These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
6. Whole-exome sequencing identifies mutations of TBC1D1 encoding a Rab-GTPase-activating protein in patients with congenital anomalies of the kidneys and urinary tract (CAKUT). Kosfeld A; Kreuzer M; Daniel C; Brand F; Schäfer AK; Chadt A; Weiss AC; Riehmer V; Jeanpierre C; Klintschar M; Bräsen JH; Amann K; Pape L; Kispert A; Al-Hasani H; Haffner D; Weber RG Hum Genet; 2016 Jan; 135(1):69-87. PubMed ID: 26572137 [TBL] [Abstract][Full Text] [Related]
7. Ureter myogenesis: putting Teashirt into context. Lye CM; Fasano L; Woolf AS J Am Soc Nephrol; 2010 Jan; 21(1):24-30. PubMed ID: 19926888 [TBL] [Abstract][Full Text] [Related]
8. Mutations in the leukemia inhibitory factor receptor (LIFR) gene and Lifr deficiency cause urinary tract malformations. Kosfeld A; Brand F; Weiss AC; Kreuzer M; Goerk M; Martens H; Schubert S; Schäfer AK; Riehmer V; Hennies I; Bräsen JH; Pape L; Amann K; Krogvold L; Bjerre A; Daniel C; Kispert A; Haffner D; Weber RG Hum Mol Genet; 2017 May; 26(9):1716-1731. PubMed ID: 28334964 [TBL] [Abstract][Full Text] [Related]
9. Whole-exome sequencing identifies FOXL2, FOXA2 and FOXA3 as candidate genes for monogenic congenital anomalies of the kidneys and urinary tract. Zheng B; Seltzsam S; Wang C; Schierbaum L; Schneider S; Wu CW; Dai R; Connaughton DM; Nakayama M; Mann N; Stajic N; Mane S; Bauer SB; Tasic V; Nam HJ; Shril S; Hildebrandt F Nephrol Dial Transplant; 2022 Sep; 37(10):1833-1843. PubMed ID: 34473308 [TBL] [Abstract][Full Text] [Related]
10. Phenotype expansion of heterozygous FOXC1 pathogenic variants toward involvement of congenital anomalies of the kidneys and urinary tract (CAKUT). Wu CW; Mann N; Nakayama M; Connaughton DM; Dai R; Kolvenbach CM; Kause F; Ottlewski I; Wang C; Klämbt V; Seltzsam S; Lai EW; Selvin A; Senguttuva P; Bodamer O; Stein DR; El Desoky S; Kari JA; Tasic V; Bauer SB; Shril S; Hildebrandt F Genet Med; 2020 Oct; 22(10):1673-1681. PubMed ID: 32475988 [TBL] [Abstract][Full Text] [Related]
11. New congenital anomalies of the kidney and urinary tract and outcomes in Robo2 mutant mice with the inserted piggyBac transposon. Liu J; Sun L; Shen Q; Wu X; Xu H BMC Nephrol; 2016 Jul; 17(1):98. PubMed ID: 27460642 [TBL] [Abstract][Full Text] [Related]
12. Evaluation of insertion/deletion (I/D) polymorphisms of ACE gene and circulating levels of angiotensin II in congenital anomalies of the kidney and urinary tract. Pousa PA; Mendonça TSC; Fonseca LM; Oliveira EA; Belisário AR; Simões E Silva AC Mol Biol Rep; 2022 Jun; 49(6):4341-4347. PubMed ID: 35212925 [TBL] [Abstract][Full Text] [Related]
13. Deciphering the mutation spectrum in south Indian children with congenital anomalies of the kidney and urinary tract. Narikot A; Pardeshi VC; Shubha AM; Iyengar A; Vasudevan A BMC Nephrol; 2022 Jan; 23(1):1. PubMed ID: 34979951 [TBL] [Abstract][Full Text] [Related]
15. Targeted Exome Sequencing Identifies Heidet L; Morinière V; Henry C; De Tomasi L; Reilly ML; Humbert C; Alibeu O; Fourrage C; Bole-Feysot C; Nitschké P; Tores F; Bras M; Jeanpierre M; Pietrement C; Gaillard D; Gonzales M; Novo R; Schaefer E; Roume J; Martinovic J; Malan V; Salomon R; Saunier S; Antignac C; Jeanpierre C J Am Soc Nephrol; 2017 Oct; 28(10):2901-2914. PubMed ID: 28566479 [TBL] [Abstract][Full Text] [Related]
16. GEN1 as a risk factor for human congenital anomalies of the kidney and urinary tract. Du X; Wang C; Liu J; Yu M; Ju H; Xue S; Li Y; Liu J; Dai R; Chen J; Zhai Y; Rao J; Wang X; Sun Y; Sun L; Wu X; Xu H; Shen Q Hum Genomics; 2024 Apr; 18(1):41. PubMed ID: 38654324 [TBL] [Abstract][Full Text] [Related]
17. Inflammation-like changes in the urothelium of Lifr-deficient mice and LIFR-haploinsufficient humans with urinary tract anomalies. Christians A; Weiss AC; Martens H; Klopf MG; Hennies I; Haffner D; Kispert A; Weber RG Hum Mol Genet; 2020 May; 29(7):1192-1204. PubMed ID: 32179912 [TBL] [Abstract][Full Text] [Related]
18. Copy Number Variation Analysis Facilitates Identification of Genetic Causation in Patients with Congenital Anomalies of the Kidney and Urinary Tract. Wu CW; Lim TY; Wang C; Seltzsam S; Zheng B; Schierbaum L; Schneider S; Mann N; Connaughton DM; Nakayama M; van der Ven AT; Dai R; Kolvenbach CM; Kause F; Ottlewski I; Stajic N; Soliman NA; Kari JA; El Desoky S; Fathy HM; Milosevic D; Turudic D; Al Saffar M; Awad HS; Eid LA; Ramanathan A; Senguttuvan P; Mane SM; Lee RS; Bauer SB; Lu W; Hilger AC; Tasic V; Shril S; Sanna-Cherchi S; Hildebrandt F Eur Urol Open Sci; 2022 Oct; 44():106-112. PubMed ID: 36185583 [TBL] [Abstract][Full Text] [Related]
19. PAX2 polymorphisms and congenital abnormalities of the kidney and urinary tract in a Brazilian pediatric population: evidence for a role in vesicoureteral reflux. de Miranda DM; Dos Santos Júnior AC; Dos Reis GS; Freitas IS; Carvalho TG; de Marco LA; Oliveira EA; Simões E Silva AC Mol Diagn Ther; 2014 Aug; 18(4):451-7. PubMed ID: 24633556 [TBL] [Abstract][Full Text] [Related]
20. Deletion in the Kanda S; Ohmuraya M; Akagawa H; Horita S; Yoshida Y; Kaneko N; Sugawara N; Ishizuka K; Miura K; Harita Y; Yamamoto T; Oka A; Araki K; Furukawa T; Hattori M J Am Soc Nephrol; 2020 Jan; 31(1):139-147. PubMed ID: 31862704 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]