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 *

152 related articles for article (PubMed ID: 38308084)

  • 41. Frequency of SCA1, SCA2, SCA3/MJD, SCA6, SCA7, and DRPLA CAG trinucleotide repeat expansion in patients with hereditary spinocerebellar ataxia from Chinese kindreds.
    Tang B; Liu C; Shen L; Dai H; Pan Q; Jing L; Ouyang S; Xia J
    Arch Neurol; 2000 Apr; 57(4):540-4. PubMed ID: 10768629
    [TBL] [Abstract][Full Text] [Related]  

  • 42. Accurate typing of short tandem repeats from genome-wide sequencing data and its applications.
    Fungtammasan A; Ananda G; Hile SE; Su MS; Sun C; Harris R; Medvedev P; Eckert K; Makova KD
    Genome Res; 2015 May; 25(5):736-49. PubMed ID: 25823460
    [TBL] [Abstract][Full Text] [Related]  

  • 43. Complete sequencing of expanded SAMD12 repeats by long-read sequencing and Cas9-mediated enrichment.
    Mizuguchi T; Toyota T; Miyatake S; Mitsuhashi S; Doi H; Kudo Y; Kishida H; Hayashi N; Tsuburaya RS; Kinoshita M; Fukuyama T; Fukuda H; Koshimizu E; Tsuchida N; Uchiyama Y; Fujita A; Takata A; Miyake N; Kato M; Tanaka F; Adachi H; Matsumoto N
    Brain; 2021 May; 144(4):1103-1117. PubMed ID: 33791773
    [TBL] [Abstract][Full Text] [Related]  

  • 44. Molecular genetic analysis of trinucleotide repeat disorders (TRDs) in Indian population and application of repeat primed PCR.
    Das Bhowmik A; Rangaswamaiah S; Srinivas G; Dalal AB
    Eur J Med Genet; 2015 Mar; 58(3):160-7. PubMed ID: 25534560
    [TBL] [Abstract][Full Text] [Related]  

  • 45. Dominantly inherited, non-coding microsatellite expansion disorders.
    Ranum LP; Day JW
    Curr Opin Genet Dev; 2002 Jun; 12(3):266-71. PubMed ID: 12076668
    [TBL] [Abstract][Full Text] [Related]  

  • 46. Diagnostic value of whole-exome sequencing in Chinese pediatric-onset neuromuscular patients.
    Tsang MHY; Chiu ATG; Kwong BMH; Liang R; Yu MHC; Yeung KS; Ho WHL; Mak CCY; Leung GKC; Pei SLC; Fung JLF; Wong VCN; Muntoni F; Chung BHY; Chan SHS
    Mol Genet Genomic Med; 2020 May; 8(5):e1205. PubMed ID: 32154989
    [TBL] [Abstract][Full Text] [Related]  

  • 47. When moments matter: Finding answers with rapid exome sequencing.
    Powis Z; Farwell Hagman KD; Blanco K; Au M; Graham JM; Singh K; Gallant N; Randolph LM; Towne M; Hunter J; Shinde DN; Palmaer E; Schoenfeld B; Tang S
    Mol Genet Genomic Med; 2020 Feb; 8(2):e1027. PubMed ID: 31872981
    [TBL] [Abstract][Full Text] [Related]  

  • 48. Single-Tube Dodecaplex PCR Panel of Polymorphic Microsatellite Markers Closely Linked to the
    Lian M; Zhao M; Lee CG; Chong SS
    Clin Chem; 2017 Jun; 63(6):1127-1140. PubMed ID: 28428361
    [TBL] [Abstract][Full Text] [Related]  

  • 49. 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]  

  • 50. A highly sensitive and specific workflow for detecting rare copy-number variants from exome sequencing data.
    Rajagopalan R; Murrell JR; Luo M; Conlin LK
    Genome Med; 2020 Jan; 12(1):14. PubMed ID: 32000839
    [TBL] [Abstract][Full Text] [Related]  

  • 51. Interruptions in the expanded ATTCT repeat of spinocerebellar ataxia type 10: repeat purity as a disease modifier?
    Matsuura T; Fang P; Pearson CE; Jayakar P; Ashizawa T; Roa BB; Nelson DL
    Am J Hum Genet; 2006 Jan; 78(1):125-9. PubMed ID: 16385455
    [TBL] [Abstract][Full Text] [Related]  

