Recurrent duplications of 17q12 associated with variable phenotypes

American Journal of Medical Genetics, Part A

Volumn 167, Issue 12, 2015, Pages 3038-3045

  Mitchell, Elyse ^a   Douglas, Andrew ^b   Kjaegaard, Susanne ^c   Callewaert, Bert ^d   Vanlander, Arnaud ^d   Janssens, Sandra ^d   Yuen, Amy Lawson ^e   Skinner, Cindy ^f   Failla, Pinella ^g   Alberti, Antonino ^g   Avola, Emanuela ^g   Fichera, Marco ^g,h   Kibaek, Maria ⁱ   Digilio, Maria C ^j   Hannibal, Mark C ^k   den Hollander, Nicolette S ^l   Bizzarri, Veronica ^m   Renieri, Alessandra ^m   Mencarelli, Maria Antonietta ^m   Fitzgerald, Tomas ⁿ   Piazzolla, Serena ⁿ   van Oudenhove, Elke ⁿ   Romano, Corrado ^g   Schwartz, Charles ^f   Eichler, Evan E ^o   Slavotinek, Anne ^p   Escobar, Luis ^q   Rajan, Diana ⁿ   Crolla, John ^r   Carter, Nigel ⁿ   Hodge, Jennelle C ^a,s   Mefford, Heather C ^t   more..

^a MAYO CLINIC   (United States)

^b PRINCESS ANNE HOSPITAL   (United Kingdom)

^c University of Copenhagen   (Denmark)

^d GHENT UNIVERSITY HOSPITAL   (Belgium)

^e Multicare Health System   (United States)

^f GREENWOOD GENETIC CENTER   (United States)

^g OASI RESEARCH INSTITUTE IRCCS   (Italy)

^h UNIVERSITY OF CATANIA   (Italy)

ⁱ ODENSE UNIVERSITY HOSPITAL   (Denmark)

^j BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^k UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^l LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^m UNIVERSITY OF SIENA   (Italy)

ⁿ WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^o HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^p UNIVERSITY OF CALIFORNIA   (United States)

^q Payton Manning Children's Hospital   (United States)

^r SALISBURY DISTRICT HOSPITAL   (United Kingdom)

^s CEDARS SINAI MEDICAL CENTER   (United States)

^t UNIVERSITY OF WASHINGTON   (United States)

more..

Author keywords

CNV; Duplication; Genotype phenotype

Indexed keywords

OLIGONUCLEOTIDE;

ARTICLE; ASTIGMATISM; BEHAVIOR; BODY HEIGHT; BODY WEIGHT; CATARACT; CHROMOSOME 17; CLINICAL ARTICLE; CLINICAL FEATURE; COLOBOMA; CONTROLLED STUDY; DISEASE SEVERITY; DNA MODIFICATION; EYE DISEASE; FUNNEL CHEST; GENE DELETION; GENE DUPLICATION; GENETIC IDENTIFICATION; GROWTH; HEART DISEASE; HUMAN; HYPOSPADIAS; LEARNING DISORDER; MICROCEPHALY; MICROPHTHALMIA; MOSAICISM; PHENOTYPE; PRIORITY JOURNAL; PYLORUS STENOSIS; SCOLIOSIS; TRACHEOMALACIA; ABNORMALITIES; ADOLESCENT; CHILD; CHROMOSOME DUPLICATION; COPY NUMBER VARIATION; DEVELOPMENTAL DISORDER; FACE; FEMALE; GENETICS; INFANT; MALE; MULTIPLE MALFORMATION SYNDROME; PRESCHOOL CHILD; YOUNG ADULT;

ABNORMALITIES, MULTIPLE; ADOLESCENT; CHILD; CHILD, PRESCHOOL; CHROMOSOME DUPLICATION; DEVELOPMENTAL DISABILITIES; DNA COPY NUMBER VARIATIONS; FACE; FEMALE; HUMANS; INFANT; MALE; MICROCEPHALY; PHENOTYPE; YOUNG ADULT;

EID: 84959361371     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.37351     Document Type: Article

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