Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies

Kidney International

Volumn 85, Issue 4, 2014, Pages 880-887

  Gee, Heon Yung ^a   Otto, Edgar A ^b   Hurd, Toby W ^c   Ashraf, Shazia ^a   Chaki, Moumita ^b   Cluckey, Andrew ^b   Vega Warner, Virginia ^b   Saisawat, Pawaree ^b   Diaz, Katrina A ^b   Fang, Humphrey ^a   Kohl, Stefan ^a   Allen, Susan J ^b   Airik, Rannar ^a   Zhou, Weibin ^b   Ramaswami, Gokul ^b   Janssen, Sabine ^b   Fu, Clementine ^b   Innis, Jamie L ^b   Weber, Stefanie ^d   Vester, Udo ^d   Davis, Erica E ^e   Katsanis, Nicholas ^e   Fathy, Hanan M ^f   Jeck, Nikola ^g   Klaus, Gunther ^g   Nayir, Ahmet ^h   Rahim, Khawla A ⁱ   Attrach, Ibrahim Al ^j   Hassoun, Ibrahim Al ^k   Ozturk, Savas ^l   Drozdz, Dorota ^m   Helmchen, Udo ⁿ   O'toole, John F ^o   Attanasio, Massimo ^p   Lewis, Richard A ^q   Nürnberg, Gudrun ^r   Nürnberg, Peter ^r   Washburn, Joseph ^b   Macdonald, James ^s   Innis, Jeffrey W ^b,t   Levy, Shawn ^u   Hildebrandt, Friedhelm ^a,u   more..

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b UNIVERSITY OF MICHIGAN   (United States)

^c UNIVERSITY OF EDINBURGH   (United Kingdom)

^d UNIVERSITY OF DUISBURG ESSEN   (Germany)

^e DUKE UNIVERSITY MEDICAL CENTER   (United States)

^f ALEXANDRIA UNIVERSITY   (Egypt)

^g UNIVERSITY HOSPITAL MARBURG   (Germany)

^h ISTANBUL UNIVERSITY   (Turkey)

ⁱ KING FAHAD MEDICAL CITY   (Saudi Arabia)

^j UNITED ARAB EMIRATES UNIVERSITY   (United Arab Emirates)

^k KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^l BEZMIALEM VAKIF UNIVERSITY   (Turkey)

^m JAGIELLONIAN UNIVERSITY MEDICAL COLLEGE   (Poland)

ⁿ UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^o CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^p UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^q CULLEN EYE INSTITUTE   (United States)

^r UNIVERSITY OF COLOGNE   (Germany)

^s UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^t HUDSONALPHA INSTITUTE FOR BIOTECHNOLOGY   (United States)

^u HOWARD HUGHES MEDICAL INSTITUTE   (United States)

more..

Author keywords

Cystic kidney; Diagnosis; Genetic renal disease; Human genetics; Molecular genetics

Indexed keywords

ADULT; AGXT GENE; ARTICLE; CHRONIC KIDNEY DISEASE; CLINICAL FEATURE; EXOME; GENE; GENE DOSAGE; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC DISORDER; GENETIC VARIABILITY; HOMOZYGOSITY; HUMAN; KIDNEY CYST; KIDNEY DISEASE; MAJOR CLINICAL STUDY; MALE; NEPHRONOPHTHISIS RELATED CILIOPATHY; PHENOTYPE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SLC4A1 GENE; ADOLESCENT; EARLY DIAGNOSIS; GENETIC SCREENING; GENETICS; INFANT; KIDNEY DISEASES, CYSTIC; MUTATION; NUCLEOTIDE SEQUENCE; PROCEDURES; RECESSIVE GENE; YOUNG ADULT;

ADOLESCENT; ADULT; DNA MUTATIONAL ANALYSIS; EARLY DIAGNOSIS; EXOME; GENES, RECESSIVE; GENETIC TESTING; HUMANS; INFANT; KIDNEY DISEASES, CYSTIC; MALE; MUTATION; PHENOTYPE; YOUNG ADULT;

EID: 84897454034     PISSN: 00852538     EISSN: 15231755     Source Type: Journal    
DOI: 10.1038/ki.2013.450     Document Type: Article

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