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 *

136 related articles for article (PubMed ID: 38916235)

  • 21. Clinical and genetic characteristics of childhood-onset myotonic dystrophy.
    Stokes M; Varughese N; Iannaccone S; Castro D
    Muscle Nerve; 2019 Dec; 60(6):732-738. PubMed ID: 31520483
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Myotonic dystrophy protein kinase (DMPK) and its role in the pathogenesis of myotonic dystrophy 1.
    Kaliman P; Llagostera E
    Cell Signal; 2008 Nov; 20(11):1935-41. PubMed ID: 18583094
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Myotonic dystrophy: RNA pathogenesis comes into focus.
    Ranum LP; Day JW
    Am J Hum Genet; 2004 May; 74(5):793-804. PubMed ID: 15065017
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Association of spinal and bulbar muscular atrophy with myotonic dystrophy type 1.
    Jinnai K; Nishimoto K; Itoh K; Hashimoto K; Takahashi K
    Muscle Nerve; 2004 May; 29(5):729-33. PubMed ID: 15116379
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Fuchs' Endothelial Corneal Dystrophy in Patients With Myotonic Dystrophy, Type 1.
    Winkler NS; Milone M; Martinez-Thompson JM; Raja H; Aleff RA; Patel SV; Fautsch MP; Wieben ED; Baratz KH
    Invest Ophthalmol Vis Sci; 2018 Jun; 59(7):3053-3057. PubMed ID: 30025114
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Multiple familial pilomatricomas: an unusual case.
    Hubbard VG; Whittaker SJ
    J Cutan Pathol; 2004 Mar; 31(3):281-3. PubMed ID: 14984583
    [TBL] [Abstract][Full Text] [Related]  

  • 27. CTG repeat size and histologic findings of skeletal muscle from patients with congenital myotonic dystrophy.
    Tachi N; Kozuka N; Ohya K; Chiba S; Kikuchi K
    J Child Neurol; 1996 Nov; 11(6):430-2. PubMed ID: 9120218
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Congenital myotonic dystrophy.
    Gulati S; Kabra M; Gera S; Kalra V; Saxena R; Verma IC
    Indian J Pediatr; 2001 May; 68(5):451-3. PubMed ID: 11407162
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Bilateral optic nerve atrophy in myotonic dystrophy.
    Gamez J; Montane D; Martorell L; Minoves T; Cervera C
    Am J Ophthalmol; 2001 Mar; 131(3):398-400. PubMed ID: 11239886
    [TBL] [Abstract][Full Text] [Related]  

  • 30. [From gene to disease; altered RNA processing as a cause of myotonic dystrophy type 1].
    de Die-Smulders CE; Faber CG; Smeets HJ
    Ned Tijdschr Geneeskd; 2005 Sep; 149(37):2043-6. PubMed ID: 16184945
    [TBL] [Abstract][Full Text] [Related]  

  • 31. 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]  

  • 32. Coincident trinucleotide repeat expansions in a patient with myotonic dystrophy type 1 and spinocerebellar ataxia.
    Kolb SJ; Kissel JT
    J Clin Neuromuscul Dis; 2008 Sep; 10(1):22-3. PubMed ID: 18772697
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Efficient CRISPR/Cas9-mediated editing of trinucleotide repeat expansion in myotonic dystrophy patient-derived iPS and myogenic cells.
    Dastidar S; Ardui S; Singh K; Majumdar D; Nair N; Fu Y; Reyon D; Samara E; Gerli MFM; Klein AF; De Schrijver W; Tipanee J; Seneca S; Tulalamba W; Wang H; Chai YC; In't Veld P; Furling D; Tedesco FS; Vermeesch JR; Joung JK; Chuah MK; VandenDriessche T
    Nucleic Acids Res; 2018 Sep; 46(16):8275-8298. PubMed ID: 29947794
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Idiopathic ventricular fibrillation and the V1764fsX1786 frameshift mutation of the SCN5A gene in a myotonic dystrophy type 1 patient.
    Shimoyama T; Hayashi H; Suzuki F; Nishiyama Y; Miyamoto Y; Aiba T; Shimizu W; Kimura K
    J Clin Neurosci; 2020 Apr; 74():242-244. PubMed ID: 32063450
    [TBL] [Abstract][Full Text] [Related]  

  • 35. [Disease picture of myotonic muscular dystrophy in patients with large CTG triplet expansion].
    Spranger M; Janssen B; Rating D; Spranger S
    Nervenarzt; 1999 Feb; 70(2):131-5. PubMed ID: 10098148
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Proximal myotonic myopathy and proximal myotonic dystrophy: two different entities? The phenotypic variability of proximal myotonic syndromes.
    Schneider C; Wessig C; Müller CR; Brechtelsbauer D; Grimm T
    Neuromuscul Disord; 2001 Jul; 11(5):485-8. PubMed ID: 11404122
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Skin features in myotonic dystrophy type 1: an observational study.
    Campanati A; Giannoni M; Buratti L; Cagnetti C; Giuliodori K; Ganzetti G; Silvestrini M; Provinciali L; Offidani A
    Neuromuscul Disord; 2015 May; 25(5):409-13. PubMed ID: 25813338
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Spectrum of Hybrid Cysts and Their Clinical Significance.
    Chang RS; Yao XF; Wu YH
    Am J Dermatopathol; 2018 Jun; 40(6):397-400. PubMed ID: 28937429
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Myotonic dystrophy type 1 testing, 2024 revision: A technical standard of the American College of Medical Genetics and Genomics (ACMG).
    Seifert BA; Reddi HV; Kang BE; Bean LJH; Shealy A; Rose NC;
    Genet Med; 2024 Aug; 26(8):101145. PubMed ID: 38836869
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Myotonic dystrophies: An update on clinical aspects, genetic, pathology, and molecular pathomechanisms.
    Meola G; Cardani R
    Biochim Biophys Acta; 2015 Apr; 1852(4):594-606. PubMed ID: 24882752
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 7.