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 *

140 related articles for article (PubMed ID: 38308084)

  • 61. 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]  

  • 62. Short Tandem Repeat Expansions and RNA-Mediated Pathogenesis in Myotonic Dystrophy.
    Sznajder ŁJ; Swanson MS
    Int J Mol Sci; 2019 Jul; 20(13):. PubMed ID: 31323950
    [TBL] [Abstract][Full Text] [Related]  

  • 63. Filipino DNA variation at 12 X-chromosome short tandem repeat markers.
    Salvador JM; Apaga DLT; Delfin FC; Calacal GC; Dennis SE; De Ungria MCA
    Forensic Sci Int Genet; 2018 Sep; 36():e8-e12. PubMed ID: 29909139
    [TBL] [Abstract][Full Text] [Related]  

  • 64. Small increase in triplet repeat length of cerebellum from patients with myotonic dystrophy.
    Ishii S; Nishio T; Sunohara N; Yoshihara T; Takemura K; Hikiji K; Tsujino S; Sakuragawa N
    Hum Genet; 1996 Aug; 98(2):138-40. PubMed ID: 8698328
    [TBL] [Abstract][Full Text] [Related]  

  • 65. Before progressing from "exomes" to "genomes"… don't forget splicing variants.
    Shaikh SS; Nahorski MS; Rai H; Woods CG
    Eur J Hum Genet; 2018 Nov; 26(11):1559-1562. PubMed ID: 30002500
    [No Abstract]   [Full Text] [Related]  

  • 66. 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]  

  • 67. Frequency of spinocerebellar ataxia mutations in patients with multiple system atrophy.
    Wernick AI; Walton RL; Soto-Beasley AI; Koga S; Heckman MG; Valentino RR; Milanowski LM; Hoffman-Zacharska D; Koziorowski D; Hassan A; Uitti RJ; Cheshire WP; Singer W; Wszolek ZK; Dickson DW; Low PA; Ross OA
    Clin Auton Res; 2021 Feb; 31(1):117-125. PubMed ID: 33502644
    [TBL] [Abstract][Full Text] [Related]  

  • 68. An Update on the Adult-Onset Hereditary Cerebellar Ataxias: Novel Genetic Causes and New Diagnostic Approaches.
    Rudaks LI; Yeow D; Ng K; Deveson IW; Kennerson ML; Kumar KR
    Cerebellum; 2024 Oct; 23(5):2152-2168. PubMed ID: 38760634
    [TBL] [Abstract][Full Text] [Related]  

  • 69. Dentatorubral-pallidoluysian atrophy: clinical features are closely related to unstable expansions of trinucleotide (CAG) repeat.
    Ikeuchi T; Koide R; Tanaka H; Onodera O; Igarashi S; Takahashi H; Kondo R; Ishikawa A; Tomoda A; Miike T
    Ann Neurol; 1995 Jun; 37(6):769-75. PubMed ID: 7778850
    [TBL] [Abstract][Full Text] [Related]  

  • 70. Whole-exome sequencing as the first-tier test for patients in neonatal intensive care unit: a Chinese single-center study.
    Zhang R; Cui X; Zhang Y; Ma H; Gao J; Zhang Y; Shu J; Cai C; Liu Y
    BMC Pediatr; 2024 May; 24(1):351. PubMed ID: 38778310
    [TBL] [Abstract][Full Text] [Related]  

  • 71. Detection of
    Casse F; Courtin T; Tesson C; Ferrien M; Noël S; Fauret-Amsellem AL; Gareau T; Guegan J; Anheim M; Mariani LL; Le Forestier N; Tranchant C; Corvol JC; Lesage S; Brice A;
    Mov Disord Clin Pract; 2023 Apr; 10(4):664-669. PubMed ID: 37070044
    [TBL] [Abstract][Full Text] [Related]  

