BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

203 related articles for article (PubMed ID: 8596321)

  • 1. Diagnosis of merosin (laminin-2) deficient congenital muscular dystrophy by skin biopsy.
    Sewry CA; Philpot J; Sorokin LM; Wilson LA; Naom I; Goodwin F; D'Alessandro M; Dubowitz V; Muntoni F
    Lancet; 1996 Mar; 347(9001):582-4. PubMed ID: 8596321
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Expression of laminin chains in skin in merosin-deficient congenital muscular dystrophy.
    Sewry CA; D'Alessandro M; Wilson LA; Sorokin LM; Naom I; Bruno S; Ferlini A; Dubowitz V; Muntoni F
    Neuropediatrics; 1997 Aug; 28(4):217-22. PubMed ID: 9309712
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Congenital muscular dystrophy with primary laminin alpha2 (merosin) deficiency presenting as inflammatory myopathy.
    Pegoraro E; Mancias P; Swerdlow SH; Raikow RB; Garcia C; Marks H; Crawford T; Carver V; Di Cianno B; Hoffman EP
    Ann Neurol; 1996 Nov; 40(5):782-91. PubMed ID: 8957020
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Immunohistochemical study of merosin-negative congenital muscular dystrophy: laminin alpha 2 deficiency in skin biopsy.
    Marbini A; Bellanova MF; Ferrari A; Lodesani M; Gemignani F
    Acta Neuropathol; 1997 Aug; 94(2):103-8. PubMed ID: 9255383
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Evidence of left ventricular dysfunction in children with merosin-deficient congenital muscular dystrophy.
    Spyrou N; Philpot J; Foale R; Camici PG; Muntoni F
    Am Heart J; 1998 Sep; 136(3):474-6. PubMed ID: 9736139
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Prenatal diagnosis in laminin alpha2 chain (merosin)-deficient congenital muscular dystrophy: a collective experience of five international centers.
    Vainzof M; Richard P; Herrmann R; Jimenez-Mallebrera C; Talim B; Yamamoto LU; Ledeuil C; Mein R; Abbs S; Brockington M; Romero NB; Zatz M; Topaloglu H; Voit T; Sewry C; Muntoni F; Guicheney P; Tomé FM
    Neuromuscul Disord; 2005 Oct; 15(9-10):588-94. PubMed ID: 16084089
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Laminin alpha2 deficient congenital muscular dystrophy: prenatal diagnosis.
    Nass D; Goldberg I; Sadeh M
    Early Hum Dev; 1999 May; 55(1):19-24. PubMed ID: 10367979
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Substitution of a conserved cysteine-996 in a cysteine-rich motif of the laminin alpha2-chain in congenital muscular dystrophy with partial deficiency of the protein.
    Nissinen M; Helbling-Leclerc A; Zhang X; Evangelista T; Topaloglu H; Cruaud C; Weissenbach J; Fardeau M; Tomé FM; Schwartz K; Tryggvason K; Guicheney P
    Am J Hum Genet; 1996 Jun; 58(6):1177-84. PubMed ID: 8651294
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [Congenital muscular dystrophy with laminin-a2 deficiency in early infancy: diagnosis and long-term follow-up].
    Panteliadis C; Karatza E; Xinias I; Flaris N; Tzitiridou M; Ramantani G
    Klin Padiatr; 2005; 217(5):281-5. PubMed ID: 16167276
    [TBL] [Abstract][Full Text] [Related]  

  • 10. The role of immunocytochemistry and linkage analysis in the prenatal diagnosis of merosin-deficient congenital muscular dystrophy.
    Naom I; D'Alessandro M; Sewry C; Ferlini A; Topaloglu H; Helbling-Leclerc A; Guicheney P; Schwartz K; Akcoren Z; Dubowitz V; Muntoni F
    Hum Genet; 1997 Apr; 99(4):535-40. PubMed ID: 9099847
    [TBL] [Abstract][Full Text] [Related]  

  • 11. The expanding phenotype of laminin alpha2 chain (merosin) abnormalities: case series and review.
    Jones KJ; Morgan G; Johnston H; Tobias V; Ouvrier RA; Wilkinson I; North KN
    J Med Genet; 2001 Oct; 38(10):649-57. PubMed ID: 11584042
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Abnormal expression of laminin beta 1 chain in skeletal muscle of adult-onset limb-girdle muscular dystrophy.
    Li M; Dickson DW; Spiro AJ
    Arch Neurol; 1997 Dec; 54(12):1457-61. PubMed ID: 9400354
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Preserved merosin M-chain (or laminin-alpha 2) expression in skeletal muscle distinguishes Walker-Warburg syndrome from Fukuyama muscular dystrophy and merosin-deficient congenital muscular dystrophy.
    Voit T; Sewry CA; Meyer K; Hermann R; Straub V; Muntoni F; Kahn T; Unsöld R; Helliwell TR; Appleton R
    Neuropediatrics; 1995 Jun; 26(3):148-55. PubMed ID: 7477753
    [TBL] [Abstract][Full Text] [Related]  

  • 14. [Congenital muscular dystrophy with merosin deficiency: clinical, histopathological, immunocytochemical and genetic analysis].
    Fardeau M; Tomé FM; Helbling-Leclerc A; Evangelista T; Ottolini A; Chevallay M; Barois A; Estournet B; Harpey JP; Fauré S; Guicheney P; Hillaire D
    Rev Neurol (Paris); 1996 Jan; 152(1):11-9. PubMed ID: 8729391
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Refinement of the laminin alpha2 chain locus to human chromosome 6q2 in severe and mild merosin deficient congenital muscular dystrophy.
    Naom IS; D'Alessandro M; Topaloglu H; Sewry C; Ferlini A; Helbling-Leclerc A; Guicheney P; Weissenbach J; Schwartz K; Bushby K; Philpot J; Dubowitz V; Muntoni F
    J Med Genet; 1997 Feb; 34(2):99-104. PubMed ID: 9039983
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Congenital muscular dystrophy: use of brain MR imaging findings to predict merosin deficiency.
    Lamer S; Carlier RY; Pinard JM; Mompoint D; Bagard C; Burdairon E; Estournet B; Barois A; Vallée C
    Radiology; 1998 Mar; 206(3):811-6. PubMed ID: 9494506
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Variable clinical phenotype in merosin-deficient congenital muscular dystrophy associated with differential immunolabelling of two fragments of the laminin alpha 2 chain.
    Sewry CA; Naom I; D'Alessandro M; Sorokin L; Bruno S; Wilson LA; Dubowitz V; Muntoni F
    Neuromuscul Disord; 1997 May; 7(3):169-75. PubMed ID: 9185180
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Merosin-deficient congenital muscular dystrophy type 1A.
    Buteică E; Roşulescu E; Burada F; Stănoiu B; Zăvăleanu M
    Rom J Morphol Embryol; 2008; 49(2):229-33. PubMed ID: 18516331
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Assignment of a form of congenital muscular dystrophy with secondary merosin deficiency to chromosome 1q42.
    Brockington M; Sewry CA; Herrmann R; Naom I; Dearlove A; Rhodes M; Topaloglu H; Dubowitz V; Voit T; Muntoni F
    Am J Hum Genet; 2000 Feb; 66(2):428-35. PubMed ID: 10677302
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [Muscular dystrophies due to alterations at extracellular space level: congenital muscular dystrophy caused by merosin deficiency].
    Smeyers P
    Rev Neurol; 1999 Jan 16-31; 28(2):141-9. PubMed ID: 10101782
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.