Results 111 to 120 of about 6,344 (210)

Genetic background of nonmutant Piebald-Virol-Glaxo rats does not influence nephronophthisis phenotypes

International Journal of Nephrology and Renovascular Disease, 2013
Jada Pasquale Yengkopiong, Joseph Daniel Wani LakoJohn Garang Memorial University of Science and Technology, Faculty of Science and Technology, Bor, Jonglei State, Republic of South SudanBackground: Nephronophthisis (NPHP), which affects multiple organs,
Yengkopiong JP, Lako JD
doaj  

Renal Tubule-Specific Deletion of Nephrocystin 3 <i>(Nphp3)</i> Causes Infantile Nephronophthisis-like Phenotypes in Mice. [PDF]

Int J Mol Sci
Du X, Wang C, Fang Y, Wang G, Zhai Y, Shen Q, Tang X, Xu H.   +7 more
europepmc   +1 more source

The Case ∣ Familial occurrence of retinitis pigmentosa, deafness, and nephropathy. [PDF]

, 2011
Foini P, Izzi C, Maffei P, Marega A, Marshall J, Milan G, Scolari F., Tardanico R   +7 more
core   +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

Current insights into renal ciliopathies: what can genetics teach us? [PDF]

core   +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

CILIOPATIAS E DOENÇA RENAL [PDF]

, 2012
Francisco Fabião Fernandes Correia Gouveia
core  

Early-onset kidney failure in a girl with autosomal dominant tubulointerstitial kidney disease due to a de novo UMOD variant. [PDF]

CEN Case Rep
Tomori S, Miura K, Shirai Y, Hashimoto T, Hada I, Kurayama R, Morisada N, Nozu K, Hattori M.   +8 more
europepmc   +1 more source

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

The dynamic cilium in human diseases [PDF]

, 2009
Anna D'Angelo, Brunella Franco, P Satir, B Basu, S Nonaka, BP Menco, M Yamamoto, PM Andrews, FS Sjostrand, K Feistel, LM Quarmby, KG Kozminski, DG Cole, GJ Pazour, D Signor, A Jurczyk, V Singla, AI Masyuk, PN Inglis, A Gherman, LE Ostrowski, H Omran, A Fernandez-Gonzalez, CW Wilson, B Banizs, I Ibanez-Tallon, L Eley, A Robert, MR Mahjoub, EN Pugacheva, The European Polycystic Kidney Disease Consortium, DJ Peters, V Chauvet, AK Bhunia, X Li, OV Plotnikova, KC Corbit, SR May, R Rohatgi, JJ Kovacs, D Huangfu, MI Ferrante, CJ Haycraft, D Huangfu, A Liu, PJ Ocbina, M Simons, D Morgan, D Watanabe, AJ Ross, E Torban, E Torban, TJ Park, JM Gerdes, KC Corbit, TJ Park, N Kishimoto, L Schneider, JL Badano, M Fliegauf, BW Bisgrove, BA Afzelius, MA Zariwala, JL Blouin, H Omran, G Pennarun, H Olbrich, L Bartoloni, NT Loges, B Duriez, VH Castleman, L Bartoloni, J Horvath, J Neesen, A Moore, J Tallila, L Baala, M Kyttala, M Delous, UM Smith, H Karmous-Benailly, V Frank, L Baala, S Rossetti, K Hanaoka, A Boletta, CJ Ward, I Kim, E Fischer, S Shibazaki, JA Jonassen, F Hildebrandt, RJ Simms, H Olbrich, EA Otto, EA Otto, M Attanasio, J Helou, F Hildebrandt, E Otto, MT Wolf, EA Otto, T Yokoyama, D Shiba, EM Valente, MA Parisi, EM Valente, HH Arts, JA Sayer, EM Valente, NA Adams, DH Hong, Q Liu, Q Liu, X Guillonneau, LS Sullivan, A Meindl, G Caridi, L Romio, MI Ferrante, M Morleo, DY Nishimura, N Katsanis, C Stoetzel, SJ Ansley, JB Li, K Mykytyn, JL Badano, K Mykytyn, AP Chiang, AP Chiang, DY Nishimura, C Stoetzel, CC Leitch, N Katsanis, NA Zaghloul, MV Nachury, G Ou, HJ Yen, JC Kim, HM Kulaga, T Hearn, GB Collin, T Hearn, G Li, JT Eggenschwiler, NS Murcia, AK Hadjantonakis, S Cortellino, T Caspary, VV Chizhikov, N Spassky, YG Han, JJ Breunig, MA Willaredt, M Gorivodsky, K Piontek, JR Davenport, ET Johnson, SK Nielsen, K Mykytyn, MA Fath, DY Nishimura, K Rahmouni, S Seo, V Marion   +165 more
core   +1 more source