TY  - JOUR
AU  - Tejada, María-Isabel
AU  - Glover, Guillermo
AU  - Martínez, Francisco
AU  - Guitart, Miriam
AU  - Diego-Otero, Yolanda de
AU  - Fernández-Carvajal, Isabel
AU  - Ramos, Feliciano J
AU  - Hernández-Chico, Concepción
AU  - Pintado, Elizabet
AU  - Rosell, Jordi
AU  - Calvo, María-Teresa
AU  - Ayuso, Carmen
AU  - Ramos-Arroyo, María-Antonia
AU  - Maortua, Hiart
AU  - Milà, Montserrat
PY  - 2014
DO  - 10.1155/2014/195793
UR  - http://hdl.handle.net/10668/1836
T2  - BioMed Research International
AB  - Fragile X syndrome is the most common inherited form of intellectual disability. Here we report on a study based on a collaborative registry, involving 12 Spanish centres, of molecular diagnostic tests in 1105 fragile X families comprising 5062...
LA  - en
PB  - Hindawi Publishing Corporation
KW  - Alelos
KW  - Síndrome del cromosoma X frágil
KW  - Frecuencia génica
KW  - Pruebas genéticas
KW  - Sistema de registros
KW  - España
KW  - Medical Subject Headings::Named Groups::Persons::Age Groups::Adult
KW  - Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Genome Components::Genes::Alleles
KW  - Medical Subject Headings::Named Groups::Persons::Age Groups::Child
KW  - Medical Subject Headings::Named Groups::Persons::Age Groups::Child::Child, Preschool
KW  - Medical Subject Headings::Check Tags::Female
KW  - Medical Subject Headings::Diseases::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Congenital Abnormalities::Chromosome Disorders::Sex Chromosome Disorders::Fragile X Syndrome
KW  - Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Gene Frequency
KW  - Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Genetic Techniques::Genetic Testing
KW  - Medical Subject Headings::Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans
KW  - Medical Subject Headings::Named Groups::Persons::Age Groups::Infant
KW  - Medical Subject Headings::Named Groups::Persons::Age Groups::Infant::Infant, Newborn
KW  - Medical Subject Headings::Check Tags::Male
KW  - Medical Subject Headings::Named Groups::Persons::Age Groups::Adult::Middle Aged
KW  - Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Data Collection::Registries
KW  - Medical Subject Headings::Geographicals::Geographic Locations::Europe::Spain
KW  - Medical Subject Headings::Named Groups::Persons::Age Groups::Adolescent
TI  - Molecular testing for fragile X: analysis of 5062 tests from 1105 fragile X families--performed in 12 clinical laboratories in Spain.
TY  - research article
ER  -