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 *

170 related articles for article (PubMed ID: 36599645)

  • 1. Fast and reliable detection of repeat expansions in spinocerebellar ataxia using exomes.
    Méreaux JL; Davoine CS; Coutelier M; Guillot-Noël L; Castrioto A; Charles P; Coarelli G; Ewenczyk C; Klebe S; Heinzmann A; Méneret A; Fauret-Amsellem AL; de Sainte Agathe JM; Brice A; Durr A
    J Med Genet; 2023 Jul; 60(7):717-721. PubMed ID: 36599645
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Genome-wide sequencing as a first-tier screening test for short tandem repeat expansions.
    Rajan-Babu IS; Peng JJ; Chiu R; ; ; Li C; Mohajeri A; Dolzhenko E; Eberle MA; Birol I; Friedman JM
    Genome Med; 2021 Aug; 13(1):126. PubMed ID: 34372915
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Whole Exome Sequencing Indicating GGCCTG Hexanucleotide Repeat in Patients with Spinocerebellar Ataxia Type 36.
    Chen R; Zhou C; Peng Y; Huang P; Yu Y; Zhu M; Zhou M; Hong D; Tan D
    Neurodegener Dis; 2024; 24(2):71-79. PubMed ID: 38934198
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes.
    Tezenas du Montcel S; Durr A; Bauer P; Figueroa KP; Ichikawa Y; Brussino A; Forlani S; Rakowicz M; Schöls L; Mariotti C; van de Warrenburg BP; Orsi L; Giunti P; Filla A; Szymanski S; Klockgether T; Berciano J; Pandolfo M; Boesch S; Melegh B; Timmann D; Mandich P; Camuzat A; ; ; Goto J; Ashizawa T; Cazeneuve C; Tsuji S; Pulst SM; Brusco A; Riess O; Brice A; Stevanin G
    Brain; 2014 Sep; 137(Pt 9):2444-55. PubMed ID: 24972706
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Trinucleotide repeats in 202 families with ataxia: a small expanded (CAG)n allele at the SCA17 locus.
    Silveira I; Miranda C; Guimarães L; Moreira MC; Alonso I; Mendonça P; Ferro A; Pinto-Basto J; Coelho J; Ferreirinha F; Poirier J; Parreira E; Vale J; Januário C; Barbot C; Tuna A; Barros J; Koide R; Tsuji S; Holmes SE; Margolis RL; Jardim L; Pandolfo M; Coutinho P; Sequeiros J
    Arch Neurol; 2002 Apr; 59(4):623-9. PubMed ID: 11939898
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families.
    Brusco A; Gellera C; Cagnoli C; Saluto A; Castucci A; Michielotto C; Fetoni V; Mariotti C; Migone N; Di Donato S; Taroni F
    Arch Neurol; 2004 May; 61(5):727-33. PubMed ID: 15148151
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Rapid Diagnosis of Spinocerebellar Ataxia 36 in a Three-Generation Family Using Short-Read Whole-Genome Sequencing Data.
    Rafehi H; Szmulewicz DJ; Pope K; Wallis M; Christodoulou J; White SM; Delatycki MB; Lockhart PJ; Bahlo M
    Mov Disord; 2020 Sep; 35(9):1675-1679. PubMed ID: 32407596
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Spinocerebellar Ataxia Tethering PCR: A Rapid Genetic Test for the Diagnosis of Spinocerebellar Ataxia Types 1, 2, 3, 6, and 7 by PCR and Capillary Electrophoresis.
    Cagnoli C; Brussino A; Mancini C; Ferrone M; Orsi L; Salmin P; Pappi P; Giorgio E; Pozzi E; Cavalieri S; Di Gregorio E; Ferrero M; Filla A; De Michele G; Gellera C; Mariotti C; Nethisinghe S; Giunti P; Stevanin G; Brusco A
    J Mol Diagn; 2018 May; 20(3):289-297. PubMed ID: 29462666
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study.
