BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

239 related articles for article (PubMed ID: 20976770)

  • 1. Early onset collagen VI myopathies: Genetic and clinical correlations.
    Briñas L; Richard P; Quijano-Roy S; Gartioux C; Ledeuil C; Lacène E; Makri S; Ferreiro A; Maugenre S; Topaloglu H; Haliloglu G; Pénisson-Besnier I; Jeannet PY; Merlini L; Navarro C; Toutain A; Chaigne D; Desguerre I; de Die-Smulders C; Dunand M; Echenne B; Eymard B; Kuntzer T; Maincent K; Mayer M; Plessis G; Rivier F; Roelens F; Stojkovic T; Taratuto AL; Lubieniecki F; Monges S; Tranchant C; Viollet L; Romero NB; Estournet B; Guicheney P; Allamand V
    Ann Neurol; 2010 Oct; 68(4):511-20. PubMed ID: 20976770
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myopathy.
    Mercuri E; Lampe A; Allsop J; Knight R; Pane M; Kinali M; Bonnemann C; Flanigan K; Lapini I; Bushby K; Pepe G; Muntoni F
    Neuromuscul Disord; 2005 Apr; 15(4):303-10. PubMed ID: 15792870
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathy.
    Lucioli S; Giusti B; Mercuri E; Vanegas OC; Lucarini L; Pietroni V; Urtizberea A; Ben Yaou R; de Visser M; van der Kooi AJ; Bönnemann C; Iannaccone ST; Merlini L; Bushby K; Muntoni F; Bertini E; Chu ML; Pepe G
    Neurology; 2005 Jun; 64(11):1931-7. PubMed ID: 15955946
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Long-term follow-up of patients with recessive dystrophic epidermolysis bullosa in the Netherlands: expansion of the mutation database and unusual phenotype-genotype correlations.
    van den Akker PC; van Essen AJ; Kraak MM; Meijer R; Nijenhuis M; Meijer G; Hofstra RM; Pas HH; Scheffer H; Jonkman MF
    J Dermatol Sci; 2009 Oct; 56(1):9-18. PubMed ID: 19665875
    [TBL] [Abstract][Full Text] [Related]  

  • 5. COL6A1 genomic deletions in Bethlem myopathy and Ullrich muscular dystrophy.
    Pepe G; Lucarini L; Zhang RZ; Pan TC; Giusti B; Quijano-Roy S; Gartioux C; Bushby KM; Guicheney P; Chu ML
    Ann Neurol; 2006 Jan; 59(1):190-5. PubMed ID: 16278855
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Position of glycine substitutions in the triple helix of COL6A1, COL6A2, and COL6A3 is correlated with severity and mode of inheritance in collagen VI myopathies.
    Butterfield RJ; Foley AR; Dastgir J; Asman S; Dunn DM; Zou Y; Hu Y; Donkervoort S; Flanigan KM; Swoboda KJ; Winder TL; Weiss RB; Bönnemann CG
    Hum Mutat; 2013 Nov; 34(11):1558-67. PubMed ID: 24038877
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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; 14(2):279-93. PubMed ID: 15563506
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Muscle interstitial fibroblasts are the main source of collagen VI synthesis in skeletal muscle: implications for congenital muscular dystrophy types Ullrich and Bethlem.
    Zou Y; Zhang RZ; Sabatelli P; Chu ML; Bönnemann CG
    J Neuropathol Exp Neurol; 2008 Feb; 67(2):144-54. PubMed ID: 18219255
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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; 8(4):633-645. PubMed ID: 33749658
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A comparative analysis of collagen VI production in muscle, skin and fibroblasts from 14 Ullrich congenital muscular dystrophy patients with dominant and recessive COL6A mutations.
    Jimenez-Mallebrera C; Maioli MA; Kim J; Brown SC; Feng L; Lampe AK; Bushby K; Hicks D; Flanigan KM; Bonnemann C; Sewry CA; Muntoni F
    Neuromuscul Disord; 2006 Oct; 16(9-10):571-82. PubMed ID: 16935502
    [TBL] [Abstract][Full Text] [Related]  

  • 11. "Target" and "Sandwich" Signs in Thigh Muscles have High Diagnostic Values for Collagen VI-related Myopathies.
    Fu J; Zheng YM; Jin SQ; Yi JF; Liu XJ; Lyn H; Wang ZX; Zhang W; Xiao JX; Yuan Y
    Chin Med J (Engl); 2016 Aug; 129(15):1811-6. PubMed ID: 27453230
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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; 35(2):103-12. PubMed ID: 15127309
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype.
    Scacheri PC; Gillanders EM; Subramony SH; Vedanarayanan V; Crowe CA; Thakore N; Bingler M; Hoffman EP
    Neurology; 2002 Feb; 58(4):593-602. PubMed ID: 11865138
    [TBL] [Abstract][Full Text] [Related]  

  • 14. [Collagenopathy (Ullrich congenital muscular dystrophy, Bethlem myopathy)].
    Higuchi I
    Rinsho Shinkeigaku; 2005 Nov; 45(11):935-7. PubMed ID: 16447767
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A novel de novo COL6A1 mutation emphasizes the role of intron 14 donor splice site defects as a cause of moderate-progressive form of ColVI myopathy - a case report and review of the genotype-phenotype correlation.
    Koppolu AA; Madej-Pilarczyk A; Rydzanicz M; Kosińska J; Gasperowicz P; Dorszewska J; Kozubski W; Steinborn B; Kochański AM; Płoski R
    Folia Neuropathol; 2017; 55(3):214-220. PubMed ID: 28984114
    [TBL] [Abstract][Full Text] [Related]  

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

  • 17. Consequences of mutations within the C terminus of the FHL1 gene.
    Schoser B; Goebel HH; Janisch I; Quasthoff S; Rother J; Bergmann M; Müller-Felber W; Windpassinger C
    Neurology; 2009 Aug; 73(7):543-51. PubMed ID: 19687455
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Germinal mosaicism for LMNA mimics autosomal recessive congenital muscular dystrophy.
    Makri S; Clarke NF; Richard P; Maugenre S; Demay L; Bonne G; Guicheney P
    Neuromuscul Disord; 2009 Jan; 19(1):26-8. PubMed ID: 19084400
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Autosomal recessive Bethlem myopathy.
    Gualandi F; Urciuolo A; Martoni E; Sabatelli P; Squarzoni S; Bovolenta M; Messina S; Mercuri E; Franchella A; Ferlini A; Bonaldo P; Merlini L
    Neurology; 2009 Dec; 73(22):1883-91. PubMed ID: 19949035
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Natural history of pulmonary function in collagen VI-related myopathies.
    Foley AR; Quijano-Roy S; Collins J; Straub V; McCallum M; Deconinck N; Mercuri E; Pane M; D'Amico A; Bertini E; North K; Ryan MM; Richard P; Allamand V; Hicks D; Lamandé S; Hu Y; Gualandi F; Auh S; Muntoni F; Bönnemann CG
    Brain; 2013 Dec; 136(Pt 12):3625-33. PubMed ID: 24271325
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.