Results 151 to 160 of about 8,333 (256)

The renal inflammatory network of nephronophthisis.

Human Molecular Genetics, 2022
M. Quatredeniers, Frank Bienaimé, G. Ferri, Pierre Isnard, Esther Porée, K. Billot, Éléonore Birgy, M. Mazloum, Salomé Ceccarelli, F. Silbermann, Simone Braeg, Thao Nguyen-Khoa, Rémi Salomon, Marie-Claire Gubler, E. Kuehn, S. Saunier, A. Viau   +16 more
semanticscholar   +1 more source

Late onset of renal disease in nephronophthisis with features of Joubert syndrome type B [PDF]

, 2001
Thomas Apostolou, N. Nikolopoulou, Marios Theodoridis, V Koumoustiotis, E Pavlopoulou, D Chondros, Athanase Billis   +6 more
openalex   +1 more source

From Variant of Uncertain Significance to Likely Pathogenic: Adult-Onset Nephronophthisis Linked to NPHP4 p.T680M. [PDF]

Kidney Int Rep
Sıla Koç N.
europepmc   +1 more source

Response to the Letter to the Editor Entitled "From Variant of Unknown Significance to Likely Pathogenic: Adult-Onset - Nephronophthisis Linked to NPHP4 p.T680M". [PDF]

Kidney Int Rep
König JC, Dahmer-Heath M, Konrad M.
europepmc   +1 more source

Evaluation of the role of evolutionary conserved polarity mechanisms in the establishment of podocyte architecture

, 2014
Podozyten sind auf Grund ihrer Rolle in der Formierung und dem Erhalt der Schlitzmembran ein essentieller Bestandteil der glomerulären Filtrationsbarriere der Niere. Sowohl Formierung als auch Erhalt der Filtrationsbarriere ist abhängig von der korrekten
Djuric, I. (Ivona)
core  

Nephronophthisis and its Impact on Human Body: A Review

, 2021
K Ashok, M. Babu, P Pugazharasan
openalex   +1 more source

Senior-Løken syndrome with IQCB1/NPHP5 mutation in an adult: a case report. [PDF]

J Med Case Rep
Demirtas İ, Bek SG.
europepmc   +1 more source

The effect of repeated eye examinations and breeding advice on the prevalence and incidence of cataracts and progressive retinal atrophy in German dachshunds over a 13-year period [PDF]

, 2017
Bedford, Bender, Busse, Downs, Falconer, Gelatt, Gresky, Henderson, Mellersh, Mellersh, Mellersh, Mellersh, Mellersh, Miyadera, Miyadera, Muller, Muller, Muller, Muller, Müller, Palanova, Roberts, Ropstad, Ropstad, Stades, Turney, Wiik, Wiik, Zigler, Zigler   +29 more
core   +2 more sources

A ciliopathy combining Joubert syndrome and Oro-Facial-Digital syndrome caused by bi-allelic 5'-UTR loss-of-function CEP83 variant. [PDF]

NPJ Genom Med
Jean MM, Yunis A, Elbaz-Biton T, Dolgin V, Narkis G, Michaelovsky A, Eskin-Schwartz M, Tsitrina AA, Agam N, Poleg T, Safran A, Freund O, Hadar N, Levy D, Shelef I, El Amour K, Flusser H, Birk OS.   +17 more
europepmc   +1 more source

Mutations in ANKS6 Cause a Nephronophthisis-Like Phenotype with ESRD [PDF]

, 2014
Ekim Z. Taşkıran, Emine Korkmaz, Şafak Güçer, Can Koşukçu, Figen Kaymaz, Cansu Koyunlar, Elizabeth C. Bryda, Moumita Chaki, Dongmei Lu, Komal Vadnagara, Cengiz Candan, Rezan Topaloğlu, Franz Schaefer, Massimo Attanasio, Carsten Bergmann, Fatih Özaltın   +15 more
openalex   +1 more source