Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Juan Carlos Huicochea"'
Autor:
Grecia C. Olivera-Bernal, Marlon De Ita-Ley, Edgar F. Ricárdez-Marcial, Luz María Garduño-Zarazúa, Ángel Ricardo González-Cuevas, Omar A. Sepúlveda-Robles, Juan Carlos Huicochea-Montiel, Alan Cárdenas-Conejo, Laura Santana-Díaz, Haydeé Rosas-Vargas
Publikováno v:
Molecular Cytogenetics, Vol 17, Iss 1, Pp 1-9 (2024)
Abstract Background Differences in Sex Development (DSD) is a heterogeneous group of congenital alterations that affect inner and/or outer primary sex characters. Although these conditions do not represent a mortality risk, they can have a severe psy
Externí odkaz:
https://doaj.org/article/51b333d315494802972c4cf43e47478e
Autor:
Victor Ramzes Chavez-Herrera, Emmanuel Moreno-Ortiz, Roberto Casarrubias-Islas, Karen Alejandra Leal-Tapia, Rosa L. Margarita Flores-Salgado, Juan Carlos Huicochea-Montiel, Bayron A. Sandoval-Bonilla, Cristian Alberto Perez-Carrillo
Background Hypothalamic hamartomas in relationship to Pallister-Hall syndrome are extremely rare; just over 100 cases have been reported. Most hypothalamic hamartomas are sporadic. Observation(s) A 17-year-old boy presented with a 3-year history of g
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::651085b75fcb9d6fc1027cbcd03d2c55
https://doi.org/10.21203/rs.3.rs-2159692/v1
https://doi.org/10.21203/rs.3.rs-2159692/v1
Autor:
Marlon De Ita, Javier Gaytán-Cervantes, Bulmaro Cisneros, María Antonieta Araujo, Juan Carlos Huicochea-Montiel, Alan Cárdenas-Conejo, Charles César Lazo-Cárdenas, César Iván Ramírez-Portillo, Carina Feria-Kaiser, Leoncio Peregrino-Bejarano, Lucelli Yáñez-Gutiérrez, Carolina González-Torres, Haydeé Rosas-Vargas
Publikováno v:
Genes; Volume 13; Issue 9; Pages: 1662
Transposition of the great arteries (TGA) is a congenital heart defect with a complex pathogenesis that has not been fully elucidated. In this study, we performed whole-exome sequencing (WES) in isolated TGA-diagnosed patients and analyzed genes of m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5b89ce04a536bd19d4ba18cb4c445dad
Autor:
Vianey Ordóñez-Labastida, Lucero Monterde-Cruz, Juan Carlos Huicochea-Montiel, Alan Cárdenas-Conejo, María Antonieta de Jesús Araujo-Solís, Alberto Hidalgo-Bravo, Guadalupe E. Paredez-Rivera
Publikováno v:
Boletín Médico del Hospital Infantil de México, Vol 78, Iss 3 (2021)
Background: Progressive fibrodysplasia ossificans is a rare genetic disease with heterozygous mutations (autosomal dominant inheritance) in the ACVR1 gene, which causes progressive heterotopic ossification in muscles, tendons, and ligaments, usually
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::614de90c713d46353a46463e3747361a
https://doi.org/10.24875/bmhim.20000119
https://doi.org/10.24875/bmhim.20000119
Autor:
Alan Cárdenas-Conejo, María Antonieta de Jesús Araujo-Solís, Juan Carlos Huicochea-Montiel, Ana Cecilia Jara-Ettinger
Publikováno v:
Revista M�dica del Instituto Mexicano del Seguro Social. 59
Genetic counseling is the process of advising indivduals, partners and families affected by or at risk of genetic disorders to help them understand and adapt to the medical, psychological, social, family and reproductive implications of a genetic con
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0ff1727efa7f31f61201d5a84b6bd952
https://doi.org/10.24875/rmimss.m21000058
https://doi.org/10.24875/rmimss.m21000058
Autor:
Ana Cecilia, Jara-Ettinger, Alan, Cárdenas-Conejo, Juan Carlos, Huicochea-Montie, María Antonieta de Jesus, Araujo-Solís
