| 1 | CD40, DMD
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| Association Study of Exon Variants in the NF-κB and TGFβ Pathways Identifies CD40 as a Modifier of Duchenne Muscular Dystrophy.
|
| Bello L, Flanigan KM, Weiss RB; United Dystrophinopathy Project.
|
| Am J Hum Genet 99(5):1163-1171. doi: 10.1016/j.ajhg.2016.08.023.
2016
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| 2 | DMD, JAG1
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| Jagged 1 Rescues the Duchenne Muscular Dystrophy Phenotype.
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| Vieira NM, Elvers I, Alexander MS, Moreira YB, Eran A, Gomes JP, Marshall JL, Karlsson EK, Verjovski-Almeida S, Lindblad-Toh K, Kunkel LM, Zatz M.
|
| Cell 163(5):1204-1213. doi: 10.1016/j.cell.2015.10.049. Epub 2015 Nov 12.
2015
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| 3 | DMD, FUBP1
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| FUBP1: a new protagonist in splicing regulation of the DMD gene.
|
| Miro J, Laaref AM, Rofidal V, Lagrafeuille R, Hem S, Thorel D, Méchin D, Mamchaoui K, Mouly V, Claustres M, Tuffery-Giraud S
|
| Nucleic Acids Res. Feb 27;43(4):2378-89. doi: 10.1093/nar/gkv086. Epub 2015 Feb 6. 2015
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| 4 | DMD, UTRN
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| Microtubule binding distinguishes dystrophin from utrophin.
|
| Belanto JJ, Mader TL, Eckhoff MD, Strandjord DM, Banks GB, Gardner MK, Lowe DA, Ervasti JM.
|
| Proc Natl Acad Sci U S A 111(15):5723-8. doi: 10.1073/pnas.1323842111. Epub 2014 Mar 31.
2014
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| 5 | DMD
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| Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice.
|
| Wein N, Vulin A, Falzarano MS, Szigyarto CA, Maiti B, Findlay A, Heller KN, Uhlén M, Bakthavachalu B, Messina S, Vita G, Passarelli C, Gualandi F, Wilton SD, Rodino-Klapac LR, Yang L, Dunn DM, Schoenberg DR, Weiss RB, Howard MT, Ferlini A, Flanigan KM.
|
| Nat Med 20(9):992-1000. doi: 10.1038/nm.3628. Epub 2014 Aug 10.
2014
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| 6 | BMD, DMD
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| A novel dystrophin deletion mutation in a becker muscular dystrophy patient with early-onset dilated cardiomyopathy.
|
| Guo X, Dai Y, Cui L, Fang Q.
|
| Can J Cardiol 30(8):956.e1-3. doi: 10.1016/j.cjca.2014.05.002. Epub 2014 May 6.
2014
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| 7 | DMD
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| Dystrophin is a tumor suppressor in human cancers with myogenic programs.
|
| Wang Y, Marino-Enriquez A, Bennett RR, Zhu M, Shen Y, Eilers G, Lee JC, Henze J, Fletcher BS, Gu Z, Fox EA, Antonescu CR, Fletcher CD, Guo X, Raut CP, Demetri GD, van de Rijn M, Ordog T, Kunkel LM, Fletcher JA.
|
| Nat Genet 46(6):601-6. doi: 10.1038/ng.2974. Epub 2014 May 4.
2014
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| 8 | DMD
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| Altered acetylcholine release in the hippocampus of dystrophin-deficient mice.
|
| Parames SF, Coletta-Yudice ED, Nogueira FM, Nering de Sousa MB, Hayashi MA, Lima-Landman MT, Lapa AJ, Souccar C.
|
| Neuroscience 269:173-83. doi: 10.1016/j.neuroscience.2014.03.050. Epub 2014 Apr 3.
2014
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| 9 | DMD
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| The ZZ domain of dystrophin in DMD: making sense of missense mutations.
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| Vulin A, Wein N, Strandjord DM, Johnson EK, Findlay AR, Maiti B, Howard MT, Kaminoh YJ, Taylor LE, Simmons TR, Ray WC, Montanaro F, Ervasti JM, Flanigan KM.
|
| Hum Mutat 35(2):257-64. doi: 10.1002/humu.22479. Epub 2013 Dec 2.
