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  • Aartsma-Rus A, Janson AA, van Ommen GJ, van Deutekom JC. 2007. Antisense-induced exon skipping for duplications in Duchenne muscular dystrophy. BMC Med Genet 8:43.
  • Adachi K, Takeshima Y, Wada H, Yagi M, Nakamura H, Matsuo M. 2003. Heterogous dystrophin mRNA produced by a novel splice acceptor site mutation in intermediate dystrophinopathy. Pediatr Res 53:125131.
  • Bennett RR, den Dunnen J, O'Brien KF, Darras BT, Kunkel LM. 2001. Detection of mutations in the dystrophin gene via automated DHPLC screening and direct sequencing. BMC Genet 2:17.
  • Buzin CH, Wen CY, Nguyen VQ, Nozari G, Mengos A, Li X, Chen JS, Liu Q, Gatti RA, Fujimura FK, Sommer SS. 2000. Scanning by DOVAM-S detects all unique sequence changes in blinded analyses: evidence that the scanning conditions are generic. Biotechniques 28:746750, 752–753.
  • Buzin CH, Feng J, Yan J, Scaringe W, Liu Q, den Dunnen J, Mendell JR, Sommer SS. 2005. Mutation rates in the dystrophin gene: a hotspot of mutation at a CpG dinucleotide. Hum Mutat 25:177188.
  • Chaturvedi LS, Mukherjee M, Srivastava S, Mittal RD, Mittal B. 2001. Point mutation and polymorphism in Duchenne/Becker muscular dystrophy (D/BMD) patients. Exp Mol Med 33:251256.
  • Cheung SW, Shaw CA, Scott DA, Patel A, Sahoo T, Bacino CA, Pursley A, Li J, Erickson R, Gropman AL, Miller DT, Seashore MR, Summers AM, Stankiewicz P, Chinault AC, Lupski JR, Beaudet AL, Sutton VR. 2007. Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics. Am J Med Genet 143A:16791686.
  • Dhami P, Coffey AJ, Abbs S, Vermeesch JR, Dumanski JP, Woodward KJ, Andrews RM, Langford C, Vetrie D. 2005. Exon array CGH: detection of copy-number changes at the resolution of individual exons in the human genome. Am J Hum Genet 76:750762.
  • Fajkusova L, Lukas Z, Tvrdikova M, Kuhrova V, Hajek J, Fajkus J. 2001. Novel dystrophin mutations revealed by analysis of dystrophin mRNA: alternative splicing suppresses the phenotypic effect of a nonsense mutation. Neuromuscul Disord 11:133138.
  • Ferlini A, Muntoni F. 1998. The 5′ region of intron 11 of the dystrophin gene contains target sequences for mobile elements and three overlapping ORFs. Biochem Biophys Res Commun 242:401406.
  • Flanigan KM, von Niederhausern A, Dunn DM, Alder J, Mendell JR, Weiss RB. 2003. Rapid direct sequence analysis of the dystrophin gene. Am J Hum Genet 72:931939.
  • Gatta V, Scarciolla O, Gaspari AR, Palka C, De Angelis MV, Di Muzio A, Guanciali-Franchi P, Calabrese G, Uncini A, Stuppia L. 2005. Identification of deletions and duplications of the DMD gene in affected males and carrier females by multiple ligation probe amplification (MLPA). Hum Genet 117:9298.
  • Gualandi F, Rimessi P, Cardazzo B, Toffolatti L, Dunckley MG, Calzolari E, Patarnello T, Muntoni F, Ferlini A. 2003. Genomic definition of a pure intronic dystrophin deletion responsible for an XLDC splicing mutation: in vitro mimicking and antisense modulation of the splicing abnormality. Gene 311:2533.
  • Gualandi F, Rimessi P, Trabanelli C, Spitali P, Neri M, Patarnello T, Angelini C, Yau SC, Abbs S, Muntoni F, Calzolari E, Ferlini A. 2006. Intronic breakpoint definition and transcription analysis in DMD/BMD patients with deletion/duplication at the 5′ mutation hot spot of the dystrophin gene. Gene 370:2633.
  • Gunn SR, Robetorye RS, Mohammed MS. 2007. Comparative genomic hybridization arrays in clinical pathology: progress and challenges. Mol Diagn Ther 11:7377.
  • Hamed SA. 2006. Drug evaluation: PTC-124—a potential treatment of cystic fibrosis and Duchenne muscular dystrophy. IDrugs 9:783789.
