يعرض 1 - 10 نتائج من 68 نتيجة بحث عن '"Martín-Sánchez, Marta"', وقت الاستعلام: 1.31s تنقيح النتائج
  1. 1
    دورية أكاديمية
    Unmasking Retinitis Pigmentosa complex cases by a whole genome sequencing algorithm based on open‑access tools: hidden recessive inheritance and potential oligogenic variants

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

    المساهمون: Universidad de Sevilla. Departamento de Cirugía

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

    العلاقة: journal of Transtational Medicine, 18 (1), 73.; https://translational-medicine.biomedcentral.com/articles/10.1186/s12967-020-02258-3Test; https://idus.us.es/handle//11441/156727Test

    الإتاحة: https://idus.us.es/handle//11441/156727Test

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  2. 2
    دورية أكاديمية
    Expanding the phenotype of THRB: a range of macular dystrophies as the major clinical manifestations in patients with a dominant splicing variant

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

    المساهمون: Instituto de Salud Carlos III, Ministerio de Ciencia e Innovación (España), Junta de Andalucía, Fundación Isabel Gemio, Fundación Cajasol, European Commission

    مصطلحات موضوعية: Cone dystrophy, Stargardt disease, Macular dystrophy, Autosomal dominant, THRB, Thyroid hormone resistance, Splicing variant

    وصف الملف: application/pdf

    العلاقة: Publisher's version; Fernández-Suárez, Elena; González del Pozo, María; García-Núñez, Alejandro; Méndez-Vidal, Cristina; Martín-Sánchez, Marta; Mejías-Carrasco, José Manuel; Ramos-Jiménez, Manuel; Morillo-Sánchez, María José; Rodríguez-de-la-Rúa-Franch, Enrique; Borrego, Salud; Antiñolo, Guillermo; 2023; "Image1_Expanding the phenotype of THRB: a range of macular dystrophies as the major clinical manifestations in patients with a dominant splicing variant.PDF [Dataset]; Figshare; https://doi.org/10.3389/fcell.2023.1197744.s001Test; Fernández-Suárez, Elena; González del Pozo, María; García-Núñez, Alejandro; Méndez-Vidal, Cristina; Martín-Sánchez, Marta; Mejías-Carrasco, José Manuel; Ramos-Jiménez, Manuel; Morillo-Sánchez, María José; Rodríguez-de-la-Rúa-Franch, Enrique; Borrego, Salud; Antiñolo, Guillermo; 2023; "Table1_Expanding the phenotype of THRB: a range of macular dystrophies as the major clinical manifestations in patients with a dominant splicing variant.XLSX [Dataset]; Figshare; https://doi.org/10.3389/fcell.2023.1197744.s002Test; Fernández-Suárez, Elena; González del Pozo, María; García-Núñez, Alejandro; Méndez-Vidal, Cristina; Martín-Sánchez, Marta; Mejías-Carrasco, José Manuel; Ramos-Jiménez, Manuel; Morillo-Sánchez, María José; Rodríguez-de-la-Rúa-Franch, Enrique; Borrego, Salud; Antiñolo, Guillermo; 2023; "Table2_Expanding the phenotype of THRB: a range of macular dystrophies as the major clinical manifestations in patients with a dominant splicing variant.PDF [Dataset]; Figshare; https://doi.org/10.3389/fcell.2023.1197744.s003Test; Fernández-Suárez, Elena; González del Pozo, María; García-Núñez, Alejandro; Méndez-Vidal, Cristina; Martín-Sánchez, Marta; Mejías-Carrasco, José Manuel; Ramos-Jiménez, Manuel; Morillo-Sánchez, María José; Rodríguez-de-la-Rúa-Franch, Enrique; Borrego, Salud; Antiñolo, Guillermo; 2023; "Table3_Expanding the phenotype of THRB: a range of macular dystrophies as the major clinical manifestations in patients with a dominant splicing variant.pdf [Dataset]; Figshare; https://doi.org/10.3389/fcell.2023.1197744.s004Test; https://doi.org/10.3389/fcell.2023.1197744Test; Sí; Frontiers in Cell and Developmental Biology 11: 1197744 (2023); http://hdl.handle.net/10261/350514Test

    الإتاحة: https://doi.org/10.3389/fcell.2023.1197744Test
    https://doi.org/10.3389/fcell.2023.1197744.s001Test
    https://doi.org/10.3389/fcell.2023.1197744.s002Test
    https://doi.org/10.3389/fcell.2023.1197744.s003Test
    https://doi.org/10.3389/fcell.2023.1197744.s004Test
    http://hdl.handle.net/10261/350514Test

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  3. 3
    دورية أكاديمية
    Long-read sequencing improves the genetic diagnosis of retinitis pigmentosa by identifying an Alu retrotransposon insertion in the EYS gene.

