Isolated bladder exstrophy associated with a de novo 0.9 Mb microduplication on chromosome 19p13.12

Birth Defects Research Part A - Clinical and Molecular Teratology

Volumn 97, Issue 3, 2013, Pages 133-139

  Draaken, Markus ^a   Mughal, Sadaf S ^a   Pennimpede, Tracie ^b   Wolter, Stefanie ^b   Wittler, Lars ^b   Ebert, Anne Karoline ^c   Rösch, Wolfgang ^c   Stein, Raimund ^d   Bartels, Enrika ^a   Schmidt, Dominik ^a,e   Boemers, Thomas M ^f   Schmiedeke, Eberhard ^a,g   Hoffmann, Per ^a   Moebus, Susanne ^h   Herrmann, Bernhard G ^b   Nöthen, Markus M ^a   Reutter, Heiko ^a   Ludwig, Michael ^a  

^a UNIVERSITY OF BONN   (Germany)

^b MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^c Barmherzige Brüder Hospital St Hedwig Regensburg   (Germany)

^d JOHANNES GUTENBERG UNIVERSITY   (Germany)

^e CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^f UNIVERSITY HOSPITAL OF COLOGNE   (Germany)

^g Hospital Bremen Mitte   (Germany)

^h UNIVERSITY HOSPITAL ESSEN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; UNCLASSIFIED DRUG; WIZ PROTEIN; ZINC FINGER PROTEIN;

ANIMAL EXPERIMENT; ARTICLE; BLADDER EXSTROPHY; CHROMOSOME 19P13.12; CHROMOSOME ABERRATION; CHROMOSOME DUPLICATION; COHORT ANALYSIS; CONTROLLED STUDY; COPY NUMBER VARIATION; EMBRYO; EPISPADIAS; EXSTROPHY EPISPADIAS COMPLEX; GENE EXPRESSION; GENE MUTATION; GENE REARRANGEMENT; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC SCREENING; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; IN SITU HYBRIDIZATION; KARYOTYPING; MAJOR CLINICAL STUDY; MICROARRAY ANALYSIS; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RISK FACTOR;

ANIMALS; BASE SEQUENCE; BLADDER EXSTROPHY; CHROMOSOME DUPLICATION; CHROMOSOMES, HUMAN, PAIR 19; DNA COPY NUMBER VARIATIONS; GENE DOSAGE; GENE DUPLICATION; HUMANS; KARYOTYPE; MICE; SEQUENCE ANALYSIS, DNA; URINARY BLADDER;

MUS;

EID: 84875609818     PISSN: 15420752     EISSN: 15420760     Source Type: Journal    
DOI: 10.1002/bdra.23112     Document Type: Article

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