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 *

130 related articles for article (PubMed ID: 33565059)

  • 1. [Pedigree study and analysis of ATP7A gene variants in three children with Menkes disease].
    Li X; Jia T; Zhang X; Gan L; Guo Q; Li X
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Feb; 38(2):108-111. PubMed ID: 33565059
    [TBL] [Abstract][Full Text] [Related]  

  • 2. [Genetic analysis of a male infant with Menkes disease].
    Huang Y; Liu G; Wang S; Liu H; Zhou Y
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Apr; 37(4):479-482. PubMed ID: 32219842
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 13 novel putative mutations in ATP7A found in a cohort of 25 Italian families.
    de Gemmis P; Enzo MV; Lorenzetto E; Cattelan P; Segat D; Hladnik U
    Metab Brain Dis; 2017 Aug; 32(4):1173-1183. PubMed ID: 28451781
    [TBL] [Abstract][Full Text] [Related]  

  • 4. [Analysis of clinical features and genetic mutations in a Chinese family affected with Menkes disease].
    Shi X; Lin X; Ke Z; Chen S; Wu B; Mo G
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2017 Apr; 34(2):220-223. PubMed ID: 28397223
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Exon duplications in the ATP7A gene: frequency and transcriptional behaviour.
    Mogensen M; Skjørringe T; Kodama H; Silver K; Horn N; Møller LB
    Orphanet J Rare Dis; 2011 Nov; 6():73. PubMed ID: 22074552
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A silent nucleotide substitution in the ATP7A gene in a child with Menkes disease.
    Møller LB; Rea G; Yasmeen S; Skjørringe T; Thorborg SS; Morrison PJ; Donnelly DE
    Mol Genet Metab; 2013 Dec; 110(4):490-2. PubMed ID: 24100245
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Menkes disease complicated by concurrent Koolen-de Vries syndrome (17q21.31 deletion).
    Woodfin T; Stoops C; Philips JB; Lose E; Mikhail FM; Hurst A
    Mol Genet Genomic Med; 2019 Aug; 7(8):e829. PubMed ID: 31250568
    [TBL] [Abstract][Full Text] [Related]  

  • 8. ATP7A mutations in 66 Japanese patients with Menkes disease and carrier detection: A gene analysis.
    Fujisawa C; Kodama H; Hiroki T; Akasaka Y; Hamanoue M
    Pediatr Int; 2019 Apr; 61(4):345-350. PubMed ID: 30809870
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A novel frameshift mutation in exon 23 of ATP7A (MNK) results in occipital horn syndrome and not in Menkes disease.
    Dagenais SL; Adam AN; Innis JW; Glover TW
    Am J Hum Genet; 2001 Aug; 69(2):420-7. PubMed ID: 11431706
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Identification of novel ATP7A mutations and prenatal diagnosis in Chinese patients with Menkes disease.
    Cao B; Yang X; Chen Y; Huang Q; Wu Y; Gu Q; Xiao J; Yang H; Pan H; Chen J; Sun Y; Ren L; Zhao C; Deng Y; Yang Y; Chang X; Yang Z; Zhang Y; Niu Z; Wang J; Wu X; Wang J; Jiang Y
    Metab Brain Dis; 2017 Aug; 32(4):1123-1131. PubMed ID: 28397151
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Molecular Diagnostics of Copper-Transporting Protein Mutations Allows Early Onset Individual Therapy of Menkes Disease.
    Králík L; Flachsová E; Hansíková H; Saudek V; Zeman J; Martásek P
    Folia Biol (Praha); 2017; 63(5-6):165-173. PubMed ID: 29687769
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Constitutive skipping of alternatively spliced exon 10 in the ATP7A gene abolishes Golgi localization of the menkes protein and produces the occipital horn syndrome.
    Qi M; Byers PH
    Hum Mol Genet; 1998 Mar; 7(3):465-9. PubMed ID: 9467005
    [TBL] [Abstract][Full Text] [Related]  

  • 13. X-linked Menkes disease: first documented report of germ-line mosaicism.
    Poulsen L; Møller LB; Plunkett K; Belmont J; Tümer Z; Horn N
    Genet Test; 2004; 8(3):286-91. PubMed ID: 15727253
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Twenty-five novel mutations including duplications in the ATP7A gene.
    Moizard MP; Ronce N; Blesson S; Bieth E; Burglen L; Mignot C; Mortemousque I; Marmin N; Dessay B; Danesino C; Feillet F; Castelnau P; Toutain A; Moraine C; Raynaud M
    Clin Genet; 2011 Mar; 79(3):243-53. PubMed ID: 21208200
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Novel mutation of L718X in the ATP7A gene in a Japanese patient with classical Menkes disease, and four novel polymorphisms in the Japanese population.
    Ogawa A; Yamamoto S; Kanazawa M; Ogawa E; Takayanagi M; Hasegawa S; Kohno Y
    J Hum Genet; 2000; 45(5):315-7. PubMed ID: 11043517
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Multiple transcripts coding for the menkes gene: evidence for alternative splicing of Menkes mRNA.
    Reddy MC; Harris ED
    Biochem J; 1998 Aug; 334 ( Pt 1)(Pt 1):71-7. PubMed ID: 9693104
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Evidence that translation reinitiation leads to a partially functional Menkes protein containing two copper-binding sites.
    Paulsen M; Lund C; Akram Z; Winther JR; Horn N; Møller LB
    Am J Hum Genet; 2006 Aug; 79(2):214-29. PubMed ID: 16826513
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Differences in ATP7A gene expression underlie intrafamilial variability in Menkes disease/occipital horn syndrome.
    Donsante A; Tang J; Godwin SC; Holmes CS; Goldstein DS; Bassuk A; Kaler SG
    J Med Genet; 2007 Aug; 44(8):492-7. PubMed ID: 17496194
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Report of a novel ATP7A mutation causing distal motor neuropathy.
    Gualandi F; Sette E; Fortunato F; Bigoni S; De Grandis D; Scotton C; Selvatici R; Neri M; Incensi A; Liguori R; Storbeck M; Karakaya M; Simioni V; Squarzoni S; Timmerman V; Wirth B; Donadio V; Tugnoli V; Ferlini A
    Neuromuscul Disord; 2019 Oct; 29(10):776-785. PubMed ID: 31558336
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Screening of 383 unrelated patients affected with Menkes disease and finding of 57 gross deletions in ATP7A.
    Tümer Z; Birk Møller L; Horn N
    Hum Mutat; 2003 Dec; 22(6):457-64. PubMed ID: 14635105
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.