genome-wide_analysis_of_DNA_methylation_in_Hirschsprung_enteric_precursor_cells_unraveling_the_epigenetic_landscape_of_enteric_nervous_system_development/14189924

الاتاحة: https://doi.org/10.6084/m9.figshare.14189924.v1

المؤلفون: Leticia Villalba-Benito (9948389), Daniel López-López (5052965), Ana Torroglosa (209871), Carlos S. Casimiro-Soriguer (9754783), Berta Luzón-Toro (287448), Raquel María Fernández (9948392), María José Moya-Jiménez (10278830), Guillermo Antiñolo (195075), Joaquín Dopazo (1888828), Salud Borrego (9948395)

مصطلحات موضوعية: Genetics, Hirschsprung disease, Whole genome bisulfite sequencing, DNA methylation, Enteric nervous system development, Epigenetic regulation

Relation: https://figshare.com/articles/journal_contribution/Additional_file_3_of_Genome-wide_analysis_of_DNA_methylation_in_Hirschsprung_enteric_precursor_cells_unraveling_the_epigenetic_landscape_of_enteric_nervous_system_development/14189930

الاتاحة: https://doi.org/10.6084/m9.figshare.14189930.v1

المؤلفون: Leticia Villalba-Benito (9948389), Daniel López-López (5052965), Ana Torroglosa (209871), Carlos S. Casimiro-Soriguer (9754783), Berta Luzón-Toro (287448), Raquel María Fernández (9948392), María José Moya-Jiménez (10278830), Guillermo Antiñolo (195075), Joaquín Dopazo (1888828), Salud Borrego (9948395)

مصطلحات موضوعية: Genetics, Hirschsprung disease, Whole genome bisulfite sequencing, DNA methylation, Enteric nervous system development, Epigenetic regulation

Relation: https://figshare.com/articles/journal_contribution/Additional_file_6_of_Genome-wide_analysis_of_DNA_methylation_in_Hirschsprung_enteric_precursor_cells_unraveling_the_epigenetic_landscape_of_enteric_nervous_system_development/14189942

الاتاحة: https://doi.org/10.6084/m9.figshare.14189942.v1

المؤلفون: Tanja Mederer, Stefanie Schmitteckert, Julia Volz, Cristina Martínez, Ralph Röth, Thomas Thumberger, Volker Eckstein, Jutta Scheuerer, Cornelia Thöni, Felix Lasitschka, Leonie Carstensen, Patrick Günther, Stefan Holland-Cunz, Robert Hofstra, Erwin Brosens, Jill A Rosenfeld, Christian P Schaaf, Duco Schriemer, Isabella Ceccherini, Marta Rusmini, Joseph Tilghman, Berta Luzón-Toro, Ana Torroglosa, Salud Borrego, Clara Sze-Man Tang, Mercè Garcia-Barceló, Paul Tam, Nagarajan Paramasivam, Melanie Bewerunge-Hudler, Carolina De La Torre, Norbert Gretz, Gudrun A Rappold, Philipp Romero, Beate Niesler

المصدر: PLoS Genetics, Vol 16, Iss 11, p e1009106 (2020)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

URL الوصول: https://doaj.org/article/454318530f204fd59d5a4e5139fe2ded

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

المصدر: Scientific Reports, Vol 7, Iss 1, Pp 1-10 (2017)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2045-2322

URL الوصول: https://doaj.org/article/793aabe852e5456db9fa289db4eacdb4

المؤلفون: Marta Martín-Sánchez, Nereida Bravo-Gil, María González-del Pozo, Cristina Méndez-Vidal, Elena Fernández-Suárez, Enrique Rodríguez-de la Rúa, Salud Borrego, Guillermo Antiñolo

المصدر: International Journal of Molecular Sciences; Volume 21; Issue 24; Pages: 9355

مصطلحات موضوعية: next generation sequencing, inherited retinal dystrophies, genetic diagnosis, WDFY3, CITED1

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Genetics and Genomics; https://dx.doi.org/10.3390/ijms21249355

الاتاحة: https://doi.org/10.3390/ijms21249355

المؤلفون: Leticia Villalba-Benito, Ana Torroglosa, Berta Luzón-Toro, Raquel María Fernández, María José Moya-Jiménez, Guillermo Antiñolo, Salud Borrego

المصدر: International Journal of Molecular Sciences; Volume 21; Issue 23; Pages: 9061

مصطلحات موضوعية: Hirschsprung disease, ChIP-seq, gene expression profiling, sequence analysis, PAX6

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Pathology, Diagnostics, and Therapeutics; https://dx.doi.org/10.3390/ijms21239061

الاتاحة: https://doi.org/10.3390/ijms21239061

المؤلفون: Ana Torroglosa, Leticia Villalba-Benito, Raquel María Fernández, Berta Luzón-Toro, María José Moya-Jiménez, Guillermo Antiñolo, Salud Borrego

المصدر: International Journal of Molecular Sciences; Volume 21; Issue 15; Pages: 5534

مصطلحات موضوعية: gastrointestinal tract, Hirschsprung disease, enteric nervous system, stem cells, neural crest cells, enteric precursor cells, epigenetic mechanisms, long noncoding RNA

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Pathology, Diagnostics, and Therapeutics; https://dx.doi.org/10.3390/ijms21155534

الاتاحة: https://doi.org/10.3390/ijms21155534

المؤلفون: Mercedes Robledo, Mario Fraga, Xavier Matias-Guiu, Mario Encinas, Salud Borrego, Esmeralda Castelblanco, Lucia Inglada-Pérez, Karolina Jodkowska, María Santacana, Agustin Fernandez, Javier Perales-Paton, Cristina Montero-Conde, Veronika Mancikova

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::701bf2c285be2f2c957276e97370e824
https://doi.org/10.1158/1078-0432.22467033.v1