Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12

European Journal of Human Genetics

Volumn 18, Issue 3, 2010, Pages 278-284

  Nagamani, Sandesh Chakravarthy Sreenath ^a   Erez, Ayelet ^a   Shen, Joseph ^a   Li, Chumei ^b   Roeder, Elizabeth ^c   Cox, Sarah ^d   Karaviti, Lefkothea ^e   Pearson, Margret ^a   Kang, Sung Hae L ^f   Sahoo, Trilochan ^a   Lalani, Seema R ^a   Stankiewicz, Pawel ^a,g   Sutton, V Reid ^a   Cheung, Sau Wai ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b CHILDREN S HOSPITAL CENTRAL CALIFORNIA   (United States)

^c MCMASTER UNIVERSITY   (Canada)

^d UNIVERSITY OF TEXAS HEALTH SCIENCE CENTER AT SAN ANTONIO   (United States)

^e ST JOSEPH'S HOSPITAL AND MEDICAL CENTER   (United States)

^f Neonatology Associates   (United States)

^g INSTITUTE OF MOTHER AND CHILD   (Poland)

Author keywords

17q12; Cognitive impairment; Cystic renal disease; Genomic rearrangements; HNF1b; LHX1

Indexed keywords

CARBAMAZEPINE; PHENOBARBITAL; PHENYTOIN; VALPROIC ACID;

ADOLESCENT; ARTICLE; ARTIFICIAL VENTILATION; BEHAVIOR DISORDER; BRAIN MALFORMATION; CHILD; CHROMOSOME 17Q; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CLINICAL ARTICLE; COGNITIVE DEFECT; FEMALE; FETUS; FETUS ECHOGRAPHY; GRAND MAL SEIZURE; HUMAN; INFANT; KARYOTYPING; KIDNEY AGENESIS; KIDNEY DYSPLASIA; KIDNEY POLYCYSTIC DISEASE; KIDNEY TRANSPLANTATION; MALE; PERITONEAL DIALYSIS; PHENOTYPE; PRIORITY JOURNAL; RESPIRATORY DISTRESS; TONIC CLONIC SEIZURE;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 17; COHORT STUDIES; COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; GENE DUPLICATION; GENE REARRANGEMENT; GENOME, HUMAN; HEPATOCYTE NUCLEAR FACTOR 1-BETA; HUMANS; INFANT; INFANT, NEWBORN; MAGNETIC RESONANCE IMAGING; MALE; PHENOTYPE; PREGNANCY; RECURRENCE; YOUNG ADULT;

EID: 77149134317     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2009.174     Document Type: Article

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