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

    المصدر: Mobile DNA; 5/4/2024, Vol. 15 Issue 1, p1-12, 12p

    مصطلحات موضوعية: RETINITIS pigmentosa, GENETIC disorder diagnosis, DNA insertion elements, HETEROZYGOSITY, INSPECTION & review, GENES

    النص الكامل

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  4. 4
    دورية أكاديمية
    A comprehensive WGS-based pipeline for the identification of new candidate genes in inherited retinal dystrophies

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

    المساهمون: Universidad de Sevilla. Departamento de Cirugía

    مصطلحات موضوعية: WGS, Genes, Inherited retinal dystrophies

    العلاقة: NPJ GENOMIC MEDICINE, 7 (1), 1-15.; https://www.nature.com/articles/s41525-022-00286-0Test; https://idus.us.es/handle//11441/137928Test

    الإتاحة: https://idus.us.es/handle//11441/137928Test

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  5. 5
    دورية أكاديمية
    A comprehensive WGS-based pipeline for the identification of new candidate genes in inherited retinal dystrophies.

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

    وصف الملف: application/pdf

    العلاقة: http://hdl.handle.net/10668/19552Test; PMC8897414; https://www.nature.com/articles/s41525-022-00286-0.pdfTest; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8897414/pdfTest

    الإتاحة: https://doi.org/10.1038/s41525-022-00286-0Test
    http://hdl.handle.net/10668/19552Test
    https://www.nature.com/articles/s41525-022-00286-0.pdfTest
    https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8897414/pdfTest

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  6. 6
    مؤتمر
    Documentation of traditional housing in Mayangna communities. Bosawás Biosphere Reserve, Nicaragua

    المؤلفون: Cimadomo, Guido, González Meixuero, Nathalia, Jamauca, José Luis, Castaño Gil, Carlos, Martín Sánchez, Marta

    مصطلحات موضوعية: Vivienda vernácula, Arquitectura vernácula- Congresos, Vernacular dwelling, Mayangna, Heritage Documentation, North Caribbean Coast Autonomous Region, Nicaragua

    العلاقة: HERITAGE2020 (3DPast %7C RISK-Terra) International Conference; Valencia; 9-12/09/2020; Cimadomo, G., González Meixuero, N., Jamauca, J. L., Castaño Gil, C., and Martín Sánchez, M.: DOCUMENTATION OF TRADITIONAL HOUSING IN MAYANGNA COMMUNITIES. BOSAWÁS BIOSPHERE RESERVE, NICARAGUA, Int. Arch. Photogramm. Remote Sens. Spatial Inf. Sci., XLIV-M-1-2020, 203–209, https://doi.org/10.5194/isprs-archives-XLIV-M-1-2020-203-2020Test, 2020; https://hdl.handle.net/10630/19686Test

    الإتاحة: https://doi.org/10.5194/isprs-archives-XLIV-M-1-2020-203-2020Test
    https://hdl.handle.net/10630/19686Test

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  7. 7
    دورية أكاديمية
    Next-generation-based targeted sequencing as an efficient tool for the study of the genetic background in Hirschsprung patients

    المؤلفون: Luzón-Toro, Berta, Espino-Paisán, Laura, Fernández, Raquel María, Martín Sánchez, Marta, Antiñolo Gil, Guillermo, Borrego, Salud

    المساهمون: Universidad de Sevilla. Departamento de Cirugía

    مصطلحات موضوعية: Genetics, Hirschsprung disease, NGS panel, Phenotype

    العلاقة: BMC Medical Genetics, 2015 (16), art. n.89.; PI13/01560; CTS-7447; CD12/ 00712; https://bmcmedgenet.biomedcentral.com/articles/10.1186/s12881-015-0235-5Test; https://idus.us.es/handle//11441/114707Test

    الإتاحة: https://idus.us.es/handle//11441/114707Test

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  8. 8
    دورية أكاديمية
    A Multi-Strategy Sequencing Workflow in Inherited Retinal Dystrophies: Routine Diagnosis, Addressing Unsolved Cases and Candidate Genes Identification.

