المؤلفون: Luis A. Méndez-Rosado, Norma de León-Ojeda, Alina García, Frenny Sheth, Asmaa Gaadi, Ahmed Aziz Bousfiha, Mouna Lehlimi, Abdelhafid Natiq, Oxana S. Kurinnaia, Svetlana G. Vorsanova, Ivan Iourov, Dagmar Huhle, Thomas Liehr

المصدر: Egyptian Journal of Medical Human Genetics, Vol 23, Iss 1, Pp 1-8 (2022)

مصطلحات موضوعية: DiGeorge syndrome (DGS), del(22)(q11.2q11.2), Clinical features, Molecular diagnosis, Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2090-2441

URL الوصول: https://doaj.org/article/1d14f5e89b2c49e4aece3d936bbec468

المؤلفون: Odalis Molina-Gamboa, Andurina Barrios-Martinez, Alina Garсia-Garсia, Luanda Maceira, Luis A. Mendez-Rosado

مصطلحات موضوعية: medicine, medical genetics, trisomy 6p, translocation, neurodevelopmental disorders, craniosynostosis, syndrome

Relation: Essentially pure partial trisomy 6(p21.31-p25) (case report and literature review) / Odalis Molina-Gamboa [et al.] // Научные результаты биомедицинских исследований. - 2021. - Т.7, №4.- P. 322-329. - Doi:10.18413/2658-6533-2021-7-4-0-1. - Refer.: p. 327-329.; http://dspace.bsu.edu.ru/handle/123456789/46040

الاتاحة: http://dspace.bsu.edu.ru/handle/123456789/46040

المؤلفون: Michel Soriano Torres, Alejandro Esperón Álvarez, Anduriña Barrios Martínez, Luis A Méndez Rosado

المصدر: Salud, Ciencia y Tecnología - Serie de Conferencias. 2:165

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::2de7804aa9279fd0accb033389ed6d96
https://doi.org/10.56294/sctconf2023165

المؤلفون: Luis Alberto Méndez Rosado, Aracelis Lantigua Cruz, Maria Zelenova, Svetlana Vorsanova, Ivan Iourov

المصدر: Revista Cubana de Pediatría, Vol 92, Iss 4 (2020)

مصطلحات موضوعية: chromosomal abnormalities, neurodevelopmental disorders, CNV, genomic aberrations, microdeletions, genome, microduplications, Pediatrics, RJ1-570

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doajarticles::9b5da470248bf952dd29cb3062609859
http://scielo.sld.cu/scielo.php?script=sci_arttext&pid=S0034-75312020000400009&tlng=en

المؤلفون: Luis Alberto Méndez Rosado, Odalis Molina Gamboa, Arlay Castelvi Lopez, Michel Soriano Torres, Ursulina Suarez Mayedo, Minerva Garcia Rodríguez, Anduriña Barrios Martinez

المصدر: Revista Cubana de Pediatría, Vol 92, Iss 2 (2020)

مصطلحات موضوعية: citogenética molecular, aneuploidía, diagnóstico prenatal, Pediatrics, RJ1-570, hibridación fluorescente in situ

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doajarticles::ed341fc3137af40a05e2a7af9f38972b
http://scielo.sld.cu/scielo.php?script=sci_arttext&pid=S0034-75312020000200003&tlng=es

المؤلفون: Norma de León, Araceli Lantigua-Cruz, Thomas Liehr, Damaris García, A. García, Luis A. Méndez-Rosado, Odalis Molina-Gamboa

المصدر: Archivos Argentinos de Pediatria. 118

مصطلحات موضوعية: medicine.diagnostic_test, Genetic syndromes, business.industry, Cri du Chat Syndrome, Genetic disorder, medicine.disease, Clinical method, Chromosome (genetic algorithm), Pediatrics, Perinatology and Child Health, medicine, In patient, business, Trisomy, Algorithm, Fluorescence in situ hybridization

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::055230091781dec5fd68c721318871c6
https://doi.org/10.5546/aap.2020.eng.52

المؤلفون: Alina G. García, Anduriña Barrios Martínez, Michel Soriano Torres, Arlay Castelví López, Luis Alberto Méndez Rosado

المصدر: Research Results in Biomedicine. 5

مصطلحات موضوعية: Pathology, medicine.medical_specialty, business.industry, Female patient, Medicine, General Medicine, Jacobsen syndrome, business, Familial translocation, medicine.disease, Trisomy

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::4bff14062778f4233ee2f0df55ab146b
https://doi.org/10.18413/2658-6533-2019-5-3-0-2

المؤلفون: Luis A. Méndez-Rosado, Yuri B. Yurov, Friedrich-Schiller-Universität Jena, Ivan Y. Iourov, Thomas Liehr, Svetlana G. Vorsanova

المصدر: Research Results in Biomedicine. 5

مصطلحات موضوعية: Genetics, Interphase Chromosome, General Medicine, Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::765a742bab7e362be645209bfdc5c6ea
https://doi.org/10.18413/2658-6533-2019-5-3-0-1

