Zobrazeno 1 - 10
of 24
pro vyhledávání: '"Jesús Pozo-Román"'
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:
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:
Lourdes Travieso-Suárez, Arrate Pereda, Jesús Pozo-Román, Guiomar Pérez de Nanclares, Jesús Argente
Publikováno v:
Anales de Pediatría, Vol 88, Iss 2, Pp 107-109 (2018)
Externí odkaz:
https://doaj.org/article/4dc980fb1b6344528003f9be1e78c42a
Autor:
Lourdes Travieso-Suárez, Arrate Pereda, Jesús Pozo-Román, Guiomar Pérez de Nanclares, Jesús Argente
Publikováno v:
Anales de Pediatría (English Edition), Vol 88, Iss 2, Pp 107-109 (2018)
Externí odkaz:
https://doaj.org/article/0d582c442090402bafbe3f96b08c60f5
Autor:
Carmen de Lucas-Collantes, Jesús Pozo-Román, Cristina Aparicio-López, Inmaculada de Prada-Vicente, Jesús Argente
Publikováno v:
Nefrología (English Edition), Vol 36, Iss 5, Pp 556-558 (2016)
Externí odkaz:
https://doaj.org/article/910917cc60ff47d890cf5670674080fc
Autor:
Carmen de Lucas-Collantes, Jesús Pozo-Román, Cristina Aparicio-López, Inmaculada de Prada-Vicente, Jesús Argente
Publikováno v:
Nefrología, Vol 36, Iss 5, Pp 556-558 (2016)
Externí odkaz:
https://doaj.org/article/1c746ddcca67479abde7d98539bd4ec9
Autor:
María Güemes, Álvaro Martín-Rivada, Marta Bascuas Arribas, Eva María Andrés-Esteban, Blanca Molina Angulo, Jesús Pozo Román, Jesús Argente
Publikováno v:
Journal of the Endocrine Society. 7
Context Successful rates of hematopoietic stem cell transplantation (HSCT) face paralleled escalation of late endocrine and metabolic effects. Objective This work aimed to characterize these sequelae distinguishing between the underlying pathologies
Autor:
Maria Guemes, Jesús Pozo-Román, Nelmar Valentina Ortiz-Cabrera, Luis A. Pérez-Jurado, Jesús Argente, Álvaro Martín-Rivada
Publikováno v:
Hormone Research in Paediatrics. 93:567-572
Introduction: Primary autosomal recessive microcephalies (MCPHs) are characterized by primary dwarfism with MCPH and may present delayed psychomotor development and visual impairment. Biallelic loss of function variants in the PLK4 gene , which encod
Autor:
Jesús Pozo Román, María Márquez Rivera, Beatriz Corredor Andrés, Lourdes Travieso Suárez, Jesús Argente, María Teresa Muñoz Calvo, Miguel Ángel López Pino
Publikováno v:
Anales de Pediatría (English Edition), Vol 90, Iss 5, Pp 293-300 (2019)
Biblos-e Archivo. Repositorio Institucional de la UAM
instname
Biblos-e Archivo. Repositorio Institucional de la UAM
instname
Background: Central diabetes insipidus (CDI) is a rare disorder in children. The aetiology of CDI in childhood is heterogeneous. The aim of this study is to illustrate the importance of a careful clinical and neuro-radiological follow-up of the pitui
Autor:
Gabriel Á. Martos-Moreno, Jesús Pozo-Román, Neimar Valentina Ortiz-Cabrera, Álvaro Martín-Rivada, Jesús Argente, Maria Guemes
Publikováno v:
Hormone Research in Paediatrics. 92:269-275
Background: LZTR1 participates in RAS protein degradation, hence limiting the RAS/MAPK cascade. Pathogenic mutations in LZTR1 (MIM:600574) have been described in a few patients with Noonan syndrome (NS). Three patients with LZTR1 mutations of differe