يعرض 1 - 10 نتائج من 10 نتيجة بحث عن '"Lidia González-Quereda"', وقت الاستعلام: 0.72s تنقيح النتائج
  1. 1
    دورية أكاديمية
    Next-generation sequencing reveals a new mutation in the LTBP2 gene associated with microspherophakia in a Spanish family

    المؤلفون: Laura Alías, Jaume Crespi, Lidia González-Quereda, Jesús Téllez, Elisabeth Martínez, Sara Bernal, Ma Pia Gallano

    المصدر: BMC Medical Genetics, Vol 19, Iss 1, Pp 1-8 (2018)

    مصطلحات موضوعية: Microspherophakia, LTBP2 gene, NGS, Clinical exome sequencing, TruSight one sequencing panel, Internal medicine, RC31-1245, Genetics, QH426-470

    وصف الملف: electronic resource

    العلاقة: http://link.springer.com/article/10.1186/s12881-018-0590-0Test; https://doaj.org/toc/1471-2350Test

    الوصول الحر: https://doaj.org/article/0ba1061a7f2143d599f17183535b4dd9Test

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  2. 2
    دورية أكاديمية
    Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes.

    المؤلفون: Jonàs Juan-Mateu, Lidia González-Quereda, Maria José Rodríguez, Edgard Verdura, Kira Lázaro, Cristina Jou, Andrés Nascimento, Cecilia Jiménez-Mallebrera, Jaume Colomer, Soledad Monges, Fabiana Lubieniecki, Maria Eugenia Foncuberta, Samuel Ignacio Pascual-Pascual, Jesús Molano, Montserrat Baiget, Pia Gallano

    المصدر: PLoS ONE, Vol 8, Iss 3, p e59916 (2013)

    مصطلحات موضوعية: Medicine, Science

    وصف الملف: electronic resource

    العلاقة: http://europepmc.org/articles/PMC3607557?pdf=renderTest; https://doaj.org/toc/1932-6203Test

    الوصول الحر: https://doaj.org/article/01f25a8e27ed4e2ab08cfcd4aa96e734Test

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  3. 3
    دورية أكاديمية
    Case report: De novo pathogenic variant in WFS1 causes Wolfram-like syndrome debuting with congenital bilateral deafness

    المؤلفون: Laura Alías, Miguel López de Heredia, Sabina Luna, Núria Clivillé, Lídia González-Quereda, Pía Gallano, Júlia de Juan, Albert Pujol, Santiago Diez, Susana Boronat, César Orús, Adriana Lasa, María del Prado Venegas

    المصدر: Frontiers in Genetics, Vol 13 (2022)

    مصطلحات موضوعية: WFS1 gene, congenital hearing loss, NGS, Wolfram-like syndrome, optic atrophy, Genetics, QH426-470

    العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2022.998898/fullTest; https://doaj.org/toc/1664-8021Test; https://doaj.org/article/07967e7b974044478f2e4457b6a25004Test

    الإتاحة: https://doi.org/10.3389/fgene.2022.998898Test
    https://doaj.org/article/07967e7b974044478f2e4457b6a25004Test

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  4. 4
    دورية أكاديمية
    Special Issue “Genetic Advances in Neuromuscular Disorders: From Gene Identification to Gene Therapy”

    المؤلفون: Virginia Arechavala-Gomeza, Lidia Gonzalez-Quereda

    المصدر: Genes; Volume 12; Issue 2; Pages: 242

    مصطلحات موضوعية: n/a

    جغرافية الموضوع: agris

    وصف الملف: application/pdf

    العلاقة: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes12020242Test

    الإتاحة: https://doi.org/10.3390/genes12020242Test

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  5. 5
    دورية أكاديمية
    Novel Somatic Genetic Variants as Predictors of Resistance to EGFR-Targeted Therapies in Metastatic Colorectal Cancer Patients

    المؤلفون: Pau Riera, Benjamín Rodríguez-Santiago, Adriana Lasa, Lidia Gonzalez-Quereda, Berta Martín, Juliana Salazar, Ana Sebio, Anna C. Virgili, Jordi Minguillón, Cristina Camps, Jordi Surrallés, David Páez

    المصدر: Cancers; Volume 12; Issue 8; Pages: 2245

    مصطلحات موضوعية: genetic variants, predictive biomarkers, anti-EGFR monoclonal antibodies, colorectal cancer, case-control study

    وصف الملف: application/pdf

    العلاقة: Cancer Biomarkers; https://dx.doi.org/10.3390/cancers12082245Test

    الإتاحة: https://doi.org/10.3390/cancers12082245Test

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  6. 6
    دورية أكاديمية
    Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain

