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Improving mutation screening in familial hematuric nephropathies through next generation sequencing

author

Marie-Alice Macher

2000 -

Christine Bôle-Feysot

Patrick Nitschké

2000 -

Vincent Morinière

Laurence Heidet

Marie-Claire Gubler

1937 -

Corinne Antignac

Solenn Pruvost

Bertrand Knebelmann

Laure-Hélène Noel

published in: Journal of the American Society of Nephrology

date of publication: 2014-05-22

Cites articles 38

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Title

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2013-01-24

Simultaneous sequencing of 24 genes associated with steroid-resistant nephrotic syndrome

Moin A Saleem, Gavin I Welsh, Rodney D. Gilbert
2013-10-17

Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases

Giorgia Mandrile, Gian Marco Ghiggeri, Daniela Giachino, Francesca Mari, Alessandra Renieri, Francesca Ariani
2012-08-09

Incidental copy-number variants identified by routine genome testing in a clinical population

Ian M. Campbell, Philip M. Boone, Chad Shaw, Amy L McGuire, James R. Lupski, Pawel Stankiewicz
2012-03-01

Identification of gene mutations in autosomal dominant polycystic kidney disease through targeted resequencing
2011-12-21

Identification of sequence variants in genetic disease-causing genes using targeted next-generation sequencing
2011-12-14

Early angiotensin-converting enzyme inhibition in Alport syndrome delays renal failure and improves life expectancy

Tim Friede, Patrick Niaudet
2011-09-07

Advances in Alport syndrome diagnosis using next-generation sequencing

Rosangela Artuso, Francesca Mari, Francesca Ariani, Alessandra Renieri
2011-01

Integrative genomics viewer

Eric Lander, Gad Getz, Jill P. Mesirov
2010-09-30

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

Helen Storey
2010-04-08

Genotype-phenotype correlation in X-linked Alport syndrome

Robert William Schrier
2010-11-11

Genetic disorders of glomerular basement membranes
2009-08

Massively parallel sequencing: the next big thing in genetic medicine

Jan M Friedman
2009-04-01

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

Christophe Beroud, Mireille Claustres, Gwenaëlle Collod-Béroud
2009-01-07

Autosomal dominant Alport syndrome: molecular analysis of the COL4A4 gene and clinical outcome

Margherita Cirillo Silengo, Francesca Mari, Rosangela Artuso, Antonio Amoroso, Daniela Giachino, Maria Cristina Rosatelli, Alessandra Renieri
2009-03-01

Simultaneous mutation and copy number variation (CNV) detection by multiplex PCR-based GS-FLX sequencing.

Peter De Rijk, Dirk Goossens
2008-01-01

Inherited diseases of the glomerular basement membrane
2007-06-06

Collagen alpha5 and alpha2(IV) chain coexpression: analysis of skin biopsies of Alport patients
2005-12-07

Autosomal recessive Alport syndrome: an in-depth clinical and molecular analysis of five families

Francesca Mari, Ingrid Winship, Alessandra Renieri, Ilaria Meloni, Elisa Scala
2005-07-01

Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndrome
2004-05-01

Autosomal-dominant Alport syndrome: natural history of a disease due to COL4A3 or COL4A4 gene

Marco Seri, Alessandra Renieri, Francesca Mari, Elisa Scala
2004-06-01

A large tandem duplication within the COL4A5 gene is responsible for the high prevalence of Alport syndrome in French Polynesia.

Yannick Le Meur, Marie-Claire Gubler, Christelle Arrondel, Laurence Heidet, Corinne Antignac
2004-07-01

Two-color multiplex ligation-dependent probe amplification: detecting genomic rearrangements in hereditary multiple exostoses

Bert Bakker
2002-06-01

COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome

Alfredo Brusco, Christelle Arrondel, Daniela Giachino, Laurence Heidet, Ilaria Meloni, Andrea Onetti Muda, Alessandra Renieri, Francesca Mari
2001-01-01

Structure of the human type IV collagen gene COL4A3 and mutations in autosomal Alport syndrome.

Laurence Heidet, Marie-Claire Gubler
2000-09-01

Estimating prevalence in single-gene kidney diseases progressing to renal failure
2000-11

Autosomal dominant Alport syndrome caused by a COL4A3 splice site mutation

Laurence Heidet, Peter Maxwell
2000-04-01

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

Marie-Claire Gubler
1999-01-01

Evidence for genetic heterogeneity in benign familial hematuria

Giorgio Casari, Andrea Ballabio, Alessandra Renieri
1998-11-01

Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome

Marie-Claire Gubler
1998-12-01

High mutation detection rate in the COL4A5 collagen gene in suspected Alport syndrome using PCR and direct DNA sequencing
1998-04-01

Glomerular basement membrane. Identification of a novel disulfide-cross-linked network of alpha3, alpha4, and alpha5 chains of type IV collagen and its implications for the pathogenesis of Alport syndrome

Billy G. Hudson
1997-05-01

Isoform switching of type IV collagen is developmentally arrested in X-linked Alport syndrome leading to increased susceptibility of renal basement membranes to endoproteolysis

Article - wd:Q34568742

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