Last Posted: Dec 19, 2019
- 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
- Massively parallel sequencing and targeted exomes in familial kidney disease can diagnose underlying genetic disorders.
Mallett Andrew J et al. Kidney international 2017 Aug
- Clinical utility gene card for: Alport syndrome - update 2014.
Hertz Jens Michael et al. European journal of human genetics : EJHG 2015 Sep 23(9)
- DNA variant databases improve test accuracy and phenotype prediction in Alport syndrome.
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
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Disclaimer: Articles listed in the Public Health Knowledge Base are selected by the CDC Office of Public Health Genomics 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.