  • 52. De novo repeat interruptions are associated with reduced somatic instability and mild or absent clinical features in myotonic dystrophy type 1.
    Cumming SA; Hamilton MJ; Robb Y; Gregory H; McWilliam C; Cooper A; Adam B; McGhie J; Hamilton G; Herzyk P; Tschannen MR; Worthey E; Petty R; Ballantyne B; ; Warner J; Farrugia ME; Longman C; Monckton DG
    Eur J Hum Genet; 2018 Nov; 26(11):1635-1647. PubMed ID: 29967337
    [TBL] [Abstract][Full Text] [Related]  

  • 53. STRetch: detecting and discovering pathogenic short tandem repeat expansions.
    Dashnow H; Lek M; Phipson B; Halman A; Sadedin S; Lonsdale A; Davis M; Lamont P; Clayton JS; Laing NG; MacArthur DG; Oshlack A
    Genome Biol; 2018 Aug; 19(1):121. PubMed ID: 30129428
    [TBL] [Abstract][Full Text] [Related]  

  • 54. The importance of dynamic re-analysis in diagnostic whole exome sequencing.
    Need AC; Shashi V; Schoch K; Petrovski S; Goldstein DB
    J Med Genet; 2017 Mar; 54(3):155-156. PubMed ID: 27899421
    [No Abstract]   [Full Text] [Related]  

  • 55. Uninterrupted CCTG tracts in the myotonic dystrophy type 2 associated locus.
    Radvanszky J; Surovy M; Polak E; Kadasi L
    Neuromuscul Disord; 2013 Jul; 23(7):591-8. PubMed ID: 23561036
    [TBL] [Abstract][Full Text] [Related]  

  • 56. New methods for molecular diagnosis and demonstration of the (CCTG)n mutation in myotonic dystrophy type 2 (DM2).
    Sallinen R; Vihola A; Bachinski LL; Huoponen K; Haapasalo H; Hackman P; Zhang S; Sirito M; Kalimo H; Meola G; Horelli-Kuitunen N; Wessman M; Krahe R; Udd B
    Neuromuscul Disord; 2004 Apr; 14(4):274-83. PubMed ID: 15019706
    [TBL] [Abstract][Full Text] [Related]  

  • 57. Trinucleotide repeats in neurogenetic disorders.
    Paulson HL; Fischbeck KH
    Annu Rev Neurosci; 1996; 19():79-107. PubMed ID: 8833437
    [TBL] [Abstract][Full Text] [Related]  

  • 58. Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies.
    Arts P; Simons A; AlZahrani MS; Yilmaz E; AlIdrissi E; van Aerde KJ; Alenezi N; AlGhamdi HA; AlJubab HA; Al-Hussaini AA; AlManjomi F; Alsaad AB; Alsaleem B; Andijani AA; Asery A; Ballourah W; Bleeker-Rovers CP; van Deuren M; van der Flier M; Gerkes EH; Gilissen C; Habazi MK; Hehir-Kwa JY; Henriet SS; Hoppenreijs EP; Hortillosa S; Kerkhofs CH; Keski-Filppula R; Lelieveld SH; Lone K; MacKenzie MA; Mensenkamp AR; Moilanen J; Nelen M; Ten Oever J; Potjewijd J; van Paassen P; Schuurs-Hoeijmakers JHM; Simon A; Stokowy T; van de Vorst M; Vreeburg M; Wagner A; van Well GTJ; Zafeiropoulou D; Zonneveld-Huijssoon E; Veltman JA; van Zelst-Stams WAG; Faqeih EA; van de Veerdonk FL; Netea MG; Hoischen A
    Genome Med; 2019 Jun; 11(1):38. PubMed ID: 31203817
    [TBL] [Abstract][Full Text] [Related]  

  • 59. Characterization of full-length
    Alfano M; De Antoni L; Centofanti F; Visconti VV; Maestri S; Degli Esposti C; Massa R; D'Apice MR; Novelli G; Delledonne M; Botta A; Rossato M
    Elife; 2022 Aug; 11():. PubMed ID: 36018009
    [TBL] [Abstract][Full Text] [Related]  

  • 60. A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders.
    Ngo KJ; Rexach JE; Lee H; Petty LE; Perlman S; Valera JM; Deignan JL; Mao Y; Aker M; Posey JE; Jhangiani SN; Coban-Akdemir ZH; Boerwinkle E; Muzny D; Nelson AB; Hassin-Baer S; Poke G; Neas K; Geschwind MD; Grody WW; Gibbs R; Geschwind DH; Lupski JR; Below JE; Nelson SF; Fogel BL
    Hum Mutat; 2020 Feb; 41(2):487-501. PubMed ID: 31692161
    [TBL] [Abstract][Full Text] [Related]  

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