Zobrazeno 1 - 10 of 46 pro vyhledávání: '"Luz María González Huerta"'
1
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
Zobrazit plný text záznamu
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
Zobrazit plný text záznamu
3
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
Zobrazit plný text záznamu
4
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
Zobrazit plný text záznamu
5
Partial Trisomy 13q/Monosomy 3p Resulting from a Paternal Reciprocal 3p;13q Translocation in a Boy with Facial Dysmorphism and Hypertrophic Cardiomyopathy
Autor: Zyndia Compean, Mónica D Martín-De Saro, Sergio Alberto Cuevas-Covarrubiass, Lautaro Plaza-Benhumea, Karina Aguilar, Luz María González-Huerta, Olga Messina-Baas
Publikováno v: Mol Syndromol
Individuals with 3p deletion show a great clinical variability. Apparently, a 1.5-Mb terminal deletion, including the CRBN and CNTN4 genes, is sufficient to cause this syndrome. Partial trisomy 13q is a rare chromosomal abnormality with a variable ph
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d930c46f6b6570f0d2ea3a1cb48475bd
https://doi.org/10.1159/000516058
Zobrazit plný text záznamu
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
Zobrazit plný text záznamu
8
Molecular characterization of Axenfeld-Rieger spectrum and other anterior segment dysgeneses in a sample of Mexican patients
Autor: Miguel Angel Alcántara-Ortigoza, Nancy Hernández-Martínez, Luz María González-Huerta, Ariadna González-del Angel, Sergio A. Cuevas-Covarrubias, Cristina Villanueva-Mendoza
Publikováno v: Ophthalmic Genetics. 39:728-734
Anterior segment dysgenesis (ASD) and Axenfeld-Rieger spectrum (ARS) are mainly due to PITX2 and FOXC1 defects, but it is difficult in some patients to differentiate among PITX2-, FOXC1-, PAX6- and CYP1B1-related disorders. Here, we set out to charac
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8be3dbb85372c88323825bc64759e26b
https://doi.org/10.1080/13816810.2018.1547911
Zobrazit plný text záznamu
10
Exome sequencing analysis reveals homozygous GJB2 gene mutation in a Mexican family with profound hearing loss
Autor: Luz María González-Huerta, H. Urueta-Cuéllar, M. Martínez-Saucedo, Sergio A. Cuevas-Covarrubias, M.R. Rivera-Vega
Publikováno v: Revista Médica del Hospital General de México, Vol 80, Iss 2, Pp 77-80 (2017)
Background Sensorineural hearing loss (SNHL) is a clinically and genetically heterogeneous disease. In some populations, c.365delG mutation in the GJB2 gene represents the most frequent cause of hereditary SNHL. The great diversity of mutations in th
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc598961d1b612ad583e4d64955e0a7d
https://doi.org/10.1016/j.hgmx.2016.08.001
Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání

Omezení vyhledávání
Plný text Recenzováno Digitální knihovna AV ČR
Zdroje