  • Hamed SA, Hoffman EP. 2006. Automated sequence screening of the entire dystrophin cDNA in Duchenne dystrophy: point mutation detection. Am J Med Genet B Neuropsychiatr Genet 141:4450.
  • 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. 2004. DGGE-based whole-gene mutation scanning of the dystrophin gene in Duchenne and Becker muscular dystrophy patients. Hum Mutat 23:5766.
  • Hupe P, Stransky N, Thiery JP, Radvanyi F, Barillot E. 2004. Analysis of array CGH data: from signal ratio to gain and loss of DNA regions. Bioinformatics 20:34133422.
  • Janssen B, Hartmann C, Scholz V, Jauch A, Zschocke J. 2005. MLPA analysis for the detection of deletions, duplications and complex rearrangements in the dystrophin gene: potential and pitfalls. Neurogenetics 6:2935.
  • Koenig M, Hoffman EP, Bertelson CJ, Monaco AP, Feener C, Kunkel LM. 1987. Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell 50:509517.
  • Kunkel LM, Monaco AP, Bertelson CJ, Colletti CA. 1986. Molecular genetics of Duchenne muscular dystrophy. Cold Spring Harb Symp Quant Biol 51(Pt 1):349351.
  • Liu Q, Feng J, Buzin C, Wen C, Nozari G, Mengos A, Nguyen V, Liu J, Crawford L, Fujimura FK, Sommer SS. 1999. Detection of virtually all mutations-SSCP (DOVAM-S): a rapid method for mutation scanning with virtually 100% sensitivity. Biotechniques 26:932, 936–938, 940–942.
  • Mehler MF. 2000. Brain dystrophin, neurogenetics and mental retardation. Brain Res Brain Res Rev 32:277307.
  • Mendell JR, Buzin CH, Feng J, Yan J, Serrano C, Sangani DS, Wall C, Prior TW, Sommer SS. 2001. Diagnosis of Duchenne dystrophy by enhanced detection of small mutations. Neurology 57:645650.
  • Prior TW, Bridgeman SJ. 2005. Experience and strategy for the molecular testing of Duchenne muscular dystrophy. J Mol Diagn 7:317326.
  • Schwartz M, Duno M. 2004. Improved molecular diagnosis of dystrophin gene mutations using the multiplex ligation-dependent probe amplification method. Genet Test 8:361367.
  • Shaffer LG, Bejjani BA. 2006. Medical applications of array CGH and the transformation of clinical cytogenetics. Cytogenet Genome Res 115:303309.
  • Stockley TL, Akber S, Bulgin N, Ray PN. 2006. Strategy for comprehensive molecular testing for Duchenne and Becker muscular dystrophies. Genet Test 10:229243.
  • Tuffery-Giraud S, Chambert S, Demaille J, Claustres M. 1999. Point mutations in the dystrophin gene: evidence for frequent use of cryptic splice sites as a result of splicing defects. Hum Mutat 14:359368.
  • van Essen AJ, Mulder IM, van der Vlies P, van der Hout AH, Buys CH, Hofstra RM, den Dunnen JT. 2003. Detection of point mutation in dystrophin gene reveals somatic and germline mosaicism in the mother of a patient with Duchenne muscular dystrophy. Am J Med Genet A 118A:296298.
  • Welch EM, Barton ER, Zhuo J, Tomizawa Y, Friesen WJ, Trifillis P, Paushkin S, Patel M, Trotta CR, Hwang S, Wilde RG, Karp G, Takasugi J, Chen G, Jones S, Ren H, Moon YC, Corson D, Turpoff AA, Campbell JA, Conn MM, Khan A, Almstead NG, Hedrick J, Mollin A, Risher N, Weetall M, Yeh S, Branstrom AA, Colacino JM, Babiak J, Ju WD, Hirawat S, Northcutt VJ, Miller LL, Spatrick P, He F, Kawana M, Feng H, Jacobson A, Peltz SW, Sweeney HL. 2007. PTC124 targets genetic disorders caused by nonsense mutations. Nature 447:8791.
  • White SJ, den Dunnen JT. 2006. Copy number variation in the genome; the human DMD gene as an example. Cytogenet Genome Res 115:240246.
  • White SJ, Aartsma-Rus A, Flanigan KM, Weiss RB, Kneppers AL, Lalic T, Janson AA, Ginjaar HB, Breuning MH, den Dunnen JT. 2006. Duplications in the DMD gene. Hum Mutat 27:938945.
  • Wilton SD, Fletcher S. 2006. Redirecting splicing to address dystrophin mutations: molecular by-pass surgery. Prog Mol Subcell Biol 44:161197.