Results 191 to 200 of about 8,333 (256)

Exome sequencing reveals broad genetic heterogeneity for neuromuscular disorders in consanguineous Pakistani Families. [PDF]

Eur J Hum Genet
Aleem T, Rashid M, Ahmad N, Asif MF, Tariq M, Malik NA, Poulter JA.   +6 more
europepmc   +1 more source

Nephronophthisis – various clinical manifestations

, 2017
Maria Daniel, Beata Leszczyńska, Małgorzata Mizerska-Wasiak, Małgorzata Pańczyk-Tomaszewska   +3 more
openalex   +1 more source

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

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

Data Sheet 1_Molecular mechanisms of TTC21B gene mutations in nephronophthisis type 12 and genetic prevention through PGT.docx

Kai Deng (299054), Jingjing Li (7654), Xitao Hu (22684334), Huijuan Wei (2040316), Chenyi Wang (1554715), Qingqing Cheng (301285), Yu Jiang (234328), Liyi Cai (516639), Di Tang (541217), Guiju Cao (22684337), Xiaoyan Wang (8433)   +10 more
openalex   +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

Targeted deletion of the DNA damage response regulator Apoptosis Antagonizing Transcription Factor (AATF) in mice decelerates lung tumorigenesis and causes degenerative renal disease [PDF]

, 2018
Jain, Manaswita
core  

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