Zobrazeno 1 - 10 of 29 pro vyhledávání: '"Jaime Toral López"'
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Akademický článek
A Novel Compound Nonsense Variant in CYP27B1 Causes an Atypical Form of Vitamin D-Dependent Rickets Type 1A: A Case Report of Two Siblings in a Mexican Family
Autor: Jaime Toral López, Cesar Candia Tenopala, Alix Daniela Reyes Mosqueda, Miguel Ángel Fonseca Sánchez, Luz María González Huerta
Publikováno v: Diseases, Vol 12, Iss 10, p 248 (2024)
Background: Vitamin D-dependent rickets type 1A (VDDR1A) is a rare autosomal recessive disorder caused by pathogenic variants in the CYP27B1 gene, typically characterized by growth failure, rickets, leg bowing, fracture, seizures, hyperparathyroidism
Externí odkaz: https://doaj.org/article/dd663cc418184877ab2545e47b655cb2
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2
Akademický článek
New Genetic Variants of RUNX2 in Mexican Families Cause Cleidocranial Dysplasia
Autor: Jaime Toral López, Sandra Gómez Martinez, María del Refugio Rivera Vega, Edgar Hernández-Zamora, Sergio Cuevas Covarrubias, Belem Arely Ibarra Castrejón, Luz María González Huerta
Publikováno v: Biology, Vol 13, Iss 3, p 173 (2024)
Cleidocranial dysplasia (CCD) is an autosomal dominant skeletal dysplasia characterized by persistent open skull sutures with bulging calvaria, hypoplasia, or aplasia of clavicles permitting abnormal opposition of the shoulders; wide public symphysis
Externí odkaz: https://doaj.org/article/c7952edb2e9a472cada4ff3df044f6ba
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3
Akademický článek
Asociación entre hallazgos tomográficos pulmonares y la severidad clínica del SDRA en adultos con neumonía por COVID-19
Autor: Ma. del Pilar Cortés-Avalos, Jaime Toral-López, Nancy Y. Pérez-Vega
Publikováno v: Anales de Radiología, México, Vol 22, Iss 4 (2023)
Objetivo: Establecer la asociación entre los hallazgos tomográficos con la severidad clínica del síndrome de dificultad respiratoria aguda (SDRA) en adultos con neumonía por COVID-19. Material y métodos: Se realizó un estudio observacional, co
Externí odkaz: https://doaj.org/article/6b9ba78084b34c1e927ea93753b14296
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4
Recurrent Mutation (p.Arg718Pro) in the COMP Gene with Clinical Heterogeneity of Pseudoachondroplasia
Autor: Jaime Toral López, Luz María González Huerta
Publikováno v: Molecular Syndromology. :1-6
Introduction: Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED) are allelic and caused by mutations in the COMP gene. Other mutations in the genes MMP13, AIFM1, B3GALT6, MATN3, COL9A1, COL9A2, COL9A3, and SLC26A2 have also been ass
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::77a08a01d3bc6171a10fb1f8f4a30a0a
https://doi.org/10.1159/000528980
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5
Psychiatric symptoms in an adolescent reveal a novel compound heterozygous mutation of the PANK2 gene in the atypical PKAN syndrome
Autor: Sorina Gómez González, Jaime Toral López, Luz María González Huerta
Publikováno v: Psychiatric Genetics. 31:95-99
The proband in this study was a 16-year-old Mexican girl with psychotic and dyskinetic symptoms, and brain MRI showed at the basal ganglia the 'eye-of-the-tiger' sign. DNA direct sequencing identified a novel compound heterozygous mutation in the PAN
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4accff44189450ea295be8857716424e
https://doi.org/10.1097/ypg.0000000000000278
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6
Submicroscopic 11p13 deletion including the elongator acetyltransferase complex subunit 4 gene in a girl with language failure, intellectual disability and congenital malformations: A case report
Autor: Jaime Toral-López, Olga Messina-Baas, Luz María González Huerta, Sergio A. Cuevas-Covarrubias
Publikováno v: World Journal of Clinical Cases
BACKGROUND We described the main features of an infant diagnosed with facial dysmorphic, language failure, intellectual disability and congenital malformations to strengthen our understanding of the disease. Currently, treatment is only rehabilitatio
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0045307939b477e7823c8e3d007dfc7c
https://doi.org/10.12998/wjcc.v8.i21.5296
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9
A Family with Craniofrontonasal Syndrome and a Mutation (p.G151S) in the EFNB1 Gene: Expanding the Phenotype
Autor: Olga Messina Baas, Jaime Toral-López, Luz María González-Huerta, Sergio A. Cuevas-Covarrubias
Publikováno v: Molecular Syndromology. 7:32-36
Craniofrontonasal syndrome (CFNS) is a rare genetic entity with X-linked dominant inheritance. CFNS is due to mutations in the Ephrin-B1 (EFNB1) gene. It is characterized by brachycephaly, frontonasal dysplasia, palate/lip defects, dental malocclusio
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::818aaa9173e45b445e4b239a7b035dde
https://doi.org/10.1159/000444771
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10
Whole Exome Sequencing Reveals a Mutation in CRYBB2 in a Large Mexican Family with Autosomal Dominant Pulverulent Cataract
Autor: Sergio A. Cuevas-Covarrubias, Manuel L. Gonzalez-Garay, Jaime Toral-López, Olga Messina-Baas, Luz María González-Huerta
Publikováno v: Molecular Syndromology. 7:87-92
Congenital cataract, an important cause of reversible blindness, is due to several causes including Mendelian inheritance. Thirty percent of cataracts are hereditary with participation of the gamma crystallin genes. Clinical and genetic heterogeneity
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1d19653ec84a6f894b531be23f583d97
https://doi.org/10.1159/000445669
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