Nephrocalcinosis
What's New
Last Posted: Feb 16, 2023
- A Clinical Workflow for Cost-Saving High-Rate Diagnosis of Genetic Kidney Diseases.
Francesca Becherucci et al. Journal of the American Society of Nephrology : JASN 2023 - A Study on the CLCN5 Gene in Iranian Patients: A Report of Novel and Recurrent Mutations.
Mollataheri Ali et al. Nephron 2023 1-8 - Overlapping Phenotypes Associated With CYP24A1, SLC34A1, and SLC34A3 Mutations: A Cohort Study of Patients With Hypersensitivity to Vitamin D.
Molin Arnaud et al. Frontiers in endocrinology 2021 12736240 - mTOR-Activating Mutations in RRAGD are Causative for Kidney Tubulopathy and Cardiomyopathy.
Schlingmann Karl-Peter et al. Journal of the American Society of Nephrology : JASN 2021 - Genetics of kidney stone disease-Polygenic meets monogenic.
Halbritter Jan et al. Nephrologie & therapeutique 2021 17SS88-S94 - Clinical features of genetically confirmed patients with primary hyperoxaluria identified by clinical indication versus familial screening.
Sas David J et al. Kidney international 2019 Dec - Treatment and long-term outcome in primary distal renal tubular acidosis.
Lopez-Garcia Sergio Camilo et al. Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2019 Feb - Mimicry and well known genetic friends: molecular diagnosis in an Iranian cohort of suspected Bartter syndrome and proposition of an algorithm for clinical differential diagnosis.
Najafi Maryam et al. Orphanet journal of rare diseases 2019 Feb 14(1) 41 - Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis.
Daga Ankana et al. Kidney international 2018 93(1) 204-213 - Recent advances in the identification and management of inherited hyperoxalurias.
Sas David J et al. Urolithiasis 2018 Dec - Dent disease in Poland: what we have learned so far?
Zaniew Marcin et al. International urology and nephrology 2017 Nov 49(11) 2005-2017 - CLINGEN Actionability Report for Hypophosphatasia-ALPL
ClinGen Actionability Working Group - CLINGEN Actionability Report for Hypophosphatemic rickets, X-linked dominant-PHEX
ClinGen Actionability Working Group - Genotype-Phenotype Analysis in Pediatric Patients with Distal Renal Tubular Acidosis.
Park Eujin et al. Kidney & blood pressure research 2018 Mar 43(2) 513-521 - A rapid screening of a recurrent CYP24A1 pathogenic variant opens the way to molecular testing for Idiopathic Infantile Hypercalcemia (IIH).
De Paolis Elisa et al. Clinica chimica acta; international journal of clinical chemistry 2018 Mar - Update on Hereditary Kidney Stone Disease and Introduction of a New Clinical Patient Registry in Germany.
Halbritter Jan et al. Frontiers in pediatrics 2018 647 - Updated genetic testing of Italian patients referred with a clinical diagnosis of primary hyperoxaluria.
Pelle Alessandra et al. Journal of nephrology 2017 Apr 30(2) 219-225 - Clinical utility gene card for: familial hypomagnesemia with hypercalciuria and nephrocalcinosis with/without severe ocular involvement.
- Amelogenesis imperfecta nephrocalcinosis
From NCATS Genetic and Rare Diseases Information Center - Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis
From NCATS Genetic and Rare Diseases Information Center
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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
Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- 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
- Page last updated:May 07, 2024
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