Literature DB >> 20607301

Polycystic kidney and hepatic disease with mental retardation is nephronophthisis 11 caused by MKS3/TMEM67 mutations.

Tomás Seeman, Eva Seemanová, Gudrun Nuernberg, Peter Nuernberg, Sabine Janssen, Edgar A Otto.   

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Year:  2010        PMID： 20607301     DOI： 10.1007/s00467-010-1591-1

Source DB:  PubMed          Journal:  Pediatr Nephrol        ISSN： 0931-041X            Impact factor:   3.714


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  4 in total

1.  Glomerulocystic disease with hepatoblastoma in a neonate: a case report.

Authors:  M L Greer; J Danin; A C Lamont
Journal:  Pediatr Radiol       Date:  1998-09

2.  Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).

Authors:  E A Otto; K Tory; M Attanasio; W Zhou; M Chaki; Y Paruchuri; E L Wise; M T F Wolf; B Utsch; C Becker; G Nürnberg; P Nürnberg; A Nayir; S Saunier; C Antignac; F Hildebrandt
Journal:  J Med Genet       Date:  2009-06-08       Impact factor: 6.318

3.  Polycystic kidney and hepatic disease with mental retardation and hand anomalies in three siblings.

Authors:  Tomás Seeman; Marcela Malíková; Kveta Bláhová; Eva Seemanová
Journal:  Pediatr Nephrol       Date:  2008-11-15       Impact factor: 3.714

Review 4.  Nephronophthisis: disease mechanisms of a ciliopathy.

Authors:  Friedhelm Hildebrandt; Massimo Attanasio; Edgar Otto
Journal:  J Am Soc Nephrol       Date:  2008-12-31       Impact factor: 10.121
  4 in total
  1 in total

1.  Induction of olfaction and cancer-related genes in mice fed a high-fat diet as assessed through the mode-of-action by network identification analysis.

Authors:  Youngshim Choi; Cheol-Goo Hur; Taesun Park
Journal:  PLoS One       Date:  2013-03-26       Impact factor: 3.240
  1 in total

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