Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity-Reference-Cited by-同舟云学术

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

Published:2016-02 Issue:2 Volume:89 Page:468-475
ISSN:0085-2538
Container-title:Kidney International
language:en
Short-container-title:Kidney International

Author:

Braun Daniela A.,Schueler Markus,Halbritter Jan,Gee Heon Yung,Porath Jonathan D.,Lawson Jennifer A.,Airik Rannar,Shril Shirlee,Allen Susan J.,Stein Deborah,Al Kindy Adila,Beck Bodo B.,Cengiz Nurcan,Moorani Khemchand N.,Ozaltin Fatih,Hashmi Seema,Sayer John A.,Bockenhauer Detlef,Soliman Neveen A.,Otto Edgar A.,Lifton Richard P.,Hildebrandt Friedhelm

Publisher

Elsevier BV

Subject

Nephrology

Reference33 articles.

1. Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies;Gee;Kidney Int,2014

2. Increased renal parenchymal echogenicity: causes in pediatric patients;Kraus;Radiographics,1990

3. Correlation of renal histopathology with sonographic findings;Moghazi;Kidney Int,2005

4. Ciliopathies;Hildebrandt;N Engl J Med,2011

5. Nephronophthisis: disease mechanisms of a ciliopathy;Hildebrandt;J Am Soc Nephrol,2009

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