Literature DB >> 10432421

Making the diagnosis of Alport's syndrome.

Y Pirson1.   

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Year:  1999        PMID： 10432421     DOI： 10.1046/j.1523-1755.1999.00601.x

Source DB:  PubMed          Journal:  Kidney Int        ISSN： 0085-2538            Impact factor:   10.612


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  27 in total

1.  COL4A4 gene study of a European population: description of new mutations causing autosomal dominant Alport syndrome.

Authors:  Consolación Rosado; Elena Bueno; Carmen Felipe; Rogelio González-Sarmiento
Journal:  Int J Mol Epidemiol Genet       Date:  2014-12-15

2.  Diagnosis of Alport syndrome without biopsy?

Authors:  Marie Claire Gubler
Journal:  Pediatr Nephrol       Date:  2006-12-02       Impact factor: 3.714

3.  Novel X-linked glomerulopathy is associated with a COL4A5 missense mutation in a non-collagenous interruption.

Authors:  Brian Becknell; Gloria A Zender; Ronald Houston; Peter B Baker; Kim L McBride; Wentian Luo; David S Hains; Dorin-Bogdan Borza; Andrew L Schwaderer
Journal:  Kidney Int       Date:  2010-09-29       Impact factor: 10.612

4.  Discordance between skin biopsy and kidney biopsy in an X-linked carrier of Alport syndrome.

Authors:  Lorraine A Hamiwka; David H George; Silviu Grisaru; Julian P Midgley
Journal:  Pediatr Nephrol       Date:  2007-02-10       Impact factor: 3.714

5.  Advances in Alport syndrome diagnosis using next-generation sequencing.

Authors:  Rosangela Artuso; Chiara Fallerini; Laura Dosa; Francesca Scionti; Maurizio Clementi; Guido Garosi; Laura Massella; Maria Carmela Epistolato; Roberta Mancini; Francesca Mari; Ilaria Longo; Francesca Ariani; Alessandra Renieri; Mirella Bruttini
Journal:  Eur J Hum Genet       Date:  2011-09-07       Impact factor: 4.246

6.  Identification of a novel COL4A5 mutation in a Chinese family with X-linked Alport syndrome using exome sequencing.

Authors:  Yi Guo; Jinzhong Yuan; Hui Liang; Jingjing Xiao; Hongbo Xu; Lamei Yuan; Kai Gao; Bin Wu; Yongchang Tang; Xiaorong Li; Hao Deng
Journal:  Mol Biol Rep       Date:  2014-02-13       Impact factor: 2.316

7.  Alport's syndrome with type 4 renal tubular acidosis.

Authors:  Thomas McDonnell; Chukwuma Chukwu; Christopher Wong
Journal:  BMJ Case Rep       Date:  2017-05-31

8.  Pathologic glomerular characteristics and glomerular basement membrane alterations in biopsy-proven thin basement membrane nephropathy.

Authors:  Yusuke Kajimoto; Yoko Endo; Mika Terasaki; Shinobu Kunugi; Toru Igarashi; Akiko Mii; Yasuhiro Terasaki; Akira Shimizu
Journal:  Clin Exp Nephrol       Date:  2019-01-28       Impact factor: 2.801

9.  Collagen IVα345 dysfunction in glomerular basement membrane diseases. I. Discovery of a COL4A3 variant in familial Goodpasture's and Alport diseases.

Authors:  Elena N Pokidysheva; Harald Seeger; Vadim Pedchenko; Sergei Chetyrkin; Carsten Bergmann; Dale Abrahamson; Zhao Wei Cui; Eric Delpire; Fernando C Fervenza; Aaron L Fidler; Agnes B Fogo; Ariana Gaspert; Maik Grohmann; Oliver Gross; George Haddad; Raymond C Harris; Clifford Kashtan; A Richard Kitching; Johan M Lorenzen; Stephen McAdoo; Charles D Pusey; Marten Segelmark; Alicia Simmons; Paul A Voziyan; Timo Wagner; Rudolf P Wüthrich; Ming-Hui Zhao; Sergei P Boudko; Andreas D Kistler; Billy G Hudson
Journal:  J Biol Chem       Date:  2021-03-26       Impact factor: 5.486

10.  Alport Syndrome: De Novo Mutation in the COL4A5 Gene Converting Glycine 1205 to Valine.

Authors:  Pilar Antón-Martín; Cristina Aparicio López; Soraya Ramiro-León; Sonia Santillán Garzón; Fernando Santos-Simarro; Belén Gil-Fournier
Journal:  Clin Med Insights Pediatr       Date:  2012-06-28
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