Alport Syndrome
What's New
Last Posted: Jun 20, 2024
- Genomic Testing in Patients with Kidney Failure of an Unknown Cause: a National Australian Study.
Amali C Mallawaarachchi et al. Clin J Am Soc Nephrol 2024 - Genomics in the kidney clinic.
Gabriel T Doctor et al. Clin Med (Lond) 2023 23(3) 246-249 - The KIDNEYCODE Program: Diagnostic Yield and Clinical Features of Individuals with CKD.
Lieberman Kenneth V et al. Kidney360 2022 3(5) 900-909 - Beyond Panel-Based Testing: Exome Analysis Increases Sensitivity for Diagnosis of Genetic Kidney Disease.
Wilson Parker C et al. Kidney360 2022 1(8) 772-780 - Prevalence of clinical, pathological and molecular features of glomerular basement membrane nephropathy caused by COL4A3 or COL4A4 mutations: a systematic review.
Matthaiou Andreas et al. Clinical kidney journal 2020 Dec 13(6) 1025-1036 - Long-term outcome among females with Alport syndrome from a single pediatric center.
Goka Selasie et al. Pediatric nephrology (Berlin, Germany) 2020 Oct - [Clinical phenotype of Alport syndrome in monozygotic twins].
Deng H Y et al. Zhonghua er ke za zhi = Chinese journal of pediatrics 2020 Sep 58(9) 731-737 - Comparison between conventional and comprehensive sequencing approaches for genetic diagnosis of Alport syndrome.
Yamamura Tomohiko et al. Molecular genetics & genomic medicine 2019 7(9) e883 - Initial experience from a renal genetics clinic demonstrates a distinct role in patient management.
Thomas Christie P et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Mar - Utility of Genomic Testing after Renal Biopsy.
Murray Susan L et al. American journal of nephrology 2019 Dec 51(1) 43-53 - Alport Syndrome in Women and Girls.
Savige Judy et al. Clinical journal of the American Society of Nephrology : CJASN 2016 11(9) 1713-20 - The importance of clinician, patient and researcher collaborations in Alport syndrome.
Rheault Michelle N et al. Pediatric nephrology (Berlin, Germany) 2019 May - Advances in molecular diagnosis and therapeutics in nephrotic syndrome and focal and segmental glomerulosclerosis.
Sharif Bedra et al. Current opinion in nephrology and hypertension 2018 27(3) 194-200 - Alport syndrome: a unified classification of genetic disorders of collagen IV α345: a position paper of the Alport Syndrome Classification Working Group.
Kashtan Clifford E et al. Kidney international 2018 93(5) 1045-1051 - Alport syndrome: deducing the mode of inheritance from the presence of haematuria in family members.
Savige Judy et al. Pediatric nephrology (Berlin, Germany) 2018 Nov - A review of clinical characteristics and genetic backgrounds in Alport syndrome.
Nozu Kandai et al. Clinical and experimental nephrology 2018 Aug - Clinical genetic testing using a custom-designed steroid-resistant nephrotic syndrome gene panel: analysis and recommendations.
Sen Ethan S et al. Journal of medical genetics 2017 Dec 54(12) 795-804 - Expert consensus guidelines for the genetic diagnosis of Alport syndrome.
Savige Judy et al. Pediatric nephrology (Berlin, Germany) 2018 Jul - Alport syndrome: impact of digenic inheritance in patients management.
Fallerini C et al. Clinical genetics 2017 Jul 92(1) 34-44 - Advances and unmet needs in genetic, basic and clinical science in Alport syndrome: report from the 2015 International Workshop on Alport Syndrome.
Gross Oliver et al. Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2017 Jun 32(6) 916-924
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Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
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- Fragile X Syndrome
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- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2024
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