Literature DB >> 18635443

Perinatal deaths in a family with autosomal dominant polycystic kidney disease and a PKD2 mutation.

Carsten Bergmann, Nadina Ortiz Brüchle, Valeska Frank, Helga Rehder, Klaus Zerres.   

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Year:  2008        PMID： 18635443     DOI： 10.1056/NEJMc0801868

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


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  11 in total

Review 1.  Autosomal dominant polycystic kidney disease: the last 3 years.

Authors:  Vicente E Torres; Peter C Harris
Journal:  Kidney Int       Date:  2009-05-20       Impact factor: 10.612

2.  Pregnancy outcomes in autosomal dominant polycystic kidney disease: a case-control study.

Authors:  Min Wu; Diping Wang; Ladan Zand; Peter C Harris; Wendy M White; Vesna D Garovic; Cindy A Kermott
Journal:  J Matern Fetal Neonatal Med       Date:  2015-03-10

3.  Mutations in multiple PKD genes may explain early and severe polycystic kidney disease.

Authors:  Carsten Bergmann; Jennifer von Bothmer; Nadina Ortiz Brüchle; Andreas Venghaus; Valeska Frank; Henry Fehrenbach; Tobias Hampel; Lars Pape; Annegret Buske; Jon Jonsson; Nanette Sarioglu; Antónia Santos; Jose Carlos Ferreira; Jan U Becker; Reinhold Cremer; Julia Hoefele; Marcus R Benz; Lutz T Weber; Reinhard Buettner; Klaus Zerres
Journal:  J Am Soc Nephrol       Date:  2011-10-27       Impact factor: 10.121

Review 4.  Autosomal recessive polycystic kidney disease: a hepatorenal fibrocystic disorder with pleiotropic effects.

Authors:  Erum A Hartung; Lisa M Guay-Woodford
Journal:  Pediatrics       Date:  2014-08-11       Impact factor: 7.124

5.  Incompletely penetrant PKD1 alleles mimic the renal manifestations of ARPKD.

Authors:  Mihailo Vujic; Christina M Heyer; Elisabet Ars; Katharina Hopp; Arseni Markoff; Charlotte Orndal; Bengt Rudenhed; Samih H Nasr; Vicente E Torres; Roser Torra; Nadja Bogdanova; Peter C Harris
Journal:  J Am Soc Nephrol       Date:  2010-06-17       Impact factor: 10.121

6.  Functional polycystin-1 dosage governs autosomal dominant polycystic kidney disease severity.

Authors:  Katharina Hopp; Christopher J Ward; Cynthia J Hommerding; Samih H Nasr; Han-Fang Tuan; Vladimir G Gainullin; Sandro Rossetti; Vicente E Torres; Peter C Harris
Journal:  J Clin Invest       Date:  2012-10-15       Impact factor: 14.808

Review 7.  From bone abnormalities to mineral metabolism dysregulation in autosomal dominant polycystic kidney disease.

Authors:  Djalila Mekahli; Justine Bacchetta
Journal:  Pediatr Nephrol       Date:  2013-01-24       Impact factor: 3.714

8.  Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease.

Authors:  Sandro Rossetti; Vickie J Kubly; Mark B Consugar; Katharina Hopp; Sushmita Roy; Sharon W Horsley; Dominique Chauveau; Lesley Rees; T Martin Barratt; William G van't Hoff; Patrick Niaudet; W Patrick Niaudet; Vicente E Torres; Peter C Harris
Journal:  Kidney Int       Date:  2009-01-21       Impact factor: 10.612

9.  An efficient and comprehensive strategy for genetic diagnostics of polycystic kidney disease.

Authors:  Tobias Eisenberger; Christian Decker; Milan Hiersche; Ruben C Hamann; Eva Decker; Steffen Neuber; Valeska Frank; Hanno J Bolz; Henry Fehrenbach; Lars Pape; Burkhard Toenshoff; Christoph Mache; Kay Latta; Carsten Bergmann
Journal:  PLoS One       Date:  2015-02-03       Impact factor: 3.240

10.  Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD).

Authors:  Paola Carrera; Silvia Calzavara; Riccardo Magistroni; Johan T den Dunnen; Francesca Rigo; Stefania Stenirri; Francesca Testa; Piergiorgio Messa; Roberta Cerutti; Francesco Scolari; Claudia Izzi; Alberto Edefonti; Susanna Negrisolo; Elisa Benetti; Maria Teresa Sciarrone Alibrandi; Paolo Manunta; Alessandra Boletta; Maurizio Ferrari
Journal:  Sci Rep       Date:  2016-08-08       Impact factor: 4.379
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