Literature DB >> 5539277

Evolution of clinical signs in adult-onset cystic disease of the renal medulla.

K D Gardner.   

Abstract

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Year:  1971        PMID: 5539277     DOI: 10.7326/0003-4819-74-1-47

Source DB:  PubMed          Journal:  Ann Intern Med        ISSN: 0003-4819            Impact factor:   25.391


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  14 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.  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

3.  Juvenile nephronophthisis. Clinical, radiological and pathological correlationships.

Authors:  D N Jones; R A Risdon; K Hayden; T M Barratt; A R Chrispin
Journal:  Pediatr Radiol       Date:  1973-10

4.  The nephronophthisis complex. A clinicopathologic study in children.

Authors:  R Waldherr; T Lennert; H P Weber; H J Födisch; K Schärer
Journal:  Virchows Arch A Pathol Anat Histol       Date:  1982

5.  Juvenile nephronophthisis.

Authors:  J F Walker; S O'Neill; J S Hanson; M Carmody; W F O'Dwyer
Journal:  Ir J Med Sci       Date:  1981-07       Impact factor: 1.568

6.  Mapping of a gene for familial juvenile nephronophthisis: refining the map and defining flanking markers on chromosome 2. APN Study Group.

Authors:  F Hildebrandt; I Singh-Sawhney; B Schnieders; L Centofante; H Omran; A Pohlmann; C Schmaltz; H Wedekind; C Schubotz; C Antignac
Journal:  Am J Hum Genet       Date:  1993-12       Impact factor: 11.025

7.  Cystic kidneys. Genetics, pathologic anatomy, clinical picture, and prenatal diagnosis.

Authors:  K Zerres; M C Völpel; H Weiss
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

Review 8.  The nephronophthisis complex: clinical and genetic aspects.

Authors:  F Hildebrandt; R Waldherr; R Kutt; M Brandis
Journal:  Clin Investig       Date:  1992-09

9.  Hereditary renal-retinal dysplasia.

Authors:  V Godel; A Iaina; P Nemet; M Lazar
Journal:  Doc Ophthalmol       Date:  1980-10-15       Impact factor: 2.379

10.  Uromodulin p.Cys147Trp mutation drives kidney disease by activating ER stress and apoptosis.

Authors:  Bryce G Johnson; Lan T Dang; Graham Marsh; Allie M Roach; Zebulon G Levine; Anthony Monti; Deepak Reyon; Lionel Feigenbaum; Jeremy S Duffield
Journal:  J Clin Invest       Date:  2017-10-09       Impact factor: 14.808

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