2014
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| 10 | DMD, UTRN
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| Low dystrophin levels increase survival and improve muscle pathology and function in dystrophin/utrophin double-knockout mice.
|
| van Putten M, Hulsker M, Young C, Nadarajah VD, Heemskerk H, van der Weerd L, 't Hoen PA, van Ommen GJ, Aartsma-Rus AM.
|
| FASEB J 27(6):2484-95. doi: 10.1096/fj.12-224170. Epub 2013 Mar 4.
2013
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| 11 | DMD, UTRN
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| UtroUp is a novel six zinc finger artificial transcription factor that recognises 18 base pairs of the utrophin promoter and efficiently drives utrophin upregulation.
|
| Onori A, Pisani C, Strimpakos G, Monaco L, Mattei E, Passananti C, Corbi N.
|
| BMC Mol Biol 14:3. doi: 10.1186/1471-2199-14-3.
2013
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| 12 | DMD
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| Exon skipping and gene transfer restore dystrophin expression in human induced pluripotent stem cells-cardiomyocytes harboring DMD mutations.
|
| Dick E, Kalra S, Anderson D, George V, Ritso M, Laval SH, Barresi R, Aartsma-Rus A, Lochmüller H, Denning C.
|
| Stem Cells Dev 22(20):2714-24. doi: 10.1089/scd.2013.0135. Epub 2013 Jul 5.
2013
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| 13 | DMD
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| Dystrophin deficiency leads to disturbance of LAMP1-vesicle-associated protein secretion.
|
| Duguez S, Duddy W, Johnston H, Lainé J, Le Bihan MC, Brown KJ, Bigot A, Hathout Y, Butler-Browne G, Partridge T.
|
| Cell Mol Life Sci 70(12):2159-74. doi: 10.1007/s00018-012-1248-2. Epub 2013 Jan 24.
2013
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| 14 | DMD, SSPN, UTRN
|
| Dystrophin and utrophin expression require sarcospan: loss of α7 integrin exacerbates a newly discovered muscle phenotype in sarcospan-null mice.
|
| Marshall JL, Chou E, Oh J, Kwok A, Burkin DJ, Crosbie-Watson RH.
|
| Hum Mol Genet 21(20):4378-93. Epub 2012 Jul 13.
2012
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| 15 | DMD
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| Dp71 gene disruption alters the composition of the dystrophin-associated protein complex and neuronal nitric oxide synthase expression in the hypothalamic supraoptic and paraventricular nuclei.
|
| Benabdesselam R, Dorbani-Mamine L, Benmessaoud-Mesbah O, Rendon A, Mhaouty-Kodja S, Hardin-Pouzet H.
|
| J Endocrinol 213(3):239-49. doi: 10.1530/JOE-12-0066. Epub 2012 Apr 5.
2012
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| 16 | DMD, UTRN
|
| Comparison of skeletal muscle pathology and motor function of dystrophin and utrophin deficient mouse strains.
|
| van Putten M, Kumar D, Hulsker M, Hoogaars WM, Plomp JJ, van Opstal A, van Iterson M, Admiraal P, van Ommen GJ, 't Hoen PA, Aartsma-Rus A.
|
| Neuromuscul Disord 22(5):406-17. doi: 10.1016/j.nmd.2011.10.011. Epub 2012 Jan 27.
2012
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| 17 | DMD
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| Defective T-lymphocyte migration to muscles in dystrophin-deficient mice.
|
| Cascabulho CM, Bani Corrêa C, Cotta-de-Almeida V, Henriques-Pons A.
|
| Am J Pathol 181(2):593-604. doi: 10.1016/j.ajpath.2012.04.023. Epub 2012 Jun 22.
2012
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| 18 | DMD, UTRN
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| Thermodynamic stability, unfolding kinetics, and aggregation of the N-terminal actin-binding domains of utrophin and dystrophin.
|
| Singh SM, Molas JF, Kongari N, Bandi S, Armstrong GS, Winder SJ, Mallela KM.
|
| Proteins 80(5):1377-92. doi: 10.1002/prot.24033. Epub 2012 Feb 17.
2012
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| 19 | BMD, DMD
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| Novel mutation in spectrin-like repeat 1 of dystrophin central domain causes protein misfolding and mild Becker muscular dystrophy.
|
| Acsadi G, Moore SA, Chéron A, Delalande O, Bennett L, Kupsky W, El-Baba M, Le Rumeur E, Hubert JF.
|
| J Biol Chem 287(22):18153-62. doi: 10.1074/jbc.M111.284521. Epub 2012 Mar 27.
