Literature DB >> 7072145

The nephronophthisis complex. A clinicopathologic study in children.

R Waldherr, T Lennert, H P Weber, H J Födisch, K Schärer.   

Abstract

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Mesh：

Year:  1982        PMID： 7072145     DOI： 10.1007/bf00430668

Source DB:  PubMed          Journal:  Virchows Arch A Pathol Anat Histol        ISSN： 0340-1227


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  61 in total

1.  A case of Fanconi's familial juvenile nephronophthisis.

Authors:  C HOOFT; H ROELS; J HERPOL
Journal:  Helv Paediatr Acta       Date:  1959-09

2.  Juvenile nephronophthisis.

Authors:  P R Betts; I Forrest-Hay
Journal:  Lancet       Date:  1973-09-01       Impact factor: 79.321

3.  Red and blonde hair in renal medullary cystic disease.

Authors:  E J Rayfield; F D McDonald
Journal:  Arch Intern Med       Date:  1972-07

4.  Acquired cystic disease of the kidneys: a hazard of long-term intermittent maintenance haemodialysis.

Authors:  M S Dunnill; P R Millard; D Oliver
Journal:  J Clin Pathol       Date:  1977-09       Impact factor: 3.411

5.  Familial interstitial nephritis.

Authors:  G A Coles; K Robinson; R A Branch
Journal:  Clin Nephrol       Date:  1976-12       Impact factor: 0.975

6.  Cystic disease of the renal medulla associated with retinitis pigmentosa and imino acid abnormalities.

Authors:  W M Bennett; N M Simon; A E Krill; R F Weinstein; F A Carone
Journal:  Clin Nephrol       Date:  1975-07       Impact factor: 0.975

7.  Senior-Loken syndrome (nephronophthisis and tapeto-retinal degeneration): a study of 8 cases from 5 families.

Authors:  J P Fillastre; J Guenel; P Riberi; P Marx; J A Whitworth; J M Kunh
Journal:  Clin Nephrol       Date:  1976-01       Impact factor: 0.975

8.  Hereditary renal-retinal dysplasia and the medullary cystic disease-nephronophthisis complex.

Authors:  P S Avasthi; D G Erickson; K D Gardner
Journal:  Ann Intern Med       Date:  1976-02       Impact factor: 25.391

Review 9.  Nephronophthisis (medullary cystic disease of the kidney). A study using electron microscopy, immunofluorescence, and a review of the morphological findings.

Authors:  H U Zollinger; M J Mihatsch; A Edefonti; F Gaboardi; E Imbasciati; T Lennert
Journal:  Helv Paediatr Acta       Date:  1980-12

10.  Morphometric analysis of liver lesions in cystic diseases of childhood.

Authors:  B H Landing; T R Wells; A E Claireaux
Journal:  Hum Pathol       Date:  1980-09       Impact factor: 3.466
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  41 in total

1.  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

2.  Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expression.

Authors:  Frank Zaucke; Joana M Boehnlein; Sarah Steffens; Roman S Polishchuk; Luca Rampoldi; Andreas Fischer; Andreas Pasch; Christoph W A Boehm; Anne Baasner; Massimo Attanasio; Bernd Hoppe; Helmut Hopfer; Bodo B Beck; John A Sayer; Friedhelm Hildebrandt; Matthias T F Wolf
Journal:  Hum Mol Genet       Date:  2010-02-18       Impact factor: 6.150

3.  Nephronophthisis.

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

4.  Patient-iPSC-Derived Kidney Organoids Show Functional Validation of a Ciliopathic Renal Phenotype and Reveal Underlying Pathogenetic Mechanisms.

Authors:  Thomas A Forbes; Sara E Howden; Kynan Lawlor; Belinda Phipson; Jovana Maksimovic; Lorna Hale; Sean Wilson; Catherine Quinlan; Gladys Ho; Katherine Holman; Bruce Bennetts; Joanna Crawford; Peter Trnka; Alicia Oshlack; Chirag Patel; Andrew Mallett; Cas Simons; Melissa H Little
Journal:  Am J Hum Genet       Date:  2018-04-26       Impact factor: 11.025

Review 5.  Ciliopathies.

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

6.  Medullary cystic kidney disease type 1: mutational analysis in 37 genes based on haplotype sharing.

Authors:  Matthias T F Wolf; Bettina E Mucha; Hans C Hennies; Massimo Attanasio; Franziska Panther; Isabella Zalewski; Stephanie M Karle; Edgar A Otto; C Constantinou Deltas; Arno Fuchshuber; Friedhelm Hildebrandt
Journal:  Hum Genet       Date:  2006-04-26       Impact factor: 4.132

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.  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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