نتائج البحث - "Osvaldo M. Mutchinick"

1

دورية أكاديمية

Lynch syndrome in Mexican-Mestizo families: Genotype, phenotypes, and challenges in cascade testing among relatives at risk

المؤلفون: Pamela Rivero-García, Yanin Chavarri-Guerra, José Luis Rodríguez Olivares, Jeffrey N. Weitzel, Josef Herzog, Fernando Candanedo-González, Javier Ríos-Valencia, Osvaldo M. Mutchinick, Jazmín Arteaga-Vázquez

المصدر: Heliyon, Vol 10, Iss 11, Pp e31855- (2024)

مصطلحات موضوعية: Lynch syndrome, Cascade testing, Nonpolyposis colorectal cancer, MMR genes, Mexico, Science (General), Q1-390, Social sciences (General), H1-99

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2405844024078861; https://doaj.org/toc/2405-8440

URL الوصول: https://doaj.org/article/9a690b1e6662452aad704454048d8db8

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2

دورية أكاديمية

Telomeres length variations in a rheumatoid arthritis patients cohort at early disease onset and after follow-up

المؤلفون: Yevgeniya Svyryd, Virginia Pascual-Ramos, Irazú Contreras-Yañez, Luís A. Muñoz-Tellez, Leonora Luna-Muñoz, María A. López-Hernández, Adolfo Aguayo-Gómez, Osvaldo M. Mutchinick

المصدر: Revista de Investigación Clínica, Vol 74, Iss 4 (2022)

مصطلحات موضوعية: Telomere length variations. Rheumatoid arthritis. Follow-up length changes., Internal medicine, RC31-1245

وصف الملف: electronic resource

Relation: https://www.clinicalandtranslationalinvestigation.com/frame_esp.php?id=432; https://doaj.org/toc/0034-8376; https://doaj.org/toc/2564-8896

URL الوصول: https://doaj.org/article/18795ebaebab43acad081c9756ab983b

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3

دورية أكاديمية

Severe congenital neutropenia type 4: a rare disease harboring a G6pc3 gene pathogenic variant particular to the mexican population

المؤلفون: Larissa López-Rodríguez, Yevgeniya Svyryd, Edmar O. Benítez-Alonso, Pamela Rivero-García, Leonora Luna-Muñoz, Osvaldo M. Mutchinick

المصدر: Revista de Investigación Clínica, Vol 74, Iss 6 (2022)

مصطلحات موضوعية: Neutropenia. Severe congenital neutropenia. Severe congenital neutropenia type 4. G6PC3 mutations., Internal medicine, RC31-1245

وصف الملف: electronic resource

Relation: https://www.clinicalandtranslationalinvestigation.com/frame_esp.php?id=445; https://doaj.org/toc/0034-8376; https://doaj.org/toc/2564-8896

URL الوصول: https://doaj.org/article/3bd1e3a06b7c4177848c8b2ea782ca72

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4

Prevalence and mortality among children with anorectal malformation

المساهمون: Reproductive Origins of Adult Health and Disease (ROAHD)

المصدر: Birth defects research, 115(3), 390-404. Wiley

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3add8e5a2585dd0e8612b0192bfb18e
https://doi.org/10.1002/bdr2.2129

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5

Abstract P1-15-02: An educational cancer genetics course to increase knowledge on hereditary breast cancer syndromes among physicians-in-training at a teaching hospital in Mexico City

المؤلفون: Rafael Reyes Arciniega, Hector De la Mora Molina, Yanin Chavarri Guerra, Jose Luis Rodriguez Olivares, Enrique Soto Perez De Celis, Arantxa Lagunas Salazar, Osvaldo M Mutchinick, Jazmin Arteaga Vazquez, Andrea de la O Murillo, Rosa Elena Caballero Landinez

المصدر: Cancer Research. 80:P1-15

مصطلحات موضوعية: Cancer Research, medicine.medical_specialty, Oncology, business.industry, Family medicine, Cancer genetics, Mexico city, medicine, business, Teaching hospital, Hereditary Breast Cancer

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::063a14da822268d49f911af72d7bc3ac
https://doi.org/10.1158/1538-7445.sabcs19-p1-15-02

6

Hypospadias Prevalence and Trends in International Birth Defect Surveillance Systems, 1980–2010

