Zobrazeno 1 - 10
of 179
pro vyhledávání: '"Luis A Pérez‐Jurado"'
Autor:
Carlos Ruiz-Arenas, Leire Abarrategui, Carles Hernandez-Ferrer, Xavier Escribà-Montagut, Dolors Pelegrí-Sisó, Patricia Ryser-Welch, Martine Vrijheid, Mariona Bustamante, Regina Grazuleviciene, Johanna Lepeule, Mathew Mathai, Marina Vafeiadi, Sergi Beltran, Luis A Pérez-Jurado, Juan R González
Publikováno v:
Epigenetics, Vol 18, Iss 1 (2023)
Epimutations are rare alterations of the normal DNA methylation pattern at specific loci, which can lead to rare diseases. Methylation microarrays enable genome-wide epimutation detection, but technical limitations prevent their use in clinical setti
Externí odkaz:
https://doaj.org/article/91b5057aa73a4f92b3804f9c854f6ce1
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
Publikováno v:
EMBO Molecular Medicine, Vol 9, Iss 10, Pp 1338-1345 (2017)
Abstract The discovery of a mutation in a specific gene can be very important for determining the pathophysiology underlying the disease of a patient and may also help to decide the best treatment protocol on an individual basis. However, sometimes t
Externí odkaz:
https://doaj.org/article/a2d7ccb6f0b340328c5c1172b50df428
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:
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 n/a-n/a (2018)
Externí odkaz:
https://doaj.org/article/3f7e933f66b94e9b9afff55bef9f5059
Autor:
Paula Ortiz-Romero, Cristina Borralleras, Mònica Bosch-Morató, Biuse Guivernau, Guillermo Albericio, Francisco J Muñoz, Luis A Pérez-Jurado, Victoria Campuzano
Publikováno v:
PLoS ONE, Vol 13, Iss 3, p e0194476 (2018)
Williams-Beuren syndrome (WBS) is a neurodevelopmental disorder caused by a heterozygous deletion of 26-28 genes at chromosome band 7q11.23. The complete deletion (CD) mouse model mimics the most common deletion found in WBS patients and recapitulate
Externí odkaz:
https://doaj.org/article/d89695bfdf0347a09128c9dce9e13461
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:
Alejandro Cáceres, Tõnu Esko, Irene Pappa, Armand Gutiérrez, Maria-Jose Lopez-Espinosa, Sabrina Llop, Mariona Bustamante, Henning Tiemeier, Andres Metspalu, Peter K Joshi, James F Wilsonx, Judith Reina-Castillón, Jean Shin, Zdenka Pausova, Tomáš Paus, Jordi Sunyer, Luis A Pérez-Jurado, Juan R González
Publikováno v:
PLoS ONE, Vol 11, Iss 6, p e0157739 (2016)
The chromosome bands 15q24.1-15q24.3 contain a complex region with numerous segmental duplications that predispose to regional microduplications and microdeletions, both of which have been linked to intellectual disability, speech delay and autistic
Externí odkaz:
https://doaj.org/article/fa370f2c95534fc8a36addc8ecc74df3