Literature DB >> 25572247

Alport syndrome in a Kazakh family: a case study.

Elena V Zholdybayeva1, Saule E Rakhimova, Barshagul T Baikara, Nazym B Nigmatullina, Nagima M Mustapayeva, Kuvat T Momynaliev.   

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Year:  2014        PMID： 25572247     DOI： 10.1007/s12041-014-0448-y

Source DB:  PubMed          Journal:  J Genet        ISSN： 0022-1333            Impact factor:   1.166


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  13 in total

Review 1.  Alport's syndrome, Goodpasture's syndrome, and type IV collagen.

Authors:  Billy G Hudson; Karl Tryggvason; Munirathinam Sundaramoorthy; Eric G Neilson
Journal:  N Engl J Med       Date:  2003-06-19       Impact factor: 91.245

Review 2.  Alport's syndrome.

Authors:  F Flinter
Journal:  J Med Genet       Date:  1997-04       Impact factor: 6.318

3.  X-linked Alport syndrome in Hellenic families: phenotypic heterogeneity and mutations near interruptions of the collagen domain in COL4A5.

Authors:  P Demosthenous; K Voskarides; K Stylianou; M Hadjigavriel; M Arsali; C Patsias; E Georgaki; P Zirogiannis; C Stavrou; E Daphnis; A Pierides; C Deltas
Journal:  Clin Genet       Date:  2011-03-13       Impact factor: 4.438

4.  X-linked Alport syndrome: natural history in 195 families and genotype- phenotype correlations in males.

Authors:  Jean Philippe Jais; Bertrand Knebelmann; Iannis Giatras; Mario DE Marchi; Gianfranco Rizzoni; Alessandra Renieri; Manfred Weber; Oliver Gross; Kai-Olaf Netzer; Frances Flinter; Yves Pirson; Christine Verellen; Jörgen Wieslander; Ulf Persson; Karl Tryggvason; Paula Martin; Jens Michael Hertz; Cornelis Schröder; Marek Sanak; Sarka Krejcova; Maria Fernanda Carvalho; Juan Saus; Corinne Antignac; Hubert Smeets; Marie Claire Gubler
Journal:  J Am Soc Nephrol       Date:  2000-04       Impact factor: 10.121

5.  Autosomal dominant Alport syndrome linked to the type IV collage alpha 3 and alpha 4 genes (COL4A3 and COL4A4).

Authors:  J A Jefferson; H H Lemmink; A E Hughes; C M Hill; H J Smeets; C C Doherty; A P Maxwell
Journal:  Nephrol Dial Transplant       Date:  1997-08       Impact factor: 5.992

Review 6.  Familial hematuria.

Authors:  Clifford E Kashtan
Journal:  Pediatr Nephrol       Date:  2007-10-02       Impact factor: 3.714

Review 7.  X inactivation, female mosaicism, and sex differences in renal diseases.

Authors:  Barbara R Migeon
Journal:  J Am Soc Nephrol       Date:  2008-04-30       Impact factor: 10.121

8.  Alport syndrome. Molecular genetic aspects.

Authors:  Jens Michael Hertz
Journal:  Dan Med Bull       Date:  2009-08

Review 9.  Women and Alport syndrome.

Authors:  Michelle N Rheault
Journal:  Pediatr Nephrol       Date:  2011-03-05       Impact factor: 3.714

10.  X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene.

Authors:  A Renieri; M Bruttini; L Galli; P Zanelli; T Neri; S Rossetti; A Turco; N Heiskari; J Zhou; R Gusmano; L Massella; G Banfi; F Scolari; A Sessa; G Rizzoni; K Tryggvason; P F Pignatti; M Savi; A Ballabio; M De Marchi
Journal:  Am J Hum Genet       Date:  1996-06       Impact factor: 11.025
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