Literature DB >> 21863055

Clinical utility gene card for: Cystinuria.

Thomas Eggermann1, Klaus Zerres, Virginia Nunes, Mariona Font-Llitjós, Luigi Bisceglia, Anthoula Chatzikyriakidou, Luca dello Strologo, Elon Pras, John Creemers, Manuel Palacin.   

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Year:  2011        PMID： 21863055      PMCID： PMC3260922          DOI： 10.1038/ejhg.2011.163

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  10 in total

1.  Isolated cystinuria (OMIM 238200) is not a separate entity but is caused by a mutation in the cystinuria gene SLC7A9.

Authors:  T Eggermann; M Elbracht; F Haverkamp; C Schmidt; K Zerres
Journal:  Clin Genet       Date:  2007-06       Impact factor: 4.438

2.  Evidence for association of SLC7A9 gene haplotypes with cystinuria manifestation in SLC7A9 mutation carriers.

Authors:  Anthoula Chatzikyriakidou; Nikolaos Sofikitis; Vasiliki Kalfakakou; Konstantinos Siamopoulos; Ioannis Georgiou
Journal:  Urol Res       Date:  2006-07-13

3.  New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype.

Authors:  M Font-Llitjós; M Jiménez-Vidal; L Bisceglia; M Di Perna; L de Sanctis; F Rousaud; L Zelante; M Palacín; V Nunes
Journal:  J Med Genet       Date:  2005-01       Impact factor: 6.318

Review 4.  Pathophysiology and treatment of cystinuria.

Authors:  Josep Chillarón; Mariona Font-Llitjós; Joana Fort; Antonio Zorzano; David S Goldfarb; Virginia Nunes; Manuel Palacín
Journal:  Nat Rev Nephrol       Date:  2010-06-01       Impact factor: 28.314

5.  Global distribution of the most prevalent deletions causing hypotonia-cystinuria syndrome.

Authors:  Kevin Martens; Inge Heulens; Sandra Meulemans; Marco Zaffanello; David Tilstra; Frederik J Hes; Raoul Rooman; Inge François; Francis de Zegher; Jaak Jaeken; Gert Matthijs; John W M Creemers
Journal:  Eur J Hum Genet       Date:  2007-06-20       Impact factor: 4.246

6.  Large rearrangements detected by MLPA, point mutations, and survey of the frequency of mutations within the SLC3A1 and SLC7A9 genes in a cohort of 172 cystinuric Italian patients.

Authors:  Luigi Bisceglia; Lucia Fischetti; Patrizia De Bonis; Orazio Palumbo; Bartolomeo Augello; Pietro Stanziale; Massimo Carella; Leopoldo Zelante
Journal:  Mol Genet Metab       Date:  2010-01       Impact factor: 4.797

7.  Biochemical and clinical studies in Libyan Jewish cystinuria patients and their relatives.

Authors:  E Pras; I Kochba; A Lubetzky; M Pras; Y Sidi; D L Kastner
Journal:  Am J Med Genet       Date:  1998-11-02

8.  Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT.

Authors:  L Feliubadaló; M Font; J Purroy; F Rousaud; X Estivill; V Nunes; E Golomb; M Centola; I Aksentijevich; Y Kreiss; B Goldman; M Pras; D L Kastner; E Pras; P Gasparini; L Bisceglia; E Beccia; M Gallucci; L de Sanctis; A Ponzone; G F Rizzoni; L Zelante; M T Bassi; A L George; M Manzoni; A De Grandi; M Riboni; J K Endsley; A Ballabio; G Borsani; N Reig; E Fernández; R Estévez; M Pineda; D Torrents; M Camps; J Lloberas; A Zorzano; M Palacín
Journal:  Nat Genet       Date:  1999-09       Impact factor: 38.330

9.  Comparison between SLC3A1 and SLC7A9 cystinuria patients and carriers: a need for a new classification.

Authors:  Luca Dello Strologo; Elon Pras; Claudia Pontesilli; Ercole Beccia; Vittorino Ricci-Barbini; Luisa de Sanctis; Alberto Ponzone; Michele Gallucci; Luigi Bisceglia; Leopoldo Zelante; Maite Jimenez-Vidal; Mariona Font; Antonio Zorzano; Ferran Rousaud; Virginia Nunes; Paolo Gasparini; Manuel Palacín; Gianfranco Rizzoni
Journal:  J Am Soc Nephrol       Date:  2002-10       Impact factor: 10.121

10.  Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine.

Authors:  M J Calonge; P Gasparini; J Chillarón; M Chillón; M Gallucci; F Rousaud; L Zelante; X Testar; B Dallapiccola; F Di Silverio
Journal:  Nat Genet       Date:  1994-04       Impact factor: 38.330
  10 in total
  4 in total

Review 1.  How should patients with cystine stone disease be evaluated and treated in the twenty-first century?

Authors:  Kim Hovgaard Andreassen; Katja Venborg Pedersen; Susanne Sloth Osther; Helene Ulrik Jung; Søren Kissow Lildal; Palle Joern Sloth Osther
Journal:  Urolithiasis       Date:  2015-11-27       Impact factor: 3.436

Review 2.  Cystinuria-a urologist's perspective.

Authors:  Kay Thomas; Kathie Wong; John Withington; Matthew Bultitude; Angela Doherty
Journal:  Nat Rev Urol       Date:  2014-03-25       Impact factor: 14.432

Review 3.  Cystinuria: an inborn cause of urolithiasis.

Authors:  Thomas Eggermann; Andreas Venghaus; Klaus Zerres
Journal:  Orphanet J Rare Dis       Date:  2012-04-05       Impact factor: 4.123

Review 4.  The genetic framework for development of nephrolithiasis.

Authors:  Vinaya Vasudevan; Patrick Samson; Arthur D Smith; Zeph Okeke
Journal:  Asian J Urol       Date:  2016-11-28
  4 in total

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