Results 111 to 120 of about 4,241 (146)

Long-read technologies identify a hidden LINE-1/ERV1 insertion in IQCB1 as causative variant for Senior-Løken syndrome. [PDF]

NPJ Genom Med
de Bruijn SE, Ingeborgh van den Born L, Derks R, Haer-Wigman L, O'Gorman L, Cremers FPM, van Beek R, Hoischen A, Roosing S, Neveling K.   +9 more
europepmc   +1 more source

Use of patient-derived cell models for characterization of compound heterozygous hypomorphic C2CD3 variants in a patient with isolated nephronophthisis. [PDF]

Hum Mol Genet
Sentell ZT, Mougharbel L, Nurcombe ZW, Babayeva S, Henein M, Chu LL, Akpa MM, Chung CF, Rivière JB, Pupavac M, Li R, Rosenblatt DS, Majewski J, Goodyer PR, Torban E, Kitzler TM.   +15 more
europepmc   +1 more source

The nephronophthisis protein GLIS2/NPHP7 is required for the DNA damage response in kidney tubular epithelial cells [PDF]

Lena K. Ebert, Lukas Schloesser, Laura E. Frech, Manaswita Jain, Claudia Dafinger, Max C. Liebau, Thomas Benzing, Bernhard Schermer, Gisela G. Slaats   +8 more
openalex   +1 more source

A Case of Horseshoe Kidney and Autosomal Dominant Polycystic Kidney Disease with <i>PKD1</i> Gene Mutation. [PDF]

J Clin Med
Kim H, Lee SJ, Kim W.
europepmc   +1 more source

Metabolic reprogramming in polycystic kidney disease and other renal ciliopathies. [PDF]

EMBO Mol Med
Clerici S, Boletta A.
europepmc   +1 more source

A Unique Case of Joubert Syndrome with Concurrent IgA Nephropathy and Nephronophthisis in an Adult Patient. [PDF]

Indian J Nephrol
Shankar M, Anusha V, Shetty A, Sreedhara CG, Vinay KS, Aralapuram K, Reddy GG.   +6 more
europepmc   +1 more source

Juvenile nephronophthisis type Ⅰ：a case report and literature review

Linchuang shenzangbing zazhi
Qian Chan, Mao Zhi-yan, Li Shu-fen, Wang Fei-yan   +3 more
doaj   +3 more sources

Framework for standardized genetic testing recommendations for chronic kidney disease in Ontario. [PDF]

Genet Med Open
Du A, Lemay K, Bagga A, Bhola PT, Brown PA, Colaiacovo S, Charames GS, Lemaire M, Lanktree MB, Schenkel L, Peña LG, Riddell S, Watkins N, Young T, Yu W, Bell K, Kim RH, Connaughton DM, Ontario Health Provincial Genetics Program Renal Genetics Expert Group.   +18 more
europepmc   +1 more source

Simultaneous Liver and Kidney Transplant in a Middle-Income Country: A Single-Center Experience. [PDF]

Ann Transplant
Peña-Blanco L, Santamaría-Rodriguez P, Beltrán-Villegas S, Montoya-Beltrán JS, Ramírez NA, Benavides CA, Montes FR.   +6 more
europepmc   +1 more source

Nephronophthisis 13 caused by WDR19 variants with pancytopenia: case report. [PDF]

CEN Case Rep
Tanaka Y, Horinouchi T, Inoki Y, Ichikawa Y, Ueda C, Kitakado H, Kondo A, Sakakibara N, Nagano C, Yano Y, Yoshikawa N, Morisada N, Nozu K.   +12 more
europepmc   +1 more source