المؤلفون: Mabel Cerrillo-Hinojosa, Niurka González-Domínguez, Elizabeth Cuétara-Lugo, Roberto Quadrelli, Peter Hu, Yamilé Alonso-García, Luis A. Méndez-Rosado, María Elena de la Torre-Santos, Alfonso Gutiérrez-Nájar, Pedro Carbonell-de la Torre, Anduriña Barrios-Martínez, Olga Quiñones-Maza, José Hernández-Gil, Patricia Venegas-Barbosa, Enny Morales-Rodríguez, Diana Sánchez-Peñarate, Diana Martín-García, Michel Soriano-Torres, Niurka Cedeño-Aparicio, Hector I. Pimentel-Benítez, Orlando González-Salé, Alicia Vaglio, Fernando Escobedo-Aguirre, Dulce Hechavarría-Estenoz, Patricia Torriani-Mendoza

المصدر: MEDICC review. 20(4)

مصطلحات موضوعية: Costa Rica, medicine.medical_specialty, Genetic counseling, Genetic admixture, Prenatal diagnosis, Genetic Counseling, Colombia, Chromosome Breakpoints, Pregnancy, Prenatal Diagnosis, medicine, Humans, Mexico, Chromosome Aberrations, business.industry, Obstetrics, Chromosomal fragile site, Cuba, Retrospective cohort study, Karyotype, General Medicine, medicine.disease, medicine.anatomical_structure, Karyotyping, Chorionic villi, Uruguay, Female, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::05326cc99687e15bb8271a3e83ab6fc7
https://pubmed.ncbi.nlm.nih.gov/31242169

المؤلفون: Luis A. Méndez-Rosado, Roberto Lardoeyt‐Ferrer

المصدر: Prenatal Diagnosis. 40:274-275

مصطلحات موضوعية: Adult, Latin Americans, Adolescent, business.industry, MEDLINE, Obstetrics and Gynecology, Chromosome Disorders, Prenatal diagnosis, Bioinformatics, Translocation, Genetic, Young Adult, Latin America, Phenotype, Child, Preschool, Prenatal Diagnosis, Chromosome Inversion, Humans, Medicine, Child, business, Live Birth, Genetics (clinical), Follow-Up Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4a2fd22dbce1206119d64b46f07fcbe
https://doi.org/10.1002/pd.5600

المؤلفون: Maritza García, U. Suarez-Mayedo, M. Torres-Palacios, J. Carbonell, R. Lardoeyt-Ferrer, L. Lozano-Lezcano, Luis A. Méndez-Rosado, U. Lima-Rodriguez, H. Pimentel-Benitez, M. Soriano-Torres, M. Pérez-Ramos, D. Hechavarría-Estenoz, N. Cedeño-Aparicio, E. Angulo-Cebada, Y. Benítez, M. Noblet, I. Blanco, S. Yosela-Martin, N. de León, E. Reyes-Hernández, M. E. de la Torre, B. Vidal-Hernández, M. Mitjans-Torres, D. Alvarez-Espinosa, S. Miñoso, J. F. Hernández-Gil, Beatriz Pérez, P. Carbonell, Montserrat Diéguez Pérez, A. Barrios-Martínez, M. Mayeta, E. Morales-Rodriguez, P. Díaz-Véliz

المصدر: Prenatal Diagnosis. 34:1049-1054

مصطلحات موضوعية: Pregnancy, education.field_of_study, medicine.medical_specialty, Down syndrome, medicine.diagnostic_test, business.industry, Obstetrics, Cross-sectional study, Population, Triple test, Obstetrics and Gynecology, Prenatal diagnosis, medicine.disease, medicine.anatomical_structure, medicine, Chorionic villi, education, business, Live birth, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::08e7d4f1e8f0399fd92476677c2560d9
https://doi.org/10.1002/pd.4421

المؤلفون: Juan Galarza, Araceli Lantigua, Thomas Liehr, Luis A. Méndez-Rosado, Ahmed Al-Rikabi, Monika Ziegler

المصدر: Journal of pediatric genetics. 6(3)

مصطلحات موضوعية: 0301 basic medicine, Genetics, Potocki–Lupski syndrome, Derivative chromosome, medicine.diagnostic_test, Genetic counseling, Chromosome, Germline mosaicism, Chromosomal translocation, Biology, medicine.disease, Molecular cytogenetics, 03 medical and health sciences, 030104 developmental biology, Pediatrics, Perinatology and Child Health, medicine, Genetics (clinical), Fluorescence in situ hybridization

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6417448daaa4915de28f9932bb1f484d
https://pubmed.ncbi.nlm.nih.gov/28794908

المؤلفون: Jorge Ignacio Nazábal Cowan, Luis Alberto Méndez Rosado, Martha Lavista González, Jorge Quintana Aguilar

المصدر: Revista Cubana de Pediatría, Vol 69, Iss 2, Pp 139-144 (1997)

مصطلحات موضوعية: PRENATAL DIAGNOSIS, CITOGENÉTICA, CHROMOSOME ABNORMALITIES, SISTEMAS DE INFORMACIÓN, lcsh:RJ1-570, DIAGNÓSTICO PRENATAL, lcsh:Pediatrics, ANOMALÍAS CROMOSÓMICAS, CYTOGENETICS, INFORMATION SYSTEMS

