Molecular testing for fragile X: Analysis of 5062 tests from 1105 fragile X families - Performed in 12 clinical laboratories in Spain

BioMed Research International

Volumn 2014, Issue , 2014, Pages

  Tejada, María Isabel ^a   Glover, Guillermo ^b   Martínez, Francisco ^c   Guitart, Miriam ^d   De Diego Otero, Yolanda ^e   Fernández Carvajal, Isabel ^f   Ramos, Feliciano J ^a   Hernández Chico, Concepción ^g   Pintado, Elizabet ^h   Rosell, Jordi ⁱ   Calvo, María Teresa ^j   Ayuso, Carmen ^k   Ramos Arroyo, María Antonia ^l   Maortua, Hiart ^a   Milà, Montserrat ^k  

^a CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^b HOSPITAL UNIVERSITARIO VIRGEN DE LA ARRIXACA   (Spain)

^c HOSPITAL UNIVERSITARIO LA FE   (Spain)

^d UNIVERSITAT AUTÒNOMA DE BARCELONA   (Spain)

^e Institute of Biomedical Research in Malaga and BIONAND Nanomedicine Platform   (Spain)

^f UNIVERSITY OF VALLADOLID   (Spain)

^g HOSPITAL RAMÓN Y CAJAL   (Spain)

^h HOSPITAL UNIVERSITARIO VIRGEN MACARENA   (Spain)

ⁱ HOSPITAL UNIVERSITARIO SON ESPASES   (Spain)

^j HOSPITAL UNIVERSITARIO MIGUEL SERVET   (Spain)

^k INSTITUTO DE SALUD CARLOS III   (Spain)

^l Instituto de Investigación Sanitaria de Navarra   (Spain)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CLINICAL LABORATORY; FEMALE; FRAGILE X SYNDROME; GENE FREQUENCY; GENE MUTATION; GENETIC COUNSELING; HUMAN; INTELLECTUAL IMPAIRMENT; KLINEFELTER SYNDROME; MALE; MOLECULAR DIAGNOSIS; MOLECULAR GENETICS; NEWBORN; REGISTER; SPAIN; ADOLESCENT; ALLELE; CHILD; CLINICAL TRIAL; GENETIC SCREENING; GENETICS; INFANT; MIDDLE AGED; MULTICENTER STUDY; PRESCHOOL CHILD;

ADOLESCENT; ADULT; ALLELES; CHILD; CHILD, PRESCHOOL; FEMALE; FRAGILE X SYNDROME; GENE FREQUENCY; GENETIC TESTING; HUMANS; INFANT; INFANT, NEWBORN; MALE; MIDDLE AGED; REGISTRIES; SPAIN;

EID: 84902144155     PISSN: 23146133     EISSN: 23146141     Source Type: Journal    
DOI: 10.1155/2014/195793     Document Type: Article

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