Mitochondrial Disease and the Kidney With a Special Focus on CoQ10 Deficiency.
Kidney International Reports
Schijvens, Anne M AM; van de Kar, Nicole C NC; Bootsma-Robroeks, Charlotte M CM; Cornelissen, Elisabeth A EA; van den Heuvel, Lambertus P LP; Schreuder, Michiel F MF
Publication Date: 2020-12
Variant appearance in text: NPHS1: 881C>T; Thr294Ile
COQ2 nephropathy: a treatable cause of nephrotic syndrome in children.
Pediatric Nephrology (Berlin, Germany)
Starr, Michelle C MC; Chang, Irene J IJ; Finn, Laura S LS; Sun, Angela A; Larson, Austin A AA; Goebel, Jens J; Hanevold, Coral C; Thies, Jenny J; Van Hove, Johan L K JLK; Hingorani, Sangeeta R SR; Lam, Christina C
The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.
Genome Medicine
Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM
Publication Date: 2016-07-26
Variant appearance in text: NPHS1: 881C>T; T294I; rs113825926
Molecular analysis of urothelial cancer cell lines for modeling tumor biology and drug response.
Oncogene
Nickerson, M L ML; Witte, N N; Im, K M KM; Turan, S S; Owens, C C; Misner, K K; Tsang, S X SX; Cai, Z Z; Wu, S S; Dean, M M; Costello, J C JC; Theodorescu, D D
Publication Date: 2017-01-05
Variant appearance in text: NPHS1: T294I; rs113825926
Simultaneous sequencing of 24 genes associated with steroid-resistant nephrotic syndrome.
Clinical Journal Of The American Society Of Nephrology : Cjasn
McCarthy, Hugh J HJ; Bierzynska, Agnieszka A; Wherlock, Matt M; Ognjanovic, Milos M; Kerecuk, Larissa L; Hegde, Shivaram S; Feather, Sally S; Gilbert, Rodney D RD; Krischock, Leah L; Jones, Caroline C; Sinha, Manish D MD; Webb, Nicholas J A NJ; Christian, Martin M; Williams, Margaret M MM; Marks, Stephen S; Koziell, Ania A; Welsh, Gavin I GI; Saleem, Moin A MA; ,
Publication Date: 2013-04
Variant appearance in text: NPHS1: Thr294Ile; rs113825926