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Journal Abstract Search

212 related items for PubMed ID: 11761483

  • 1. Complete allele information in the diagnosis of facioscapulohumeral muscular dystrophy by triple DNA analysis.
    Lemmers RJL, de Kievit P, van Geel M, van der Wielen MJ, Bakker E, Padberg GW, Frants RR, van der Maarel SM.
    Ann Neurol; 2001 Dec; 50(6):816-9. PubMed ID: 11761483
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  • 2. Facioscapulohumeral muscular dystrophy with EcoRI/BlnI fragment size of more than 32 kb.
    Vielhaber S, Jakubiczka S, Schröder JM, Sailer M, Feistner H, Heinze HJ, Wieacker P, Bettecken T.
    Muscle Nerve; 2002 Apr; 25(4):540-8. PubMed ID: 11932972
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  • 3. Interchromosomal repeat array interactions between chromosomes 4 and 10: a model for subtelomeric plasticity.
    van Overveld PG, Lemmers RJ, Deidda G, Sandkuijl L, Padberg GW, Frants RR, van der Maarel SM.
    Hum Mol Genet; 2000 Nov 22; 9(19):2879-84. PubMed ID: 11092764
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  • 4. D4F104S1 deletion in facioscapulohumeral muscular dystrophy: phenotype, size, and detection.
    Lemmers RJ, Osborn M, Haaf T, Rogers M, Frants RR, Padberg GW, Cooper DN, van der Maarel SM, Upadhyaya M.
    Neurology; 2003 Jul 22; 61(2):178-83. PubMed ID: 12874395
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  • 5. Validation of Optical Genome Mapping for the Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy.
    Stence AA, Thomason JG, Pruessner JA, Sompallae RR, Snow AN, Ma D, Moore SA, Bossler AD.
    J Mol Diagn; 2021 Nov 22; 23(11):1506-1514. PubMed ID: 34384893
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  • 7. A new dosage test for subtelomeric 4;10 translocations improves conventional diagnosis of facioscapulohumeral muscular dystrophy (FSHD).
    van der Maarel SM, Deidda G, Lemmers RJ, Bakker E, van der Wielen MJ, Sandkuijl L, Hewitt JE, Padberg GW, Frants RR.
    J Med Genet; 1999 Nov 22; 36(11):823-8. PubMed ID: 10544225
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  • 10. Sequence homology between 4qter and 10qter loci facilitates the instability of subtelomeric KpnI repeat units implicated in facioscapulohumeral muscular dystrophy.
    Cacurri S, Piazzo N, Deidda G, Vigneti E, Galluzzi G, Colantoni L, Merico B, Ricci E, Felicetti L.
    Am J Hum Genet; 1998 Jul 22; 63(1):181-90. PubMed ID: 9634507
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  • 12. Genetic confirmation of facioscapulohumeral muscular dystrophy in a case with complex D4Z4 rearrangments.
    Buzhov BT, Lemmers RJ, Tournev I, Dikova C, Kremensky I, Petrova J, Frants RR, van der Maarel SM.
    Hum Genet; 2005 Mar 22; 116(4):262-6. PubMed ID: 15645183
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  • 13. Rapid and accurate diagnosis of facioscapulohumeral muscular dystrophy.
    Goto K, Nishino I, Hayashi YK.
    Neuromuscul Disord; 2006 Apr 22; 16(4):256-61. PubMed ID: 16545566
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  • 14. De novo facioscapulohumeral muscular dystrophy: frequent somatic mosaicism, sex-dependent phenotype, and the role of mitotic transchromosomal repeat interaction between chromosomes 4 and 10.
    van der Maarel SM, Deidda G, Lemmers RJ, van Overveld PG, van der Wielen M, Hewitt JE, Sandkuijl L, Bakker B, van Ommen GJ, Padberg GW, Frants RR.
    Am J Hum Genet; 2000 Jan 22; 66(1):26-35. PubMed ID: 10631134
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  • 15. The Facioscapulohumeral muscular dystrophy region on 4qter and the homologous locus on 10qter evolved independently under different evolutionary pressure.
    Rossi M, Ricci E, Colantoni L, Galluzzi G, Frusciante R, Tonali PA, Felicetti L.
    BMC Med Genet; 2007 Mar 02; 8():8. PubMed ID: 17335567
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