    المؤلفون: Lidia Gonzalez-Quereda, Maria Jose Rodriguez, Jordi Diaz-Manera, Jorge Alonso-Perez, Eduard Gallardo, Andres Nascimento, Carlos Ortez, Daniel Natera-de Benito, Montse Olive, Laura Gonzalez-Mera, Adolfo Lopez de Munain, Miren Zulaica, Juan Jose Poza, Ivonne Jerico, Laura Torne, Pau Riera, Jose Milisenda, Aurora Sanchez, Gloria Garrabou, Isabel Llano, Marcos Madruga-Garrido, Pia Gallano

    المصدر: Genes; Volume 11; Issue 5; Pages: 539

    مصطلحات موضوعية: neuromuscular diseases, congenital myopathies, muscular dystrophies, congenital myasthenic syndromes, targeted next-generation sequencing

    جغرافية الموضوع: agris

    وصف الملف: application/pdf

    العلاقة: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes11050539Test

    الإتاحة: https://doi.org/10.3390/genes11050539Test

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  7. 7
    Clinical and genetic features of a large homogeneous cohort of oculopharyngeal muscular dystrophy patients from the Canary Islands

    المؤلفون: Jorge Alonso‐Pérez, Juan Carlos de León Hernández, Helena Pérez‐Pérez, María Dolores Mendoza‐Grimón, Antonio José Gutierrez‐Martinez, Ioanna Hadjigeorgiou, Fernando Montón‐Álvarez, Lidia González‐Quereda, Alicia Alonso‐Jimenez, Xavier Suárez‐Calvet, Jordi Díaz‐Manera

    المصدر: European journal of neurology
    EUROPEAN JOURNAL OF NEUROLOGY
    r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
    instname

    مصطلحات موضوعية: Muscle Weakness, registries, cohort, Middle Aged, Poly(A)-Binding Protein I, Cohort Studies, Neurology, Muscular Dystrophy, Oculopharyngeal, Spain, muscle dystrophies, OPMD, founder mutation, Humans, Neurology (clinical), Human medicine, Deglutition Disorders

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a65c6d5211a0ba5644a8e59dd67d1a44Test
    https://hdl.handle.net/10067/1865280151162165141Test


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  8. 8
    Table1_Case report: De novo pathogenic variant in WFS1 causes Wolfram-like syndrome debuting with congenital bilateral deafness.DOCX

    المؤلفون: Laura Alías, Miguel López de Heredia, Sabina Luna, Núria Clivillé, Lídia González-Quereda, Pía Gallano, Júlia de Juan, Albert Pujol, Santiago Diez, Susana Boronat, César Orús, Adriana Lasa, María del Prado Venegas

    مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, WFS1 gene, congenital hearing loss, NGS, Wolfram-like syndrome, optic atrophy

    العلاقة: https://figshare.com/articles/dataset/Table1_Case_report_De_novo_pathogenic_variant_in_WFS1_causes_Wolfram-like_syndrome_debuting_with_congenital_bilateral_deafness_DOCX/21352686Test

    الإتاحة: https://doi.org/10.3389/fgene.2022.998898.s001Test
    https://figshare.com/articles/dataset/Table1_Case_report_De_novo_pathogenic_variant_in_WFS1_causes_Wolfram-like_syndrome_debuting_with_congenital_bilateral_deafness_DOCX/21352686Test

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  9. 9
    دورية أكاديمية
    DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype Correlations.

    المؤلفون: Jonas Juan-Mateu, Lidia Gonzalez-Quereda, Maria Jose Rodriguez, Manel Baena, Edgard Verdura, Andres Nascimento, Carlos Ortez, Montserrat Baiget, Pia Gallano

    المصدر: PLoS ONE, Vol 10, Iss 8, p e0135189 (2015)

    مصطلحات موضوعية: Medicine, Science

    العلاقة: http://europepmc.org/articles/PMC4540588?pdf=renderTest; https://doaj.org/toc/1932-6203Test; https://doaj.org/article/1b1eb347881b4fc1be05851da8e1216eTest

    الإتاحة: https://doi.org/10.1371/journal.pone.0135189Test
    https://doaj.org/article/1b1eb347881b4fc1be05851da8e1216eTest

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  10. 10
    دورية أكاديمية
    Comparison of dysferlin expression in human skeletal muscle with that in monocytes for the diagnosis of dysferlin myopathy.

    المؤلفون: Eduard Gallardo, Noemi de Luna, Jordi Diaz-Manera, Ricardo Rojas-García, Lidia Gonzalez-Quereda, Bàrbara Flix, Antoine de Morrée, Silvère van der Maarel, Isabel Illa

    المصدر: PLoS ONE, Vol 6, Iss 12, p e29061 (2011)

    مصطلحات موضوعية: Medicine, Science

    العلاقة: https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/22194990/?tool=EBITest; https://doaj.org/toc/1932-6203Test; https://doaj.org/article/a2790daf220b462ebf310415059896beTest

    الإتاحة: https://doi.org/10.1371/journal.pone.0029061Test
    https://doaj.org/article/a2790daf220b462ebf310415059896beTest

    View record in BASE النص الكامل

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