يعرض 1 - 20 نتائج من 248 نتيجة بحث عن '"Salud Borrego"', وقت الاستعلام: 0.95s تنقيح النتائج
  1. 1
    Academic Journal
    A genomic strategy for precision medicine in rare diseases: integrating customized algorithms into clinical practice

    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

    View record in DOAJ Full Text Finder

    أضف إلى المفضلة
  2. 2
    Academic Journal
    Long-read sequencing improves the genetic diagnosis of retinitis pigmentosa by identifying an Alu retrotransposon insertion in the EYS gene

    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

    View record in DOAJ Full Text Finder

    أضف إلى المفضلة
  3. 3
    Academic Journal
    Expanding the phenotype of THRB: a range of macular dystrophies as the major clinical manifestations in patients with a dominant splicing variant

    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

    View record in DOAJ Full Text Finder

    أضف إلى المفضلة
  4. 4
    Academic Journal
    Bioinformatics Prediction for Network-Based Integrative Multi-Omics Expression Data Analysis in Hirschsprung Disease

    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

    وصف الملف: electronic resource

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

    URL الوصول: https://doaj.org/article/c974284fbc0d468180529d8232d8d2bc

    View record in DOAJ Full Text Finder

    أضف إلى المفضلة
  5. 5
    Academic Journal
    A comprehensive WGS-based pipeline for the identification of new candidate genes in inherited retinal dystrophies

    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

    View record in DOAJ Full Text Finder

    أضف إلى المفضلة
  6. 6
    Academic Journal
    RMRP, RMST, FTX and IPW: novel potential long non-coding RNAs in medullary thyroid cancer

    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

    View record in DOAJ Full Text Finder

    أضف إلى المفضلة
  7. 7
    Academic Journal
    Unmasking Retinitis Pigmentosa complex cases by a whole genome sequencing algorithm based on open-access tools: hidden recessive inheritance and potential oligogenic variants

    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

    View record in DOAJ Full Text Finder

    أضف إلى المفضلة
  8. 8
    Academic Journal
    A complementary study approach unravels novel players in the pathoetiology of Hirschsprung disease.

    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

    View record in DOAJ Full Text Finder

    أضف إلى المفضلة
  9. 9
    Academic Journal
    Overexpression of DNMT3b target genes during Enteric Nervous System development contribute to the onset of Hirschsprung disease

    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

    View record in DOAJ Full Text Finder

    أضف إلى المفضلة
  10. 10
    Academic Journal
    Ultrasound, Echocardiography, MRI, and Genetic Analysis of a Fetus with Congenital Diaphragmatic Hernia and Partial 11q Trisomy

    المؤلفون: Yolanda Fernández-Perea, Lutgardo García-Díaz, Javier Sánchez, Guillermo Antiñolo, Salud Borrego

    المصدر: Case Reports in Obstetrics and Gynecology, Vol 2017 (2017)

    مصطلحات موضوعية: Gynecology and obstetrics, RG1-991

    وصف الملف: electronic resource

    Relation: https://doaj.org/toc/2090-6684; https://doaj.org/toc/2090-6692

    URL الوصول: https://doaj.org/article/ef440eb31f6549b0a4fe4c654f7d87c0

    View record in DOAJ Full Text Finder

    أضف إلى المفضلة
  11. 11
    Academic Journal
    Exome sequencing reveals novel and recurrent mutations with clinical significance in inherited retinal dystrophies.

    المؤلفون: María González-del Pozo, Cristina Méndez-Vidal, Nereida Bravo-Gil, Alicia Vela-Boza, Joaquin Dopazo, Salud Borrego, Guillermo Antiñolo

    المصدر: PLoS ONE, Vol 9, Iss 12, p e116176 (2014)

    مصطلحات موضوعية: Medicine, Science

    وصف الملف: electronic resource

    Relation: http://europepmc.org/articles/PMC4278866?pdf=render; https://doaj.org/toc/1932-6203

    URL الوصول: https://doaj.org/article/326e78cc72d54add9da2f2bb15cfb5cf

    View record in DOAJ Full Text Finder

    أضف إلى المفضلة
  12. 12
    Academic Journal
    Atypical Association of Angelman Syndrome and Klinefelter Syndrome in a Boy with 47,XXY Karyotype and Deletion 15q11.2-q13

    المؤلفون: Javier Sánchez, Ana Peciña, Olga Alonso-Luengo, Antonio González-Meneses, Rocío Vázquez, Guillermo Antiñolo, Salud Borrego

    المصدر: Case Reports in Genetics, Vol 2014 (2014)

    مصطلحات موضوعية: Genetics, QH426-470

    وصف الملف: electronic resource

    Relation: https://doaj.org/toc/2090-6544; https://doaj.org/toc/2090-6552

    URL الوصول: https://doaj.org/article/cef7df391f38426a93c1e3c00295748b

    View record in DOAJ Full Text Finder

    أضف إلى المفضلة
  13. 13
    Academic Journal
    Mutational spectrum of semaphorin 3A and semaphorin 3D genes in Spanish Hirschsprung patients.

