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.
9. A rare deep intronic mutation of PKHD1 gene, c.8798-459 C > A, causes autosomal recessive polycystic kidney disease by pseudoexon activation. Chen J; Ma N; Zhao X; Li W; Zhang Q; Yuan S; Tan YQ; Lu G; Lin G; Du J J Hum Genet; 2019 Mar; 64(3):207-214. PubMed ID: 30617278 [TBL] [Abstract][Full Text] [Related]
10. Clinical and molecular characterization defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD). Adeva M; El-Youssef M; Rossetti S; Kamath PS; Kubly V; Consugar MB; Milliner DM; King BF; Torres VE; Harris PC Medicine (Baltimore); 2006 Jan; 85(1):1-21. PubMed ID: 16523049 [TBL] [Abstract][Full Text] [Related]
12. Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1). Bergmann C; Senderek J; Sedlacek B; Pegiazoglou I; Puglia P; Eggermann T; Rudnik-Schöneborn S; Furu L; Onuchic LF; De Baca M; Germino GG; Guay-Woodford L; Somlo S; Moser M; Büttner R; Zerres K J Am Soc Nephrol; 2003 Jan; 14(1):76-89. PubMed ID: 12506140 [TBL] [Abstract][Full Text] [Related]
13. Transcriptional complexity in autosomal recessive polycystic kidney disease. Frank V; Zerres K; Bergmann C Clin J Am Soc Nephrol; 2014 Oct; 9(10):1729-36. PubMed ID: 25104275 [TBL] [Abstract][Full Text] [Related]
14. Clinical and pathological features of a neonate with autosomal recessive polycystic kidney disease caused by a nonsense PKHD1 mutation. Zhou XH; Hui ZY; Li Y World J Pediatr; 2013 Feb; 9(1):76-9. PubMed ID: 23389334 [TBL] [Abstract][Full Text] [Related]
15. Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis. Melchionda S; Palladino T; Castellana S; Giordano M; Benetti E; De Bonis P; Zelante L; Bisceglia L J Hum Genet; 2016 Sep; 61(9):811-21. PubMed ID: 27225849 [TBL] [Abstract][Full Text] [Related]
16. Fatal outcome of autosomal recessive polycystic kidney disease in neonates with recessive PKHD1 mutations. Jung J; Seo GH; Kim YM; Han YM; Park JK; Kim GH; Lee JH; Park YS; Lee BS; Kim EA; Lee PR; Lee BH Medicine (Baltimore); 2020 May; 99(19):e20113. PubMed ID: 32384486 [TBL] [Abstract][Full Text] [Related]
17. A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees. Rossetti S; Torra R; Coto E; Consugar M; Kubly V; Málaga S; Navarro M; El-Youssef M; Torres VE; Harris PC Kidney Int; 2003 Aug; 64(2):391-403. PubMed ID: 12846734 [TBL] [Abstract][Full Text] [Related]
18. Atmin modulates Pkhd1 expression and may mediate Autosomal Recessive Polycystic Kidney Disease (ARPKD) through altered non-canonical Wnt/Planar Cell Polarity (PCP) signalling. Richards T; Modarage K; Dean C; McCarthy-Boxer A; Hilton H; Esapa C; Norman J; Wilson P; Goggolidou P Biochim Biophys Acta Mol Basis Dis; 2019 Feb; 1865(2):378-390. PubMed ID: 30414501 [TBL] [Abstract][Full Text] [Related]