Related references
Note: Only part of the references are listed.Identification of disease-causing variants by comprehensive genetic testing with exome sequencing in adults with suspicion of hereditary FSGS
Matthias Christoph Braunisch et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2021)
Next-generation sequencing in patients with familial FSGS: first report of collagen gene mutations in Tunisian patients
Sawssan Ammar et al.
JOURNAL OF HUMAN GENETICS (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)
Genotype-phenotype correlations and nephroprotective effects of RAAS inhibition in patients with autosomal recessive Alport syndrome
Yanqin Zhang et al.
PEDIATRIC NEPHROLOGY (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)
Identification of Genetic Causes of Focal Segmental Glomerulosclerosis Increases With Proper Patient Selection
Jing Miao et al.
MAYO CLINIC PROCEEDINGS (2021)
Whole-Exome Sequencing Solved over 2-Decade Kidney Disease Enigma
Suramath Isaranuwatchai et al.
NEPHRON (2021)
Recurrence of FSGS after Kidney Transplantation in Adults
Audrey Uffing et al.
CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2020)
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)
Trimerization and Genotype-Phenotype Correlation of COL4A5 Mutants in Alport Syndrome
Misato Kamura et al.
KIDNEY INTERNATIONAL REPORTS (2020)
Expert consensus guidelines for the genetic diagnosis of Alport syndrome
Judy Savige et al.
PEDIATRIC NEPHROLOGY (2019)
Integration of Genetic Testing and Pathology for the Diagnosis of Adults with FSGS
Tony Yao et al.
CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2019)
Advances in molecular diagnosis and therapeutics in nephrotic syndrome and focal and segmental glomerulosclerosis
Bedra Sharif et al.
CURRENT OPINION IN NEPHROLOGY AND HYPERTENSION (2018)
Differentiating Primary, Genetic, and Secondary FSGS in Adults: A Clinicopathologic Approach
An S. De Vriese et al.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2018)
Identification of genetic causes for sporadic steroid-resistant nephrotic syndrome in adults
Olivier Gribouval et al.
KIDNEY INTERNATIONAL (2018)
Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome
Jillian K. Warejko et al.
CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2018)
Clinical genetic testing using a custom-designed steroid-resistant nephrotic syndrome gene panel: analysis and recommendations
Ethan S. Sen et al.
JOURNAL OF MEDICAL GENETICS (2017)
Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management
Agnieszka Bierzynska et al.
KIDNEY INTERNATIONAL (2017)
Collagen (COL4A) mutations are the most frequent mutations underlying adult focal segmental glomerulosclerosis
Christine Gast et al.
NEPHROLOGY DIALYSIS TRANSPLANTATION (2016)
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
Sue Richards et al.
GENETICS IN MEDICINE (2015)
Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1
Lamisse Mansour-Hendili et al.
HUMAN MUTATION (2015)
A Single-Gene Cause in 29.5% of Cases of Steroid-Resistant Nephrotic Syndrome
Carolin E. Sadowski et al.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2015)
Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases
C. Fallerini et al.
CLINICAL GENETICS (2014)
LMX1B Mutations Cause Hereditary FSGS without Extrarenal Involvement
Olivia Boyer et al.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2013)
Clinical Utility of Genetic Testing in Children and Adults with Steroid-Resistant Nephrotic Syndrome
Sheila Santin et al.
CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2011)
Screening for NPHS2 Mutations May Help Predict FSGS Recurrence after Transplantation
Therese C. Jungraithmayr et al.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2011)
Pathologic classification of focal segmental glomerulosclerosis
V D'Agati
SEMINARS IN NEPHROLOGY (2003)