Zobrazeno 1 - 10 of 11 pro vyhledávání: '"Carlos A. Venegas-Vega"'
1
An Exploration of Social Cognition in Children with Different Degrees of Genetic Deletion in Williams Syndrome
Autor: Belén Prieto-Corona, Ma. Guillermina Yáñez-Téllez, Natalia Arias-Trejo, Juan Silva-Pereyra, Carlos Alberto Serrano-Juárez, Mario Rodríguez-Camacho, Hermelinda Salgado-Ceballos, Carlos A. Venegas-Vega, Miguel Angel De León Miranda
Publikováno v: Journal of Autism and Developmental Disorders. 51:1695-1704
An explanation for the social dysfunction observed in Williams syndrome may be deficits in social cognition. This study explored aspects of social cognition in children with Williams syndrome with different genotypes. The 12 participants included one
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d970447142e76be4db772de552a02a77
https://doi.org/10.1007/s10803-020-04656-4
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3
Familial mesial temporal lobe epilepsy in Mexico: Inheritance pattern and clinical features
Autor: Ana Luisa Velasco, Carlos A. Venegas-Vega, Mariana Alejandre Sánchez, Jaime Berumen Campos, Diana E. Guzmán-Jiménez
Publikováno v: Epilepsy Research. 167:106450
Purpose The objectives of this study were to determine the inheritance pattern by which familial mesial temporal lobe epilepsy (FMTLE) is segregated in Mexican families, and to identify if there was an association between the clinical characteristics
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5aba6d3b6a12d433b654a77e12d92442
https://doi.org/10.1016/j.eplepsyres.2020.106450
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4
Cognitive, Behavioral, and Adaptive Profiles in Williams Syndrome With and Without Loss of GTF2IRD2
Autor: Juan Silva-Pereyra, Mario Rodríguez-Camacho, Hermelinda Salgado-Ceballos, Belén Prieto-Corona, Ma. Guillermina Yáñez-Téllez, Carlos Alberto Serrano-Juárez, Carlos A. Venegas-Vega
Publikováno v: Journal of the International Neuropsychological Society : JINS. 24(9)
Williams syndrome (WS) is a neurodevelopmental disorder that results from a heterozygous microdeletion on chromosome 7q11.23. Most of the time, the affected region contains ~1.5 Mb of sequence encoding approximately 24 genes. Some 5–8% of patients
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad33adc78be9b7fac37f5f4ea8e5cfd8
https://pubmed.ncbi.nlm.nih.gov/30375319
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5
Diagnosis of Familial Wolf-Hirschhorn Syndrome due to a Paternal Cryptic Chromosomal Rearrangement by Conventional and Molecular Cytogenetic Techniques
Autor: Laura Gómez-Laguna, Alicia Cervantes, Susana Kofman, Fernando Fernández-Ramírez, Luis M. Zepeda, Jaime Berumen, Carlos A. Venegas-Vega, Karem Nieto-Martínez, Luz María Garduño-Zarazúa
Publikováno v: BioMed Research International
BioMed Research International, Vol 2013 (2013)
The use of conventional cytogenetic techniques in combination with fluorescentin situhybridization (FISH) and single-nucleotide polymorphism (SNP) microarrays is necessary for the identification of cryptic rearrangements in the diagnosis of chromosom
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32384a808f56774eb0bfdfb3c743128a
https://doi.org/10.1155/2013/209204
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6
19q13.11 microdeletion concomitant with ins(2;19)(p25.3;q13.1q13.4)dn in a boy: potential role of UBA2 in the associated phenotype
Autor: Laura Gómez-Laguna, Karem Nieto-Martínez, Alicia Cervantes, Susana Kofman, Jaime Berumen, Alejandro Martínez-Herrera, Fernando Fernández-Ramírez, Carlos A. Venegas-Vega
Publikováno v: Molecular Cytogenetics
The 19q13.11 microdeletion syndrome (MIM613026) is a clinically recognisable condition in which a 324-kb minimal overlapping critical region has been recently described. However, genes not included within this region, such as WTIP and UBA2, have been
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f55e6d6bdff0238f8c9259f2eeed6442
https://doi.org/10.1186/s13039-014-0061-z
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7
PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome
Autor: Maria Orera, María Ángeles Mori, Elena Vallespín, Chad R. Haldeman-Englert, Alberto Fernández-Jaén, Xia Li, Alberto Plaja, Lani Devaney, María Palomares-Bralo, Alicia Delicado, Rubén Martín-Arenas, Salmo Raskin, Stephanie E. Vallee, Esther Corbacho-Fernández, Rocío Mena, Miguel Del Campo, Jay W. Ellison, Holly Dubbs, Jill A. Rosenfeld, Fernando Santos-Simarro, Sixto García-Miñaur, Sulagna C. Saitta, Lluís Armengol, M. Carmen Crespo, Carlos A. Venegas-Vega, Inmaculada Rueda-Arenas, Jair Tenorio, Victoria E. Fernandez-Montano, Fernando Fernández-Ramírez, Karen W. Gripp, Blanca Marín Fernández, María Luisa de Torres, Pablo Lapunzina, Gordon C. Gowans, Elizabeth Denenberg, Julián Nevado, M Carmen Sanchez-Hombre, Mary Beth Dinulos, Duban B Bénédicte
Publikováno v: Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Array comparative genomic hybridization (aCGH) is a powerful genetic tool that has enabled the identification of novel imbalances in individuals with intellectual disability (ID), autistic disorders and congenital malformations. Here we report a 'gen
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::acda0a94c6bcf36efa06bb9657b508d7
https://pubmed.ncbi.nlm.nih.gov/25853300
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9
Impact of gene dosage on gene expression, biological processes and survival in cervical cancer: a genome-wide follow-up study
Autor: Ingrid Medina-Martinez, Mariano Guardado-Estrada, Edgar Zenteno, Valeria Barrón, Susana Kofman, Jaime Berumen, Eligia Juárez-Torres, Miriam Bermúdez, Edgar Román-Bassaure, Lorena Orozco, Fernando Mondaca Fernández, Ana María Espinosa, Carlos A. Venegas-Vega
Publikováno v: PLoS ONE
PLoS ONE, Vol 9, Iss 5, p e97842 (2014)
We investigated the role of tumor copy number (CN)-altered genome (CN-AG) in the carcinogenesis of cervical cancer (CC), especially its effect on gene expression, biological processes, and patient survival. Fifty-nine human papillomavirus 16 (HPV16)-
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ccb6774ec41f09a661b2e24ad2036f1a
https://pubmed.ncbi.nlm.nih.gov/24879114
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