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Journal Abstract Search

656 related items for PubMed ID: 16141002

  • 1. Collagen VI related muscle disorders.
    Lampe AK, Bushby KM.
    J Med Genet; 2005 Sep; 42(9):673-85. PubMed ID: 16141002
    [Abstract] [Full Text] [Related]

  • 2. 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; 42(2):108-20. PubMed ID: 15689448
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  • 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
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  • 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
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  • 7. Autosomal dominant Ullrich congenital muscular dystrophy due to a de novo mutation in COL6A3 gene. A case report.
    Picillo E, Torella A, Passamano L, Nigro V, Politano L.
    Acta Myol; 2022 Jun 15; 41(2):95-98. PubMed ID: 35832501
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  • 9. Collagen type VI myopathies.
    Bushby KM, Collins J, Hicks D.
    Adv Exp Med Biol; 2014 Jun 15; 802():185-99. PubMed ID: 24443028
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  • 10. 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
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  • 11. Autosomal recessive Bethlem myopathy: A clinical, genetic and functional study.
    Caria F, Cescon M, Gualandi F, Pichiecchio A, Rossi R, Rimessi P, Cotti Piccinelli S, Gallo Cassarino S, Gregorio I, Galvagni A, Ferlini A, Padovani A, Bonaldo P, Filosto M.
    Neuromuscul Disord; 2019 Sep 15; 29(9):657-663. PubMed ID: 31471117
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  • 13. 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 15; 35(2):103-12. PubMed ID: 15127309
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  • 14. [Collagenopathy (Ullrich congenital muscular dystrophy, Bethlem myopathy)].
    Higuchi I.
    Rinsho Shinkeigaku; 2005 Nov 15; 45(11):935-7. PubMed ID: 16447767
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  • 15. Collagen VI in the Musculoskeletal System.
    Di Martino A, Cescon M, D'Agostino C, Schilardi F, Sabatelli P, Merlini L, Faldini C.
    Int J Mol Sci; 2023 Mar 07; 24(6):. PubMed ID: 36982167
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  • 16. Ullrich congenital muscular dystrophy and Bethlem myopathy: clinical and genetic heterogeneity.
    Reed UC, Ferreira LG, Liu EC, Resende MB, Carvalho MS, Marie SK, Scaff M.
    Arq Neuropsiquiatr; 2005 Sep 07; 63(3B):785-90. PubMed ID: 16258657
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  • 17. Variable penetrance of COL6A1 null mutations: implications for prenatal diagnosis and genetic counselling in Ullrich congenital muscular dystrophy families.
    Peat RA, Baker NL, Jones KJ, North KN, Lamandé SR.
    Neuromuscul Disord; 2007 Jul 07; 17(7):547-57. PubMed ID: 17537636
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  • 18. 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 07; 70(6):1446-58. PubMed ID: 11992252
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  • 19. 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 07; 192():105734. PubMed ID: 32065942
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