2012
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| 20 | DMD, WNT7A
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| Wnt7a treatment ameliorates muscular dystrophy.
|
| von Maltzahn J, Renaud JM, Parise G, Rudnicki MA.
|
| Proc Natl Acad Sci U S A 109(50):20614-9. doi: 10.1073/pnas.1215765109. Epub 2012 Nov 26.
2012
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| 21 | DMD
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| 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 21(3):178-82. Epub 2010 Dec 4.
2011
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| 22 | DMD
|
| Duchenne muscular dystrophy--what causes the increased membrane permeability in skeletal muscle?
|
| Allen DG, Whitehead NP.
|
| Int J Biochem Cell Biol 43(3):290-4. Epub 2010 Nov 21. Review.
2011
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| 23 | DMD
|
| Therapeutic approaches to muscular dystrophy.
|
| Goyenvalle A, Seto JT, Davies KE, Chamberlain J.
|
| Hum Mol Genet 20(R1):R69-78. Epub 2011 Mar 24. Review.
2011
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| 24 | ANK2, DCTN4, DMD
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| Ankyrin-B interactions with spectrin and dynactin-4 are required for dystrophin-based protection of skeletal muscle from exercise injury.
|
| Ayalon G, Hostettler JD, Hoffman J, Kizhatil K, Davis JQ, Bennett V.
|
| J Biol Chem 286(9):7370-8. Epub 2010 Dec 25.
2011
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| 25 | DMD
|
| Missense mutations in dystrophin that trigger muscular dystrophy decrease protein stability and lead to cross-beta aggregates.
|
| Singh SM, Kongari N, Cabello-Villegas J, Mallela KM.
|
| Proc Natl Acad Sci U S A 107(34):15069-74. Epub 2010 Aug 9.PMID: 20696926 2010
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| 26 | DMD
|
| Prevention of muscle fibrosis and myonecrosis in mdx mice by suramin, a TGF-β1 blocker.
|
| Taniguti AP, Pertille A, Matsumura CY, Neto HS, Marques MJ.
|
| Muscle Nerve uscle Nerve. 2010 Nov 24. [Epub ahead of print]PMID: 21108244 2010
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| 27 | DMD, UTRN
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| Dystrophins, utrophins, and associated scaffolding complexes: role in mammalian brain and implications for therapeutic strategies.
|
| Perronnet C, Vaillend C.
|
| J Biomed Biotechnol 2010:849426. Epub 2010 Jun 17. Review.PMID: 20625423 2010
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| 28 | DMD
|
| Exon exchange approach to repair Duchenne dystrophin transcripts.
|
| Lorain S, Peccate C, Le Hir M, Garcia L.
|
| PLoS One 5(5):e10894.PMID: 20531943 2010
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| 29 | DMD
|
| Sarcolemmal nNOS anchoring reveals a qualitative difference between dystrophin and utrophin.
|
| Li D, Bareja A, Judge L, Yue Y, Lai Y, Fairclough R, Davies KE, Chamberlain JS, Duan D.
|
| J Cell Sci 123(Pt 12):2008-13. Epub 2010 May 18.PMID: 20483958 2010
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| 30 | DMD
|
| Disease-causing missense mutations in actin binding domain 1 of dystrophin induce thermodynamic instability and protein aggregation.
|
| Henderson DM, Lee A, Ervasti JM.
|
| Proc Natl Acad Sci U S A 107(21):9632-7. Epub 2010 May 10.PMID: 20457930 2010
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| 31 | DMD
|
| Dystrophin gene mutation location and the risk of cognitive impairment in Duchenne muscular dystrophy.
|
| Taylor PJ, Betts GA, Maroulis S, Gilissen C, Pedersen RL, Mowat DR, Johnston HM, Buckley MF.
|
| PLoS One 5(1):e8803.PMID: 20098710 2010
|
| 32 | DMD
|
| Short telomeres and stem cell exhaustion model Duchenne muscular dystrophy in mdx/mTR mice.
|
| Sacco A, Mourkioti F, Tran R, Choi J, Llewellyn M, Kraft P, Shkreli M, Delp S, Pomerantz JH, Artandi SE, Blau HM.
|
| Cell 143(7):1059-71. Epub 2010 Dec 9.
