BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

146 related articles for article (PubMed ID: 32924121)

  • 1. [Gene variant analysis of a fetus with autosomal recessive polycystic kidney disease].
    Yu X; Li S; Liu F; Liu L; Zhang H
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Oct; 37(10):1143-1145. PubMed ID: 32924121
    [TBL] [Abstract][Full Text] [Related]  

  • 2. [Clinical feature and genetic analysis of a fetus with autosomal recessive polycystic kidney disease].
    Xyu S; Xyu C; Lyu Y; Li C; Liu C
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Sep; 38(9):880-883. PubMed ID: 34487536
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. [Analysis of PKHD1 gene mutation in a family affected with infantile polycystic kidney disease].
    Xiang Y; Li H; Xu C; Dong X; Xu X; Chen C; Tang S
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2016 Oct; 33(5):662-5. PubMed ID: 27577217
    [TBL] [Abstract][Full Text] [Related]  

  • 5. [Diagnosis of a case of autosomal recessive polycystic kidney disease with combined prenatal imaging and genetic testing].
    Lu Y; Liu H; Wu H; Liu L; Wang T
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Jun; 38(6):585-588. PubMed ID: 34096032
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. 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]  

  • 8. PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD).
    Bergmann C; Senderek J; Schneider F; Dornia C; Küpper F; Eggermann T; Rudnik-Schöneborn S; Kirfel J; Moser M; Büttner R; Zerres K
    Hum Mutat; 2004 May; 23(5):487-95. PubMed ID: 15108281
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Prenatal diagnosis of autosomal recessive polycystic kidney disease by molecular genetic analysis.
    Jang DG; Chae H; Shin JC; Park IY; Kim M; Kim Y
    J Obstet Gynaecol Res; 2011 Nov; 37(11):1744-7. PubMed ID: 21790888
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. 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]  

  • 12. 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]  

  • 13. [Prenatal diagnosis and genetic counseling in two pedigrees affected with infantile polycystic kidney disease due to PKHD1 gene mutations].
    Cao Q; Zhang W; Ge J; Sun D; Feng Q; Li C; Meng Y; Zhu J
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Aug; 36(8):765-768. PubMed ID: 31400123
    [TBL] [Abstract][Full Text] [Related]  

  • 14. [Phenotype and genetic analysis of three patients with PKHD1 associated autosomal recessive polycystic kidney disease at childhood, teenage and advanced age].
    Wu Q; Wang C; Yang S; Shi H; Ma X; Kong X; Ren S; Jiao Z; Zhai Y
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Dec; 36(12):1153-1157. PubMed ID: 31813136
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [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]  

  • 16. Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts.
    Sharp AM; Messiaen LM; Page G; Antignac C; Gubler MC; Onuchic LF; Somlo S; Germino GG; Guay-Woodford LM
    J Med Genet; 2005 Apr; 42(4):336-49. PubMed ID: 15805161
    [No Abstract]   [Full Text] [Related]  

  • 17. [PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD): Genotype-phenotype correlations from a series of 308 cases to improve prenatal counselling].
    Hamo S; Bacchetta J; Bertholet-Thomas A; Ranchin B; Cochat P; Michel-Calemard L
    Nephrol Ther; 2018 Nov; 14(6):474-477. PubMed ID: 29703621
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Intragenic duplication in the PKHD1 gene in autosomal recessive polycystic kidney disease.
    Miyazaki J; Ito M; Nishizawa H; Kato T; Minami Y; Inagaki H; Ohye T; Miyata M; Boda H; Kiriyama Y; Kuroda M; Sekiya T; Kurahashi H; Fujii T
    BMC Med Genet; 2015 Oct; 16():98. PubMed ID: 26502924
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Cost-effective PKHD1 genetic testing for autosomal recessive polycystic kidney disease.
    Krall P; Pineda C; Ruiz P; Ejarque L; Vendrell T; Camacho JA; Mendizábal S; Oliver A; Ballarín J; Torra R; Ars E
    Pediatr Nephrol; 2014 Feb; 29(2):223-34. PubMed ID: 24162162
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.