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doajarticles::cf9da31e956e6cfd943e51fbc8c03d57
http://scielo.sld.cu/scielo.php?script=sci_arttext&pid=S0034-75311997000200011

المؤلفون: Olga Quiñones, Yomisleidy Bravo, Luanda Maceiras, Luis A. Méndez-Rosado, Odalys Molina, Marylin del Sol, Nereida González

المصدر: Europe PubMed Central
Scopus-Elsevier

مصطلحات موضوعية: medicine.medical_specialty, Population, Aneuploidy, Chorionic villus sampling, Chromosome Disorders, Prenatal diagnosis, Pregnancy, Prenatal Diagnosis, medicine, Humans, Amniocyte, education, Retrospective Studies, Chromosome Aberrations, Gynecology, education.field_of_study, medicine.diagnostic_test, business.industry, Genetic Diseases, Inborn, Cytogenetics, Cuba, General Medicine, medicine.disease, Cytogenetic Analysis, Female, Trisomy, business, Algorithms, Fluorescence in situ hybridization

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a33c1a3a0aa884aef02b91210c251f5
https://doi.org/10.37757/mr2014.v16.n3-4.7

المؤلفون: Jorge Ignacio Nazábal Cowan, Luis Alberto Méndez Rosado, Martha Lavista González, Jorge Quintana Aguilar

المصدر: Revista Cubana de Pediatría, Vol 67, Iss 3, p 0 (1995)

مصطلحات موضوعية: INVERSION(GENETICA), LIQUIDO AMNIOTICO, lcsh:RJ1-570, AMNIOCENTESIS, CROMOSOMAS HUMANOS 1-3, lcsh:Pediatrics

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doajarticles::1060331ffc51520577cf6959d3f0c0e7
http://scielo.sld.cu/scielo.php?script=sci_arttext&pid=S0034-75311995000300008

المؤلفون: Luis Alberto Méndez-Rosado, Gisela Noche González, Tatiana Zaldívar Vaillant, Luanda Maceiras Rosales, Yomisleydy Bravo Álvarez

المصدر: Revista Cubana de Pediatría, Vol 88, Iss 4, Pp 511-518

مصطلحات موضوعية: fish, malformaciones, lcsh:RJ1-570, lcsh:Pediatrics, trastornos neurológicos, monosomía 21

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doajarticles::4e8432c49f2c6fe6c8da737f13747b0e
http://scielo.sld.cu/scielo.php?script=sci_arttext&pid=S0034-75312016000400011&lng=en&tlng=en

المؤلفون: E Cuétara, Maritza García, U. Suarez-Mayedo, A. Barrios-Martínez, G Huertas-Perez, O Molina-Gamboa, E Morales, Luis A. Méndez-Rosado

المصدر: Europe PubMed Central

مصطلحات موضوعية: 0301 basic medicine, Adult, Reoperation, medicine.medical_specialty, Amniotic fluid, Preservation, Biological, Prenatal diagnosis, Validation Studies as Topic, Chromosome aberration, Specimen Handling, 03 medical and health sciences, 0302 clinical medicine, Pregnancy, Refrigeration, Prenatal Diagnosis, medicine, Humans, In Situ Hybridization, Fluorescence, Chromosome Aberrations, 030219 obstetrics & reproductive medicine, medicine.diagnostic_test, business.industry, Obstetrics, Cytogenetics, Case-control study, Infant, Newborn, Obstetrics and Gynecology, medicine.disease, Amniotic Fluid, Surgery, 030104 developmental biology, Case-Control Studies, Karyotyping, Pediatrics, Perinatology and Child Health, Amniocentesis, Female, business, Fluorescence in situ hybridization

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8008d53b2a8ed577232c72782ec6456
http://europepmc.org/abstract/med/27160879

المؤلفون: Luis Alberto Méndez Rosado

المصدر: Revista Cubana de Pediatría, Pp 269-270

مصطلحات موضوعية: lcsh:RJ1-570, lcsh:Pediatrics

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doajarticles::324f6721cb18e800055708cad9f5a817
http://scielo.sld.cu/scielo.php?script=sci_arttext&pid=S0034-75312017000200016&lng=en&tlng=en

المؤلفون: Luis A. Méndez Rosado, Ignacio Nazábal Cowan, Marta Lavista González, Olga Quiñones Masa, Jorge Quintana Aguilar

المصدر: Scopus-Elsevier
Revista Cubana de Pediatría, Vol 70, Iss 2, Pp 105-107 (1998)

مصطلحات موضوعية: ENFERMEDADES FETALES, PRENATAL DIAGNOSIS, TRANSLOCACION (GENETICA), FETAL DISEASES, MOSAICISMO, lcsh:RJ1-570, DIAGNOSTICO PRENATAL, lcsh:Pediatrics, MOSAICISM, TRANSLOCATION (GENETICS)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::b95dd58c83e54bacef3528ebca6d607f
http://www.scopus.com/inward/record.url?eid=2-s2.0-54749147887&partnerID=MN8TOARS