Literature DB >> 13910672

Juvenile familial nephropathy with tapetoretinal degeneration. A new oculorenal dystrophy.

B SENIOR, A I FRIEDMANN, J L BRAUDO.   

Abstract

Entities:  

Keywords:  KIDNEY DISEASES/in infancy and childhood; RETINA/pathology

Mesh：

Year:  1961        PMID： 13910672     DOI： 10.1016/0002-9394(61)90147-7

Source DB:  PubMed          Journal:  Am J Ophthalmol        ISSN： 0002-9394            Impact factor:   5.258


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  62 in total

1.  Congenital retinal dystrophies: a study of early cognitive and visual development.

Authors:  M M Black; P M Sonksen
Journal:  Arch Dis Child       Date:  1992-03       Impact factor: 3.791

2.  Juvenile nephronophthisis associated with retinal pigmentary dystrophy, cerebellar ataxia, and skeletal abnormalities.

Authors:  M Popović-Rolović; N Calić-Perisíc; G Bunjevacki; D Negovanović
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.  A novel locus for Leber congenital amaurosis maps to chromosome 6q.

Authors:  S Dharmaraj; Y Li; J M Robitaille; E Silva; D Zhu; T N Mitchell; L P Maltby; A B Baffoe-Bonnie; I H Maumenee
Journal:  Am J Hum Genet       Date:  2000-01       Impact factor: 11.025

5.  Autofluorescence and High-Resolution OCT Findings Revealed Ciliopathy in Senior-Loken Syndrome.

Authors:  Wener Cella; Luiz H Lima; Nan-Kai Wang; Joaquin Tosi; Lawrence A Yannuzzi; Stephen H Tsang
Journal:  Ophthalmic Surg Lasers Imaging       Date:  2010-03-09

6.  Analysis and classification of cerebellar malformations.

Authors:  Sandeep Patel; A James Barkovich
Journal:  AJNR Am J Neuroradiol       Date:  2002-08       Impact factor: 3.825

7.  Infantile chronic tubulo-interstitial nephritis with cortical microcysts: variant of nephronophthisis or new disease entity?

Authors:  M F Gagnadoux; J L Bacri; M Broyer; R Habib
Journal:  Pediatr Nephrol       Date:  1989-01       Impact factor: 3.714

8.  Identification of the human CYS1 gene and candidate gene analysis in Boichis disease.

Authors:  Manfred Fliegauf; Christian Fröhlich; Judit Horvath; Heike Olbrich; Friedhelm Hildebrandt; Heymut Omran
Journal:  Pediatr Nephrol       Date:  2003-05-06       Impact factor: 3.714

9.  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

10.  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
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