BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

243 related articles for article (PubMed ID: 31660661)

  • 1. Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy.
    Bryen SJ; Ewans LJ; Pinner J; MacLennan SC; Donkervoort S; Castro D; Töpf A; O'Grady G; Cummings B; Chao KR; Weisburd B; Francioli L; Faiz F; Bournazos AM; Hu Y; Grosmann C; Malicki DM; Doyle H; Witting N; Vissing J; Claeys KG; Urankar K; Beleza-Meireles A; Baptista J; Ellard S; Savarese M; Johari M; Vihola A; Udd B; Majumdar A; Straub V; Bönnemann CG; MacArthur DG; Davis MR; Cooper ST
    Hum Mutat; 2020 Feb; 41(2):403-411. PubMed ID: 31660661
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Recognizable Pattern of Arthrogryposis and Congenital Myopathy Caused by the Recurrent TTN Metatranscript-only c.39974-11T > G Splice Variant.
    Averdunk L; Donkervoort S; Horn D; Waldmüller S; Syeda S; Neuhaus SB; Chao KR; van Riesen A; Gauck D; Haack T; Japp AS; Lee U; Bönnemann CG; Mayatepek E; Distelmaier F
    Neuropediatrics; 2022 Oct; 53(5):309-320. PubMed ID: 35605965
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A homozygous TTN gene variant associated with lethal congenital contracture syndrome.
    Chervinsky E; Khayat M; Soltsman S; Habiballa H; Elpeleg O; Shalev S
    Am J Med Genet A; 2018 Apr; 176(4):1001-1005. PubMed ID: 29575618
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Homozygous truncating mutation in prenatally expressed skeletal isoform of TTN gene results in arthrogryposis multiplex congenita and myopathy without cardiac involvement.
    Fernández-Marmiesse A; Carrascosa-Romero MC; Alfaro Ponce B; Nascimento A; Ortez C; Romero N; Palacios L; Jimenez-Mallebrera C; Jou C; Gouveia S; Couce ML
    Neuromuscul Disord; 2017 Feb; 27(2):188-192. PubMed ID: 28040389
    [TBL] [Abstract][Full Text] [Related]  

  • 5. The complexity of titin splicing pattern in human adult skeletal muscles.
    Savarese M; Jonson PH; Huovinen S; Paulin L; Auvinen P; Udd B; Hackman P
    Skelet Muscle; 2018 Mar; 8(1):11. PubMed ID: 29598826
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Novel compound heterozygous TTN variants as a cause of severe neonatal congenital contracture syndrome without cardiac involvement diagnosed with rapid trio exome sequencing.
    McDermott H; Henderson A; Robinson HK; Heaver R; Halahakoon C; Cox H; Naik S
    Neuromuscul Disord; 2021 Aug; 31(8):783-787. PubMed ID: 34303570
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Clinical and functional characterization of a long survivor congenital titinopathy patient with a novel metatranscript-only titin variant.
    Cardone N; Moula M; Baelde RJ; Biquand A; Villanova M; Metay C; Fiorillo C; Baratto S; Merlini L; Sabatelli P; Romero NB; Relaix F; Authier FJ; Taglietti V; Savarese M; de Winter J; Ottenheijm C; Richard I; Malfatti E
    Acta Neuropathol Commun; 2023 Mar; 11(1):48. PubMed ID: 36945066
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Exome Sequencing Reveals Novel
    Salih MA; Hamad MH; Savarese M; Alorainy IA; Al-Jarallah AS; Alkhalidi H; AlQudairy H; Albader A; Alotaibi AJ; Alsagob M; Al-Bakheet A; Colak D; Udd B; Kaya N
    Genet Test Mol Biomarkers; 2021 Dec; 25(12):757-764. PubMed ID: 34918981
    [No Abstract]   [Full Text] [Related]  

