Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Carola Guzmán Luján"'
Autor:
Raquel Rodríguez-López, Javier García-Planells, Marina Martínez-Matilla, Cristian Pérez-García, Amor García Banacloy, Carola Guzmán Luján, Otilia Zomeño Alcalá, Joaquina Belchi Navarro, Juan Martínez-León, Rafael Salguero-Bodes
Publikováno v:
Life, Vol 12, Iss 7, p 1035 (2022)
MYPBC3 and MYH7 are the most frequently mutated genes in patients with hereditary HCM. Homozygous and compound heterozygous genotypes generate the most severe phenotypes. A 35-year-old woman who was a homozygous carrier of the p.(Pro1066Arg) variant
Externí odkaz:
https://doaj.org/article/8bbf5163a4d34652b1629408ac3e3248
Autor:
Raquel Rodríguez-López, Fátima Gimeno-Ferrer, Elena Montesinos, Irene Ferrer-Bolufer, Carola Guzmán Luján, David Albuquerque, Carolina Monzó Cataluña, Virginia Ballesteros, Monserrat Aleu Pérez-Gramunt
Publikováno v:
Genes, Vol 12, Iss 8, p 1197 (2021)
Jacobsen syndrome or JBS (OMIM #147791) is a contiguous gene syndrome caused by a deletion affecting the terminal q region of chromosome 11. The phenotype of patients with JBS is a specific syndromic phenotype predominately associated with hematologi
Externí odkaz:
https://doaj.org/article/edee6aca82864f28adb49732ced417c6
Autor:
Raquel Rodríguez-López, Fátima Gimeno-Ferrer, David Albuquerque do Santos, Irene Ferrer-Bolufer, Carola Guzmán Luján, Otilia Zomeño Alcalá, Amor García-Banacloy, Virginia Ballesteros Cogollos, Carlos Sánchez Juan
Publikováno v:
Current Genomics. 23:147-162
Background: Individuals with a phenotype of early-onset severe obesity associated with intellectual disability can have molecular diagnoses ranging from monogenic to complex genetic traits. Severe overweight is the major sign of a syndromic physical
Autor:
Amor García Banacloy, David Albuquerque, Clara Vidal Garcia, Raquel Rodríguez-López, Goitzane Marcaida Benito, Marcos Bruna Esteban, Carola Guzmán Luján, Carlos Sánchez Juan, Fátima Gimeno-Ferrer
Publikováno v:
Gene. 704:74-79
MC4R gene is a hypothalamic satiety control mediator in which mutations cause a monogenic form of obesity. The aim of this study was to perform a genetic screening to identify variations in the entire region of MC4R gene. A total of 236 unrelated and
Autor:
Mercedes Ramón Capilla, Carola Guzmán Luján, Javier Milara Payá, Gustavo Juan Samper, Goitzane Marcaida Benito, Estrella Fernández Fabrellas, Cristina Sabater Abad, Raquel Rodriguez Lopez
Publikováno v:
Clinical Problems.
Autor:
Fátima Gimeno-Ferrer, Carola Guzmán Luján, Enrique Galán Gómez, Inés Quintela, Montserrat Aleu Pérez-Gramunt, David Albuquerque, Raquel Rodríguez-López, Virginia Ballesteros Cogollos, Cristina Torreira Banzas, Goitzane Marcaida Benito, Alfredo Repáraz-Andrade
Publikováno v:
Journal of human genetics. 64(3)
Syndromic monogenic obesity is a rare and severe early-onset form of obesity. It is characterized by intellectual disability, congenital malformations, and/or dysmorphic facies. The diagnosis of patients is challenging due to the genetic heterogenici