BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

307 related articles for article (PubMed ID: 32993534)

  • 1. Novel FHL1 mutation variant identified in a patient with nonobstructive hypertrophic cardiomyopathy and myopathy - a case report.
    Giucă A; Mitu C; Popescu BO; Bastian AE; Capşa R; Mursă A; Rădoi V; Popescu BA; Jurcuţ R
    BMC Med Genet; 2020 Sep; 21(1):188. PubMed ID: 32993534
    [TBL] [Abstract][Full Text] [Related]  

  • 2. X-linked Recessive Distal Myopathy With Hypertrophic Cardiomyopathy Caused by a Novel Mutation in the FHL1 Gene.
    D'Arcy C; Kanellakis V; Forbes R; Wilding B; McGrath M; Howell K; Ryan M; McLean C
    J Child Neurol; 2015 Aug; 30(9):1211-7. PubMed ID: 25246303
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Skeletal muscle biopsy analysis in reducing body myopathy and other FHL1-related disorders.
    Malfatti E; Olivé M; Taratuto AL; Richard P; Brochier G; Bitoun M; Gueneau L; Laforêt P; Stojkovic T; Maisonobe T; Monges S; Lubieniecki F; Vasquez G; Streichenberger N; Lacène E; Saccoliti M; Prudhon B; Alexianu M; Figarella-Branger D; Schessl J; Bonnemann C; Eymard B; Fardeau M; Bonne G; Romero NB
    J Neuropathol Exp Neurol; 2013 Sep; 72(9):833-45. PubMed ID: 23965743
    [TBL] [Abstract][Full Text] [Related]  

  • 4. FHL1-related myopathy may not be classified by reducing bodies in muscle biopsy.
    Chen T; Lu X; Shi Q; Guo J; Wang H; Wang Q; Yin X; Zhang Y; Pu C; Zhou D
    Neuromuscul Disord; 2020 Feb; 30(2):165-172. PubMed ID: 32001145
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Evidence for FHL1 as a novel disease gene for isolated hypertrophic cardiomyopathy.
    Friedrich FW; Wilding BR; Reischmann S; Crocini C; Lang P; Charron P; Müller OJ; McGrath MJ; Vollert I; Hansen A; Linke WA; Hengstenberg C; Bonne G; Morner S; Wichter T; Madeira H; Arbustini E; Eschenhagen T; Mitchell CA; Isnard R; Carrier L
    Hum Mol Genet; 2012 Jul; 21(14):3237-54. PubMed ID: 22523091
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Reducing body myopathy and other FHL1-related muscular disorders.
    Schessl J; Feldkirchner S; Kubny C; Schoser B
    Semin Pediatr Neurol; 2011 Dec; 18(4):257-63. PubMed ID: 22172421
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Isolated X-linked hypertrophic cardiomyopathy caused by a novel mutation of the four-and-a-half LIM domain 1 gene.
    Hartmannova H; Kubanek M; Sramko M; Piherova L; Noskova L; Hodanova K; Stranecky V; Pristoupilova A; Sovova J; Marek T; Maluskova J; Ridzon P; Kautzner J; Hulkova H; Kmoch S
    Circ Cardiovasc Genet; 2013 Dec; 6(6):543-51. PubMed ID: 24114807
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Molecular autopsy and family screening in a young case of sudden cardiac death reveals an unusually severe case of FHL1 related hypertrophic cardiomyopathy.
    Gaertner-Rommel A; Tiesmeier J; Jakob T; Strickmann B; Veit G; Bachmann-Mennenga B; Paluszkiewicz L; Klingel K; Schulz U; Laser KT; Karger B; Pfeiffer H; Milting H
    Mol Genet Genomic Med; 2019 Aug; 7(8):e841. PubMed ID: 31293105
    [TBL] [Abstract][Full Text] [Related]  

