Literature DB >> 4688793

Congenital hepatic fibrosis and nephronophthisis. A family study.

H Boichis, J Passwell, R David, H Miller.   

Abstract

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Year:  1973        PMID： 4688793

Source DB:  PubMed          Journal:  Q J Med        ISSN： 0033-5622


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  34 in total

1.  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

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

Review 3.  Liver and kidney disease in ciliopathies.

Authors:  Meral Gunay-Aygun
Journal:  Am J Med Genet C Semin Med Genet       Date:  2009-11-15       Impact factor: 3.908

4.  Renal-hepatic-pancreatic dysplasia: an autosomal recessive disorder with renal and hepatic failure.

Authors:  T J Neuhaus; F Sennhauser; J Briner; B Van Damme; E P Leumann
Journal:  Eur J Pediatr       Date:  1996-09       Impact factor: 3.183

5.  Nephronophthisis.

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

Review 6.  Ciliopathies.

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

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

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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