Literature DB >> 24322977

Genetics: Causative genes identified in rare renal ciliopathies.

Rebecca Kirk.   

Abstract

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Year:  2013        PMID: 24322977     DOI: 10.1038/nrneph.2013.261

Source DB:  PubMed          Journal:  Nat Rev Nephrol        ISSN: 1759-5061            Impact factor:   28.314


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  1 in total

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

Authors:  Heon Yung Gee; Edgar A Otto; Toby W Hurd; Shazia Ashraf; Moumita Chaki; Andrew Cluckey; Virginia Vega-Warner; Pawaree Saisawat; Katrina A Diaz; Humphrey Fang; Stefan Kohl; Susan J Allen; Rannar Airik; Weibin Zhou; Gokul Ramaswami; Sabine Janssen; Clementine Fu; Jamie L Innis; Stefanie Weber; Udo Vester; Erica E Davis; Nicholas Katsanis; Hanan M Fathy; Nikola Jeck; Gunther Klaus; Ahmet Nayir; Khawla A Rahim; Ibrahim Al Attrach; Ibrahim Al Hassoun; Savas Ozturk; Dorota Drozdz; Udo Helmchen; John F O'Toole; Massimo Attanasio; Richard A Lewis; Gudrun Nürnberg; Peter Nürnberg; Joseph Washburn; James MacDonald; Jeffrey W Innis; Shawn Levy; Friedhelm Hildebrandt
Journal:  Kidney Int       Date:  2013-11-20       Impact factor: 10.612

  1 in total
  1 in total

1.  A Compound Heterozygous Mutation in the Ciliary Gene TTC21B Causes Nephronophthisis Type 12.

Authors:  Wafaa Moustafa M Abo El Fotoh; Amira Fathy Al-Fiky
Journal:  J Pediatr Genet       Date:  2019-11-04
  1 in total

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