  • 72. Dominant non-coding repeat expansions in human disease.
    Dick KA; Margolis JM; Day JW; Ranum LPW
    Genome Dyn; 2006; 1():67-83. PubMed ID: 18724054
    [TBL] [Abstract][Full Text] [Related]  

  • 73. High-frequency actionable pathogenic exome variants in an average-risk cohort.
    Rego S; Dagan-Rosenfeld O; Zhou W; Sailani MR; Limcaoco P; Colbert E; Avina M; Wheeler J; Craig C; Salins D; Röst HL; Dunn J; McLaughlin T; Steinmetz LM; Bernstein JA; Snyder MP
    Cold Spring Harb Mol Case Stud; 2018 Dec; 4(6):. PubMed ID: 30487145
    [TBL] [Abstract][Full Text] [Related]  

  • 74. 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]  

  • 75. A molecular protocol for diagnosing myotonic dystrophy.
    Guida M; Marger RS; Papp AC; Snyder PJ; Sedra MS; Kissel JT; Mendell JR; Prior TW
    Clin Chem; 1995 Jan; 41(1):69-72. PubMed ID: 7813083
    [TBL] [Abstract][Full Text] [Related]  

  • 76. SMRT Sequencing of Long Tandem Nucleotide Repeats in SCA10 Reveals Unique Insight of Repeat Expansion Structure.
    McFarland KN; Liu J; Landrian I; Godiska R; Shanker S; Yu F; Farmerie WG; Ashizawa T
    PLoS One; 2015; 10(8):e0135906. PubMed ID: 26295943
    [TBL] [Abstract][Full Text] [Related]  

  • 77. Clinical and genetic features of dominant Essential Tremor in Tuscany, Italy: FUS, CAMTA1, ATXN1 and beyond.
    Orsucci D; Tessa A; Caldarazzo Ienco E; Trovato R; Natale G; Bilancieri G; Giuntini M; Napolitano A; Salvetti S; Vista M; Santorelli FM
    J Neurol Sci; 2024 May; 460():123012. PubMed ID: 38626532
    [TBL] [Abstract][Full Text] [Related]  

  • 78. Expanded CAG Repeats in ATXN1, ATXN2, ATXN3, and HTT in the 1000 Genomes Project.
    Akçimen F; Ross JP; Liao C; Spiegelman D; Dion PA; Rouleau GA
    Mov Disord; 2021 Feb; 36(2):514-518. PubMed ID: 33159825
    [TBL] [Abstract][Full Text] [Related]  

  • 79. Genetic diagnosis of autoinflammatory disease patients using clinical exome sequencing.
    Batlle-Masó L; Mensa-Vilaró A; Solís-Moruno M; Marquès-Bonet T; Arostegui JI; Casals F
    Eur J Med Genet; 2020 May; 63(5):103920. PubMed ID: 32222431
    [TBL] [Abstract][Full Text] [Related]  

  • 80. Detection of long repeat expansions from PCR-free whole-genome sequence data.
    Dolzhenko E; van Vugt JJFA; Shaw RJ; Bekritsky MA; van Blitterswijk M; Narzisi G; Ajay SS; Rajan V; Lajoie BR; Johnson NH; Kingsbury Z; Humphray SJ; Schellevis RD; Brands WJ; Baker M; Rademakers R; Kooyman M; Tazelaar GHP; van Es MA; McLaughlin R; Sproviero W; Shatunov A; Jones A; Al Khleifat A; Pittman A; Morgan S; Hardiman O; Al-Chalabi A; Shaw C; Smith B; Neo EJ; Morrison K; Shaw PJ; Reeves C; Winterkorn L; Wexler NS; ; Housman DE; Ng CW; Li AL; Taft RJ; van den Berg LH; Bentley DR; Veldink JH; Eberle MA
    Genome Res; 2017 Nov; 27(11):1895-1903. PubMed ID: 28887402
    [TBL] [Abstract][Full Text] [Related]  

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