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 *

149 related articles for article (PubMed ID: 15103717)

  • 21. Minimal somatic instability of CTG repeat in congenital myotonic dystrophy.
    Tachi N; Ohya K; Chiba S; Sato T; Kikuchi K
    Pediatr Neurol; 1995 Jan; 12(1):81-3. PubMed ID: 7748368
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Molecular genetic and clinical characterization of myotonic dystrophy type 1 patients carrying variant repeats within DMPK expansions.
    Pešović J; Perić S; Brkušanin M; Brajušković G; Rakočević-Stojanović V; Savić-Pavićević D
    Neurogenetics; 2017 Dec; 18(4):207-218. PubMed ID: 28942489
    [TBL] [Abstract][Full Text] [Related]  

  • 23. 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]  

  • 24. Prenatal diagnosis of congenital myotonic dystrophy and counseling of the pregnant mother: case report and literature review.
    Geifman-Holtzman O; Fay K
    Am J Med Genet; 1998 Jul; 78(3):250-3. PubMed ID: 9677060
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Instability of the expanded (CTG)n repeats in the myotonin protein kinase gene in cultured lymphoblastoid cell lines from patients with myotonic dystrophy.
    Ashizawa T; Monckton DG; Vaishnav S; Patel BJ; Voskova A; Caskey CT
    Genomics; 1996 Aug; 36(1):47-53. PubMed ID: 8812415
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Paternal transmission of the congenital form of myotonic dystrophy type 1: a new case and review of the literature.
    Zeesman S; Carson N; Whelan DT
    Am J Med Genet; 2002 Jan; 107(3):222-6. PubMed ID: 11807903
    [TBL] [Abstract][Full Text] [Related]  

  • 27. [CTG-repeat analysis of myotonin protein kinase gene in Bashkortostan patients with myotonic dystrophy].
    Khidiiatova IM; Fatkhlislamova RI; magzhanov RV; Popova SN; Slominskiĭ PA; Limborskaia SA; Khusnutdinova EK
    Zh Nevrol Psikhiatr Im S S Korsakova; 2002; 102(3):54-8. PubMed ID: 11957350
    [TBL] [Abstract][Full Text] [Related]  

  • 28. The myotonic dystrophy gene.
    Pizzuti A; Friedman DL; Caskey CT
    Arch Neurol; 1993 Nov; 50(11):1173-9. PubMed ID: 8215976
    [TBL] [Abstract][Full Text] [Related]  

  • 29. CTG repeats at the myotonic protein kinase gene in a healthy Chilean population sample.
    Amenabar F; Jorquera H; Acuña M; Cifuentes L
    Acta Neurol Scand; 2009 May; 119(5):321-4. PubMed ID: 18798829
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Homozygous myotonic dystrophy with craniosynostosis.
    Cerghet M; Tapos D; Serajee FJ; Mahbubul Huq AH
    J Child Neurol; 2008 Aug; 23(8):930-3. PubMed ID: 18474935
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Molecular and clinical study of two myotonic dystrophy homozygotes.
    Akbas F; Serdaroglu P; Deymeer F; Aysal F; Erginel-Unaltuna N
    J Med Genet; 2001 Nov; 38(11):E40. PubMed ID: 11694554
    [No Abstract]   [Full Text] [Related]  

  • 32. [Recommendations of good practices for the genetic diagnosis of myotonic dystrophy. Grupo AEGH/CIBERER].
    Garcia Planells J; Molano J; Borrego S;
    Med Clin (Barc); 2011 Mar; 136(7):303-8. PubMed ID: 20863536
    [No Abstract]   [Full Text] [Related]  

  • 33. [DNA diagnosis in myotonic dystrophy].
    Tachi N
    Hokkaido Igaku Zasshi; 1996 Jan; 71(1):3-8. PubMed ID: 8727368
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Development of a genomic DNA reference material panel for myotonic dystrophy type 1 (DM1) genetic testing.
    Kalman L; Tarleton J; Hitch M; Hegde M; Hjelm N; Berry-Kravis E; Zhou L; Hilbert JE; Luebbe EA; Moxley RT; Toji L
    J Mol Diagn; 2013 Jul; 15(4):518-25. PubMed ID: 23680132
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Myotonic dystrophy: evidence for a possible dominant-negative RNA mutation.
    Wang J; Pegoraro E; Menegazzo E; Gennarelli M; Hoop RC; Angelini C; Hoffman EP
    Hum Mol Genet; 1995 Apr; 4(4):599-606. PubMed ID: 7543316
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Correlations between individual clinical manifestations and CTG repeat amplification in myotonic dystrophy.
    Marchini C; Lonigro R; Verriello L; Pellizzari L; Bergonzi P; Damante G
    Clin Genet; 2000 Jan; 57(1):74-82. PubMed ID: 10733240
    [TBL] [Abstract][Full Text] [Related]  

  • 37. [Application of triplet-primer PCR technology for the genetic testing and prenatal diagnosis of patients with Myotonic dystrophy type 1].
    Chen C; Zhao X; Meng J; Kong X
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 Oct; 41(10):1182-1186. PubMed ID: 39344611
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Normal variation at the myotonic dystrophy locus in global human populations.
    Zerylnick C; Torroni A; Sherman SL; Warren ST
    Am J Hum Genet; 1995 Jan; 56(1):123-30. PubMed ID: 7825567
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Technical standards and guidelines for myotonic dystrophy type 1 testing.
    Prior TW;
    Genet Med; 2009 Jul; 11(7):552-5. PubMed ID: 19546810
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Myotonic dystrophy protein kinase (DMPK) gene expression in lymphocytes of patients with myotonic dystrophy.
    Depardon F; Cisneros B; Alonso-Vilatela E; Montañez C
    Arch Med Res; 2001; 32(2):123-8. PubMed ID: 11343809
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 8.