Literature DB >> 13763238

Hereditary renal dysplasia and blindness.

A C LOKEN, O HANSSEN, S HALVORSEN, N J JOLSTER.   

Abstract

Entities:  

Keywords:  BLINDNESS/in infancy and childhood; KIDNEY/abnormalities

Mesh：

Year:  1961        PMID： 13763238     DOI： 10.1111/j.1651-2227.1961.tb08037.x

Source DB:  PubMed          Journal:  Acta Paediatr        ISSN： 0365-1436            Impact factor:   2.299


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  48 in total

1.  Senior-Loken syndrome. Case reports of two siblings and association with sensorineural deafness.

Authors:  M P Clarke; T J Sullivan; C Francis; R Baumal; T Fenton; W G Pearce
Journal:  Br J Ophthalmol       Date:  1992-03       Impact factor: 4.638

2.  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

3.  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

4.  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

5.  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

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.  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

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 Bedouin kindred with infantile nephronophthisis demonstrates linkage to chromosome 9 by homozygosity mapping.

Authors:  N B Haider; R Carmi; H Shalev; V C Sheffield; D Landau
Journal:  Am J Hum Genet       Date:  1998-11       Impact factor: 11.025

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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