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Journal Abstract Search

1268 related items for PubMed ID: 18752307

  • 1. Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization.
    del Gaudio D, Yang Y, Boggs BA, Schmitt ES, Lee JA, Sahoo T, Pham HT, Wiszniewska J, Chinault AC, Beaudet AL, Eng CM.
    Hum Mutat; 2008 Sep; 29(9):1100-7. PubMed ID: 18752307
    [Abstract] [Full Text] [Related]

  • 2. Detection of exonic copy-number changes using a highly efficient oligonucleotide-based comparative genomic hybridization-array method.
    Saillour Y, Cossée M, Leturcq F, Vasson A, Beugnet C, Poirier K, Commere V, Sublemontier S, Viel M, Letourneur F, Barbot JC, Deburgrave N, Chelly J, Bienvenu T.
    Hum Mutat; 2008 Sep; 29(9):1083-90. PubMed ID: 18683213
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  • 3. Duchenne muscular dystrophy caused by a complex rearrangement between intron 43 of the DMD gene and chromosome 4.
    Baskin B, Gibson WT, Ray PN.
    Neuromuscul Disord; 2011 Mar; 21(3):178-82. PubMed ID: 21134752
    [Abstract] [Full Text] [Related]

  • 4. [Combining approach with multiplex PCR and MLPA to detect deletion and duplication in DMD patients, carriers, and prenatal diagnosis].
    Li H, Ding J, Wang W, Chen Y, Lu W, Shao H, Wu BL.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2009 Jun; 26(3):318-22. PubMed ID: 19504448
    [Abstract] [Full Text] [Related]

  • 5. Genetic diagnosis of Duchenne and Becker muscular dystrophy using next-generation sequencing technology: comprehensive mutational search in a single platform.
    Lim BC, Lee S, Shin JY, Kim JI, Hwang H, Kim KJ, Hwang YS, Seo JS, Chae JH.
    J Med Genet; 2011 Nov; 48(11):731-6. PubMed ID: 21969337
    [Abstract] [Full Text] [Related]

  • 6. Protein- and mRNA-based phenotype-genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene.
    Deburgrave N, Daoud F, Llense S, Barbot JC, Récan D, Peccate C, Burghes AH, Béroud C, Garcia L, Kaplan JC, Chelly J, Leturcq F.
    Hum Mutat; 2007 Feb; 28(2):183-95. PubMed ID: 17041906
    [Abstract] [Full Text] [Related]

  • 7. DGGE-based whole-gene mutation scanning of the dystrophin gene in Duchenne and Becker muscular dystrophy patients.
    Hofstra RM, Mulder IM, Vossen R, de Koning-Gans PA, Kraak M, Ginjaar IB, van der Hout AH, Bakker E, Buys CH, van Ommen GJ, van Essen AJ, den Dunnen JT.
    Hum Mutat; 2004 Jan; 23(1):57-66. PubMed ID: 14695533
    [Abstract] [Full Text] [Related]

  • 8. Duplications in the DMD gene.
    White SJ, Aartsma-Rus A, Flanigan KM, Weiss RB, Kneppers AL, Lalic T, Janson AA, Ginjaar HB, Breuning MH, den Dunnen JT.
    Hum Mutat; 2006 Sep; 27(9):938-45. PubMed ID: 16917894
    [Abstract] [Full Text] [Related]

  • 9. [Detection of genomic duplications and deletions of the DMD gene in affected males and female carriers by using mutiplex ligation-dependent probe amplification].
    Shen BC, Zhang C, Sun XF, Zhang HM, Li SY.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2007 Aug; 24(4):460-3. PubMed ID: 17680544
    [Abstract] [Full Text] [Related]

  • 10. Identification of female carriers for Duchenne and Becker muscular dystrophies using a FISH-based approach.
    Ligon AH, Kashork CD, Richards CS, Shaffer LG.
    Eur J Hum Genet; 2000 Apr; 8(4):293-8. PubMed ID: 10854113
    [Abstract] [Full Text] [Related]

  • 11. Simultaneous mutation scanning for gross deletions, duplications and point mutations in the DMD gene.
    Ashton EJ, Yau SC, Deans ZC, Abbs SJ.
    Eur J Hum Genet; 2008 Jan; 16(1):53-61. PubMed ID: 17726484
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  • 14. Novel mutations of dystrophin gene in DMD patients detected by rapid scanning in biplex exons DHPLC analysis.
    Muscarella LA, Piemontese MR, Barbano R, Fazio A, Guarnieri V, Quattrone A, Zelante L.
    Biomol Eng; 2007 Jun; 24(2):231-6. PubMed ID: 17145200
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  • 15. Microarray-based mutation detection in the dystrophin gene.
    Hegde MR, Chin EL, Mulle JG, Okou DT, Warren ST, Zwick ME.
    Hum Mutat; 2008 Sep; 29(9):1091-9. PubMed ID: 18663755
    [Abstract] [Full Text] [Related]

  • 16. Deletion mutations in the dystrophin gene of Saudi patients with Duchenne and Becker muscular dystrophy.
    Al-Jumah M, Majumdar R, Al-Rajeh S, Chaves-Carballo E, Salih MM, Awada A, Al-Shahwan S, Al-Uthaim S.
    Saudi Med J; 2002 Dec; 23(12):1478-82. PubMed ID: 12518196
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  • 19. [Comparison and analysis of the molecular character of breakpoints in introns of deletion hotspots of dystrophin gene].
    Sheng WL, Chen JY, Pan SY, Zhang C, Liu ZL.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2003 Oct; 20(5):376-80. PubMed ID: 14556187
    [Abstract] [Full Text] [Related]

  • 20. Use of multiplex ligation-dependent probe amplification (MLPA) for Duchenne muscular dystrophy (DMD) gene mutation analysis.
    Murugan S, Chandramohan A, Lakshmi BR.
    Indian J Med Res; 2010 Sep; 132():303-11. PubMed ID: 20847377
    [Abstract] [Full Text] [Related]

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