  • 9. FHL1 mutants that cause clinically distinct human myopathies form protein aggregates and impair myoblast differentiation.
    Wilding BR; McGrath MJ; Bonne G; Mitchell CA
    J Cell Sci; 2014 May; 127(Pt 10):2269-81. PubMed ID: 24634512
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Myofibrillar myopathy caused by a novel FHL1 mutation presenting a mild myopathy with ankle contracture.
    Park YE; Kim DS; Shin JH
    Clin Neurol Neurosurg; 2019 May; 180():48-51. PubMed ID: 30928807
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Phenotypic heterogeneity in British patients with a founder mutation in the FHL1 gene.
    Sarkozy A; Windpassinger C; Hudson J; Dougan CF; Lecky B; Hilton-Jones D; Eagle M; Charlton R; Barresi R; Lochmüller H; Bushby K; Straub V
    Eur J Hum Genet; 2011 Oct; 19(10):1038-44. PubMed ID: 21629301
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy.
    Gueneau L; Bertrand AT; Jais JP; Salih MA; Stojkovic T; Wehnert M; Hoeltzenbein M; Spuler S; Saitoh S; Verschueren A; Tranchant C; Beuvin M; Lacene E; Romero NB; Heath S; Zelenika D; Voit T; Eymard B; Ben Yaou R; Bonne G
    Am J Hum Genet; 2009 Sep; 85(3):338-53. PubMed ID: 19716112
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Unclassifiable arrhythmic cardiomyopathy associated with Emery-Dreifuss caused by a mutation in FHL1.
    San Román I; Navarro M; Martínez F; Albert L; Polo L; Guardiola J; García-Molina E; Muñoz-Esparza C; López-Ayala JM; Sabater-Molina M; Gimeno JR
    Clin Genet; 2016 Aug; 90(2):171-6. PubMed ID: 26857240
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Muscle hypertrophy as the presenting sign in a patient with a complete FHL1 deletion.
    Willis TA; Wood CL; Hudson J; Polvikoski T; Barresi R; Lochmüller H; Bushby K; Straub V
    Clin Genet; 2016 Aug; 90(2):166-70. PubMed ID: 27409453
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Spongious hypertrophic cardiomyopathy in patients with mutations in the four-and-a-half LIM domain 1 gene.
    Binder JS; Weidemann F; Schoser B; Niemann M; Machann W; Beer M; Plank G; Schmidt A; Bisping E; Poparic I; Lafer I; Stojakovic T; Quasthoff S; Vincent JB; Rienmueller R; Speicher MR; Berghold A; Pieske B; Windpassinger C
    Circ Cardiovasc Genet; 2012 Oct; 5(5):490-502. PubMed ID: 22923418
    [TBL] [Abstract][Full Text] [Related]  

  • 16. An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1.
    Windpassinger C; Schoser B; Straub V; Hochmeister S; Noor A; Lohberger B; Farra N; Petek E; Schwarzbraun T; Ofner L; Löscher WN; Wagner K; Lochmüller H; Vincent JB; Quasthoff S
    Am J Hum Genet; 2008 Jan; 82(1):88-99. PubMed ID: 18179888
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Fhl1 W122S causes loss of protein function and late-onset mild myopathy.
    Emmanuele V; Kubota A; Garcia-Diaz B; Garone C; Akman HO; Sánchez-Gutiérrez D; Escudero LM; Kariya S; Homma S; Tanji K; Quinzii CM; Hirano M
    Hum Mol Genet; 2015 Feb; 24(3):714-26. PubMed ID: 25274776
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Exome Sequencing Identified a Splice Site Mutation in FHL1 that Causes Uruguay Syndrome, an X-Linked Disorder With Skeletal Muscle Hypertrophy and Premature Cardiac Death.
    Xue Y; Schoser B; Rao AR; Quadrelli R; Vaglio A; Rupp V; Beichler C; Nelson SF; Schapacher-Tilp G; Windpassinger C; Wilcox WR
    Circ Cardiovasc Genet; 2016 Apr; 9(2):130-5. PubMed ID: 26933038
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Three novel FHL1 variants cause a mild phenotype of Emery-Dreifuss muscular dystrophy.
    Borch JDS; Krag T; Holm-Yildiz SD; Cetin H; Solheim TA; Fornander F; Straub V; Duno M; Vissing J
    Hum Mutat; 2022 Sep; 43(9):1234-1238. PubMed ID: 35607917
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Dysregulation of FHL1 spliceforms due to an indel mutation produces an Emery-Dreifuss muscular dystrophy plus phenotype.
    Tiffin HR; Jenkins ZA; Gray MJ; Cameron-Christie SR; Eaton J; Aftimos S; Markie D; Robertson SP
    Neurogenetics; 2013 May; 14(2):113-21. PubMed ID: 23456229
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 16.