Literature DB >> 14823504

[Familial, juvenile nephronophthisis (idiopathic parenchymal contracted kidney)].

G FANCONI, E HANHART, A von ALBERTINI, E UHLINGER, G DOLIVO, A PRADER.   

Abstract

Entities:  

Keywords:  KIDNEYS

Mesh：

Year:  1951        PMID： 14823504

Source DB:  PubMed          Journal:  Helv Paediatr Acta        ISSN： 0018-022X


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  42 in total

1.  Tubular insufficiency and renal dwarfism.

Authors:  G FANCONI
Journal:  Arch Dis Child       Date:  1954-02       Impact factor: 3.791

2.  Juvenile nephronophthisis associated with skeletal abnormalities and hepatic fibrosis.

Authors:  D G Robins; T A French; T M Chakera
Journal:  Arch Dis Child       Date:  1976-10       Impact factor: 3.791

3.  Identification of a new gene locus for adolescent nephronophthisis, on chromosome 3q22 in a large Venezuelan pedigree.

Authors:  H Omran; C Fernandez; M Jung; K Häffner; B Fargier; A Villaquiran; R Waldherr; N Gretz; M Brandis; F Rüschendorf; A Reis; F Hildebrandt
Journal:  Am J Hum Genet       Date:  2000-01       Impact factor: 11.025

4.  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

5.  A genetic linkage map of mouse chromosome 10: localization of eighteen molecular markers using a single interspecific backcross.

Authors:  M J Justice; L D Siracusa; D J Gilbert; N Heisterkamp; J Groffen; K Chada; C M Silan; N G Copeland; N A Jenkins
Journal:  Genetics       Date:  1990-08       Impact factor: 4.562

6.  Nephronophthisis.

Authors:  W Proesmans; B van Damme
Journal:  Arch Dis Child       Date:  1977-06       Impact factor: 3.791

Review 7.  Ciliopathies.

Authors:  Daniela A Braun; Friedhelm Hildebrandt
Journal:  Cold Spring Harb Perspect Biol       Date:  2017-03-01       Impact factor: 10.005

8.  Familial juvenile nephronophthisis, Jeune's syndrome, and associated disorders.

Authors:  M D Donaldson; A A Warner; R S Trompeter; G B Haycock; C Chantler
Journal:  Arch Dis Child       Date:  1985-05       Impact factor: 3.791

9.  A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution.

Authors:  Edgar Otto; Julia Hoefele; Rainer Ruf; Adelheid M Mueller; Karl S Hiller; Matthias T F Wolf; Maria J Schuermann; Achim Becker; Ralf Birkenhäger; Ralf Sudbrak; Hans C Hennies; Peter Nürnberg; Friedhelm Hildebrandt
Journal:  Am J Hum Genet       Date:  2002-08-29       Impact factor: 11.025

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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