Variants in genes coding for collagen type IV α-chains are frequent causes of persistent, isolated hematuria during childhood

Clinical and Genetic Features of Autosomal Dominant Alport Syndrome: A Case Series

(2021) Mónica Furlano et al.   AMERICAN JOURNAL OF KIDNEY DISEASES

Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria

(2021) Judy Savige et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Prevalence Estimates of Predicted Pathogenic COL4A3–COL4A5 Variants in a Population Sequencing Database and Their Implications for Alport Syndrome

(2021) Joel Gibson et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

A multicenter, randomized, placebo-controlled, double-blind phase 3 trial with open-arm comparison indicates safety and efficacy of nephroprotective therapy with ramipril in children with Alport’s syndrome

(2020) Oliver Gross et al.   KIDNEY INTERNATIONAL

Genotype-phenotype correlations influence the response to angiotensin-targeting drugs in Japanese patients with male X-linked Alport syndrome.

(2020) Tomohiko Yamamura et al.   KIDNEY INTERNATIONAL

Alport syndrome: a unified classification of genetic disorders of collagen IV α345: a position paper of the Alport Syndrome Classification Working Group

(2018) Clifford E. Kashtan et al.   KIDNEY INTERNATIONAL

A kidney-disease gene panel allows a comprehensive genetic diagnosis of cystic and glomerular inherited kidney diseases

(2018) Gemma Bullich et al.   KIDNEY INTERNATIONAL

VarSome: the human genomic variant search engine

(2018) Christos Kopanos et al.   BIOINFORMATICS

Bleeding Complications after Pediatric Kidney Biopsy

(2018) Charles D. Varnell et al.   Clinical Journal of the American Society of Nephrology

The Natural Course of Biopsy-Proven Isolated Microscopic Hematuria: a Single Center Experience of 350 Patients

(2016) Hae Min Lee et al.   JOURNAL OF KOREAN MEDICAL SCIENCE

Renal biopsy findings and clinical indicators of patients with hematuria without overt proteinuria

(2015) Yoshie Hoshino et al.   Clinical and Experimental Nephrology

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Haematuria as a risk factor for chronic kidney disease progression in glomerular diseases: A review

(2015) Juan Antonio Moreno et al.   PEDIATRIC NEPHROLOGY

An international consensus approach to the management of atypical hemolytic uremic syndrome in children

(2015) Chantal Loirat et al.   PEDIATRIC NEPHROLOGY

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

(2014) Judy Savige   JOURNAL OF PHYSIOLOGY-LONDON

Natural history of genetically proven autosomal recessive Alport syndrome

(2014) Masafumi Oka et al.   PEDIATRIC NEPHROLOGY

Frequency of COL4A3/COL4A4 Mutations amongst Families Segregating Glomerular Microscopic Hematuria and Evidence for Activation of the Unfolded Protein Response. Focal and Segmental Glomerulosclerosis Is a Frequent Development during Ageing

(2014) Louiza Papazachariou et al.   PLoS One

Molecular genetics of familial hematuric diseases

(2013) C. Deltas et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

ClinVar: public archive of relationships among sequence variation and human phenotype

(2013) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

Persistent asymptomatic isolated hematuria in children: clinical and histopathological features and prognosis

(2013) Chun-Yue Feng et al.   World Journal of Pediatrics

Safety and Complications of Percutaneous Kidney Biopsies in 715 Children and 8573 Adults in Norway 1988-2010

(2012) C. Tondel et al.   Clinical Journal of the American Society of Nephrology

Renal Diseases Associated with Hematuria in Children and Adolescents: A Brief Tutorial

(2012) John Hicks et al.   ULTRASTRUCTURAL PATHOLOGY

Advances in Alport syndrome diagnosis using next-generation sequencing

(2011) Rosangela Artuso et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

LOVD v.2.0: the next generation in gene variant databases

(2011) Ivo F. A. C. Fokkema et al.   HUMAN MUTATION

Persistent Asymptomatic Isolated Microscopic Hematuria in Israeli Adolescents and Young Adults and Risk for End-Stage Renal Disease

(2011) Asaf Vivante   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

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

(2011) Oliver Gross et al.   KIDNEY INTERNATIONAL

Identification of the NC1 Domain of α3 Chain as Critical for α3α4α5 Type IV Collagen Network Assembly

(2010) Valerie LeBleu et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Genotype-Phenotype Correlation in X-Linked Alport Syndrome

(2010) M. R. Bekheirnia et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Cellular Origins of Type IV Collagen Networks in Developing Glomeruli

(2009) D. R. Abrahamson et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Natural History and Renal Pathology in Patients with Isolated Microscopic Hematuria

(2009) Byung Soo Kim et al.   KOREAN JOURNAL OF INTERNAL MEDICINE