Classic bladder exstrophy: Frequent 22q11.21 duplications and definition of a 414 kb phenocritical region

Birth Defects Research Part A - Clinical and Molecular Teratology

Volumn 100, Issue 6, 2014, Pages 512-517

  Draaken, Markus ^a   Baudisch, Friederike ^a   Timmermann, Bernd ^b   Kuhl, Heiner ^b   Kerick, Martin ^b   Proske, Judith ^b   Wittler, Lars ^b   Pennimpede, Tracie ^b   Ebert, Anne Karoline ^c   Rösch, Wolfgang ^d   Stein, Raimund ^e   Bartels, Enrika ^a   von Lowtzow, Catharina ^a   Boemers, Thomas M ^f   Herms, Stefan ^a,g   Gearhart, John P ^h   Lakshmanan, Yegappan ⁱ   Kockum, Christina Clementsson ^j   Holmdahl, Gundela ^k   Läckgren, Göran ^l   Nordenskjöld, Agnetha ^m,n   Boyadjiev, Simeon A ^o   Herrmann, Bernhard G ^b   Nöthen, Markus M ^a   Ludwig, Michael ^a   Reutter, Heiko ^a   more..

^a UNIVERSITY OF BONN   (Germany)

^b MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^c UNIVERSITY OF ULM   (Germany)

^d Barmherzige Brüder Hospital St Hedwig Regensburg   (Germany)

^e JOHANNES GUTENBERG UNIVERSITY   (Germany)

^f UNIVERSITY HOSPITAL OF COLOGNE   (Germany)

^g UNIVERSITY OF BASEL   (Switzerland)

^h JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

ⁱ CHILDREN'S HOSPITAL OF MICHIGAN   (United States)

^j LUND UNIVERSITY HOSPITAL   (Sweden)

^k QUEEN SILVIA CHILDREN'S HOSPITAL   (Sweden)

^l UNIVERSITY CHILDREN S HOSPITAL   (Sweden)

^m KAROLINSKA INSTITUTE   (Sweden)

ⁿ KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^o UNIVERSITY OF CALIFORNIA   (United States)

more..

Author keywords

Bladder exstrophy and epispadias complex (BEEC); Chromosome 22q11.2; Classic bladder exstrophy (CBE); Copy number variation; Duplication

Indexed keywords

COMPLEMENTARY RNA; CRK LIKE PROTEIN; LEUCINE ZIPPER PROTEIN; NONHISTONE PROTEIN; NUCLEAR PROTEIN; SIGNAL TRANSDUCING ADAPTOR PROTEIN; TRANSCRIPTION FACTOR;

ARTICLE; BLADDER EXSTROPHY; CASE CONTROL STUDY; CHROMOSOME ABERRATION; CHROMOSOME DELETION 22Q11; CONTROLLED STUDY; EMBRYO; EPISPADIAS; FEMALE; HUMAN; IN SITU HYBRIDIZATION; MAJOR CLINICAL STUDY; MALE; MICROARRAY ANALYSIS; MOUSE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NONHUMAN; PRIORITY JOURNAL; SEGMENTAL DUPLICATION; ANIMAL; ANIMAL EMBRYO; BLADDER; CHROMOSOME 22; CHROMOSOME DUPLICATION; DNA MICROARRAY; DNA SEQUENCE; GENETICS; PATHOLOGY; RISK; URETHRA;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ANIMALS; BLADDER EXSTROPHY; CASE-CONTROL STUDIES; CHROMOSOMAL PROTEINS, NON-HISTONE; CHROMOSOME DUPLICATION; CHROMOSOMES, HUMAN, PAIR 22; EMBRYO, MAMMALIAN; EPISPADIAS; FEMALE; HUMANS; IN SITU HYBRIDIZATION; MALE; MICE; NUCLEAR PROTEINS; ODDS RATIO; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; SEQUENCE ANALYSIS, DNA; TRANSCRIPTION FACTORS; URETHRA; URINARY BLADDER;

EID: 84903126733     PISSN: 15420752     EISSN: 15420760     Source Type: Journal    
DOI: 10.1002/bdra.23249     Document Type: Article

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