Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity

Kidney International

Volumn 89, Issue 2, 2016, Pages 468-475

  Braun, Daniela A ^a   Schueler, Markus ^a   Halbritter, Jan ^a,b   Gee, Heon Yung ^a   Porath, Jonathan D ^a   Lawson, Jennifer A ^a   Airik, Rannar ^a   Shril, Shirlee ^a   Allen, Susan J ^c   Stein, Deborah ^a   Al Kindy, Adila ^d   Beck, Bodo B ^e   Cengiz, Nurcan ^f   Moorani, Khemchand N ^g   Ozaltin, Fatih ^h   Hashmi, Seema ⁱ   Sayer, John A ^j   Bockenhauer, Detlef ^k   Soliman, Neveen A ^l,m   Otto, Edgar A ^c   Lifton, Richard P ^n,o   Hildebrandt, Friedhelm ^a,o   more..

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b UNIVERSITY HOSPITAL LEIPZIG   (Germany)

^c UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^d SULTAN QABOOS UNIVERSITY HOSPITAL   (Oman)

^e UNIVERSITY OF COLOGNE   (Germany)

^f BASKENT UNIVERSITY   (Turkey)

^g NATIONAL INSTITUTE OF CHILD HEALTH   (Pakistan)

^h HACETTEPE UNIVERSITY   (Turkey)

ⁱ SINDH INSTITUTE OF UROLOGY AND TRANSPLANTATION   (Pakistan)

^j NEWCASTLE UNIVERSITY   (United Kingdom)

^k UNIVERSITY COLLEGE LONDON   (United Kingdom)

^l CAIRO UNIVERSITY   (Egypt)

^m Egyptian Group for Orphan Renal Diseases EGORD   (Egypt)

ⁿ YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^o HOWARD HUGHES MEDICAL INSTITUTE   (United States)

more..

Author keywords

chronic kidney disease; genetic kidney disease; pediatric nephrology

Indexed keywords

ALPORT SYNDROME; ARTICLE; AUTOIMMUNE POLYENDOCRINOPATHY CANDIDIASIS ECTODERMAL DYSTROPHY; CONSANGUINITY; CONTROLLED STUDY; ECHOGRAPHY; EXOME; FAM186B GENE; FAMILIAL DISEASE; GENE; GENE IDENTIFICATION; GENE MUTATION; GENETIC ASSOCIATION; HOMOZYGOSITY; HUMAN; INCENP GENE; KIDNEY POLYCYSTIC DISEASE; KIDNEY TUBULE DISORDER; MAJOR CLINICAL STUDY; NEPHRONOPHTHISIS; ONSET AGE; PIAS1 GENE; PRIORITY JOURNAL; RBM48 GENE; RCOR1 GENE; RENAL ECHOGENICITY; SEQUENCE ANALYSIS; CHRONIC KIDNEY FAILURE; COHORT ANALYSIS; DIAGNOSTIC IMAGING; DNA MUTATIONAL ANALYSIS; GENETICS; KIDNEY DISEASES, CYSTIC;

AGE OF ONSET; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; EXOME; HUMANS; KIDNEY DISEASES, CYSTIC; RENAL INSUFFICIENCY, CHRONIC;

EID: 84944937498     PISSN: 00852538     EISSN: 15231755     Source Type: Journal    
DOI: 10.1038/ki.2015.317     Document Type: Article

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