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 *

118 related articles for article (PubMed ID: 31305444)

  • 41. Clinical features and genotypes of Laing distal myopathy in a group of Chinese patients, with in-frame deletions of MYH7 as common mutations.
    Yu M; Zhu Y; Lu Y; Lv H; Zhang W; Yuan Y; Wang Z
    Orphanet J Rare Dis; 2020 Dec; 15(1):344. PubMed ID: 33298082
    [TBL] [Abstract][Full Text] [Related]  

  • 42. Autosomal dominant eccentric core disease caused by a heterozygous mutation in the MYH7 gene.
    Romero NB; Xie T; Malfatti E; Schaeffer U; Böhm J; Wu B; Xu F; Boucebci S; Mathis S; Neau JP; Monnier N; Fardeau M; Laporte J
    J Neurol Neurosurg Psychiatry; 2014 Oct; 85(10):1149-52. PubMed ID: 24828896
    [TBL] [Abstract][Full Text] [Related]  

  • 43. Distal myosin heavy chain-7 myopathy due to the novel transition c.5566G>A (p.E1856K) with high interfamilial cardiac variability and putative anticipation.
    Finsterer J; Brandau O; Stöllberger C; Wallefeld W; Laing NG; Laccone F
    Neuromuscul Disord; 2014 Aug; 24(8):721-5. PubMed ID: 24953931
    [TBL] [Abstract][Full Text] [Related]  

  • 44. Biallelic mutation in MYH7 and MYBPC3 leads to severe cardiomyopathy with left ventricular noncompaction phenotype.
    Kolokotronis K; Kühnisch J; Klopocki E; Dartsch J; Rost S; Huculak C; Mearini G; Störk S; Carrier L; Klaassen S; Gerull B
    Hum Mutat; 2019 Aug; 40(8):1101-1114. PubMed ID: 30924982
    [TBL] [Abstract][Full Text] [Related]  

  • 45. Clinical and imaging hallmarks of the MYH7-related myopathy with severe axial involvement.
    Dabaj I; Carlier RY; Gómez-Andrés D; Neto OA; Bertini E; D'amico A; Fattori F; PéRéon Y; Castiglioni C; Rodillo E; Catteruccia M; Guimarães JB; Oliveira ASB; Reed UC; Mesrob L; Lechner D; Boland A; Deleuze JF; Malfatti E; Bonnemann C; Laporte J; Romero N; Felter A; Quijano-Roy S; Moreno CAM; Zanoteli E
    Muscle Nerve; 2018 Aug; 58(2):224-234. PubMed ID: 29624713
    [TBL] [Abstract][Full Text] [Related]  

  • 46. [Myosin storage myopathy: a rare subtype of protein aggregate myopathies].
    Kiphuth IC; Neuen-Jacob E; Struffert T; Wehner M; Wallefeld W; Laing N; Schröder R
    Fortschr Neurol Psychiatr; 2010 Apr; 78(4):219-22. PubMed ID: 20376763
    [TBL] [Abstract][Full Text] [Related]  

  • 47. Laing distal myopathy with a novel mutation in exon 34 of the MYH7 gene.
    Ferbert A; Zibat A; Rautenstrauß B; Kress W; Hügens-Penzel M; Weis J; Shah Y; Roth C
    Neuromuscul Disord; 2016 Sep; 26(9):598-603. PubMed ID: 27469267
    [TBL] [Abstract][Full Text] [Related]  

  • 48. Flexi-Myo Panel Strategy: Genomic Diagnoses of Myopathies and Muscular Dystrophies by Next-Generation Sequencing.
    Lee HH; Lau WL; Ko CH; Lee KC; Cheng FY; Wong S; Woo YH; Mak CM
    Genet Test Mol Biomarkers; 2020 Feb; 24(2):99-104. PubMed ID: 30907627
    [No Abstract]   [Full Text] [Related]  