المؤلفون: David Tucker, Miriam Gatt, Barry Borman, Wendy N. Nembhard, A. J. Agopian, Jorieke E. H. Bergman, Giovanna Tagliabue, Margery Morgan, Karin Kallen, Natasha Nassar, M. Aaurora Canessa, Wei Luo, Pierpaolo Mastroiacovo, Eva Bermejo-Sánchez, Rosa Gajardo, Xiao Yu, Elena Szabova, Mark A. Canfield, Carol Bower, Juan Andrés León, Jocelyn Rouleau, Antonin Sipek, R. Brian Lowry, Charlotte A. Hobbs, Melinda Csáky-Szunyogh, Boris Groisman, Ignacio Zarante, Hermien E. K. de Walle, Janet D. Cragan, Sonja Kiuru-Kuhlefelt, Amy Nance, Annukka Ritvanen, Anke Rissmann, Emmanuelle Amar, Anna Pierini, Osvaldo M. Mutchinick, Nicolás Fernández, Saeed Dastgiri, Paolo Contiero, Dorit Goetz, Fabrizio Bianchi, Gareth Baynam, Adriana Benavides, Laura Elia Martínez-de-Villarreal

المساهمون: Reproductive Origins of Adult Health and Disease (ROAHD)

المصدر: European Urology, 76(4), 482-490. ELSEVIER SCIENCE BV

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::727c15f6cf0dff6aff7a07e5af8efc56
https://doi.org/10.1016/j.eururo.2019.06.027

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7

Catalytically Impaired TYK2 Variants are Protective Against Childhood- and Adult-Onset Systemic Lupus Erythematosus in Mexicans

المؤلفون: Francisco Barajas-Olmos, Humberto García-Ortiz, Julian Ramírez-Bello, Cecilia Contreras-Cubas, Vicente Baca, Rafael Velázquez-Cruz, Osvaldo M. Mutchinick, Rosa Elda Barbosa-Cobos, Lorena Orozco, Angélica Martínez-Hernández, Paulina Baca, Maria A. López-Hernández, Yevgeniya Svyryd

المصدر: Scientific Reports, Vol 9, Iss 1, Pp 1-7 (2019)
Scientific Reports

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Linkage disequilibrium, Genotype, Population, lcsh:Medicine, Single-nucleotide polymorphism, Genome-wide association study, Polymorphism, Single Nucleotide, Article, Linkage Disequilibrium, 03 medical and health sciences, Systemic lupus erythematosus, 0302 clinical medicine, Gene Frequency, Risk Factors, Catalytic Domain, Genetics research, Odds Ratio, medicine, Humans, Lupus Erythematosus, Systemic, Child, education, skin and connective tissue diseases, lcsh:Science, Mexico, Allele frequency, Alleles, TYK2 Kinase, education.field_of_study, Multidisciplinary, Lupus erythematosus, business.industry, Haplotype, lcsh:R, medicine.disease, 030104 developmental biology, Haplotypes, Case-Control Studies, Interferon Type I, Immunology, Female, lcsh:Q, business, 030217 neurology & neurosurgery, Genome-Wide Association Study

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69d193006b4efefcf0f1a951287d2c79
http://link.springer.com/article/10.1038/s41598-019-48451-3

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8

OEIS complex: Prevalence, clinical, and epidemiologic findings in a multicenter Mexican birth defects surveillance program

المؤلفون: Osvaldo M. Mutchinick, Juan José Morales-Suárez, Leonora Luna-Muñoz, Jazmín Arteaga-Vázquez

المصدر: Birth Defects Research. 111:666-671

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75bfbc1087beb671b8b84b393871fe3a
https://doi.org/10.1002/bdr2.1512

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9

Survival of infants born with esophageal atresia among 24 international birth defects surveillance programs

المساهمون: Reproductive Origins of Adult Health and Disease (ROAHD)

المصدر: Birth Defects Res
Birth defects research, 113(12), 945-957. Wiley

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43791a60cbb27df0816bef70f169f985
https://europepmc.org/articles/PMC8273078/

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10

GMPPA defects cause a neuromuscular disorder with α-dystroglycan hyperglycosylation

المساهمون: UCL - SSS/DDUV - Institut de Duve, UCL - SSS/DDUV/BCHM - Biochimie-Recherche métabolique

المصدر: The Journal of clinical investigation, Vol. 131, no.9, p. e139076 [1-19] (2021)
J Clin Invest

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f7371ca3152f7966570f88d506b8d035
https://hdl.handle.net/2078.1/264486

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