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Journal Abstract Search

490 related items for PubMed ID: 30858458

  • 1.
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  • 2. Genotype-phenotype of autosomal dominant polycystic kidney disease in Malta.
    Ciantar N, Zahra G, Delicata J, Sammut F, Calleja-Agius J, Farrugia E, Said E.
    Eur J Med Genet; 2024 Jun; 69():104934. PubMed ID: 38537868
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  • 3. Identification and Characterization of Novel Mutations in Chronic Kidney Disease (CKD) and Autosomal Dominant Polycystic Kidney Disease (ADPKD) in Saudi Subjects by Whole-Exome Sequencing.
    Alzahrani OR, Alatwi HE, Alharbi AA, Alessa AH, Al-Amer OM, Alanazi AFR, Shams AM, Alomari E, Naser AY, Alzahrani FA, Hosawi S, Alghamdi SM, Abdali WA, Elfaki I, Hawsawi YM.
    Medicina (Kaunas); 2022 Nov 16; 58(11):. PubMed ID: 36422197
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  • 4. Exome sequencing of Saudi Arabian patients with ADPKD.
    Al-Muhanna FA, Al-Rubaish AM, Vatte C, Mohiuddin SS, Cyrus C, Ahmad A, Shakil Akhtar M, Albezra MA, Alali RA, Almuhanna AF, Huang K, Wang L, Al-Kuwaiti F, Elsalamouni TSA, Al Hwiesh A, Huang X, Keating B, Li J, Lanktree MB, Al-Ali AK.
    Ren Fail; 2019 Nov 16; 41(1):842-849. PubMed ID: 31488014
    [Abstract] [Full Text] [Related]

  • 5. Molecular diagnosis of autosomal dominant polycystic kidney disease using next-generation sequencing.
    Tan AY, Michaeel A, Liu G, Elemento O, Blumenfeld J, Donahue S, Parker T, Levine D, Rennert H.
    J Mol Diagn; 2014 Mar 16; 16(2):216-28. PubMed ID: 24374109
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  • 6. Genomic diagnostics in polycystic kidney disease: an assessment of real-world use of whole-genome sequencing.
    Mallawaarachchi AC, Lundie B, Hort Y, Schonrock N, Senum SR, Gayevskiy V, Minoche AE, Hollway G, Ohnesorg T, Hinchcliffe M, Patel C, Tchan M, Mallett A, Dinger ME, Rangan G, Cowley MJ, Harris PC, Burnett L, Shine J, Furlong TJ.
    Eur J Hum Genet; 2021 May 16; 29(5):760-770. PubMed ID: 33437033
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  • 7. 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 01; 516(1):93-100. PubMed ID: 23266634
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  • 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 10; 433():12-9. PubMed ID: 24582653
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  • 12. Somatic Mutations in Renal Cyst Epithelium in Autosomal Dominant Polycystic Kidney Disease.
    Tan AY, Zhang T, Michaeel A, Blumenfeld J, Liu G, Zhang W, Zhang Z, Zhu Y, Rennert L, Martin C, Xiang J, Salvatore SP, Robinson BD, Kapur S, Donahue S, Bobb WO, Rennert H.
    J Am Soc Nephrol; 2018 Aug 10; 29(8):2139-2156. PubMed ID: 30042192
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  • 14. Technical Evaluation: Identification of Pathogenic Mutations in PKD1 and PKD2 in Patients with Autosomal Dominant Polycystic Kidney Disease by Next-Generation Sequencing and Use of a Comprehensive New Classification System.
    Kinoshita M, Higashihara E, Kawano H, Higashiyama R, Koga D, Fukui T, Gondo N, Oka T, Kawahara K, Rigo K, Hague T, Katsuragi K, Sudo K, Takeshi M, Horie S, Nutahara K.
    PLoS One; 2016 Aug 10; 11(11):e0166288. PubMed ID: 27835667
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  • 15. Identification of novel mutations and risk assessment of Han Chinese patients with autosomal dominant polycystic kidney disease.
    Zhang M, Liu S, Xia X, Cui Y, Li X.
    Nephrology (Carlton); 2019 May 10; 24(5):504-510. PubMed ID: 29633482
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