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Journal Abstract Search

314 related items for PubMed ID: 31708252

  • 1. The spectrum of pathogenic variants of the ATP7B gene in Wilson disease in the Russian Federation.
    Balashova MS, Tuluzanovskaya IG, Glotov OS, Glotov AS, Barbitoff YA, Fedyakov MA, Alaverdian DA, Ivashchenko TE, Romanova OV, Sarana AM, Scherbak SG, Baranov VS, Filimonov MI, Skalny AV, Zhuchenko NA, Ignatova TM, Asanov AY.
    J Trace Elem Med Biol; 2020 May; 59():126420. PubMed ID: 31708252
    [Abstract] [Full Text] [Related]

  • 2. Whole-exome sequencing identifies novel pathogenic variants across the ATP7B gene and some modifiers of Wilson's disease phenotype.
    Kluska A, Kulecka M, Litwin T, Dziezyc K, Balabas A, Piatkowska M, Paziewska A, Dabrowska M, Mikula M, Kaminska D, Wiernicka A, Socha P, Czlonkowska A, Ostrowski J.
    Liver Int; 2019 Jan; 39(1):177-186. PubMed ID: 30230192
    [Abstract] [Full Text] [Related]

  • 3. Analysis of mutations spectrum in the ATP7B gene in patients with Wilson disease using massively parallel sequencing.
    Sivtsev AA, Zhalsanova IZ, Postrigan AE, Fonova EA, Vasilyeva OY, Zarubin AA, Minaicheva LI, Agafonova AA, Petrova VV, Ravzhaeva EG, Salyukova OA, Skryabin NA.
    Klin Lab Diagn; 2022 Apr 17; 67(4):250-256. PubMed ID: 35575400
    [Abstract] [Full Text] [Related]

  • 4. Contribution of intragenic deletions to mutation spectrum in Chinese patients with Wilson's disease and possible mechanism underlying ATP7B gross deletions.
    Chen YC, Yu H, Wang RM, Xie JJ, Ni W, Zhang Y, Dong Y, Wu ZY.
    Parkinsonism Relat Disord; 2019 May 17; 62():128-133. PubMed ID: 30655162
    [Abstract] [Full Text] [Related]

  • 5. [Genotype-phenotype relationship and genetics study of 115 cases with Wilson's disease].
    Xia JK, Ning HF, Luo X, Zeng Y, Chen YB, Kong XD.
    Zhonghua Gan Zang Bing Za Zhi; 2024 Jun 20; 32(6):558-562. PubMed ID: 38964899
    [Abstract] [Full Text] [Related]

  • 6. WilsonGen a comprehensive clinically annotated genomic variant resource for Wilson's Disease.
    Kumar M, Gaharwar U, Paul S, Poojary M, Pandhare K, Scaria V, Bk B.
    Sci Rep; 2020 Jun 03; 10(1):9037. PubMed ID: 32493955
    [Abstract] [Full Text] [Related]

  • 7. [Phenotype and genotype analysis of 55 children patients with Wilson's disease].
    Zhou XY, Yin HX, Wang CL, Liu ZF, Zheng BX, Jin Y.
    Zhonghua Gan Zang Bing Za Zhi; 2020 Jul 20; 28(7):603-607. PubMed ID: 32791797
    [Abstract] [Full Text] [Related]

  • 8. Genetic studies discover novel coding and non-coding mutations in patients with Wilson's disease in China.
    Huang C, Fang M, Xiao X, Gao Z, Wang Y, Gao C.
    J Clin Lab Anal; 2022 Jun 20; 36(6):e24459. PubMed ID: 35470480
    [Abstract] [Full Text] [Related]

  • 9. Wilson disease: novel mutations in the ATP7B gene and clinical correlation in Brazilian patients.
    Deguti MM, Genschel J, Cancado EL, Barbosa ER, Bochow B, Mucenic M, Porta G, Lochs H, Carrilho FJ, Schmidt HH.
    Hum Mutat; 2004 Apr 20; 23(4):398. PubMed ID: 15024742
    [Abstract] [Full Text] [Related]