    Ibañez K; Polke J; Hagelstrom RT; Dolzhenko E; Pasko D; Thomas ERA; Daugherty LC; Kasperaviciute D; Smith KR; ; Deans ZC; Hill S; Fowler T; Scott RH; Hardy J; Chinnery PF; Houlden H; Rendon A; Caulfield MJ; Eberle MA; Taft RJ; Tucci A;
    Lancet Neurol; 2022 Mar; 21(3):234-245. PubMed ID: 35182509
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Repeat expansions in
    Novy C; Busk ØL; Tysnes OB; Landa SS; Aanjesen TN; Alstadhaug KB; Bjerknes TL; Bjørnå IK; Bråthen G; Dahl E; Demic N; Fahlström M; Flemmen HØ; Hallerstig E; HogenEsch I; Kampman MT; Kleveland G; Kvernmo HB; Ljøstad U; Maniaol A; Morsund AH; Nakken O; Olsen CG; Schlüter K; Utvik MS; Yaseen R; Holla ØL; Holmøy T; Høyer H
    Brain Commun; 2024; 6(2):fcae087. PubMed ID: 38585669
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Intermediate repeat expansions of TBP and STUB1: Genetic modifier or pure digenic inheritance in spinocerebellar ataxias?
    Barbier M; Davoine CS; Petit E; Porché M; Guillot-Noel L; Sayah S; Fauret AL; Neau JP; Guyant-Maréchal L; Deffond D; Tranchant C; Goizet C; Coarelli G; Castrioto A; Klebe S; Ewenczyk C; Heinzmann A; Charles P; Tchikviladzé M; Van Broeckhoven C; Brice A; Durr A
    Genet Med; 2023 Feb; 25(2):100327. PubMed ID: 36422518
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Diagnostic uplift through the implementation of short tandem repeat analysis using exome sequencing.
    Yoon JG; Lee S; Cho J; Kim N; Kim S; Kim MJ; Kim SY; Moon J; Chae JH
    Eur J Hum Genet; 2024 May; 32(5):584-587. PubMed ID: 38308084
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Linkage analysis and whole-exome sequencing exclude extra mutations responsible for the parkinsonian phenotype of spinocerebellar ataxia-2.
    Wang C; Xu Y; Feng X; Ma J; Xie S; Zhang Y; Tang BS; Chan P
    Neurobiol Aging; 2015 Jan; 36(1):545.e1-7. PubMed ID: 25189117
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Diagnosis of Spinocerebellar Ataxias Caused by Trinucleotide Repeat Expansions.
    Martindale JE
    Curr Protoc Hum Genet; 2017 Jan; 92():9.30.1-9.30.22. PubMed ID: 28075481
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Short tandem repeat expansions in sporadic amyotrophic lateral sclerosis and frontotemporal dementia.
    Henden L; Fearnley LG; Grima N; McCann EP; Dobson-Stone C; Fitzpatrick L; Friend K; Hobson L; Chan Moi Fat S; Rowe DB; D'Silva S; Kwok JB; Halliday GM; Kiernan MC; Mazumder S; Timmins HC; Zoing M; Pamphlett R; Adams L; Bahlo M; Blair IP; Williams KL
    Sci Adv; 2023 May; 9(18):eade2044. PubMed ID: 37146135
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Repeats expansions in
    Nel M; Mavundla T; Gultig K; Botha G; Mulder N; Benatar M; Wuu J; Cooley A; Myers J; Rampersaud E; Wu G; Heckmann JM
    IBRO Neurosci Rep; 2021 Jun; 10():130-135. PubMed ID: 34179866
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Repeat expansions in
    Lam T; Rocca C; Ibanez K; Dalmia A; Tallman S; Hadjivassiliou M; Hensiek A; Nemeth A; Facchini S; ; Wood N; Cortese A; Houlden H; Tucci A
    Brain Commun; 2023; 5(5):fcad244. PubMed ID: 37810464
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 9.