Results 91 to 100 of about 4,587 (195)

Compound heterozygous WDR19 variants associated with nephronophthisis, Caroli disease, refractory epilepsy and congenital bilateral central blindness: Case report

Heliyon
The WDR19 gene has been reported to be involved in nephronophthisis-related ciliopathies such as isolated nephronophthisis 13 (NPHP13), Sensenbrenner syndrome, Jeune syndrome, Senior-Loken syndrome, Caroli disease, retinitis pigmentosa and ...
Xianglian Tang, Sheng Yi, Zailong Qin, Shang Yi, Junjie Chen, Qi Yang, Shanshan Li, Jingsi Luo   +7 more
doaj   +1 more source

Poster Session 1

Pregnancy, Volume 2, Issue S1, January 2026.
wiley   +1 more source

Nephronophthisis

Nephronophthisis (NPHP) is an autosomal recessive kidney disorder characterized by chronic tubulointerstitial nephritis and leading to end-stage renal failure.
Sayer JA, Eley L, Simms RJ
core  

Radiological features of Joubert syndrome and clinical case presentation

Radiology Case Reports
Joubert Syndrome, manifests in a spectrum of neurological symptoms. This case describes a 7-year-old girl with perinatal complications, and subsequent neurodevelopmental challenges. An MRI confirmed the diagnosis of Joubert syndrome, with the distinctive
Jorge Ariel Montero Torres, MD, Bruno Flores Escobar, MD, Julian Guzman Martinez, MD, Ricardo Alfonso Barrera Martínez, MD, Frida Priscila Hernández Cortez, MD   +4 more
doaj   +1 more source

Nephronophthisis: a genetically diverse ciliopathy [PDF]

Nephronophthisis (NPHP) is an autosomal recessive cystic kidney disease and a leading genetic cause of established renal failure (ERF) in children and young adults.
Sayer JA, Eley L, Hynes AM, Simms RJ
core  

Nephritic-nephrotic syndrome as a presentation of BK virus infection

Saudi Journal of Kidney Diseases and Transplantation, 2011
BK virus (BKV) is increasingly found as an important cause of allograft nephro-pathy. Nephrotic syndrome is not a usual manifestation of BKV nephropathy.
Nima Derakhshan, Dorna Derakhshan, Simin Torabinejad, Ali Derakhshan   +3 more
doaj  

A case of nephronophthisis discovered due to pregnancy with review of literatures

A 20-year-old woman presented to the Department of Obstetrics and Gynecology of our hospital for a prenatal checkup at 33 weeks’ gestation. No abnormalities had been ever found in routine urine testing at school health checkups.
Mori, Atsushi, Nishino, Tomoya, Mukae, Hiroshi, Nakazawa, Masayuki, Oka, Satoru, Obata, Yoko, Morisada, Naoya, Iijima, Kazumoto   +7 more
core  

Mapping of Gene Loci for Nephronophthisis Type 4 and Senior-Løken Syndrome, to Chromosome 1p36

, 2002
For nephronophthisis (NPHP), the primary genetic cause of chronic renal failure in young adults, three loci have been mapped. To identify a new locus for NPHP, we here report on total-genome linkage analysis in seven families with NPHP, in whom we had ...
Hildebrandt, Friedhelm, Hoefele, J., Saar, K., Becker, A., Otto, E., Hildebrandt, F., Haller, M., Wiedensohler, Alexander, Omran, H., Ala-Mello, Sirpa, Wiedensohler, A., Ala-Mello, S., Omran, Heymut, Nuernberg, P., Nürnberg, Peter, Otto, Edgar, Haller, Maria, Hoefele, Julia, Saar, Kathrin, Rueschendorf, F., Becker, Achim, Polak, B.C., Schuermann, Maria J., Rüschendorf, Franz, Schuermann, M.J., Saar, Katrin, Polak, Bettine C.   +26 more
core   +1 more source

Calpain1 inhibition enhances autophagy-lysosomal pathway and ameliorates tubulointerstitial fibrosis in Nephronophthisis

Molecular Medicine
Background Nephronophthisis (NPH) is classified under the category of renal ciliopathies and is the most common genetic disease leading to renal failure in children. Early-onset and progressive renal tubulointerstitial fibrosis represents one of the most
Dantong Li, Jinglan Zhang, Xinyu Su, Yichen Yang, Jiayong Lai, Xiaoya Wei, Huamu Chen, Yaqing Liu, Haiyan Wang, Liangzhong Sun   +9 more
doaj   +1 more source

Nephronophthisis: a variant.

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP, 2005
The case report describes a young boy with renal, retinal, hepatic and cerebellar involvement in a rare syndrome. He had polyuria, deranged renal functions and cystic lesions in kidneys, which led to the diagnosis of nephronophthisis (NPH). Extra-renal involvement with night blindness, truncal ataxia, mental retardation and hepatosplenomegaly.
Farkhanda, Hafeez, Farooq, Rasool, Tahir Masood, Ahmad   +2 more
openaire   +1 more source