    المؤلفون: Berta Luzón-Toro, Raquel M Fernández, Ana Torroglosa, Juan Carlos de Agustín, Cristina Méndez-Vidal, Dolores Isabel Segura, Guillermo Antiñolo, Salud Borrego

    المصدر: PLoS ONE, Vol 8, Iss 1, p e54800 (2013)

    مصطلحات موضوعية: Medicine, Science

    وصف الملف: electronic resource

    Relation: http://europepmc.org/articles/PMC3553056?pdf=render; https://doaj.org/toc/1932-6203

    URL الوصول: https://doaj.org/article/3fe93145c2b243b3b895410317265737

    View record in DOAJ Full Text Finder

    أضف إلى المفضلة
  14. 14
    Academic Journal
    Chromosome 21 scan in Down syndrome reveals DSCAM as a predisposing locus in Hirschsprung disease.

    المؤلفون: Anne-Sophie Jannot, Anna Pelet, Alexandra Henrion-Caude, Asma Chaoui, Marine Masse-Morel, Stacey Arnold, Damien Sanlaville, Isabella Ceccherini, Salud Borrego, Robert M W Hofstra, Arnold Munnich, Nadège Bondurand, Aravinda Chakravarti, Françoise Clerget-Darpoux, Jeanne Amiel, Stanislas Lyonnet

    المصدر: PLoS ONE, Vol 8, Iss 5, p e62519 (2013)

    مصطلحات موضوعية: Medicine, Science

    وصف الملف: electronic resource

    Relation: https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/23671607/?tool=EBI; https://doaj.org/toc/1932-6203

    URL الوصول: https://doaj.org/article/be655f622d9a471dba04553323858f20

    View record in DOAJ Full Text Finder

    أضف إلى المفضلة
  15. 15
    Academic Journal
    Contributions of PHOX2B in the pathogenesis of Hirschsprung disease.

    المؤلفون: Raquel María Fernández, Yves Mathieu, Berta Luzón-Toro, Rocío Núñez-Torres, Antonio González-Meneses, Guillermo Antiñolo, Jeanne Amiel, Salud Borrego

    المصدر: PLoS ONE, Vol 8, Iss 1, p e54043 (2013)

    مصطلحات موضوعية: Medicine, Science

    وصف الملف: electronic resource

    Relation: http://europepmc.org/articles/PMC3544660?pdf=render; https://doaj.org/toc/1932-6203

    URL الوصول: https://doaj.org/article/57fa4cbc69e3434b89f68c1eb04658d8

    View record in DOAJ Full Text Finder

    أضف إلى المفضلة
  16. 16
    Academic Journal
    Comprehensive analysis of NRG1 common and rare variants in Hirschsprung patients.

    المؤلفون: Berta Luzón-Toro, Ana Torroglosa, Rocío Núñez-Torres, María Valle Enguix-Riego, Raquel María Fernández, Juan Carlos de Agustín, Guillermo Antiñolo, Salud Borrego

    المصدر: PLoS ONE, Vol 7, Iss 5, p e36524 (2012)

    مصطلحات موضوعية: Medicine, Science

    وصف الملف: electronic resource

    Relation: https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/22574178/pdf/?tool=EBI; https://doaj.org/toc/1932-6203

    URL الوصول: https://doaj.org/article/c478cb8d57554781a6f0e80ca5d2d016

    View record in DOAJ Full Text Finder

    أضف إلى المفضلة
  17. 17
    Academic Journal
    Mutation screening of multiple genes in Spanish patients with autosomal recessive retinitis pigmentosa by targeted resequencing.

    المؤلفون: María González-del Pozo, Salud Borrego, Isabel Barragán, Juan I Pieras, Javier Santoyo, Nerea Matamala, Belén Naranjo, Joaquín Dopazo, Guillermo Antiñolo

    المصدر: PLoS ONE, Vol 6, Iss 12, p e27894 (2011)

    مصطلحات موضوعية: Medicine, Science

    وصف الملف: electronic resource

    Relation: http://europepmc.org/articles/PMC3229495?pdf=render; https://doaj.org/toc/1932-6203

    URL الوصول: https://doaj.org/article/c91046f254ad4efbb5675905ca79a61d

    View record in DOAJ Full Text Finder

    أضف إلى المفضلة
  18. 18
    Academic Journal
    Expression of PROKR1 and PROKR2 in human enteric neural precursor cells and identification of sequence variants suggest a role in HSCR.

    المؤلفون: Macarena Ruiz-Ferrer, Ana Torroglosa, Rocío Núñez-Torres, Juan Carlos de Agustín, Guillermo Antiñolo, Salud Borrego

    المصدر: PLoS ONE, Vol 6, Iss 8, p e23475 (2011)

    مصطلحات موضوعية: Medicine, Science

    وصف الملف: electronic resource

    Relation: http://europepmc.org/articles/PMC3155560?pdf=render; https://doaj.org/toc/1932-6203

    URL الوصول: https://doaj.org/article/3d86e7425eff4a2f8f3f0d4528ac4200

    View record in DOAJ Full Text Finder

    أضف إلى المفضلة
  19. 19
    Academic Journal
    Delving into the Role of lncRNAs in Papillary Thyroid Cancer: Upregulation of LINC00887 Promotes Cell Proliferation, Growth and Invasion

    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

    View record in BASE Full Text Finder

    أضف إلى المفضلة
  20. 20
    Academic Journal
    Identification of New Potential LncRNA Biomarkers in Hirschsprung Disease

    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

    View record in BASE

    أضف إلى المفضلة
أدوات البحث: أحصل على تغذية RSS – أرسل هذا البحث بالبريد الإلكتروني – حفظ البحث – جدول التنبيهات: لا شيء