Zobrazeno 1 - 10
of 27
pro vyhledávání: '"Miguel Fernández-Burriel"'
Autor:
Mario Torrado, Emilia Maneiro, Arsonval Lamounier Junior, Miguel Fernández-Burriel, Sara Sánchez Giralt, Ana Martínez-Carapeto, Laura Cazón, Elisa Santiago, Juan Pablo Ochoa, William J. McKenna, Luis Santomé, Lorenzo Monserrat
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-22 (2022)
Abstract The finding of a genotype-negative hypertrophic cardiomyopathy (HCM) pedigree with several affected members indicating a familial origin of the disease has driven this study to discover causative gene variants. Genetic testing of the proband
Externí odkaz:
https://doaj.org/article/c868467e243b4073b28e6489e0a7d28c
Autor:
Jair Tenorio, Pablo Lapunzina, Elena Márquez Isidro, Verónica Deyanira García Navas, Ignacio Arroyo Carrera, Miguel Fernández-Burriel
Publikováno v:
Clinical Genetics. 99:812-817
Missense and frameshift pathogenic variants and microdeletions involving TBL1XR1 gene have been described in patients with intellectual disability, autism, Rett-like features and schizophrenia, some of them with the clinical diagnosis of Pierpont syn
Publikováno v:
Advances in Laboratory Medicine, Vol 1, Iss 2, Pp 795-9 (2020)
Resumen Objetivos Demostrar la importancia de la realización del estudio del sedimento urinario con la correcta interpretación y tipificación de los cristales como herramienta diagnóstica en el laboratorio clínico, así como de la elaboración d
Autor:
Pablo Lapunzina, Jair Tenorio, Ignacio Arroyo Carrera, Verónica Deyanira García Navas, Miguel Fernández-Burriel, Elena Márquez Isidro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8bec19424a44990857bec349dc7a9ad9
https://doi.org/10.1111/cge.13937/v2/response1
https://doi.org/10.1111/cge.13937/v2/response1
Publikováno v:
Advances in Laboratory Medicine, Vol 1, Iss 2, Pp 795-9 (2020)
Objectives To demonstrate the importance of carrying out the urinary sediment study with the correct interpretation and crystals typification as a clinical laboratory diagnostic tool, as well as the elaboration of protocols that determine the need to
Autor:
Teresa Jaijo, Carmen Ayuso, Carla Fuster-García, Ana Sánchez-De la Morena, José M. Millán, Neus Fornés, Gema García-García, Miguel Fernández-Burriel, Elena Aller
Publikováno v:
SCIENTIFIC REPORTS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Scientific Reports
Scientific Reports, Vol 8, Iss 1, Pp 1-13 (2018)
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Scientific Reports
Scientific Reports, Vol 8, Iss 1, Pp 1-13 (2018)
Usher syndrome is a rare disorder causing retinitis pigmentosa, together with sensorineural hearing loss. Due to the phenotypic and genetic heterogeneity of this disease, the best method to screen the causative mutations is by high-throughput sequenc
Autor:
Encarnació Riudor, Miguel Fernández-Burriel, Aleix Navarro-Sastre, Julio Montoya, E López-Gallardo, J. A. Arranz, M. del Toro, Willy Lissens, Aida Font, Antonia Ribes, Frederic Tort, Nuria Buján, Paz Briones
Publikováno v:
Clinical Genetics. 80:297-300
No abstract available
Autor:
Laia Rodriguez-Revenga, Antonio Mur, Milagros Martí, Miguel Fernández-Burriel, Irene Madrigal, Montserrat Milà, Jose Carlos Cabrera
Publikováno v:
Journal of Human Genetics. 55:822-826
Partial duplications involving the long arm of the X chromosome are associated with mental retardation, short stature, microcephaly, hypopituitarism and a wide range of physical findings. We identified an inherited Xq26.2-Xq26.3 duplication in two br
Autor:
Irene, Madrigal, Laia, Rodríguez-Revenga, Celia, Badenas, Aurora, Sánchez, Francisco, Martinez, Isabel, Fernandez, Miguel, Fernández-Burriel, Miguel, Fernández-Buriel, M, Milà
Publikováno v:
GENETICS IN MEDICINE
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Purpose: Routine protocols for the study of mental retardation include karyotype, analysis for fragile X syndrome, and subtelomeric rearrangements. Nevertheless, detection of cryptic rearrangements requires more sensitive techniques. Mutation screeni
Publikováno v:
Medicina Clínica. 120:584-588