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Public Health Genomics and Precision Health Knowledge Base (v9.0)
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Public Health Genomics Branch
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Precision Health Database|Search|Public Health Genomics and Precision Health Knowledge Base (PHGKB)
Primary Immune Deficiency Diseases
Last data update: May 09, 2024
. (Total: 63814 Documents since 2012)
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Genotypic analysis of a large cohort of patients with suspected atypical hemolytic uremic syndrome.
Dervla M Connaughton et al. J Mol Med (Berl) 2023
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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
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Improved Renal Recovery with Eculizumab Therapy among Children with High Prevalence of Mutation-Associated Atypical Hemolytic Uremic Syndrome: A Retrospective Cohort Study.
Bamhraz Abdulaziz A et al. Kidney & blood pressure research 2020 Nov 1-16
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Genetic Testing in Pediatric Kidney Disease.
Arora Veronica et al. Indian journal of pediatrics 2020 Feb
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Genetic Analysis of 400 Patients Refines Understanding and Implicates a New Gene in Atypical Hemolytic Uremic Syndrome.
Bu Fengxiao et al. Journal of the American Society of Nephrology : JASN 2018 Oct
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Combined study of ADAMTS13 and complement genes in the diagnosis of thrombotic microangiopathies using next-generation sequencing.
Fidalgo Teresa et al. Research and practice in thrombosis and haemostasis 2017 Jul 1(1) 69-80
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Atypical Hemolytic Uremic Syndrome: A Meta-Analysis of Case Reports Confirms the Prevalence of Genetic Mutations and the Shift of Treatment Regimens.
Krishnappa Vinod et al. Therapeutic apheresis and dialysis : official peer-reviewed journal of the International Society for Apheresis, the Japanese Society for Apheresis, the Japanese Society for Dialysis Therapy 2017 Dec
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Targeted exome sequencing in anti-factor H antibody negative HUS reveals multiple variations.
Thergaonkar R W et al. Clinical and experimental nephrology 2017 Sep
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Massively parallel sequencing and targeted exomes in familial kidney disease can diagnose underlying genetic disorders.
Mallett Andrew J et al. Kidney international 2017 Aug
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High-Throughput Genetic Testing for Thrombotic Microangiopathies and C3 Glomerulopathies.
Bu Fengxiao et al. J. Am. Soc. Nephrol. 2015 Aug 17.
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Page last reviewed:
Feb 1, 2024
Page last updated:
May 09, 2024
Content source:
Public Health Genomics Branch in the Division of Blood Disorders and Public Health Genomics
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National Center on Birth Defects and Developmental Disabilities
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