  • 10. A novel gross deletion and breakpoint junction sequence analysis of ATP7B in a Chinese family with Wilson disease using next‑generation sequencing and Sanger sequencing.
    Liu WL, Li F, Liu L, Chen W, He ZX, Gu H, Ai R.
    Mol Med Rep; 2020 Jan 20; 21(1):517-523. PubMed ID: 31746411
    [Abstract] [Full Text] [Related]

  • 11. A genetic study of Wilson's disease in the United Kingdom.
    Coffey AJ, Durkie M, Hague S, McLay K, Emmerson J, Lo C, Klaffke S, Joyce CJ, Dhawan A, Hadzic N, Mieli-Vergani G, Kirk R, Elizabeth Allen K, Nicholl D, Wong S, Griffiths W, Smithson S, Giffin N, Taha A, Connolly S, Gillett GT, Tanner S, Bonham J, Sharrack B, Palotie A, Rattray M, Dalton A, Bandmann O.
    Brain; 2013 May 20; 136(Pt 5):1476-87. PubMed ID: 23518715
    [Abstract] [Full Text] [Related]

  • 12. Novel mutations found in the ATP7B gene in Chinese patients with Wilson's disease.
    Qian Z, Cui X, Huang Y, Liu Y, Li N, Zheng S, Jiang J, Cui S.
    Mol Genet Genomic Med; 2019 May 20; 7(5):e649. PubMed ID: 30884209
    [Abstract] [Full Text] [Related]

  • 13. [Phenotypes and ATP7B gene variants in 316 children with Wilson disease].
    Lu ZK, Cheng J, Li SM, Lin YT, Zhang W, Li XZ, Sheng HY, Mao XJ, Mei HF, Zheng RD, Liang CL, Jiang MY, Huang YL, Liu L, Zeng CH.
    Zhonghua Er Ke Za Zhi; 2022 Apr 02; 60(4):317-322. PubMed ID: 35385937
    [Abstract] [Full Text] [Related]

  • 14. Mutation Analysis of the ATP7B Gene in Seven Chinese Families with Wilson's Disease.
    Xiao H, Deng S, Deng X, Gu S, Yang Z, Yin H, Deng H.
    Digestion; 2019 Apr 02; 99(4):319-326. PubMed ID: 30384382
    [Abstract] [Full Text] [Related]

  • 15. New mutations and polymorphisms of the ATP7B gene in sporadic Wilson disease.
    Lu CX, Qing Lin, Huang WQ, Tzeng CM.
    Eur J Med Genet; 2014 Sep 02; 57(9):498-502. PubMed ID: 24878384
    [Abstract] [Full Text] [Related]

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  • 17. Novel mutations of the ATP7B gene in Han Chinese families with pre-symptomatic Wilson's disease.
    Yuan ZF, Wu W, Yu YL, Shen J, Mao SS, Gao F, Xia ZZ.
    World J Pediatr; 2015 Aug 02; 11(3):255-60. PubMed ID: 26253413
    [Abstract] [Full Text] [Related]

  • 18. Spectrum and Classification of ATP7B Variants in a Large Cohort of Chinese Patients with Wilson's Disease Guides Genetic Diagnosis.
    Dong Y, Ni W, Chen WJ, Wan B, Zhao GX, Shi ZQ, Zhang Y, Wang N, Yu L, Xu JF, Wu ZY.
    Theranostics; 2016 Aug 02; 6(5):638-49. PubMed ID: 27022412
    [Abstract] [Full Text] [Related]

  • 19. A novel deep intronic variant in ATP7B in five unrelated families affected by Wilson disease.
    Woimant F, Poujois A, Bloch A, Jordi T, Laplanche JL, Morel H, Collet C.
    Mol Genet Genomic Med; 2020 Oct 02; 8(10):e1428. PubMed ID: 32770663
    [Abstract] [Full Text] [Related]

  • 20. High frequency of the c.3207C>A (p.H1069Q) mutation in ATP7B gene of Lithuanian patients with hepatic presentation of Wilson's disease.
    Kucinskas L, Jeroch J, Vitkauskiene A, Sakalauskas R, Petrenkiene V, Kucinskas V, Naginiene R, Schmidt H, Kupcinskas L.
    World J Gastroenterol; 2008 Oct 14; 14(38):5876-9. PubMed ID: 18855987
    [Abstract] [Full Text] [Related]

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