Literature DB >> 16782989

Nephronophthisis related to homozygous NPHP1 gene deletion as a cause of chronic renal failure in adults.

Guillaume Bollée1, Fadi Fakhouri, Alexandre Karras, Laure-Hélène Noël, Rémi Salomon, Aude Servais, Philippe Lesavre, Vincent Morinière, Corinne Antignac, Aurélie Hummel.   

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Year:  2006        PMID： 16782989     DOI： 10.1093/ndt/gfl348

Source DB:  PubMed          Journal:  Nephrol Dial Transplant        ISSN： 0931-0509            Impact factor:   5.992


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  17 in total

1.  Post renal transplant type 2 diabetes mellitus in a case of familial juvenile nephrophthisis.

Authors:  Mihaela Balgradean; Eliza Cinteza; Dumitru Ferechide
Journal:  Maedica (Bucur)       Date:  2013-03

2.  Nephronophthisis.

Authors:  Roslyn J Simms; Lorraine Eley; John A Sayer
Journal:  Eur J Hum Genet       Date:  2008-12-10       Impact factor: 4.246

3.  Ohnologs are overrepresented in pathogenic copy number mutations.

Authors:  Aoife McLysaght; Takashi Makino; Hannah M Grayton; Maria Tropeano; Kevin J Mitchell; Evangelos Vassos; David A Collier
Journal:  Proc Natl Acad Sci U S A       Date:  2013-12-24       Impact factor: 11.205

4.  NPHP1 (Nephrocystin-1) Gene Deletions Cause Adult-Onset ESRD.

Authors:  Rozemarijn Snoek; Jessica van Setten; Brendan J Keating; Ajay K Israni; Pamala A Jacobson; William S Oetting; Arthur J Matas; Roslyn B Mannon; Zhongyang Zhang; Weijia Zhang; Ke Hao; Barbara Murphy; Roman Reindl-Schwaighofer; Andreas Heinzl; Rainer Oberbauer; Ondrej Viklicky; Peter J Conlon; Caragh P Stapleton; Stephan J L Bakker; Harold Snieder; Edith D J Peters; Bert van der Zwaag; Nine V A M Knoers; Martin H de Borst; Albertien M van Eerde
Journal:  J Am Soc Nephrol       Date:  2018-04-13       Impact factor: 10.121

5.  Diverse phenotypic expression of NPHP4 mutations in four siblings.

Authors:  Sevcan A Bakkaloğlu; Yaşar Kandur; Tuğba Bedir-Demirdağ; İpek Işık-Gönül; Friedhelm Hildebrandt
Journal:  Turk J Pediatr       Date:  2014 Jul-Aug       Impact factor: 0.552

6.  The Senior-Loken syndrome: Two cases from the State of Qatar.

Authors:  Muftah Othman; Awad Rashed; Adel Bakr
Journal:  J Clin Diagn Res       Date:  2012-10

7.  Gene mutation analysis in Iranian children with nephronophthisis: a two-center study.

Authors:  Alaleh Gheissari; Maryam Harandavar; Friedhelm Hildebrandt; Daniela A Braun; Maryam Sedghi; Nastaran Parsi; Alireza Merrikhi; Yahya Madihi; Farzaneh Aghamohammadi
Journal:  Iran J Kidney Dis       Date:  2015-03       Impact factor: 0.892

Review 8.  Nephronophthisis.

Authors:  Matthias T F Wolf; Friedhelm Hildebrandt
Journal:  Pediatr Nephrol       Date:  2010-07-22       Impact factor: 3.714

9.  Genetic Background and Clinicopathologic Features of Adult-onset Nephronophthisis.

Authors:  Takuya Fujimaru; Kunio Kawanishi; Takayasu Mori; Eikan Mishima; Akinari Sekine; Motoko Chiga; Masayuki Mizui; Noriaki Sato; Motoko Yanagita; Yuki Ooki; Kiyotaka Nagahama; Yuko Ohnuki; Naoto Hamano; Saki Watanabe; Toshio Mochizuki; Katsushi Nagatsuji; Kenichi Tanaka; Tatsuo Tsukamoto; Hideo Tsushima; Mamiko Shimamoto; Takahiro Tsuji; Tamaki Kuyama; Shinya Kawamoto; Kenji Maki; Ai Katsuma; Mariko Oishi; Kouhei Yamamoto; Shintaro Mandai; Hiroaki Kikuchi; Fumiaki Ando; Yutaro Mori; Koichiro Susa; Soichiro Iimori; Shotaro Naito; Tatemitsu Rai; Junichi Hoshino; Yoshifumi Ubara; Mariko Miyazaki; Michio Nagata; Shinichi Uchida; Eisei Sohara
Journal:  Kidney Int Rep       Date:  2021-03-04

Review 10.  Nephronophthisis.

Authors:  Rémi Salomon; Sophie Saunier; Patrick Niaudet
Journal:  Pediatr Nephrol       Date:  2008-07-08       Impact factor: 3.714
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