Literature DB >> 16362164

Nephronophthisis: diagnostic difficulties and recent advances in molecular genetic diagnostics.

Atsushi Komatsuda1, Hideki Wakui2.   

Abstract

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Year:  2005        PMID： 16362164     DOI： 10.1007/s10157-005-0383-6

Source DB:  PubMed          Journal:  Clin Exp Nephrol        ISSN： 1342-1751            Impact factor:   2.801


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  11 in total

1.  Cerebellar and brainstem involvement in familial juvenile nephronophthisis type I.

Authors:  Kyoko Takano; Tetsu Nakamoto; Maki Okajima; Akira Sudo; Kimiaki Uetake; Shinji Saitoh
Journal:  Pediatr Neurol       Date:  2003-02       Impact factor: 3.372

2.  A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1.

Authors:  F Hildebrandt; E Otto; C Rensing; H G Nothwang; M Vollmer; J Adolphs; H Hanusch; M Brandis
Journal:  Nat Genet       Date:  1997-10       Impact factor: 38.330

3.  Nephronophthisis in two siblings.

Authors:  Mamiko Ashizawa; Masanobu Miyazaki; Akira Furusu; Katsushige Abe; Yasuhide Kanamoto; Nobuaki Iwanaga; Yoshiyuki Ozono; Takashi Harada; Takashi Taguchi; Shigeru Kohno
Journal:  Clin Exp Nephrol       Date:  2005-12       Impact factor: 2.801

4.  Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin.

Authors:  Edgar A Otto; Bart Loeys; Hemant Khanna; Jan Hellemans; Ralf Sudbrak; Shuling Fan; Ulla Muerb; John F O'Toole; Juliana Helou; Massimo Attanasio; Boris Utsch; John A Sayer; Concepcion Lillo; David Jimeno; Paul Coucke; Anne De Paepe; Richard Reinhardt; Sven Klages; Motoyuki Tsuda; Isao Kawakami; Takehiro Kusakabe; Heymut Omran; Anita Imm; Melissa Tippens; Pamela A Raymond; Jo Hill; Phil Beales; Shirley He; Andreas Kispert; Benjamin Margolis; David S Williams; Anand Swaroop; Friedhelm Hildebrandt
Journal:  Nat Genet       Date:  2005-02-20       Impact factor: 38.330

5.  Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis.

Authors:  Julia Hoefele; Ralf Sudbrak; Richard Reinhardt; Silvia Lehrack; Steffen Hennig; Anita Imm; Ulla Muerb; Boris Utsch; Massimo Attanasio; John F O'Toole; Edgar Otto; Friedhelm Hildebrandt
Journal:  Hum Mutat       Date:  2005-04       Impact factor: 4.878

Review 6.  Nephronophthisis.

Authors:  Sophie Saunier; Rémi Salomon; Corinne Antignac
Journal:  Curr Opin Genet Dev       Date:  2005-06       Impact factor: 5.578

7.  The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin.

Authors:  Géraldine Mollet; Rémi Salomon; Olivier Gribouval; Flora Silbermann; Delphine Bacq; Gilbert Landthaler; David Milford; Ahmet Nayir; Gianfranco Rizzoni; Corinne Antignac; Sophie Saunier
Journal:  Nat Genet       Date:  2002-09-09       Impact factor: 38.330

8.  Establishing an algorithm for molecular genetic diagnostics in 127 families with juvenile nephronophthisis.

Authors:  F Hildebrandt; C Rensing; R Betz; U Sommer; S Birnbaum; A Imm; H Omran; M Leipoldt; E Otto
Journal:  Kidney Int       Date:  2001-02       Impact factor: 10.612

9.  Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis.

Authors:  Heike Olbrich; Manfred Fliegauf; Julia Hoefele; Andreas Kispert; Edgar Otto; Andreas Volz; Matthias T Wolf; Gürsel Sasmaz; Ute Trauer; Richard Reinhardt; Ralf Sudbrak; Corinne Antignac; Norbert Gretz; Gerd Walz; Bernhard Schermer; Thomas Benzing; Friedhelm Hildebrandt; Heymut Omran
Journal:  Nat Genet       Date:  2003-08       Impact factor: 38.330

10.  Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination.

Authors:  Edgar A Otto; Bernhard Schermer; Tomoko Obara; John F O'Toole; Karl S Hiller; Adelheid M Mueller; Rainer G Ruf; Julia Hoefele; Frank Beekmann; Daniel Landau; John W Foreman; Judith A Goodship; Tom Strachan; Andreas Kispert; Matthias T Wolf; Marie F Gagnadoux; Hubert Nivet; Corinne Antignac; Gerd Walz; Iain A Drummond; Thomas Benzing; Friedhelm Hildebrandt
Journal:  Nat Genet       Date:  2003-08       Impact factor: 38.330
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  2 in total

1.  Nephronophthisis complicated with hepatic fibrosis: an autopsy case with rupture of the splenic artery after renal transplantation.

Authors:  Tatsuo Tsukamoto; Mari Tanaka; Toshiyuki Komiya; Shugo Ueda; Kosho Takasu; Shiro Takahara; Akio Koizumi; Eri Muso
Journal:  Clin Exp Nephrol       Date:  2008-01-05       Impact factor: 2.801

Review 2.  The diagnostic value of ultrasound in cystic kidney diseases.

Authors:  Udo Vester; Birgitta Kranz; Peter F Hoyer
Journal:  Pediatr Nephrol       Date:  2008-09-23       Impact factor: 3.714
  2 in total

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