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 *

123 related articles for article (PubMed ID: 21959080)

  • 1. Promoter mutation is a common variant in GJC2-associated Pelizaeus-Merzbacher-like disease.
    Meyer E; Kurian MA; Morgan NV; McNeill A; Pasha S; Tee L; Younis R; Norman A; van der Knaap MS; Wassmer E; Trembath RC; Brueton L; Maher ER
    Mol Genet Metab; 2011 Dec; 104(4):637-43. PubMed ID: 21959080
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Disrupted SOX10 regulation of GJC2 transcription causes Pelizaeus-Merzbacher-like disease.
    Osaka H; Hamanoue H; Yamamoto R; Nezu A; Sasaki M; Saitsu H; Kurosawa K; Shimbo H; Matsumoto N; Inoue K
    Ann Neurol; 2010 Aug; 68(2):250-4. PubMed ID: 20695017
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Molecular confirmation of founder mutation c.-167A>G in Tunisian patients with PMLD disease.
    Kammoun Jellouli N; Salem IH; Ellouz E; Louhichi N; tlili A; Kammoun F; Triki C; Fakhfakh F;
    Gene; 2013 Jan; 513(2):233-8. PubMed ID: 23142375
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A novel homozygous mutation of GJC2 derived from maternal uniparental disomy in a female patient with Pelizaeus-Merzbacher-like disease.
    Shimojima K; Tanaka R; Shimada S; Sangu N; Nakayama J; Iwasaki N; Yamamoto T
    J Neurol Sci; 2013 Jul; 330(1-2):123-6. PubMed ID: 23684670
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Clinical neurophysiology in GJA12-related hypomyelination vs Pelizaeus-Merzbacher disease.
    Henneke M; Gegner S; Hahn A; Plecko-Startinig B; Weschke B; Gärtner J; Brockmann K
    Neurology; 2010 Jun; 74(22):1785-9. PubMed ID: 20513814
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A novel GJC2 mutation associated with hypomyelination and Müllerian agenesis syndrome: coincidence or a new entity?
    Yalcinkaya C; Erturk O; Tuysuz B; Yesil G; Verbeke JI; Keyser B; Stuhrmann M; Steinemann D; Sistermans EA; van der Knaap MS
    Neuropediatrics; 2012 Jun; 43(3):159-61. PubMed ID: 22610664
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Novel mutations in the GJC2 gene associated with Pelizaeus-Merzbacher-like disease.
    Owczarek-Lipska M; Mulahasanovic L; Obermaier CD; Hörtnagel K; Neubauer BA; Korenke GC; Biskup S; Neidhardt J
    Mol Biol Rep; 2019 Aug; 46(4):4507-4516. PubMed ID: 31270756
    [TBL] [Abstract][Full Text] [Related]  

  • 8. GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease.
    Gotoh L; Inoue K; Helman G; Mora S; Maski K; Soul JS; Bloom M; Evans SH; Goto YI; Caldovic L; Hobson GM; Vanderver A
    Mol Genet Metab; 2014 Mar; 111(3):393-398. PubMed ID: 24374284
    [TBL] [Abstract][Full Text] [Related]  

