BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

205 related articles for article (PubMed ID: 23389334)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 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. 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]  

  • 7. 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]  

  • 8. 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]  

  • 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. 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]  

  • 11. 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]  

  • 12. 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]  

  • 13. 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]  

  • 14. Pkhd1
    Yang C; Harafuji N; Caldovic L; Yu W; Boddu R; Bhattacharya S; Barseghyan H; Gordish-Dressman H; Foreman O; Bebok Z; Eicher EM; Guay-Woodford LM
    J Mol Med (Berl); 2023 Sep; 101(9):1141-1151. PubMed ID: 37584738
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. Multi-exon deletions of the PKHD1 gene cause autosomal recessive polycystic kidney disease (ARPKD).
    Bergmann C; Küpper F; Schmitt CP; Vester U; Neuhaus TJ; Senderek J; Zerres K
    J Med Genet; 2005 Oct; 42(10):e63. PubMed ID: 16199545
    [TBL] [Abstract][Full Text] [Related]  

  • 17. PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD).
    Bergmann C; Senderek J; Küpper F; Schneider F; Dornia C; Windelen E; Eggermann T; Rudnik-Schöneborn S; Kirfel J; Furu L; Onuchic LF; Rossetti S; Harris PC; Somlo S; Guay-Woodford L; Germino GG; Moser M; Büttner R; Zerres K
    Hum Mutat; 2004 May; 23(5):453-63. PubMed ID: 15108277
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Identification of PKHD1 multiexon deletions using multiplex ligation-dependent probe amplification and quantitative polymerase chain reaction.
    Zvereff V; Yao S; Ramsey J; Mikhail FM; Vijzelaar R; Messiaen L
    Genet Test Mol Biomarkers; 2010 Aug; 14(4):505-10. PubMed ID: 20575693
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Algorithm for efficient PKHD1 mutation screening in autosomal recessive polycystic kidney disease (ARPKD).
    Bergmann C; Küpper F; Dornia C; Schneider F; Senderek J; Zerres K
    Hum Mutat; 2005 Mar; 25(3):225-31. PubMed ID: 15706593
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.