Nephronophthisis
What's New
Last Posted: Jan 09, 2024
- Compound heterozygous WDR19 variants associated with nephronophthisis, Caroli disease, refractory epilepsy and congenital bilateral central blindness: Case report.
Xianglian Tang, et al. Heliyon 2024 0 (1) e23257 - Two rare copy number variants involving loss of NPHP1, MALL, and MTLN genes contribute to nephronophthisis-induced nephropathy progression in a family: A case report.
C H Liu, et al. Nigerian journal of clinical practice 2023 0 (4) 524-527 - [Unexpected diagnosis of nephronopthisis in the genetic study of hypertension due to histological diagnosis of benign nephroangioesclerosis evolved in a young caucasian patient].
Heras Benito M, et al. Hipertension y riesgo vascular 2023 0 - Molecular Study of Nephronophthisis in 7 Unrelated Pakistani Families.
Hussain Sofia, et al. Iranian journal of kidney diseases 2018 0 (4) 240-242 - Two Chinese nephronophthisis pedigrees harbored a compound heterozygous deletion with a point mutation in NPHP1.
Chen Huamu, et al. International journal of molecular epidemiology and genetics 2019 0 (4) 53-58 - COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans.
Kitzler Thomas M, et al. Human genetics 2019 0 (10) 1105-1115 - Phenotype and genotype spectra of a Chinese cohort with nephronophthisis-related ciliopathy.
Tang Xiaoshan, et al. Journal of medical genetics 2020 0 (2) 147-154 - Living donor liver transplantation for congenital hepatic fibrosis in children.
Irie Rie, et al. Pathology international 2020 0 (6) 348-354 - Whole exome sequencing identifies monogenic forms of nephritis in a previously unsolved cohort of children with steroid-resistant nephrotic syndrome and hematuria.
Xiao Hongbo, et al. Pediatric nephrology (Berlin, Germany) 2021 0 (7) 1567-1574 - Refining Kidney Survival in 383 Genetically Characterized Patients With Nephronophthisis.
König Jens Christian, et al. Kidney international reports 2022 0 (9) 2016-2028
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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:Apr 18, 2024
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