Exome sequencing positively identified relevant alterations in more than half of cases with an indication of prenatal ultrasound anomalies

Prenatal Diagnosis

Volumn 35, Issue 11, 2015, Pages 1073-1078

  Alamillo, Christina L ^a   Powis, Zöe ^a   Farwell, Kelly ^a   Shahmirzadi, Layla ^a   Weltmer, Elaine C ^a   Turocy, John ^b   Lowe, Thomas ^c   Kobelka, Christine ^b   Chen, Emily ^b   Basel, Donald ^d   Ashkinadze, Elena ^e   D'Augelli, Lisa ^f   Chao, Elizabeth ^a,g   Tang, Sha ^a  

^a AMBRY GENETICS   (United States)

^b KAISER PERMANENTE   (United States)

^c Thomas Lowe MD Private Practice   (United States)

^d MEDICAL COLLEGE OF WISCONSIN   (United States)

^e ROBERT WOOD JOHNSON MEDICAL SCHOOL   (United States)

^f Integrated Genetics   (United States)

^g UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AKINESIA; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CLINICAL ARTICLE; DYSOSTOSIS; EXOME; FEMALE; FETUS; FETUS ECHOGRAPHY; FETUS MALFORMATION; GENE SEQUENCE; GLYCOGEN STORAGE DISEASE; HUMAN; MALE; OSTEOGENESIS IMPERFECTA; PREGNANCY TERMINATION; PRIORITY JOURNAL; RETROSPECTIVE STUDY; ARTHROGRYPOSIS; CONGENITAL DISORDER; DNA SEQUENCE; ECHOGRAPHY; FETUS DEATH; GENETIC SCREENING; GENETICS; GLYCOGEN STORAGE DISEASE TYPE 4; INDUCED ABORTION; MULTIPLE MALFORMATION SYNDROME; MUTATION; PREGNANCY;

COL1A2 PROTEIN, HUMAN; COLLAGEN TYPE 1; GBE1 PROTEIN, HUMAN; GLYCOGEN DEBRANCHING ENZYME; OFD1 PROTEIN, HUMAN; PROTEIN;

ABNORMALITIES, MULTIPLE; ABORTION, INDUCED; ARTHROGRYPOSIS; COLLAGEN TYPE I; CONGENITAL ABNORMALITIES; EXOME; FEMALE; FETAL DEATH; GENETIC TESTING; GLYCOGEN DEBRANCHING ENZYME SYSTEM; GLYCOGEN STORAGE DISEASE TYPE IV; HUMANS; MALE; MUTATION; OROFACIODIGITAL SYNDROMES; OSTEOGENESIS IMPERFECTA; PREGNANCY; PROTEINS; RETROSPECTIVE STUDIES; SEQUENCE ANALYSIS, DNA; ULTRASONOGRAPHY, PRENATAL;

EID: 84945477018     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.4648     Document Type: Article

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