Related references
Note: Only part of the references are listed.Mild X-linked Alport syndrome due to the COL4A5 G624D variant originating in the Middle Ages is predominant in Central/East Europe and causes kidney failure in midlife
Aleksandra M. Zurowska et al.
KIDNEY INTERNATIONAL (2021)
Clinical and Genetic Features of Autosomal Dominant Alport Syndrome: A Cohort Study
Monica Furlano et al.
AMERICAN JOURNAL OF KIDNEY DISEASES (2021)
Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria
Judy Savige et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2021)
Pathogenic Variants in the Genes Affected in Alport Syndrome (COL4A3-COL4A5) and Their Association With Other Kidney Conditions: A Review
Judy Savige et al.
AMERICAN JOURNAL OF KIDNEY DISEASES (2021)
Prevalence Estimates of Predicted Pathogenic COL4A3-COL4A5 Variants in a Population Sequencing Database and Their Implications for Alport Syndrome
Joel Gibson et al.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2021)
Prevalence of clinical, pathological and molecular features of glomerular basement membrane nephropathy caused by COL4A3 or COL4A4 mutations: a systematic review
Andreas Matthaiou et al.
CLINICAL KIDNEY JOURNAL (2020)
Type IV Collagen Mutations in Familial IgA Nephropathy
Yif Li et al.
KIDNEY INTERNATIONAL REPORTS (2020)
Collagen IV Gene Mutations in Adults With Bilateral Renal Cysts and CKD
Ashima Gulati et al.
KIDNEY INTERNATIONAL REPORTS (2020)
Value of renal gene panel diagnostics in adults waiting for kidney transplantation due to undetermined end-stage renal disease
Isabel Ottlewski et al.
KIDNEY INTERNATIONAL (2019)
Monogenic causes of chronic kidney disease in adults
Deryla M. Connaughton et al.
KIDNEY INTERNATIONAL (2019)
Increased microvascular disease in X-linked and autosomal recessive Alport syndrome: a case control cross sectional observational study
James D. Smith et al.
OPHTHALMIC GENETICS (2019)
Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients
Nina Mann et al.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2019)
Diagnostic Utility of Exome Sequencing for Kidney Disease
E. E. Groopman et al.
NEW ENGLAND JOURNAL OF MEDICINE (2019)
Temporal retinal thinning and the diagnosis of Alport syndrome and Thin basement membrane nephropathy
Yan Chen et al.
OPHTHALMIC GENETICS (2018)
Alport syndrome: a unified classification of genetic disorders of collagen IV alpha 345: a position paper of the Alport Syndrome Classification Working Group
Clifford E. Kashtan et al.
KIDNEY INTERNATIONAL (2018)
A kidney-disease gene panel allows a comprehensive genetic diagnosis of cystic and glomerular inherited kidney diseases
Gemma Bullich et al.
KIDNEY INTERNATIONAL (2018)
Genotype and Outcome After Kidney Transplantation in Alport Syndrome
Valentine Gillion et al.
KIDNEY INTERNATIONAL REPORTS (2018)
Whole-Exome Sequencing in Adults With Chronic Kidney Disease A Pilot Study
Sneh Lata et al.
ANNALS OF INTERNAL MEDICINE (2018)
Alport Syndrome in Women and Girls
Judy Savige et al.
CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2016)
Podocyte Depletion in Thin GBM and Alport Syndrome
Larysa Wickman et al.
PLOS ONE (2016)
X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations
Judith Savige et al.
PLOS ONE (2016)
Ocular Features in Alport Syndrome: Pathogenesis and Clinical Significance
Judy Savige et al.
CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2015)
Evidence of digenic inheritance in Alport syndrome
Maria Antonietta Mencarelli et al.
JOURNAL OF MEDICAL GENETICS (2015)
Multiple kidney cysts in thin basement membrane disease with proteinuria and kidney function impairment
Angel M. Sevillano et al.
CLINICAL KIDNEY JOURNAL (2014)
COL4A3/COL4A4 Mutations and Features in Individuals with Autosomal Recessive Alport Syndrome
Helen Storey et al.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2013)
Genotype-Phenotype Correlation in X-Linked Alport Syndrome
Mir Reza Bekheirnia et al.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2010)
Genetic diseases of connective tissues: cellular and extracellular effects of ECM mutations
John F. Bateman et al.
NATURE REVIEWS GENETICS (2009)
Clinico-pathological correlations in 127 patients in 11 large pedigrees, segregating one of three heterozygous mutations in the COL4A3/COL4A4 genes associated with familial haematuria and significant late progression to proteinuria and chronic kidney disease from focal segmental glomerulosclerosis
Alkis Pierides et al.
NEPHROLOGY DIALYSIS TRANSPLANTATION (2009)
COL4A3/COL4A4 mutations producing focal segmental glomerulosclerosis and renal failure in thin basement membrane nephropathy
Konstantinos Voskarides et al.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2007)
Signs and symptoms of thin basement membrane nephropathy: A prospective regional study on primary glomerular disease - The Limburg Renal Registry
P van Paassen et al.
KIDNEY INTERNATIONAL (2004)
Thin basement membrane nephropathy
J Savige et al.
KIDNEY INTERNATIONAL (2003)
X-linked Alport syndrome:: Natural history and genotype-phenotype correlations in girls and women belonging to 195 families:: A European community Alport syndrome concerted action study
JP Jais et al.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2003)
Alport's syndrome, Goodpasture's syndrome, and type IV collagen
BG Hudson et al.
NEW ENGLAND JOURNAL OF MEDICINE (2003)
Correlation of histopathological features and renal impairment in autosomal dominant Alport syndrome in Bull terriers
JC Hood et al.
NEPHROLOGY DIALYSIS TRANSPLANTATION (2002)
Health care utilization among patients with chronic kidney disease
SS Khan et al.
KIDNEY INTERNATIONAL (2002)
Meta-analysis of genotype-phenotype correlation in X-linked Alport syndrome: impact on clinical counselling
O Gross et al.
NEPHROLOGY DIALYSIS TRANSPLANTATION (2002)
Share Paper
