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.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

309 related items for PubMed ID: 31746411

  • 1.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 2. 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; 62():128-133. PubMed ID: 30655162
    [Abstract] [Full Text] [Related]

  • 3. 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; 8(10):e1428. PubMed ID: 32770663
    [Abstract] [Full Text] [Related]

  • 4. [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]

  • 5. New novel mutation of the ATP7B gene in a family with Wilson disease.
    Lee JY, Kim YH, Kim TW, Oh SY, Kim DS, Shin BS.
    J Neurol Sci; 2012 Feb 15; 313(1-2):129-31. PubMed ID: 22075048
    [Abstract] [Full Text] [Related]

  • 6. Spectrum of ATP7B mutations and genotype-phenotype correlation in large-scale Chinese patients with Wilson Disease.
    Cheng N, Wang H, Wu W, Yang R, Liu L, Han Y, Guo L, Hu J, Xu L, Zhao J, Han Y, Liu Q, Li K, Wang X, Chen W.
    Clin Genet; 2017 Jul 15; 92(1):69-79. PubMed ID: 27982432
    [Abstract] [Full Text] [Related]

  • 7. Clinical and genetic analysis of pediatric patients with Wilson disease.
    Şimşek Papur Ö, Aşık Akman S, Terzioğlu O.
    Turk J Gastroenterol; 2015 Sep 15; 26(5):397-403. PubMed ID: 26215059
    [Abstract] [Full Text] [Related]

  • 8. Identification and characterization of a novel 43-bp deletion mutation of the ATP7B gene in a Chinese patient with Wilson's disease: a case report.
    Liu G, Ma D, Cheng J, Zhang J, Luo C, Sun Y, Hu P, Wang Y, Jiang T, Xu Z.
    BMC Med Genet; 2018 Apr 12; 19(1):61. PubMed ID: 29649982
    [Abstract] [Full Text] [Related]

  • 9. Molecular analysis of 53 Chinese families with Wilson's disease: Six novel mutations identified.
    Xiao Z, Yang Y, Huang H, Tang H, Liu L, Tang J, Shi X.
    Mol Genet Genomic Med; 2021 Sep 12; 9(9):e1735. PubMed ID: 34324271
    [Abstract] [Full Text] [Related]

  • 10. Intragenic Deletions in ATP7B as an Unusual Molecular Genetics Mechanism of Wilson's Disease Pathogenesis.
    Todorov T, Balakrishnan P, Savov A, Socha P, Schmidt HH.
    PLoS One; 2016 Sep 12; 11(12):e0168372. PubMed ID: 27992490
    [Abstract] [Full Text] [Related]

  • 11. Complex ATP7B mutation patterns in Wilson disease and evaluation of a yeast model for functional analysis of variants.
    Li X, Zhang W, Zhou D, Lv T, Xu A, Wang H, Zhao X, Zhang B, Li Y, Jia S, Wang Y, Wang X, Wu Z, Duan W, Wang Q, Nan Y, Shang J, Jiang W, Chen Y, Zheng S, Liu M, Sun L, You H, Jia J, Ou X, Huang J.
    Hum Mutat; 2019 May 12; 40(5):552-565. PubMed ID: 30702195
    [Abstract] [Full Text] [Related]

  • 12. Genetic analysis of 55 northern Vietnamese patients with Wilson disease: seven novel mutations in ATP7B.
    Tuan Pham LA, Nguyen TT, Nga Le HB, Tran DQ, Ho CT, Tran TH, Ta VT, Bui TH, Tran VK.
    J Genet; 2017 Dec 12; 96(6):933-939. PubMed ID: 29321352
    [Abstract] [Full Text] [Related]

  • 13. Gene mutations in Wilson disease in Egyptian children: report on two novel mutations.
    El-Mougy FA, Sharaf SA, Elsharkawy MM, Mandour IA, El-Essawy RA, Eldin AM, Helmy HM, Soliman DH, Selim LH, Sharafeldin HM, Mogahed EA, El-Karaksy HM.
    Arab J Gastroenterol; 2014 Dec 12; 15(3-4):114-8. PubMed ID: 25465132
    [Abstract] [Full Text] [Related]

  • 14. Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses.
    Shah AB, Chernov I, Zhang HT, Ross BM, Das K, Lutsenko S, Parano E, Pavone L, Evgrafov O, Ivanova-Smolenskaya IA, Annerén G, Westermark K, Urrutia FH, Penchaszadeh GK, Sternlieb I, Scheinberg IH, Gilliam TC, Petrukhin K.
    Am J Hum Genet; 1997 Aug 12; 61(2):317-28. PubMed ID: 9311736
    [Abstract] [Full Text] [Related]

  • 15.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 16.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 17.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 18. [Identification of ATP7B gene variant by combined use of Sanger sequencing, array CGH and quantitative PCR].
    Xu J, Wang J, Wang K, Xu Y, Geng J.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Dec 10; 36(12):1183-1186. PubMed ID: 31813143
    [Abstract] [Full Text] [Related]

  • 19. 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 10; 59():126420. PubMed ID: 31708252
    [Abstract] [Full Text] [Related]

  • 20.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 16.