165 related articles for article (PubMed ID: 32481435)
1. A Chinese family of autosomal recessive polycystic kidney disease identified by whole exome sequencing.
Zhang J; Dai LM; Li FR; Zhang B; Zhao JH; Cheng JB
Medicine (Baltimore); 2020 May; 99(22):e20413. PubMed ID: 32481435
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Exome sequencing identifies compound heterozygous PKHD1 mutations as a cause of autosomal recessive polycystic kidney disease.
Zhang D; Lu L; Yang HB; Li M; Sun H; Zeng ZP; Li XP; Xia WB; Xing XP
Chin Med J (Engl); 2012 Jul; 125(14):2482-6. PubMed ID: 22882926
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. A novel mutation identified in PKHD1 by targeted exome sequencing: guiding prenatal diagnosis for an ARPKD family.
Xu Y; Xiao B; Jiang WT; Wang L; Gen HQ; Chen YW; Sun Y; Ji X
Gene; 2014 Nov; 551(1):33-8. PubMed ID: 25153916
[TBL] [Abstract][Full Text] [Related]
6. [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]
7. Case Report: Whole-exome analysis of a child with polycystic kidney disease and ventriculomegaly.
Nabhan MM; Abdelaziz H; Xu Y; El Sayed R; Santibanez-Koref M; Soliman NA; Sayer JA
Genet Mol Res; 2015 Apr; 14(2):3618-24. PubMed ID: 25966130
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. Hepatorenal findings in obligate heterozygotes for autosomal recessive polycystic kidney disease.
Gunay-Aygun M; Turkbey BI; Bryant J; Daryanani KT; Gerstein MT; Piwnica-Worms K; Choyke P; Heller T; Gahl WA
Mol Genet Metab; 2011 Dec; 104(4):677-81. PubMed ID: 21945273
[TBL] [Abstract][Full Text] [Related]
11. Detection of DZIP1L mutations by whole-exome sequencing in consanguineous families with polycystic kidney disease.
Hertz JM; Svenningsen P; Dimke H; Engelund MB; Nørgaard H; Hansen A; Marcussen N; Thiesson HC; Bergmann C; Larsen MJ
Pediatr Nephrol; 2022 Nov; 37(11):2657-2665. PubMed ID: 35211789
[TBL] [Abstract][Full Text] [Related]
12. Molecular genetic analysis of PKHD1 by next-generation sequencing in Czech families with autosomal recessive polycystic kidney disease.
Obeidova L; Seeman T; Elisakova V; Reiterova J; Puchmajerova A; Stekrova J
BMC Med Genet; 2015 Dec; 16():116. PubMed ID: 26695994
[TBL] [Abstract][Full Text] [Related]
13. The genetics of Autosomal Recessive Polycystic Kidney Disease (ARPKD).
Goggolidou P; Richards T
Biochim Biophys Acta Mol Basis Dis; 2022 Apr; 1868(4):166348. PubMed ID: 35032595
[TBL] [Abstract][Full Text] [Related]
14. Molecular and cellular pathophysiology of autosomal recessive polycystic kidney disease (ARPKD).
Sweeney WE; Avner ED
Cell Tissue Res; 2006 Dec; 326(3):671-85. PubMed ID: 16767405
[TBL] [Abstract][Full Text] [Related]
15. Cilia and polycystic kidney disease.
Ma M
Semin Cell Dev Biol; 2021 Feb; 110():139-148. PubMed ID: 32475690
[TBL] [Abstract][Full Text] [Related]
16. Use of patient derived urine renal epithelial cells to confirm pathogenicity of PKHD1 alleles.
Molinari E; Srivastava S; Dewhurst RM; Sayer JA
BMC Nephrol; 2020 Oct; 21(1):435. PubMed ID: 33059616
[TBL] [Abstract][Full Text] [Related]
17. Next-generation sequencing for molecular diagnosis of autosomal recessive polycystic kidney disease.
Edrees BM; Athar M; Al-Allaf FA; Taher MM; Khan W; Bouazzaoui A; Al-Harbi N; Safar R; Al-Edressi H; Alansary K; Anazi A; Altayeb N; Ahmed MA; Abduljaleel Z
Gene; 2016 Oct; 591(1):214-226. PubMed ID: 27401137
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Compound heterozygous PKHD1 variants cause a wide spectrum of ductal plate malformations.
Courcet JB; Minello A; Prieur F; Morisse L; Phelip JM; Beurdeley A; Meynard D; Massenet D; Lacassin F; Duffourd Y; Gigot N; St-Onge J; Hillon P; Vanlemmens C; Mousson C; Cerceuil JP; Guiu B; Thevenon J; Thauvin-Robinet C; Jacquemin E; Rivière JB; Michel-Calemard L; Faivre L
Am J Med Genet A; 2015 Dec; 167A(12):3046-53. PubMed ID: 26385851
[TBL] [Abstract][Full Text] [Related]
20. [Clinical characteristics and genetic analysis of a child with autosomal recessive polycystic kidney disease].
Gao S; Li Q; Dai P; Zhao G; Kong X
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Oct; 39(10):1103-1106. PubMed ID: 36184092
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]