  • 9. Identification of four TTN variants in three families with fetal akinesia deformation sequence.
    Fan L; Li H; Xu Y; Huang Y; Qian Y; Jin P; Shen X; Li Z; Liu M; Liang Y; Shen G; Dong M
    BMC Med Genomics; 2024 Jun; 17(1):170. PubMed ID: 38937733
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Expanding the MYBPC1 phenotypic spectrum: a novel homozygous mutation causes arthrogryposis multiplex congenita.
    Ekhilevitch N; Kurolap A; Oz-Levi D; Mory A; Hershkovitz T; Ast G; Mandel H; Baris HN
    Clin Genet; 2016 Jul; 90(1):84-9. PubMed ID: 26661508
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Recessive TTN truncating mutations define novel forms of core myopathy with heart disease.
    Chauveau C; Bonnemann CG; Julien C; Kho AL; Marks H; Talim B; Maury P; Arne-Bes MC; Uro-Coste E; Alexandrovich A; Vihola A; Schafer S; Kaufmann B; Medne L; Hübner N; Foley AR; Santi M; Udd B; Topaloglu H; Moore SA; Gotthardt M; Samuels ME; Gautel M; Ferreiro A
    Hum Mol Genet; 2014 Feb; 23(4):980-91. PubMed ID: 24105469
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Fetal akinesia deformation sequence syndrome associated with recessive TTN variants.
    Alkhunaizi E; Martin N; Jelin AC; Rosner M; Bailey DJ; Steiner LA; Lakhani S; Ji W; Katzman PJ; Forster KR; Jarinova O; Shannon P; Chitayat D;
    Am J Med Genet A; 2023 Mar; 191(3):760-769. PubMed ID: 36495114
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant.
    Sandaradura SA; Bournazos A; Mallawaarachchi A; Cummings BB; Waddell LB; Jones KJ; Troedson C; Sudarsanam A; Nash BM; Peters GB; Algar EM; MacArthur DG; North KN; Brammah S; Charlton A; Laing NG; Wilson MJ; Davis MR; Cooper ST
    Hum Mutat; 2018 Mar; 39(3):383-388. PubMed ID: 29266598
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Biallelic truncating TTN variants in M-band encoding exons cause a fetal lethal titinopathy.
    Li MW; Li F; Cheng ZX; Cheng J; Wu Q; Wang ZX; Wang F; Zhou P
    Prenat Diagn; 2024 Jan; 44(1):81-87. PubMed ID: 38148006
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A novel recessive TTN founder variant is a common cause of distal myopathy in the Serbian population.
    Perić S; Glumac JN; Töpf A; Savić-Pavićević D; Phillips L; Johnson K; Cassop-Thompson M; Xu L; Bertoli M; Lek M; MacArthur D; Brkušanin M; Milenković S; Rašić VM; Banko B; Maksimović R; Lochmüller H; Stojanović VR; Straub V
    Eur J Hum Genet; 2017 May; 25(5):572-581. PubMed ID: 28295036
    [TBL] [Abstract][Full Text] [Related]  

  • 16. The importance of an integrated genotype-phenotype strategy to unravel the molecular bases of titinopathies.
    Perrin A; Juntas Morales R; Rivier F; Cances C; Walther-Louvier U; Van Goethem C; Thèze C; Lacourt D; Pégeot H; Zenagui R; Uro-Coste E; Leboucq N; Malfatti E; Delaby C; Lehmann S; Rigau V; Koenig M; Cossée M
    Neuromuscul Disord; 2020 Nov; 30(11):877-887. PubMed ID: 33127292
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Familial childhood onset, slowly progressive myopathy plus cardiomyopathy expands the phenotype related to variants in the TTN gene.
    Perna A; Bosco L; Fattori F; Torchia E; Modoni A; Papacci M; Petrucci A; Tasca G; Ricci E; Bertini ES; Silvestri G
    Neuromuscul Disord; 2024 Apr; 37():1-5. PubMed ID: 38430701
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Embryonic myosin heavy-chain mutations cause distal arthrogryposis and developmental myosin myopathy that persists postnatally.
    Tajsharghi H; Kimber E; Kroksmark AK; Jerre R; Tulinius M; Oldfors A
    Arch Neurol; 2008 Aug; 65(8):1083-90. PubMed ID: 18695058
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Two novel mutations in TTN of a patient with congenital myopathy: A case report.
    Jang JY; Park Y; Jang DH; Jang JH; Ryu JS
    Mol Genet Genomic Med; 2019 Aug; 7(8):e866. PubMed ID: 31332964
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Contribution of Noncanonical Splice Variants to
    Patel PN; Ito K; Willcox JAL; Haghighi A; Jang MY; Gorham JM; DePalma SR; Lam L; McDonough B; Johnson R; Lakdawala NK; Roberts A; Barton PJR; Cook SA; Fatkin D; Seidman CE; Seidman JG
    Circ Genom Precis Med; 2021 Oct; 14(5):e003389. PubMed ID: 34461741
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.