Literature DB >> 22166944

Clinical utility gene card for: Alport syndrome.

Jens Michael Hertz1, Mads Thomassen, Helen Storey, Frances Flinter.   

Abstract

Mesh：

Substances：

Year:  2011        PMID： 22166944      PMCID： PMC3355248          DOI： 10.1038/ejhg.2011.237

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


× No keyword cloud information.
  7 in total

1.  Alport syndrome in southern Sweden.

Authors:  U Persson; J M Hertz; J Wieslander; M Segelmark
Journal:  Clin Nephrol       Date:  2005-08       Impact factor: 0.975

Review 2.  Genetics of classic Alport's syndrome.

Authors:  F A Flinter; J S Cameron; C Chantler; I Houston; M Bobrow
Journal:  Lancet       Date:  1988-10-29       Impact factor: 79.321

3.  X-linked inheritance of Alport syndrome: family P revisited.

Authors:  S J Hasstedt; C L Atkin
Journal:  Am J Hum Genet       Date:  1983-11       Impact factor: 11.025

4.  The value of clinical criteria in identifying patients with X-linked Alport syndrome.

Authors:  Helen Hanson; Helen Storey; Judith Pagan; Frances Flinter
Journal:  Clin J Am Soc Nephrol       Date:  2010-09-30       Impact factor: 8.237

5.  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

6.  Alport's syndrome in 78 patients: epidemiological and clinical study.

Authors:  H Pajari; H Kääriäinen; T Muhonen; O Koskimies
Journal:  Acta Paediatr       Date:  1996-11       Impact factor: 2.299

7.  MLPA and cDNA analysis improves COL4A5 mutation detection in X-linked Alport syndrome.

Authors:  J M Hertz; I Juncker; N Marcussen
Journal:  Clin Genet       Date:  2008-06-26       Impact factor: 4.438
  7 in total
  17 in total

Review 1.  Ocular features in Alport syndrome: pathogenesis and clinical significance.

Authors:  Judy Savige; Shivanand Sheth; Anita Leys; Anjali Nicholson; Heather G Mack; Deb Colville
Journal:  Clin J Am Soc Nephrol       Date:  2015-02-03       Impact factor: 8.237

2.  Clinical and genetic features in autosomal recessive and X-linked Alport syndrome.

Authors:  Yanyan Wang; Vanessa Sivakumar; Mardhiah Mohammad; Deb Colville; Helen Storey; Frances Flinter; Hayat Dagher; Judy Savige
Journal:  Pediatr Nephrol       Date:  2013-11-02       Impact factor: 3.714

3.  Functional assessment of a novel COL4A5 splice region variant and immunostaining of plucked hair follicles as an alternative method of diagnosis in X-linked Alport syndrome.

Authors:  Andrew F Malone; Steven D Funk; Tarek Alhamad; Jeffrey H Miner
Journal:  Pediatr Nephrol       Date:  2016-12-24       Impact factor: 3.714

4.  COL4A3/COL4A4 mutations and features in individuals with autosomal recessive Alport syndrome.

Authors:  Helen Storey; Judy Savige; Vanessa Sivakumar; Stephen Abbs; Frances A Flinter
Journal:  J Am Soc Nephrol       Date:  2013-09-19       Impact factor: 10.121

Review 5.  The triple helix of collagens - an ancient protein structure that enabled animal multicellularity and tissue evolution.

Authors:  Aaron L Fidler; Sergei P Boudko; Antonis Rokas; Billy G Hudson
Journal:  J Cell Sci       Date:  2018-04-09       Impact factor: 5.285

Review 6.  Alport syndrome--insights from basic and clinical research.

Authors:  Jenny Kruegel; Diana Rubel; Oliver Gross
Journal:  Nat Rev Nephrol       Date:  2012-11-20       Impact factor: 28.314

7.  Diagnosis of Alport syndrome--search for proteomic biomarkers in body fluids.

Authors:  Michael Pohl; Karin Danz; Oliver Gross; Ulrike John; Johannes Urban; Ludwig Patzer; Sandra Habbig; Markus Feldkötter; Oliver Witzke; Mario Walther; Heidrun Rhode
Journal:  Pediatr Nephrol       Date:  2013-06-23       Impact factor: 3.714

Review 8.  Alport syndrome: its effects on the glomerular filtration barrier and implications for future treatment.

Authors:  Judy Savige
Journal:  J Physiol       Date:  2014-08-08       Impact factor: 5.182

Review 9.  DNA variant databases improve test accuracy and phenotype prediction in Alport syndrome.

Authors:  Judy Savige; Elisabet Ars; Richard G H Cotton; David Crockett; Hayat Dagher; Constantinos Deltas; Jie Ding; Frances Flinter; Genevieve Pont-Kingdon; Nizar Smaoui; Roser Torra; Helen Storey
Journal:  Pediatr Nephrol       Date:  2013-05-30       Impact factor: 3.714

10.  Uncovering Modifier Genes of X-Linked Alport Syndrome Using a Novel Multiparent Mouse Model.

Authors:  Yuka Takemon; Valerie Wright; Bernard Davenport; Daniel M Gatti; Susan M Sheehan; Kelsey Letson; Holly S Savage; Rachel Lennon; Ron Korstanje
Journal:  J Am Soc Nephrol       Date:  2021-05-27       Impact factor: 14.978
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.