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.
199 related articles for article (PubMed ID: 33123899)
1. Possible PKHD1 Hot-spot Mutations Related to Early Kidney Function Failure or Hepatofibrosis in Chinese Children with ARPKD: A Retrospective Single Center Cohort Study and Literature Review. Qiu LR; Xu RR; Tang JH; Zhou JH Curr Med Sci; 2020 Oct; 40(5):835-844. PubMed ID: 33123899 [TBL] [Abstract][Full Text] [Related]
2. Clinical and genetic characteristics of autosomal recessive polycystic kidney disease in Oman. Al Alawi I; Molinari E; Al Salmi I; Al Rahbi F; Al Mawali A; Sayer JA BMC Nephrol; 2020 Aug; 21(1):347. PubMed ID: 32799815 [TBL] [Abstract][Full Text] [Related]
3. Analysis of missense variants in the PKHD1-gene in patients with autosomal recessive polycystic kidney disease (ARPKD). Losekoot M; Haarloo C; Ruivenkamp C; White SJ; Breuning MH; Peters DJ Hum Genet; 2005 Nov; 118(2):185-206. PubMed ID: 16133180 [TBL] [Abstract][Full Text] [Related]
4. Challenges in establishing genotype-phenotype correlations in ARPKD: case report on a toddler with two severe PKHD1 mutations. Ebner K; Dafinger C; Ortiz-Bruechle N; Koerber F; Schermer B; Benzing T; Dötsch J; Zerres K; Weber LT; Beck BB; Liebau MC Pediatr Nephrol; 2017 Jul; 32(7):1269-1273. PubMed ID: 28364132 [TBL] [Abstract][Full Text] [Related]
5. 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]
6. Comprehensive genetic testing in children with a clinical diagnosis of ARPKD identifies phenocopies. Szabó T; Orosz P; Balogh E; Jávorszky E; Máttyus I; Bereczki C; Maróti Z; Kalmár T; Szabó AJ; Reusz G; Várkonyi I; Marián E; Gombos É; Orosz O; Madar L; Balla G; Kappelmayer J; Tory K; Balogh I Pediatr Nephrol; 2018 Oct; 33(10):1713-1721. PubMed ID: 29956005 [TBL] [Abstract][Full Text] [Related]
14. Characteristics of congenital hepatic fibrosis in a large cohort of patients with autosomal recessive polycystic kidney disease. Gunay-Aygun M; Font-Montgomery E; Lukose L; Tuchman Gerstein M; Piwnica-Worms K; Choyke P; Daryanani KT; Turkbey B; Fischer R; Bernardini I; Sincan M; Zhao X; Sandler NG; Roque A; Douek DC; Graf J; Huizing M; Bryant JC; Mohan P; Gahl WA; Heller T Gastroenterology; 2013 Jan; 144(1):112-121.e2. PubMed ID: 23041322 [TBL] [Abstract][Full Text] [Related]
15. 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]
16. PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis. Gunay-Aygun M; Tuchman M; Font-Montgomery E; Lukose L; Edwards H; Garcia A; Ausavarat S; Ziegler SG; Piwnica-Worms K; Bryant J; Bernardini I; Fischer R; Huizing M; Guay-Woodford L; Gahl WA Mol Genet Metab; 2010 Feb; 99(2):160-73. PubMed ID: 19914852 [TBL] [Abstract][Full Text] [Related]
17. [Genetic diagnosis of Caroli syndrome with autosomal recessive polycystic kidney disease: a case report and literature review]. Yang XY; Zhu LP; Liu XQ; Zhang CY; Yao Y; Wu Y Beijing Da Xue Xue Bao Yi Xue Ban; 2018 Apr; 50(2):335-339. PubMed ID: 29643536 [TBL] [Abstract][Full Text] [Related]
18. Novel compound heterozygous PKHD1 mutations cause autosomal recessive polycystic kidney disease in a Han Chinese family. Wang J; Qi D; Yang J; Zhang D; Wang Q; Ju X; Zhong X Mol Med Rep; 2019 Dec; 20(6):5059-5063. PubMed ID: 31638247 [TBL] [Abstract][Full Text] [Related]