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.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

108 related articles for article (PubMed ID: 31030424)

  • 1. [Genetic diagnosis and prenatal diagnosis of autosomal dominant polycystic kidney disease].
    Qiu B; Yang J
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 May; 36(5):419-423. PubMed ID: 31030424
    [TBL] [Abstract][Full Text] [Related]  

  • 2. [Analysis of PDK1 gene variants and prenatal diagnosis for eight pedigrees affected with autosomal dominant polycystic kidney disease].
    Li H; Cao P; Zhu X; Zhu Y; Wu X; Li J
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Sep; 39(9):932-937. PubMed ID: 36082560
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Mutational analysis in patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD): Identification of five mutations in the PKD1 gene.
    Abdelwahed M; Hilbert P; Ahmed A; Mahfoudh H; Bouomrani S; Dey M; Hachicha J; Kamoun H; Keskes-Ammar L; Belguith N
    Gene; 2018 Sep; 671():28-35. PubMed ID: 29860066
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Mutational Screening of PKD1 and PKD2 Genes in Iranian Population Diagnosed with Autosomal Dominant Polycystic Kidney Disease.
    Ranjzad F; Tara A; Basiri A; Aghdami N; Moghadasali R
    Clin Lab; 2017 Jul; 63(7):1261-1267. PubMed ID: 28792715
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Bilineal inheritance of pathogenic PKD1 and PKD2 variants in a Czech family with autosomal dominant polycystic kidney disease - a case report.
    Elisakova V; Merta M; Reiterova J; Baxova A; Kotlas J; Hirschfeldova K; Obeidova L; Tesar V; Stekrova J
    BMC Nephrol; 2018 Jul; 19(1):163. PubMed ID: 29973168
    [TBL] [Abstract][Full Text] [Related]  

  • 6. [Study of two pedigrees affected with adult polycystic kidney disease and male infertility resulting from novel mutations of PKD1].
    Feng Z; Wei L; Tan L
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2018 Jun; 35(3):376-379. PubMed ID: 29896735
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Identification of Three Novel Frameshift Mutations in the PKD1 Gene in Iranian Families with Autosomal Dominant Polycystic Kidney Disease Using Efficient Targeted Next-Generation Sequencing.
    Ranjzad F; Aghdami N; Tara A; Mohseni M; Moghadasali R; Basiri A
    Kidney Blood Press Res; 2018; 43(2):471-478. PubMed ID: 29590654
    [TBL] [Abstract][Full Text] [Related]  

  • 8. PKD1 and PKD2 mutations in Slovenian families with autosomal dominant polycystic kidney disease.
    Vouk K; Strmecki L; Stekrova J; Reiterova J; Bidovec M; Hudler P; Kenig A; Jereb S; Zupanic-Pajnic I; Balazic J; Haarpaintner G; Leskovar B; Adamlje A; Skoflic A; Dovc R; Hojs R; Komel R
    BMC Med Genet; 2006 Jan; 7():6. PubMed ID: 16430766
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Identification of novel mutations of PKD1 gene in Chinese patients with autosomal dominant polycystic kidney disease by targeted next-generation sequencing.
    Yang T; Meng Y; Wei X; Shen J; Zhang M; Qi C; Wang C; Liu J; Ma M; Huang S
    Clin Chim Acta; 2014 Jun; 433():12-9. PubMed ID: 24582653
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Novel PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease (ADPKD).
    Hoefele J; Mayer K; Scholz M; Klein HG
    Nephrol Dial Transplant; 2011 Jul; 26(7):2181-8. PubMed ID: 21115670
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Autosomal dominant polycystic kidney disease: comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients.
    Audrézet MP; Cornec-Le Gall E; Chen JM; Redon S; Quéré I; Creff J; Bénech C; Maestri S; Le Meur Y; Férec C
    Hum Mutat; 2012 Aug; 33(8):1239-50. PubMed ID: 22508176
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Novel PKD1 and PKD2 mutations in Taiwanese patients with autosomal dominant polycystic kidney disease.
    Chang MY; Chen HM; Jenq CC; Lee SY; Chen YM; Tian YC; Chen YC; Hung CC; Fang JT; Yang CW; Wu-Chou YH
    J Hum Genet; 2013 Nov; 58(11):720-7. PubMed ID: 23985799
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Mutation analysis of autosomal dominant polycystic kidney disease genes in Han Chinese.
    Zhang S; Mei C; Zhang D; Dai B; Tang B; Sun T; Zhao H; Zhou Y; Li L; Wu Y; Wang W; Shen X; Song J
    Nephron Exp Nephrol; 2005; 100(2):e63-76. PubMed ID: 15775720
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease.
    Tan YC; Blumenfeld JD; Anghel R; Donahue S; Belenkaya R; Balina M; Parker T; Levine D; Leonard DG; Rennert H
    Hum Mutat; 2009 Feb; 30(2):264-73. PubMed ID: 18837007
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [Mutational analysis of the PKD1 and PKD2 (type 1 and 2 dominant autosomal polycystic kidney) genes].
    Torra R; Badenas C; Pérez-Oller L; San Millán JL; Tellería D; Estivill X; Darnell A
    Nefrologia; 2000; 20(1):39-46. PubMed ID: 10822721
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Mutation analysis in PKD1 of Japanese autosomal dominant polycystic kidney disease patients.
    Inoue S; Inoue K; Utsunomiya M; Nozaki J; Yamada Y; Iwasa T; Mori E; Yoshinaga T; Koizumi A
    Hum Mutat; 2002 Jun; 19(6):622-8. PubMed ID: 12007219
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Use of targeted sequence capture and high-throughput sequencing identifies a novel PKD1 mutation involved in adult polycystic kidney disease.
    Sha YK; Sha YW; Mei LB; Huang XJ; Wang X; Lin SB; Li L; Li P
    Gene; 2017 Nov; 634():1-4. PubMed ID: 28870863
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [Identification of a novel splicing mutation of PKD1 gene in a pedigree affected with autosomal dominant polycystic kidney disease].
    Xu P; Zou Y; Li J; Huang S; Gao M; Kang R; Gao Y
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2016 Dec; 33(6):778-781. PubMed ID: 27984604
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Genetic diagnosis of autosomal dominant polycystic kidney disease by targeted capture and next-generation sequencing: utility and limitations.
    Qi XP; Du ZF; Ma JM; Chen XL; Zhang Q; Fei J; Wei XM; Chen D; Ke HP; Liu XZ; Li F; Chen ZG; Su Z; Jin HY; Liu WT; Zhao Y; Jiang HL; Lan ZZ; Li PF; Fang MY; Dong W; Zhang XN
    Gene; 2013 Mar; 516(1):93-100. PubMed ID: 23266634
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 28 novel mutations identified from 33 Chinese patients with cilia-related kidney disorders.
    Liang N; Jiang X; Zeng L; Li Z; Liang D; Wu L
    Clin Chim Acta; 2020 Feb; 501():207-215. PubMed ID: 31730820
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.