Genetic screening

Epidemiologic Reviews

Volumn 33, Issue 1, 2011, Pages 148-164

  Burke, Wylie ^a   Tarini, Beth ^b   Press, Nancy A ^c,d   Evans, James P ^e  

^a UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^c OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^d OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^e UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

Author keywords

genetic testing; genetics, medical; genomics; heterozygote detection; neonatal screening; prenatal diagnosis

Indexed keywords

ANTIBIOTIC AGENT; HYDROXYUREA; TRANSMEMBRANE CONDUCTANCE REGULATOR;

3 HYDROXY 3 METHYLGLUTARIC ACIDURIA; 3 METHYL CROTONYL COENZYME A CARBOXYLASE DEFICIENCY; ACIDEMIA; AMNIOCENTESIS; ARGININOSUCCINIC ACIDEMIA; ARTICLE; BETA KETOTHIOLASE DEFICIENCY; BETA THALASSEMIA; BIOTINIDASE DEFICIENCY; BLOOD TRANSFUSION; BONE MARROW TRANSPLANTATION; CANCER SCREENING; CARNITINE UPTAKE DEFECT; CARRIER SCREENING; CHELATION THERAPY; CHROMOSOME ANALYSIS; CITRULLINEMIA; COGNITIVE DEFECT; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL ADRENAL HYPERPLASIA; CONGENITAL HYPOTHYROIDISM; CONSERVATIVE TREATMENT; CYSTIC FIBROSIS; DIAGNOSTIC ERROR; DIET THERAPY; DISORDERS OF CARBOHYDRATE METABOLISM; DOWN SYNDROME; FALSE POSITIVE RESULT; FAMILY PLANNING; FATTY ACID OXIDATION; FOLLOW UP; GALACTOSEMIA; GENE SEQUENCE; GENETIC DISORDER; GENETIC SCREENING; GENETIC SUSCEPTIBILITY; GENETIC TRAIT; GENOMICS; GROWTH DISORDER; HEALTH CARE; HEALTH CARE QUALITY; HEALTH EDUCATION; HEARING LOSS; HEMOGLOBIN SC DISEASE; HEMOGLOBINOPATHY; HOMOCYSTINURIA; HUMAN; HYPERPHENYLALANINEMIA; INCIDENCE; ISOVALERIC ACADEMIA; LONG CHAIN 3 OH ACYL COENZYME A DEHYDROGENASE DEFICIENCY; LUNG TRANSPLANTATION; MAPLE SYRUP URINE DISEASE; MEDICOLEGAL ASPECT; MEDIUM CHAIN ACYL COENZYME A DEHYDROGENASE DEFICIENCY; METABOLIC DISORDER; METABOLITE; METHYLMALONIC ACIDEMIA; MULTIPLE ACYL COA DEHYDROGENASE DEFICIENCY; NERVOUS SYSTEM DEVELOPMENT; NEURAL TUBE DEFECT; NEWBORN; NEWBORN SCREENING; ONCOGENE; PHENYLKETONURIA; PRACTICE GUIDELINE; PREGNANCY TERMINATION; PRENATAL SCREENING; PRIMARY MEDICAL CARE; PRIORITY JOURNAL; PROPIONIC ACIDEMIA; PUBLIC HEALTH; PUBLIC HEALTH SERVICE; RANDOMIZED CONTROLLED TRIAL (TOPIC); SCREENING; SCREENING TEST; SICKLE CELL ANEMIA; SICKLE CELL BETA THALASSEMIA; SPINAL MUSCULAR ATROPHY; TANDEM MASS SPECTROMETRY; TAY SACHS DISEASE; TRIFUNCTIONAL PROTEIN DEFICIENCY; TYROSINEMIA; VERY LONG CHAIN ACYL COENZYME A DEHYDROGENASE DEFICIENCY; WHOLE EXOME SEQUENCING; WHOLE GENOME SEQUENCING;

DIAGNOSTIC ERRORS; DOWN SYNDROME; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HETEROZYGOTE DETECTION; HUMANS; INFANT, NEWBORN; MASS SCREENING; PREGNANCY; PRENATAL DIAGNOSIS; PRIMARY HEALTH CARE;

EID: 79960534601     PISSN: 0193936X     EISSN: 14786729     Source Type: Journal    
DOI: 10.1093/epirev/mxr008     Document Type: Article

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