De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association

European Journal of Human Genetics

Volumn 21, Issue 12, 2013, Pages 1377-1382

  Hilger, Alina ^a,b   Schramm, Charlotte ^a   Pennimpede, Tracie ^c   Wittler, Lars ^c   Dworschak, Gabriel C ^a   Bartels, Enrika ^a   Engels, Hartmut ^a   Zink, Alexander M ^a   Degenhardt, Franziska ^a   Müller, Annette M ^a   Schmiedeke, Eberhard ^d   Grasshoff Derr, Sabine ^e   Märzheuser, Stefanie ^f   Hosie, Stuart ^g   Holland Cunz, Stefan ^h   Wijers, Charlotte Hw ⁱ   Marcelis, Carlo Lm ^j   Van Rooij, Iris Alm ⁱ   Hildebrandt, Friedhelm ^b,k   Herrmann, Bernhard G ^c,f   Nöthen, Markus M ^a   Ludwig, Michael ^a   Reutter, Heiko ^a   Draaken, Markus ^a   more..

^a UNIVERSITY OF BONN   (Germany)

^b UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^c MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^d Hospital Bremen Mitte   (Germany)

^e UNIVERSITY HOSPITAL WÜRZBURG   (Germany)

^f CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^g TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^h UNIVERSITY OF HEIDELBERG   (Germany)

ⁱ RADBOUD UNIVERSITY NIJMEGEN   (Netherlands)

^j RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^k HOWARD HUGHES MEDICAL INSTITUTE   (United States)

more..

Author keywords

candidate genes; CNV analysis; GPR35; microaberrations; SNP array; VATER VACTERL association

Indexed keywords

ARTICLE; CAPN10 GENE; CHROMOSOME 1Q; CHROMOSOME 2Q; CHROMOSOME 8Q; CHROMOSOME DUPLICATION; COPY NUMBER VARIATION; EMBRYO; EPPK1 GENE; FEMALE; FOLLOW UP; GENE EXPRESSION; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GPR35 GENE; HUMAN; KARYOTYPING; LIMB DEFECT; MAJOR CLINICAL STUDY; MALE; MOUSE; NONHUMAN; PARP10 GENE; PHENOTYPE; PLEC GENE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SPATA17 GENE; SYNDROME VATER;

FISTULA;

ABNORMALITIES, MULTIPLE; ANAL CANAL; ANIMALS; ANUS, IMPERFORATE; DNA COPY NUMBER VARIATIONS; ESOPHAGUS; FEMALE; HEART DEFECTS, CONGENITAL; HUMANS; KARYOTYPING; KIDNEY; LIMB DEFORMITIES, CONGENITAL; MALE; MICE; RADIUS; RECEPTORS, G-PROTEIN-COUPLED; SPINE; TRACHEA;

EID: 84887627106     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2013.58     Document Type: Article

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