Literature DB >> 17400558

Alport syndrome and the X chromosome: implications of a diagnosis of Alport syndrome in females.

Clifford E Kashtan.   

Abstract

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Year:  2007        PMID： 17400558     DOI： 10.1093/ndt/gfm024

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


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  17 in total

1.  Prospective study on the potential of RAAS blockade to halt renal disease in Alport syndrome patients with heterozygous mutations.

Authors:  Johanna Stock; Johannes Kuenanz; Niklas Glonke; Joseph Sonntag; Jenny Frese; Burkhard Tönshoff; Britta Höcker; Bernd Hoppe; Markus Feldkötter; Lars Pape; Christian Lerch; Simone Wygoda; Manfred Weber; Gerhard-Anton Müller; Oliver Gross
Journal:  Pediatr Nephrol       Date:  2016-07-11       Impact factor: 3.714

Review 2.  Glomerular pathology in Alport syndrome: a molecular perspective.

Authors:  Dominic Cosgrove
Journal:  Pediatr Nephrol       Date:  2011-04-01       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.  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

5.  COL4A4 variant recently identified: lessons learned in variant interpretation-a case report.

Authors:  Jenelle Cocorpus; Megan M Hager; Corinne Benchimol; Vanesa Bijol; Fadi Salem; Sumit Punj; Laura Castellanos; Pamela Singer; Christine B Sethna; Abby Basalely
Journal:  BMC Nephrol       Date:  2022-07-16       Impact factor: 2.585

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

Review 7.  Familial hematuria.

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

8.  Genetic, Clinical, and Pathologic Backgrounds of Patients with Autosomal Dominant Alport Syndrome.

Authors:  Naohiro Kamiyoshi; Kandai Nozu; Xue Jun Fu; Naoya Morisada; Yoshimi Nozu; Ming Juan Ye; Aya Imafuku; Kenichiro Miura; Tomohiko Yamamura; Shogo Minamikawa; Akemi Shono; Takeshi Ninchoji; Ichiro Morioka; Koichi Nakanishi; Norishige Yoshikawa; Hiroshi Kaito; Kazumoto Iijima
Journal:  Clin J Am Soc Nephrol       Date:  2016-06-08       Impact factor: 8.237

9.  Alport Syndrome in Women and Girls.

Authors:  Judy Savige; Deb Colville; Michelle Rheault; Susie Gear; Rachel Lennon; Sharon Lagas; Moira Finlay; Frances Flinter
Journal:  Clin J Am Soc Nephrol       Date:  2016-06-10       Impact factor: 8.237

Review 10.  The role of molecular genetics in diagnosing familial hematuria(s).

Authors:  Constantinos Deltas; Alkis Pierides; Konstantinos Voskarides
Journal:  Pediatr Nephrol       Date:  2011-06-19       Impact factor: 3.714
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