Last Posted: Sep 29, 2022
- 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
About Rare Diseases PHGKB
Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
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
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.
- Page last reviewed:Feb 1, 2023
- Page last updated:Apr 01, 2023
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