Copy-number disorders are a common cause of congenital kidney malformations

American Journal of Human Genetics

Volumn 91, Issue 6, 2012, Pages 987-997

  Sanna Cherchi, Simone ^a,b   Kiryluk, Krzysztof ^a   Burgess, Katelyn E ^a   Bodria, Monica ^c   Sampson, Matthew G ^d   Hadley, Dexter ^d   Nees, Shannon N ^a   Verbitsky, Miguel ^a   Perry, Brittany J ^a   Sterken, Roel ^a   Lozanovski, Vladimir J ^e   Materna Kiryluk, Anna ^f   Barlassina, Cristina ^g,h   Kini, Akshata ^d   Corbani, Valentina ⁱ   Carrea, Alba ^c   Somenzi, Danio ^j   Murtas, Corrado ^c   Ristoska Bojkovska, Nadica ^e   Izzi, Claudia ^k   Bianco, Beatrice ^j   Zaniew, Marcin ^l   Flogelova, Hana ^m   Weng, Patricia L ^a   Kacak, Nilgun ^a   Giberti, Stefania ^j   Gigante, Maddalena ⁿ   Arapovic, Adela ^o   Drnasin, Kristina ^p   Caridi, Gianluca ^c   Curioni, Simona ^g   Allegri, Franca ^j   Ammenti, Anita ^j   Ferretti, Stefania ^q   Goj, Vinicio ^r   Bernardo, Luca ^r   Jobanputra, Vaidehi ^a   Chung, Wendy K ^a   Lifton, Richard P ^s   Sanders, Stephan ^s   State, Matthew ^s   Clark, Lorraine N ^t   Saraga, Marijan ^o,u   Padmanabhan, Sandosh ^v   Dominiczak, Anna F ^v   Foroud, Tatiana ^w   Gesualdo, Loreto ⁿ   Gucev, Zoran ^e   Allegri, Landino ^j   Latos Bielenska, Anna ^f   Cusi, Daniele ^g   Scolari, Francesco ^k   Tasic, Velibor ^e   Hakonarson, Hakon ^d   Ghiggeri, Gian Marco ^c   Gharavi, Ali G ^a   more..

^a Och Spine at New York Presbyterian Hospitals   (United States)

^b ST LUKE S ROOSEVELT HOSPITAL CENTER   (United States)

^c G GASLINI INSTITUTE   (Italy)

^d UNIVERSITY OF PENNSYLVANIA   (United States)

^e UNIVERSITY CHILDREN S HOSPITAL   (Macedonia)

^f Polish Registry of Congenital Malformations   (Poland)

^g SAN PAOLO HOSPITAL   (Italy)

^h UNIVERSITY OF MILAN   (Italy)

ⁱ SAPIENZA UNIVERSITY OF ROME   (Italy)

^j UNIVERSITY OF PARMA   (Italy)

^k UNIVERSITY OF BRESCIA   (Italy)

^l Department of Pediatrics Nephrology and Toxicology   (Poland)

^m PALACKÝ UNIVERSITY   (Czech Republic)

ⁿ UNIVERSITY OF FOGGIA   (Italy)

^o UNIVERSITY HOSPITAL SPLIT   (Croatia)

^p Pediatric Outpatient Clinic   (Croatia)

^q UNIVERSITY HOSPITAL OF PARMA   (Italy)

^r FATEBENEFRATELLI HOSPITAL   (Italy)

^s YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^t NewYork Presbyterian Hospital   (United States)

^u UNIVERSITY OF SPLIT   (Croatia)

^v UNIVERSITY OF GLASGOW   (United Kingdom)

^w INDIANA UNIVERSITY   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; COPY NUMBER VARIATION; DIGEORGE SYNDROME; GENE; GENE DELETION; GENE DISRUPTION; GENE LOCUS; GENETIC TRAIT; HNF1B GENE; HUMAN; KIDNEY AGENESIS; KIDNEY DYSPLASIA; KIDNEY MALFORMATION; MAJOR CLINICAL STUDY; MOLECULAR DIAGNOSIS; PRIORITY JOURNAL; VELOCARDIOFACIAL SYNDROME;

CASE-CONTROL STUDIES; CHROMOSOME ABERRATIONS; DNA COPY NUMBER VARIATIONS; GENETIC ASSOCIATION STUDIES; GENOTYPE; HUMANS; KIDNEY DISEASES; MOLECULAR SEQUENCE ANNOTATION;

EID: 84870891672     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2012.10.007     Document Type: Article

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