Recurrent copy number variations as risk factors for neurodevelopmental disorders: Critical overview and analysis of clinical implications

Journal of Medical Genetics

Volumn 53, Issue 2, 2015, Pages 73-90

  Torres, Fátima ^a,b   Barbosa, Mafalda ^c,d   Maciel, Patrícia ^e,f  

^a CGC GENETICS   (Portugal)

^b UNIVERSITY OF PORTO   (Portugal)

^c MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^d INSTITUTO GULBENKIAN DE CIÊNCIA   (Portugal)

^e UNIVERSITY OF MINHO   (Portugal)

^f UNIVERSITY OF MINHO   (Portugal)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTISM; CHROMOSOME 15Q; CHROMOSOME 16P; CHROMOSOME 1Q; CHROMOSOME 22Q; CHROMOSOME 3Q; CHROMOSOME DELETION; CHROMOSOME REARRANGEMENT; CLINICAL PRACTICE; COPY NUMBER VARIATION; EPILEPSY; GENE LOCUS; GENETIC RISK; HUMAN; INTELLECTUAL IMPAIRMENT; LEARNING DISORDER; MENTAL DISEASE; NEUROBIOLOGY; PHENOTYPE; PRIORITY JOURNAL; RISK FACTOR; SCHIZOPHRENIA; ANIMAL; DISEASE MODEL; FEMALE; GENETIC COUNSELING; GENETIC PREDISPOSITION; GENETICS; HETEROZYGOTE; INDUCED PLURIPOTENT STEM CELL; NEURODEVELOPMENTAL DISORDERS; PHYSIOLOGY; PREGNANCY; PRENATAL DIAGNOSIS;

ANIMALS; AUTISM SPECTRUM DISORDER; DISEASE MODELS, ANIMAL; DNA COPY NUMBER VARIATIONS; EPILEPSY; FEMALE; GENETIC COUNSELING; GENETIC PREDISPOSITION TO DISEASE; HETEROZYGOTE; HUMANS; INDUCED PLURIPOTENT STEM CELLS; NEURODEVELOPMENTAL DISORDERS; PREGNANCY; PRENATAL DIAGNOSIS; RISK FACTORS; SCHIZOPHRENIA;

EID: 84958836351     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2015-103366     Document Type: Article

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