Results 171 to 180 of about 4,587 (195)

Agonists of prostaglandin E 2 receptors as potential first in class treatment for nephronophthisis and related ciliopathies

Proceedings of the National Academy of Sciences of the United States of America, 2022
Alice S Serafin, Esther Poree, Amandine Viau   +2 more
exaly  

Nephronophthisis with bronchiectasis.

Child nephrology and urology, 1991
A boy with nephronophthisis and bronchiectasis, a previously unrecognised association is described. Electron-microscopic examination of a renal biopsy from an asymptomatic sibling revealed marked thickening and lamination of the tubular basement membranes.
A, Bagga, A, Vasudev, S K, Kabra, S, Mukhopadhyay, U N, Bhuyan, R, Srivastava   +5 more
openaire   +1 more source

Genetic Background and Clinicopathologic Features of Adult-onset Nephronophthisis

Kidney International Reports, 2021
Takuya Fujimaru, Takayasu Mori, Motoko Chiga   +2 more
exaly  

Copy-number variation of the NPHP1 gene in patients with juvenile Nephronophthisis

Acta Clinica Belgica, 2021
Mayssa Abdelwahed, Mongia Hachicha, Hassen Kamoun   +2 more
exaly  

Ultrasound findings in juvenile nephronophthisis

Pediatric Nephrology, 1996
Douglas L Blowey, Uwe Querfeld, Bradley A Warady   +2 more
exaly  

Broadening the ciliopathy spectrum: Motile cilia dyskinesia, and nephronophthisis associated with a previously unreported homozygous mutation in the INVS/NPHP2 gene

American Journal of Medical Genetics, Part A, 2013
Sarah Keating, Patrick Shannon, David Chitayat   +2 more
exaly  

[Nephronophthisis].

Casopis lekaru ceskych, 1966
R, Gostof, J, Půr, L, Jandová
openaire   +1 more source

Nephronophthisis Registry

Neuropediatrics, 2015
H. Omran, J. König
openaire   +1 more source

Fluorescence in situ hybridization for the diagnosis of NPHP1 deletion–related nephronophthisis on renal biopsy

Human Pathology, 2018
Christopher P Larsen, Stephen M Bonsib, Marjorie L Beggs   +2 more
exaly  

Nephronophthisis

2012
openaire   +1 more source