Publikováno v:
Revista medica del Instituto Mexicano del Seguro Social. 59(1)
Genetic counseling is the process of advising indivduals, partners and families affected by or at risk of genetic disorders to help them understand and adapt to the medical, psychological, social, family and reproductive implications of a genetic con
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::2a1362c486f83f3c2e78e3d2b259d976
https://pubmed.ncbi.nlm.nih.gov/33667050
https://pubmed.ncbi.nlm.nih.gov/33667050
Autor:
César Antonio Flores-García, Carmina Jiménez-Ramírez, Ana Claudia Velázquez-Wong, Eliseo Espinosa-Poblano, Juan Carlos Huicochea-Montiel, Luz María Galicia-Sánchez, Fernando Fernández-Ramírez, José Manuel Hernández-Hernández, Everardo Hernández-Plata, Haydeé Rosas-Vargas
Publikováno v:
The clinical respiratory journal. 13(2)
Objectives Lung metastasizing leiomyomatosis (LML) is an infrequently diagnosed pathology developed after sexual maturation, commonly preceded by uterine myomas. Symptoms can include difficulties to breathe, cough, dyspnea and pain, because of mechan
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::033df139ff1f1ec1151f360bbe91d09b
https://pubmed.ncbi.nlm.nih.gov/30597752
https://pubmed.ncbi.nlm.nih.gov/30597752
Autor:
Eugenia Dolores Ruíz-Cruz, Edgar F. Ricardez-Marcial, Tomas Almeida-Becerril, Alan Cárdenas-Conejo, Rosa Elena Escobar-Cedillo, Juan Raúl Sánchez-González, Alan Donovan Solís-Serna, Maricela Rodríguez-Cruz, Oriana del Rocío Cruz-Guzmán, Salvador Atilano-Miguel, Juan Carlos Huicochea, Lourdes Barbosa-Cortés, Carlos Alberto Yam-Ontiveros
Publikováno v:
Clinical nutrition (Edinburgh, Scotland). 37(6 Pt)
Duchenne Muscular Dystrophy (DMD) is the most frequent dystrophy in childhood generated by a deficiency in dystrophin. DMD is a neuromuscular disease and its clinical course comprises chronic inflammation and gradual muscle weakness. Supplementation
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aedca3179fe807ef3083746dc7d5cb01
https://pubmed.ncbi.nlm.nih.gov/28987470
https://pubmed.ncbi.nlm.nih.gov/28987470
Autor:
Diego Arenas-Aranda, Cristian P Miguez-Muñoz, Ana Claudia Velázquez-Wong, María Antonieta de Jesús Araujo-Solís, Miguel Ángel Velázquez-Flores, Ruth Ruiz Esparza-Garrido, Fabio Salamanca-Gómez, Alan Cárdenas-Conejo, Juan Carlos Huicochea-Montiel
Publikováno v:
Cytogenetic and Genome Research. 144:183-189
We report on a 16-year-old girl with a complex phenotype, including intellectual disability, facial dysmorphisms, and obesity. During her infancy, she presented with weak sucking, global developmental delay, and later with excessive eating with centr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e3fad68f1b114c849b421fb35f328303
https://doi.org/10.1159/000370081
https://doi.org/10.1159/000370081
Autor:
R Ruiz Esparza-Garrido, Miguel Ángel Velázquez-Flores, Juan Carlos Huicochea-Montiel, Ana Claudia Velázquez-Wong, Fabio Salamanca-Gómez, María Antonieta de Jesús Araujo-Solís, Diego Arenas-Aranda
Publikováno v:
Molecular Syndromology. 3:82-88
Submicroscopic duplications in the Miller-Dieker critical region have been recently described as new genomic disorders. To date, only a few cases have been reported with overlapping 17p13.3 duplications in this region. Also, small deletions that affe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b9ebe24ab170bb936b40c1473d562991
https://doi.org/10.1159/000339639
https://doi.org/10.1159/000339639