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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

374 related items for PubMed ID: 16887026

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  • 25. [A patient of Walker-Warburg syndrome with a haplotype different from that in Fukuyama-type congenital muscular dystrophy].
    Sasaki M, Kondo E, Yamashita Y, Toda T, Nonaka I.
    No To Hattatsu; 1999 Sep; 31(5):445-51. PubMed ID: 10487070
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  • 27. Diagnostic criteria for Walker-Warburg syndrome.
    Dobyns WB, Pagon RA, Armstrong D, Curry CJ, Greenberg F, Grix A, Holmes LB, Laxova R, Michels VV, Robinow M.
    Am J Med Genet; 1989 Feb; 32(2):195-210. PubMed ID: 2494887
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  • 28. Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.
    Godfrey C, Clement E, Mein R, Brockington M, Smith J, Talim B, Straub V, Robb S, Quinlivan R, Feng L, Jimenez-Mallebrera C, Mercuri E, Manzur AY, Kinali M, Torelli S, Brown SC, Sewry CA, Bushby K, Topaloglu H, North K, Abbs S, Muntoni F.
    Brain; 2007 Oct; 130(Pt 10):2725-35. PubMed ID: 17878207
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  • 29. Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East.
    Manzini MC, Gleason D, Chang BS, Hill RS, Barry BJ, Partlow JN, Poduri A, Currier S, Galvin-Parton P, Shapiro LR, Schmidt K, Davis JG, Basel-Vanagaite L, Seidahmed MZ, Salih MA, Dobyns WB, Walsh CA.
    Hum Mutat; 2008 Nov; 29(11):E231-41. PubMed ID: 18752264
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  • 30. Two new patients bearing mutations in the fukutin gene confirm the relevance of this gene in Walker-Warburg syndrome.
    Cotarelo RP, Valero MC, Prados B, Peña A, Rodríguez L, Fano O, Marco JJ, Martínez-Frías ML, Cruces J.
    Clin Genet; 2008 Feb; 73(2):139-45. PubMed ID: 18177472
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  • 31. POMT2, a key enzyme in Walker-Warburg syndrome: somatic sPOMT2, but not testis-specific tPOMT2, is crucial for mannosyltransferase activity in vivo.
    Lommel M, Willer T, Strahl S.
    Glycobiology; 2008 Aug; 18(8):615-25. PubMed ID: 18490429
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  • 32. Walker-Warburg syndrome: report of three affected sibs.
    Rodgers BL, Vanner LV, Pai GS, Sens MA.
    Am J Med Genet; 1994 Jan 15; 49(2):198-201. PubMed ID: 8116667
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  • 33. Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: less severe mutations predominate in patients with a non-Walker-Warburg phenotype.
    Yis U, Uyanik G, Heck PB, Smitka M, Nobel H, Ebinger F, Dirik E, Feng L, Kurul SH, Brocke K, Unalp A, Özer E, Cakmakci H, Sewry C, Cirak S, Muntoni F, Hehr U, Morris-Rosendahl DJ.
    Neuromuscul Disord; 2011 Jan 15; 21(1):20-30. PubMed ID: 20961758
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  • 34. Noncompaction cardiomyopathy in an infant with Walker-Warburg syndrome.
    Abdullah S, Hawkins C, Wilson G, Yoon G, Mertens L, Carter MT, Guerin A.
    Am J Med Genet A; 2017 Nov 15; 173(11):3082-3086. PubMed ID: 28980384
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  • 35. Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome.
    Currier SC, Lee CK, Chang BS, Bodell AL, Pai GS, Job L, Lagae LG, Al-Gazali LI, Eyaid WM, Enns G, Dobyns WB, Walsh CA.
    Am J Med Genet A; 2005 Feb 15; 133A(1):53-7. PubMed ID: 15637732
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  • 36. Diagnosis and etiology of congenital muscular dystrophy.
    Peat RA, Smith JM, Compton AG, Baker NL, Pace RA, Burkin DJ, Kaufman SJ, Lamandé SR, North KN.
    Neurology; 2008 Jul 29; 71(5):312-21. PubMed ID: 18160674
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  • 37. Glycosylation defects: a new mechanism for muscular dystrophy?
    Grewal PK, Hewitt JE.
    Hum Mol Genet; 2003 Oct 15; 12 Spec No 2():R259-64. PubMed ID: 12925572
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  • 38. Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease.
    Cormand B, Pihko H, Bayés M, Valanne L, Santavuori P, Talim B, Gershoni-Baruch R, Ahmad A, van Bokhoven H, Brunner HG, Voit T, Topaloglu H, Dobyns WB, Lehesjoki AE.
    Neurology; 2001 Apr 24; 56(8):1059-69. PubMed ID: 11320179
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  • 39. Skeletal muscle MRI of the lower limbs in congenital muscular dystrophy patients with novel POMT1 and POMT2 mutations.
    Hafner P, Bonati U, Fischmann A, Schneider J, Frank S, Morris-Rosendahl DJ, Dumea A, Heinimann K, Fischer D.
    Neuromuscul Disord; 2014 Apr 24; 24(4):321-4. PubMed ID: 24556424
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  • 40. POMT1 and POMT2 mutations in CMD patients: a multicentric Italian study.
    Messina S, Mora M, Pegoraro E, Pini A, Mongini T, D'Amico A, Pane M, Aiello C, Bruno C, Biancheri R, Berardinelli A, Boito C, Farina L, Morandi L, Moroni I, Pezzani R, Pichiecchio A, Ricci E, Ruggieri A, Saredi S, Scuderi C, Tessa A, Toscano A, Tortorella G, Trevisan CP, Uggetti C, Santorelli FM, Bertini E, Mercuri E.
    Neuromuscul Disord; 2008 Jul 24; 18(7):565-71. PubMed ID: 18513969
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