BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

173 related articles for article (PubMed ID: 24430576)

  • 21. [A pedigree with myotonic dystrophy: non-CTG, non-CCTG repeat expansion].
    Zhao XP; Xie HJ; Zheng HM; Yu ZL; Cui Y; Ding SJ; Ren DM; Tang GM
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2004 Oct; 21(5):459-62. PubMed ID: 15476170
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Premutation allele pool in myotonic dystrophy type 2.
    Bachinski LL; Czernuszewicz T; Ramagli LS; Suominen T; Shriver MD; Udd B; Siciliano MJ; Krahe R
    Neurology; 2009 Feb; 72(6):490-7. PubMed ID: 19020295
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Severity, type, and distribution of myotonic discharges are different in type 1 and type 2 myotonic dystrophy.
    Logigian EL; Ciafaloni E; Quinn LC; Dilek N; Pandya S; Moxley RT; Thornton CA
    Muscle Nerve; 2007 Apr; 35(4):479-85. PubMed ID: 17230537
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Myotonic dystrophy type 2 and modifier genes: an update on clinical and pathomolecular aspects.
    Meola G; Cardani R
    Neurol Sci; 2017 Apr; 38(4):535-546. PubMed ID: 28078562
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Molecular Diagnosis of Myotonic Dystrophy.
    Chakraborty S; Vatta M; Bachinski LL; Krahe R; Dlouhy S; Bai S
    Curr Protoc Hum Genet; 2016 Oct; 91():9.29.1-9.29.19. PubMed ID: 27727437
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Phenotypic variability and molecular genetics in proximal myotonic myopathy.
    Papadimas GK; Kekou K; Papadopoulos C; Kararizou E; Kanavakis E; Manta P
    Muscle Nerve; 2015 May; 51(5):686-91. PubMed ID: 25186227
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Analysis of CTG repeat length variation in the
    Ambrose KK; Ishak T; Lian LH; Goh KJ; Wong KT; Ahmad-Annuar A; Thong MK
    BMJ Open; 2017 Mar; 7(3):e010711. PubMed ID: 28363916
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Evidence for a relatively high proportion of DM2 mutations in a large group of Polish patients.
    Sulek A; Lusakowska A; Krysa W; Rajkiewicz M; Kaminska A; Nojszewska M; Kostera-Pruszczyk A; Zdzienicka E; Kubalska J; Rakowicz M; Szirkowiec W; Kwiecinski H; Zaremba J
    Neurol Neurochir Pol; 2018; 52(6):736-742. PubMed ID: 29588063
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Optimization PCR for Detection CTG/CCTG-Repeat Expansions in the Diagnosis of Myotonic Dystrophies.
    Meng YX; Shen HR; Zhao Z; Bing Q; Li N; Hu J
    Ann Clin Lab Sci; 2015; 45(5):502-7. PubMed ID: 26586700
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Expanded [CCTG]n repetitions are not associated with abnormal methylation at the CNBP locus in myotonic dystrophy type 2 (DM2) patients.
    Santoro M; Fontana L; Maiorca F; Centofanti F; Massa R; Silvestri G; Novelli G; Botta A
    Biochim Biophys Acta Mol Basis Dis; 2018 Mar; 1864(3):917-924. PubMed ID: 29291944
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Analysis of MTMR1 expression and correlation with muscle pathological features in juvenile/adult onset myotonic dystrophy type 1 (DM1) and in myotonic dystrophy type 2 (DM2).
    Santoro M; Modoni A; Masciullo M; Gidaro T; Broccolini A; Ricci E; Tonali PA; Silvestri G
    Exp Mol Pathol; 2010 Oct; 89(2):158-68. PubMed ID: 20685272
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Neuromyelitis Optica in a Patient from Family with both Myotonic Dystrophy Type 1 and 2.
    Rakocevic-Stojanovic V; Peric S; Dujmovic I; Drulovic J; Pesovic J; Savic-Pavicevic D
    J Neuromuscul Dis; 2017; 4(1):89-92. PubMed ID: 28106565
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2.
    Kamsteeg EJ; Kress W; Catalli C; Hertz JM; Witsch-Baumgartner M; Buckley MF; van Engelen BG; Schwartz M; Scheffer H
    Eur J Hum Genet; 2012 Dec; 20(12):1203-8. PubMed ID: 22643181
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Molecular and clinical characteristics of myotonic dystrophy type 1 in koreans.
    Kim SY; Kim JY; Kim GP; Sung JJ; Lim KS; Lee KW; Chae JH; Hong YH; Seong MW; Park SS
    Korean J Lab Med; 2008 Dec; 28(6):483-92. PubMed ID: 19127114
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Myotonic dystrophy type 2: human founder haplotype and evolutionary conservation of the repeat tract.
    Liquori CL; Ikeda Y; Weatherspoon M; Ricker K; Schoser BG; Dalton JC; Day JW; Ranum LP
    Am J Hum Genet; 2003 Oct; 73(4):849-62. PubMed ID: 14505273
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Biomolecular identification of (CCTG)n mutation in myotonic dystrophy type 2 (DM2) by FISH on muscle biopsy.
    Cardani R; Mancinelli E; Sansone V; Rotondo G; Meola G
    Eur J Histochem; 2004; 48(4):437-42. PubMed ID: 15718211
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Proximal myotonic dystrophy--a family with autosomal dominant muscular dystrophy, cataracts, hearing loss and hypogonadism: heterogeneity of proximal myotonic syndromes?
    Udd B; Krahe R; Wallgren-Pettersson C; Falck B; Kalimo H
    Neuromuscul Disord; 1997 Jun; 7(4):217-28. PubMed ID: 9196902
    [TBL] [Abstract][Full Text] [Related]  

  • 38. [Clinical and genetic analysis of a pedigree of myotonic dystrophy disease].
    Ding Y; Ding MP; Yin HM; Guo Y; Zhang J; Zhao GH; Wang J; Liu ZR
    Zhejiang Da Xue Xue Bao Yi Xue Ban; 2008 Sep; 37(5):494-8. PubMed ID: 18925718
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Molecular mechanisms of muscle atrophy in myotonic dystrophies.
    Timchenko L
    Int J Biochem Cell Biol; 2013 Oct; 45(10):2280-7. PubMed ID: 23796888
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Myotonic dystrophy and limb girdle muscular dystrophy in one family.
    Schröder R; Beyenburg S; Weber J; Olek K; Zierz S
    Clin Investig; 1994 May; 72(5):409-13. PubMed ID: 8086779
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 9.