Zobrazeno 1 - 10
of 110
pro vyhledávání: '"Gabriel Á Martos-Moreno"'
Autor:
Gabriel Á Martos‐Moreno, Lourdes Travieso‐Suárez, Jesús Pozo‐Román, María T Muñoz‐Calvo, Julie A Chowen, Mikko J Frilander, Luis A Pérez‐Jurado, Federico G Hawkins, Jesús Argente
Publikováno v:
EMBO Molecular Medicine, Vol 12, Iss 9, Pp n/a-n/a (2020)
Externí odkaz:
https://doaj.org/article/25c5950ce5c646468ff698eae73dd89d
Autor:
Jesús Argente, Raquel Flores, Armand Gutiérrez‐Arumí, Bhupendra Verma, Gabriel Á Martos‐Moreno, Ivon Cuscó, Ali Oghabian, Julie A Chowen, Mikko J Frilander, Luis A Pérez‐Jurado
Publikováno v:
EMBO Molecular Medicine, Vol 12, Iss 9, Pp n/a-n/a (2020)
Externí odkaz:
https://doaj.org/article/d2e7a76235fb4c859b656b689277ccd4
Autor:
Gabriel Á Martos‐Moreno, Lourdes Travieso‐Suárez, Jesús Pozo‐Román, María T Muñoz‐Calvo, Julie A Chowen, Mikko J Frilander, Luis A Pérez‐Jurado, Federico G Hawkins, Jesús Argente
Publikováno v:
EMBO Molecular Medicine, Vol 10, Iss 7, Pp 1-4 (2018)
Graphical Abstract After 6 years of Growth Hormone (GH) therapy, three patients with a defect in minor spliceosome mRNA processing leading to an incompletely understood GH deficit present with excellent auxological response and improvement in the bon
Externí odkaz:
https://doaj.org/article/3f7e933f66b94e9b9afff55bef9f5059
Autor:
Andrew Dauber, María T Muñoz‐Calvo, Vicente Barrios, Horacio M Domené, Soren Kloverpris, Clara Serra‐Juhé, Vardhini Desikan, Jesús Pozo, Radhika Muzumdar, Gabriel Á Martos‐Moreno, Federico Hawkins, Héctor G Jasper, Cheryl A Conover, Jan Frystyk, Shoshana Yakar, Vivian Hwa, Julie A Chowen, Claus Oxvig, Ron G Rosenfeld, Luis A Pérez‐Jurado, Jesús Argente
Publikováno v:
EMBO Molecular Medicine, Vol 8, Iss 4, Pp 363-374 (2016)
Abstract Mutations in multiple genes of the growth hormone/IGF‐I axis have been identified in syndromes marked by growth failure. However, no pathogenic human mutations have been reported in the six high‐affinity IGF‐binding proteins (IGFBPs) o
Externí odkaz:
https://doaj.org/article/224828b64cec4bdd98548afe1c5d47d5
Autor:
Clara Serra-Juhé, Gabriel Á Martos-Moreno, Francesc Bou de Pieri, Raquel Flores, Juan R González, Benjamín Rodríguez-Santiago, Jesús Argente, Luis A Pérez-Jurado
Publikováno v:
PLoS Genetics, Vol 13, Iss 5, p e1006657 (2017)
Obesity is a multifactorial disorder with high heritability (50-75%), which is probably higher in early-onset and severe cases. Although rare monogenic forms and several genes and regions of susceptibility, including copy number variants (CNVs), have
Externí odkaz:
https://doaj.org/article/4a4fe61f3472466d86e6652f95b4db1f
Autor:
Jesús Argente, Raquel Flores, Armand Gutiérrez‐Arumí, Bhupendra Verma, Gabriel Á Martos‐Moreno, Ivon Cuscó, Ali Oghabian, Julie A Chowen, Mikko J Frilander, Luis A Pérez‐Jurado
Publikováno v:
EMBO Molecular Medicine, Vol 6, Iss 3, Pp 299-306 (2014)
Abstract The molecular basis of a significant number of cases of isolated growth hormone deficiency remains unknown. We describe three sisters affected with severe isolated growth hormone deficiency and pituitary hypoplasia caused by biallelic mutati
Externí odkaz:
https://doaj.org/article/0c62d11ee4ff4c95b77c0b3ae95baeb8
Autor:
Ana Zamora Auñón, Blanca Guijo Alonso, Eva María De Andrés Esteban, Jesús Argente, Gabriel Á. Martos-Moreno
Publikováno v:
Anales de Pediatría, Vol 100, Iss 6, Pp 428-437 (2024)
Resumen: Introducción: El tratamiento de la obesidad infanto-juvenil, basado en modificaciones higiénico-dietéticas, ofrece habitualmente un éxito limitado y presenta una alta tasa de abandono del seguimiento por parte de los pacientes. La invest
Externí odkaz:
https://doaj.org/article/9a43de9eb4a24b148c74514b91bbe434
Autor:
Susana Granell, Clara Serra-Juhé, Gabriel Á Martos-Moreno, Francisca Díaz, Luis A Pérez-Jurado, Giulia Baldini, Jesús Argente
Publikováno v:
PLoS ONE, Vol 7, Iss 12, p e50894 (2012)
Heterozygous mutations in the melanocortin-4 receptor (MC4R) gene represent the most frequent cause of monogenic obesity in humans. MC4R mutation analysis in a cohort of 77 children with morbid obesity identified previously unreported heterozygous mu
Externí odkaz:
https://doaj.org/article/6fde1e9760d845088134006e30689e7f
Publikováno v:
Global Pediatrics, Vol 7, Iss , Pp 100126- (2024)
Childhood obesity continues to be a major health problem worldwide with the consequent associated comorbidities becoming apparent at very early ages and increasing throughout life. Although the prevention of obesity is essential, it is no less true t
Externí odkaz:
https://doaj.org/article/a76095d7c4914e94939a98b477379865
Autor:
Elizabeth Forsythe, Robert M. Haws, Jesús Argente, Philip Beales, Gabriel Á. Martos-Moreno, Hélène Dollfus, Costel Chirila, Ari Gnanasakthy, Brieana C. Buckley, Usha G. Mallya, Karine Clément, Andrea M. Haqq
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-10 (2023)
Abstract Background Bardet–Biedl syndrome is a rare genetic disease associated with hyperphagia and early-onset, severe obesity. There is limited evidence on how hyperphagia and obesity affect health-related quality of life in patients with Bardet
Externí odkaz:
https://doaj.org/article/95baf4bee81746aaaf9b8a040bb3a09a