نتائج البحث - "ADAMTS19"

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Repositorio EdocUR-U. Rosario
Universidad del Rosario
instacron:Universidad del Rosario

مصطلحات موضوعية: Evolución & genética, Ovario, Procesos biológicos, Ovary, Interacción proteica, COL6A2, Proteic interaction, Falla ovárica prematura, ADAMTS19, Genética, Premature ovarian failure, Enfermedades del ovario

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Next generation sequencing in women affected by nonsyndromic premature ovarian failure displays new potential causative genes and mutations

المؤلفون: Asid de Jesús Rodríguez, Heidi Mateus, Paul Laissue, Oscar Ortega-Recalde, Yohjana Carolina Suárez, Liliana C Patiño, Ivonne Díaz-Yamal, Dora Janeth Fonseca, Karen Marcela Jiménez

المصدر: Repositorio EdocUR-U. Rosario
Universidad del Rosario
instacron:Universidad del Rosario

مصطلحات موضوعية: Candidate gene, Sanger sequencing, Primary Ovarian Insufficiency, Gene sequence, Bioinformatics, Procedures, Gene, Cohort Studies, ADAMTS Proteins, Computer model, High throughput sequencing, Pof, Bmpr2 protein, Priority journal, Genetics, education.field_of_study, Bmpr2 gene, type ii, Sequence analysis, High-Throughput Nucleotide Sequencing, Obstetrics and Gynecology, Bone morphogenetic protein receptor 2, Bone morphogenetic protein receptors, Premature ovarian failure, Retrospective study, Phenotype, symbols, Cohort studies, Female, Cohort analysis, Menopause, Sequence Analysis, Cohort study, Adult, Lhcgr gene, Population, Case control study, Major clinical study, Primary ovarian insufficiency, Case-control studies, Biology, Bone Morphogenetic Protein Receptors, Type II, DNA sequencing, Article, Adam proteins, symbols.namesake, Next generation sequencing, Adamts19, medicine, Humans, human, Gene mutation, education, Allele frequency, Retrospective Studies, Adamts19 protein, medicine.disease, Adam protein, Adamts19 gene, Retrospective studies, ADAM Proteins, Reproductive Medicine, Case-Control Studies, Mutation, Etiology, High-throughput nucleotide sequencing, Bmpr2

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4893716ef715ca7f8122891b2cb00403
https://repository.urosario.edu.co/handle/10336/24058

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Secuenciación de siguiente generación en mujeres afectadas por falla ovárica prematura no sindrómica para la identificación de nuevos genes etiológicos de la enfermedad y estudio funcional de la mutación p.thr943ile en adamts19

المؤلفون: Rodríguez Villanueva, Asid De Jesus

المساهمون: Laissue, Paul, Fonseca-Mendoza, Dora Janeth

المصدر: Aittomäki, K., J. D. Lucena, P. Pakarinen, P. Sistonen, J. Tapanainen et al., 1995 Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure. Cell 82: 959-968.
Anasti, J. N., 1998 Premature ovarian failure: an update. Fertility and sterility 70: 1-15
Cal, S., A. J. Obaya, M. a. Llamazares, C. Garabaya, V. c. Quesada et al., 2002 Cloning, expression analysis, and structural characterization of seven novel human ADAMTSs, a family of metalloproteinases with disintegrin and thrombospondin-1 domains. Gene 283: 49-62
Conway, G. S., 2000 Premature ovarian failure. British medical bulletin 56: 643-649.
Di Pasquale, E., R. Rossetti, A. Marozzi, B. Bodega, S. Borgato et al., 2006 Identification of new variants of human BMP15 gene in a large cohort of women with premature ovarian failure. The Journal of Clinical Endocrinology & Metabolism 91: 1976-1979
Laissue, P., 2015 Aetiological coding sequence variants in non-syndromic premature ovarian failure: From genetic linkage analysis to next generation sequencing. Molecular and cellular endocrinology
Repositorio EdocUR-U. Rosario
Universidad del Rosario
instacron:Universidad del Rosario

مصطلحات موضوعية: Células eucariotas, Mutación, Proteínas, Falla ovarica prematura, COL6A2, ADAMTS19, Infertilidad, Antropología física, Genética humana, Genética

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d3046033e2c42887a410346f41405add
http://repository.urosario.edu.co/handle/10336/11835

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