Literature DB >> 12637656

WT1 splice site mutation in a 46,XX female with minimal-change nephrotic syndrome and Wilms' tumour.

Chantal Loirat1, Jean Luc André, Jacqueline Champigneulle, Cécile Acquaviva, Dominique Chantereau, Rosine Bourquard, Jacques Elion, Erick Denamur.   

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Year:  2003        PMID: 12637656     DOI: 10.1093/ndt/gfg041

Source DB:  PubMed          Journal:  Nephrol Dial Transplant        ISSN: 0931-0509            Impact factor:   5.992


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  4 in total

Review 1.  WT1 and glomerular diseases.

Authors:  Patrick Niaudet; Marie-Claire Gubler
Journal:  Pediatr Nephrol       Date:  2006-08-23       Impact factor: 3.714

Review 2.  Syndromes and constitutional chromosomal abnormalities associated with Wilms tumour.

Authors:  R H Scott; C A Stiller; L Walker; N Rahman
Journal:  J Med Genet       Date:  2006-05-11       Impact factor: 6.318

3.  WT1 mutations in nephrotic syndrome revisited. High prevalence in young girls, associations and renal phenotypes.

Authors:  Filippo Aucella; Luigi Bisceglia; Patrizia De Bonis; Maddalena Gigante; Gianluca Caridi; Giancarlo Barbano; Gerolamo Mattioli; Francesco Perfumo; Loreto Gesualdo; Gian Marco Ghiggeri
Journal:  Pediatr Nephrol       Date:  2006-08-15       Impact factor: 3.714

4.  Frasier syndrome, a potential cause of end-stage renal failure in childhood.

Authors:  Manon Bache; Céline Dheu; Bérénice Doray; Hélène Fothergill; Sylvie Soskin; Françoise Paris; Charles Sultan; Michel Fischbach
Journal:  Pediatr Nephrol       Date:  2010-03       Impact factor: 3.714

  4 in total

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