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

    مصطلحات موضوعية: CITED1, WDFY3, genetic diagnosis, inherited retinal dystrophies, next generation sequencing, Adaptor Proteins, Signal Transducing, Apoptosis Regulatory Proteins, Autophagy-Related Proteins, Genetic Testing, Humans, Mutation, Retinal Dystrophies, Trans-Activators, Exome Sequencing, Workflow

    وصف الملف: application/pdf

    العلاقة: http://hdl.handle.net/10668/16770Test; PMC7763277; https://www.mdpi.com/1422-0067/21/24/9355/pdf?version=1607587099Test; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7763277/pdfTest

    الإتاحة: https://doi.org/10.3390/ijms21249355Test
    http://hdl.handle.net/10668/16770Test
    https://www.mdpi.com/1422-0067/21/24/9355/pdf?version=1607587099Test
    https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7763277/pdfTest

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  9. 9
    دورية أكاديمية
    Unmasking Retinitis Pigmentosa complex cases by a whole genome sequencing algorithm based on open-access tools: hidden recessive inheritance and potential oligogenic variants.

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

    مصطلحات موضوعية: ADGRV1, Inherited retinal dystrophies, NGS, PDZD7, Retinitis Pigmentosa, USH2A, WGS, Algorithms, DNA Mutational Analysis, Humans, Mutation, Pedigree, Whole Genome Sequencing

    وصف الملف: application/pdf

    العلاقة: http://hdl.handle.net/10668/15096Test; PMC7014749; https://doi.org/10.1186/s12967-020-02258-3Test; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7014749/pdfTest

    الإتاحة: https://doi.org/10.1186/s12967-020-02258-3Test
    http://hdl.handle.net/10668/15096Test
    https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7014749/pdfTest

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  10. 10
    Table3_Expanding the phenotype of THRB: a range of macular dystrophies as the major clinical manifestations in patients with a dominant splicing variant.pdf

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

    مصطلحات موضوعية: Cone dystrophy, Stargardt disease, Macular dystrophy, Autosomal dominant, THRB, Thyroid hormone resistance, Splicing variant

    وصف الملف: application/pdf

    العلاقة: Fernández-Suárez, Elena; González del Pozo, María; García-Núñez, Alejandro; Méndez-Vidal, Cristina; Martín-Sánchez, Marta; Mejías-Carrasco, José Manuel; Ramos-Jiménez, Manuel; Morillo-Sánchez, María José; Rodríguez-de-la-Rúa-Franch, Enrique; Borrego, Salud; Antiñolo, Guillermo. Expanding the phenotype of THRB: a range of macular dystrophies as the major clinical manifestations in patients with a dominant splicing variant. https://doi.org/10.3389/fcell.2023.1197744Test. http://hdl.handle.net/10261/350514Test; https://doi.org/10.3389/fcell.2023.1197744.s004Test; Sí; Fernández-Suárez, Elena; González del Pozo, María; García-Núñez, Alejandro; Méndez-Vidal, Cristina; Martín-Sánchez, Marta; Mejías-Carrasco, José Manuel; Ramos-Jiménez, Manuel; Morillo-Sánchez, María José; Rodríguez-de-la-Rúa-Franch, Enrique; Borrego, Salud; Antiñolo, Guillermo; 2023; "Table3_Expanding the phenotype of THRB: a range of macular dystrophies as the major clinical manifestations in patients with a dominant splicing variant.pdf [Dataset]; Figshare; https://doi.org/10.3389/fcell.2023.1197744.s004Test; http://hdl.handle.net/10261/350525Test

    الإتاحة: https://doi.org/10.3389/fcell.2023.1197744.s004Test
    https://doi.org/10.3389/fcell.2023.1197744Test
    http://hdl.handle.net/10261/350525Test

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