Zobrazeno 1 - 10
of 143
pro vyhledávání: '"Gabriel Á Martos-Moreno"'
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
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
Autor:
Laura J. Grange, John J. Reynolds, Farid Ullah, Bertrand Isidor, Robert F. Shearer, Xenia Latypova, Ryan M. Baxley, Antony W. Oliver, Anil Ganesh, Sophie L. Cooke, Satpal S. Jhujh, Gavin S. McNee, Robert Hollingworth, Martin R. Higgs, Toyoaki Natsume, Tahir Khan, Gabriel Á. Martos-Moreno, Sharon Chupp, Christopher G. Mathew, David Parry, Michael A. Simpson, Nahid Nahavandi, Zafer Yüksel, Mojgan Drasdo, Anja Kron, Petra Vogt, Annemarie Jonasson, Saad Ahmed Seth, Claudia Gonzaga-Jauregui, Karlla W. Brigatti, Alexander P. A. Stegmann, Masato Kanemaki, Dragana Josifova, Yuri Uchiyama, Yukiko Oh, Akira Morimoto, Hitoshi Osaka, Zineb Ammous, Jesús Argente, Naomichi Matsumoto, Constance T.R.M. Stumpel, Alexander M. R. Taylor, Andrew P. Jackson, Anja-Katrin Bielinsky, Niels Mailand, Cedric Le Caignec, Erica E. Davis, Grant S. Stewart
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-22 (2022)
The SMC5/6 complex is critical for genome stability. Here, the authors identify mutations in SLF2 and SMC5 as cause of Atelís Syndrome characterized by microcephaly, short stature, anemia, segmented chromosomes and mosaic variegated hyperploidy.
Externí odkaz:
https://doaj.org/article/bfe3845b80824c5996d10d21e1575e9d
Autor:
Gabriel Á. Martos-Moreno, Julián Martínez-Villanueva, Rocío González-Leal, Vicente Barrios, Sara Sirvent, Federico Hawkins, Julie A. Chowen, Jesús Argente
Publikováno v:
Frontiers in Pediatrics, Vol 8 (2020)
Background: Body fat content and distribution in childhood is influenced by sex and puberty, but interethnic differences in the percentage and distribution of body fat also exist. The abdominal visceral/subcutaneous fat ratio has been the main featur
Externí odkaz:
https://doaj.org/article/34dd5489a6224eeabf7a9b36b2ce0cd4
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:
Andrea M, Haqq, Wendy K, Chung, Hélène, Dollfus, Robert M, Haws, Gabriel Á, Martos-Moreno, Christine, Poitou, Jack A, Yanovski, Robert S, Mittleman, Guojun, Yuan, Elizabeth, Forsythe, Karine, Clément, Jesús, Argente
Publikováno v:
The Lancet Diabetes & Endocrinology. 10:859-868
Impaired cilial signalling in the melanocortin-4 receptor (MC4R) pathway might contribute to obesity in patients with Bardet-Biedl syndrome and Alström syndrome, rare genetic diseases associated with hyperphagia and early-onset severe obesity. We ai
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2962797ee5aa807f76cc357fb3df073
https://doi.org/10.1016/s2213-8587(22)00277-7
https://doi.org/10.1016/s2213-8587(22)00277-7
Autor:
Janire Escudero García, Gabriel Á. Martos-Moreno, Verónica Sanz Santiago, Amalia Uribe Posada, Álvaro Martín Rivada, Jesús Argente
Publikováno v:
Endocrinología, Diabetes y Nutrición. 69:576-583
Resumen Introduccion El desarrollo de diabetes mellitus en pacientes afectos de fibrosis quistica (DRFQ) se relaciona con peor estado nutricional y funcion pulmonar y aumento de mortalidad. La relevancia del diagnostico de los estados «prediabeticos
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3f0f75abbfa9edef26324e228cdf7164
https://doi.org/10.1016/j.endinu.2021.08.003
https://doi.org/10.1016/j.endinu.2021.08.003