  • 49. Mutations in the sarcomere gene MYH7 in Ebstein anomaly.
    Postma AV; van Engelen K; van de Meerakker J; Rahman T; Probst S; Baars MJ; Bauer U; Pickardt T; Sperling SR; Berger F; Moorman AF; Mulder BJ; Thierfelder L; Keavney B; Goodship J; Klaassen S
    Circ Cardiovasc Genet; 2011 Feb; 4(1):43-50. PubMed ID: 21127202
    [TBL] [Abstract][Full Text] [Related]  

  • 50. A de novo mutation of the beta cardiac myosin heavy chain gene in an infantile restrictive cardiomyopathy.
    Karam S; Raboisson MJ; Ducreux C; Chalabreysse L; Millat G; Bozio A; Bouvagnet P
    Congenit Heart Dis; 2008; 3(2):138-43. PubMed ID: 18380764
    [TBL] [Abstract][Full Text] [Related]  

  • 51. 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]  

  • 52. Cautionary note on the use of
    Gil-Gálvez A; Carbonell-Corvillo P; Paradas C; Miranda-Vizuete A
    Biotechniques; 2020 Jun; 68(6):296-299. PubMed ID: 32301330
    [TBL] [Abstract][Full Text] [Related]  

  • 53. Homozygous mutation in MYH7 in myosin storage myopathy and cardiomyopathy.
    Tajsharghi H; Oldfors A; Macleod DP; Swash M
    Neurology; 2007 Mar; 68(12):962. PubMed ID: 17372140
    [No Abstract]   [Full Text] [Related]  

  • 54. Prevalence and Phenotypic Expression of Mutations in the MYH7, MYBPC3 and TNNT2 Genes in Families with Hypertrophic Cardiomyopathy in the South of Brazil: A Cross-Sectional Study.
    Mattos BP; Scolari FL; Torres MA; Simon L; Freitas VC; Giugliani R; Matte Ú
    Arq Bras Cardiol; 2016 Sep; 107(3):257-265. PubMed ID: 27737317
    [TBL] [Abstract][Full Text] [Related]  

  • 55. Clinical diversity of MYH7-related cardiomyopathies: Insights into genotype-phenotype correlations.
    Hershkovitz T; Kurolap A; Ruhrman-Shahar N; Monakier D; DeChene ET; Peretz-Amit G; Funke B; Zucker N; Hirsch R; Tan WH; Baris Feldman H
    Am J Med Genet A; 2019 Mar; 179(3):365-372. PubMed ID: 30588760
    [TBL] [Abstract][Full Text] [Related]  

  • 56. A new de novo missense mutation in MYH2 expands clinical and genetic findings in hereditary myosin myopathies.
    D'Amico A; Fattori F; Bellacchio E; Catteruccia M; Servidei S; Bertini E
    Neuromuscul Disord; 2013 May; 23(5):437-40. PubMed ID: 23489661
    [TBL] [Abstract][Full Text] [Related]  

  • 57. Familial ebstein anomaly, left ventricular hypertrabeculation, and ventricular septal defect associated with a MYH7 mutation.
    Bettinelli AL; Mulder TJ; Funke BH; Lafferty KA; Longo SA; Niyazov DM
    Am J Med Genet A; 2013 Dec; 161A(12):3187-90. PubMed ID: 23956225
    [TBL] [Abstract][Full Text] [Related]  

  • 58. Hypertrophic cardiomyopathy: low frequency of mutations in the beta-myosin heavy chain (MYH7) and cardiac troponin T (TNNT2) genes among Spanish patients.
    García-Castro M; Reguero JR; Batalla A; Díaz-Molina B; González P; Alvarez V; Cortina A; Cubero GI; Coto E
    Clin Chem; 2003 Aug; 49(8):1279-85. PubMed ID: 12881443
    [TBL] [Abstract][Full Text] [Related]  

  • 59. Hereditary myosin myopathies.
    Oldfors A
    Neuromuscul Disord; 2007 May; 17(5):355-67. PubMed ID: 17434305
    [TBL] [Abstract][Full Text] [Related]  

  • 60. A de novo germline mutation in MYH7 causes a progressive dominant myopathy in pigs.
    Murgiano L; Tammen I; Harlizius B; Drögemüller C
    BMC Genet; 2012 Nov; 13():99. PubMed ID: 23153285
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 6.