  • 9. GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease.
    Henneke M; Combes P; Diekmann S; Bertini E; Brockmann K; Burlina AP; Kaiser J; Ohlenbusch A; Plecko B; Rodriguez D; Boespflug-Tanguy O; Gärtner J
    Neurology; 2008 Mar; 70(10):748-54. PubMed ID: 18094336
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Myelin-associated glycoprotein gene mutation causes Pelizaeus-Merzbacher disease-like disorder.
    Lossos A; Elazar N; Lerer I; Schueler-Furman O; Fellig Y; Glick B; Zimmerman BE; Azulay H; Dotan S; Goldberg S; Gomori JM; Ponger P; Newman JP; Marreed H; Steck AJ; Schaeren-Wiemers N; Mor N; Harel M; Geiger T; Eshed-Eisenbach Y; Meiner V; Peles E
    Brain; 2015 Sep; 138(Pt 9):2521-36. PubMed ID: 26179919
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Degree of hypomyelination and magnetic resonance spectroscopy findings in patients with Pelizaeus Merzbacher phenotype.
    Plecko B; Stöckler-Ipsiroglu S; Gruber S; Mlynarik V; Moser E; Simbrunner J; Ebner F; Bernert G; Harrer G; Gal A; Prayer D
    Neuropediatrics; 2003 Jun; 34(3):127-36. PubMed ID: 12910435
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Pelizaeus-Merzbacher-Like Disease in a Family With Variable Phenotype and a Novel Splicing GJC2 Mutation.
    Al-Yahyaee SA; Al-Kindi M; Jonghe PD; Al-Asmi A; Al-Futaisi A; Vriendt ED; Deconinck T; Chand P
    J Child Neurol; 2013 Nov; 28(11):1467-1473. PubMed ID: 23143715
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Two novel gap junction protein alpha 12 gene mutations in two Chinese patients with Pelizaeus-Merzbacher-like disease.
    Wang J; Wang H; Wang Y; Chen T; Wu X; Jiang Y
    Brain Dev; 2010 Mar; 32(3):236-43. PubMed ID: 19423250
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease.
    Uhlenberg B; Schuelke M; Rüschendorf F; Ruf N; Kaindl AM; Henneke M; Thiele H; Stoltenburg-Didinger G; Aksu F; Topaloğlu H; Nürnberg P; Hübner C; Weschke B; Gärtner J
    Am J Hum Genet; 2004 Aug; 75(2):251-60. PubMed ID: 15192806
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Expanded spectrum of Pelizaeus-Merzbacher-like disease: literature revision and description of a novel GJC2 mutation in an unusually severe form.
    Biancheri R; Rosano C; Denegri L; Lamantea E; Pinto F; Lanza F; Severino M; Filocamo M
    Eur J Hum Genet; 2013 Jan; 21(1):34-9. PubMed ID: 22669416
    [TBL] [Abstract][Full Text] [Related]  

  • 16. GJA12 mutations in children with recessive hypomyelinating leukoencephalopathy.
    Bugiani M; Al Shahwan S; Lamantea E; Bizzi A; Bakhsh E; Moroni I; Balestrini MR; Uziel G; Zeviani M
    Neurology; 2006 Jul; 67(2):273-9. PubMed ID: 16707726
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Identification of GJC2 gene mutations in Chinese patients with Pelizaeus-Merzbacher-like disease.
    Ji T; Li D; Wu Y; Xiao J; Ji H; Wu X; Wang J; Jiang Y
    Minerva Pediatr (Torino); 2023 Feb; 75(1):32-38. PubMed ID: 27057822
    [TBL] [Abstract][Full Text] [Related]  

  • 18. High frequency of GJA12/GJC2 mutations in Turkish patients with Pelizaeus-Merzbacher disease.
    Bilir B; Yapici Z; Yalcinkaya C; Baris I; Carvalho CM; Bartnik M; Ozes B; Eraksoy M; Lupski JR; Battaloglu E
    Clin Genet; 2013 Jan; 83(1):66-72. PubMed ID: 22283455
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Pelizaeus-Merzbacher-Like Disease 1 Caused by a Novel Mutation in GJC2 Gene: A Case Report.
    Javadikooshesh S; Zaimkohan H; Pourghorban P; Bahramim F; Ebadi N
    Iran J Med Sci; 2021 Nov; 46(6):493-497. PubMed ID: 34840390
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A novel deletion in the GJA12 gene causes Pelizaeus-Merzbacher-like disease.
    Salviati L; Trevisson E; Baldoin MC; Toldo I; Sartori S; Calderone M; Tenconi R; Laverda A
    Neurogenetics; 2007 Jan; 8(1):57-60. PubMed ID: 17031678
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.