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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

269 related items for PubMed ID: 25978941

  • 1.
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  • 2.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Foley AR, Mohassel P, Donkervoort S, Bolduc V, Bönnemann CG.
    ; 1993. PubMed ID: 20301676
    [Abstract] [Full Text] [Related]

  • 3. Somatic mosaicism represents an underestimated event underlying collagen 6-related disorders.
    D'Amico A, Fattori F, Tasca G, Petrini S, Gualandi F, Bruselles A, D'Oria V, Verardo M, Carrozzo R, Niceta M, Udd B, Ferlini A, Tartaglia M, Bertini E.
    Eur J Paediatr Neurol; 2017 Nov; 21(6):873-883. PubMed ID: 28760337
    [Abstract] [Full Text] [Related]

  • 4. [Collagen VI-related muscle disorders].
    Higuchi I.
    Brain Nerve; 2011 Nov; 63(11):1169-78. PubMed ID: 22068469
    [Abstract] [Full Text] [Related]

  • 5. Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance.
    Lampe AK, Zou Y, Sudano D, O'Brien KK, Hicks D, Laval SH, Charlton R, Jimenez-Mallebrera C, Zhang RZ, Finkel RS, Tennekoon G, Schreiber G, van der Knaap MS, Marks H, Straub V, Flanigan KM, Chu ML, Muntoni F, Bushby KM, Bönnemann CG.
    Hum Mutat; 2008 Jun; 29(6):809-22. PubMed ID: 18366090
    [Abstract] [Full Text] [Related]

  • 6. Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy.
    Baker NL, Mörgelin M, Peat R, Goemans N, North KN, Bateman JF, Lamandé SR.
    Hum Mol Genet; 2005 Jan 15; 14(2):279-93. PubMed ID: 15563506
    [Abstract] [Full Text] [Related]

  • 7. Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy.
    Lampe AK, Dunn DM, von Niederhausern AC, Hamil C, Aoyagi A, Laval SH, Marie SK, Chu ML, Swoboda K, Muntoni F, Bonnemann CG, Flanigan KM, Bushby KM, Weiss RB.
    J Med Genet; 2005 Feb 15; 42(2):108-20. PubMed ID: 15689448
    [Abstract] [Full Text] [Related]

  • 8. Clinical and Molecular Spectrum Associated with COL6A3 c.7447A>G p.(Lys2483Glu) Variant: Elucidating its Role in Collagen VI-related Myopathies.
    Villar-Quiles RN, Donkervoort S, de Becdelièvre A, Gartioux C, Jobic V, Foley AR, McCarty RM, Hu Y, Menassa R, Michel L, Gousse G, Lacour A, Petiot P, Streichenberger N, Choumert A, Declerck L, Urtizberea JA, Sole G, Furby A, Cérino M, Krahn M, Campana-Salort E, Ferreiro A, Eymard B, Bönnemann CG, Bharucha-Goebel D, Sumner CJ, Connolly AM, Richard P, Allamand V, Métay C, Stojkovic T.
    J Neuromuscul Dis; 2021 Feb 15; 8(4):633-645. PubMed ID: 33749658
    [Abstract] [Full Text] [Related]

  • 9. Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variability.
    Donkervoort S, Hu Y, Stojkovic T, Voermans NC, Foley AR, Leach ME, Dastgir J, Bolduc V, Cullup T, de Becdelièvre A, Yang L, Su H, Meilleur K, Schindler AB, Kamsteeg EJ, Richard P, Butterfield RJ, Winder TL, Crawford TO, Weiss RB, Muntoni F, Allamand V, Bönnemann CG.
    Hum Mutat; 2015 Jan 15; 36(1):48-56. PubMed ID: 25204870
    [Abstract] [Full Text] [Related]

  • 10. Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy.
    Demir E, Sabatelli P, Allamand V, Ferreiro A, Moghadaszadeh B, Makrelouf M, Topaloglu H, Echenne B, Merlini L, Guicheney P.
    Am J Hum Genet; 2002 Jun 15; 70(6):1446-58. PubMed ID: 11992252
    [Abstract] [Full Text] [Related]

  • 11. New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype.
    Pan TC, Zhang RZ, Sudano DG, Marie SK, Bönnemann CG, Chu ML.
    Am J Hum Genet; 2003 Aug 15; 73(2):355-69. PubMed ID: 12840783
    [Abstract] [Full Text] [Related]

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  • 16. Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathies.
    Bovolenta M, Neri M, Martoni E, Urciuolo A, Sabatelli P, Fabris M, Grumati P, Mercuri E, Bertini E, Merlini L, Bonaldo P, Ferlini A, Gualandi F.
    BMC Med Genet; 2010 Mar 19; 11():44. PubMed ID: 20302629
    [Abstract] [Full Text] [Related]

  • 17. Clinical features of collagen VI-related dystrophies: A large Brazilian cohort.
    Zanoteli E, Soares PS, Silva AMSD, Camelo CG, Fonseca ATQSM, Albuquerque MAV, Moreno CAM, Lopes Abath Neto O, Novo Filho GM, Kulikowski LD, Reed UC.
    Clin Neurol Neurosurg; 2020 May 19; 192():105734. PubMed ID: 32065942
    [Abstract] [Full Text] [Related]

  • 18. COL6A1 mutation leading to Bethlem myopathy with recurrent hematuria: a case report.
    Bao M, Mao F, Zhao Z, Ma G, Xu G, Xu W, Chen H, Zhu M.
    BMC Neurol; 2019 Feb 26; 19(1):32. PubMed ID: 30808312
    [Abstract] [Full Text] [Related]

  • 19. Collagen VI status and clinical severity in Ullrich congenital muscular dystrophy: phenotype analysis of 11 families linked to the COL6 loci.
    Demir E, Ferreiro A, Sabatelli P, Allamand V, Makri S, Echenne B, Maraldi M, Merlini L, Topaloglu H, Guicheney P.
    Neuropediatrics; 2004 Apr 26; 35(2):103-12. PubMed ID: 15127309
    [Abstract] [Full Text] [Related]

  • 20. The collagen VI-related myopathies Ullrich congenital muscular dystrophy and Bethlem myopathy.
    Bönnemann CG.
    Handb Clin Neurol; 2011 Apr 26; 101():81-96. PubMed ID: 21496625
    [Abstract] [Full Text] [Related]

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