相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。Guidelines for Genetic Testing and Management of Alport Syndrome
Judy Savige et al.
CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2022)
Digenic Alport Syndrome
Judy Savige et al.
CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2022)
A Systematic Review of Pathogenic COL4A5 Variants and Proteinuria in Women and Girls With X-linked Alport Syndrome
Joel T. Gibson et al.
KIDNEY INTERNATIONAL REPORTS (2022)
An Update on Women and Girls with Alport Syndrome
Daniella Levy Erez et al.
CURRENT PEDIATRICS REPORTS (2022)
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)
KDIGO 2021 CLINICAL PRACTICE GUIDELINE FOR THE MANAGEMENT OF GLOMERULAR DISEASES
Brad H. Rovin et al.
KIDNEY INTERNATIONAL (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)
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)
Clinical practice recommendations for the diagnosis and management of Alport syndrome in children, adolescents, and young adults-an update for 2020
Clifford E. Kashtan et al.
PEDIATRIC NEPHROLOGY (2021)
Genetic Study in Korean Pediatric Patients with Steroid-Resistant Nephrotic Syndrome or Focal Segmental Glomerulosclerosis
Eujin Park et al.
JOURNAL OF CLINICAL MEDICINE (2020)
Trimerization and Genotype-Phenotype Correlation of COL4A5 Mutants in Alport Syndrome
Misato Kamura et al.
KIDNEY INTERNATIONAL REPORTS (2020)
Genotype-phenotype correlations in fl uence the response to angiotensin-targeting drugs in Japanese patients with male X-linked Alport syndrome
Tomohiko Yamamura et al.
KIDNEY INTERNATIONAL (2020)
Nomenclature for kidney function and disease: report of a Kidney Disease: Improving Global Outcomes (KDIGO) Consensus Conference
Andrew S. Levey et al.
KIDNEY INTERNATIONAL (2020)
Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system,EVIDENCE
Go Hun Seo et al.
CLINICAL GENETICS (2020)
X-Linked Alport Syndrome in Women: Genotype and Clinical Course in 24 Cases
Antonio Mastrangelo et al.
FRONTIERS IN MEDICINE (2020)
Genetic background, recent advances in molecular biology, and development of novel therapy in Alport syndrome
Kandai Nozu et al.
KIDNEY RESEARCH AND CLINICAL PRACTICE (2020)
Expert consensus guidelines for the genetic diagnosis of Alport syndrome
Judy Savige et al.
PEDIATRIC NEPHROLOGY (2019)
A review of clinical characteristics and genetic backgrounds in Alport syndrome
Kandai Nozu et al.
CLINICAL AND EXPERIMENTAL NEPHROLOGY (2019)
Keratoconus in a patient with Alport syndrome: A case report
Majid Moshirfar et al.
WORLD JOURNAL OF CLINICAL CASES (2019)
X-linked Alport syndrome: pathogenic variant features and further auditory genotype-phenotype correlations in males
Xiao Zhang et al.
ORPHANET JOURNAL OF RARE DISEASES (2018)
Early Hearing Detection and Vocabulary of Children With Hearing Loss
Christine Yoshinaga-Itano et al.
PEDIATRICS (2017)
Natural History and Genotype-Phenotype Correlation in Female X-Linked Alport Syndrome
Tomohiko Yamamura et al.
KIDNEY INTERNATIONAL REPORTS (2017)
Ocular Features in Alport Syndrome: Pathogenesis and Clinical Significance
Judy Savige et al.
CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2015)
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)
The global burden of disabling hearing impairment: a call to action
Bolajoko O. Olusanya et al.
BULLETIN OF THE WORLD HEALTH ORGANIZATION (2014)
Milder clinical aspects of X-linked Alport syndrome in men positive for the collagen IV α5 chain
Yuya Hashimura et al.
KIDNEY INTERNATIONAL (2014)
Improved equations estimating GFR in children with chronic kidney disease using an immunonephelometric determination of cystatin C
George J. Schwartz et al.
KIDNEY INTERNATIONAL (2012)
Genotype-Phenotype Correlation in X-Linked Alport Syndrome
Mir Reza Bekheirnia et al.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2010)
A family with X-linked benign familial hematuria
Kazunari Kaneko et al.
PEDIATRIC NEPHROLOGY (2010)
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)
Meta-analysis of genotype-phenotype correlation in X-linked Alport syndrome: impact on clinical counselling
O Gross et al.
NEPHROLOGY DIALYSIS TRANSPLANTATION (2002)
Mutational analysis of COL4A5 gene in Korean Alport syndrome
HI Cheong et al.
PEDIATRIC NEPHROLOGY (2000)