2010
|
| 33 | DMD
|
| A Two-amino Acid Mutation Encountered in Duchenne Muscular Dystrophy Decreases Stability of the Rod Domain 23 (R23) Spectrin-like Repeat of Dystrophin.
|
| Legardinier S, Legrand B, Raguénès-Nicol C, Bondon A, Hardy S, Tascon C, Le Rumeur E, Hubert JF.
|
| J Biol Chem 284(13):8822-32. Epub 2009 Jan 20.
2009
|
| 34 | DMD, UTRN
|
| Dystrophin and utrophin have distinct effects on the structural dynamics of actin.
|
| Prochniewicz E, Henderson D, Ervasti JM, Thomas DD.
|
| Proc Natl Acad Sci U S A 106(19):7822-7. Epub 2009 Apr 30.
2009
|
| 35 | BMD, DMD
|
| Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression.
|
| Daoud F, Angeard N, Demerre B, Martie I, Benyaou R, Leturcq F, Cossée M, Deburgrave N, Saillour Y, Tuffery S, Urtizberea A, Toutain A, Echenne B, Frischman M, Mayer M, Desguerre I, Estournet B, Réveillère C, Penisson-Besnier, Cuisset JM, Kaplan JC, Héron D, Rivier F, Chelly J.
|
| Hum Mol Genet 18(20):3779-94. Epub 2009 Jul 14.PMID: 19602481 2009
|
| 36 | BMD, DMD
|
| Recurrence risk due to germ line mosaicism: Duchenne and Becker muscular dystrophy.
|
| Helderman-van den Enden AT, de Jong R, den Dunnen JT, Houwing-Duistermaat JJ, Kneppers AL, Ginjaar HB, Breuning MH, Bakker E.
|
| Clin Genet 75(5):465-72.
2009
|
| 37 | DMD, MMP9
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| Matrix metalloproteinase-9 inhibition ameliorates pathogenesis and improves skeletal muscle regeneration in muscular dystrophy.
|
| Li H, Mittal A, Makonchuk DY, Bhatnagar S, Kumar A.
|
| Hum Mol Genet 18(14):2584-98. Epub 2009 Apr 28.
2009
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| 38 | DMD
|
| Neuronal differentiation modulates the dystrophin Dp71d binding to the nuclear matrix.
|
| Rodríguez-Muñoz R, Villarreal-Silva M, González-Ramírez R, García-Sierra F, Mondragón M, Mondragón R, Cerna J, Cisneros B.
|
| Biochem Biophys Res Commun 375(3):303-7. Epub 2008 Aug 5. 2008
|
| 39 | ANK2, ANK3, DAG1, DCTN4, DMD
|
| An ankyrin-based mechanism for functional organization of dystrophin and dystroglycan.
|
| Ayalon G, Davis JQ, Scotland PB, Bennett V.
|
| Cell 135(7):1189-200. 2008
|
| 40 | DMD
|
| Sub-domains of the dystrophin rod domain display contrasting lipid-binding and stability properties.
|
| Legardinier S, Hubert JF, Le Bihan O, Tascon C, Rocher C, Raguénès-Nicol C, Bondon A, Hardy S, Le Rumeur E.
|
| Biochim Biophys Acta 1784(4):672-82. Epub 2008 Jan 11.PMID: 18261477 2008
|
| 41 | CAV3, DMD, TRPC1
|
| TRPC1 binds to caveolin-3 and is regulated by Src kinase - role in Duchenne muscular dystrophy.
|
| Gervásio OL, Whitehead NP, Yeung EW, Phillips WD, Allen DG.
|
| J Cell Sci 121(Pt 13):2246-55. Epub 2008 Jun 10.PMID: 1854463 2008
|
| 42 | DMD
|
| Red-green color vision impairment in duchenne muscular dystrophy.
|
| Costa MF, Oliveira AG, Feitosa-Santana C, Zatz M, Ventura DF.
|
| Am J Hum Genet 80(6):1064-75. Epub 2007 Apr 13. 2007
|
| 43 | DMD, FRAXC, IL1RAPL1
|
| DMD and IL1RAPL1: two large adjacent genes localized within a common fragile site (FRAXC) have reduced expression in cultured brain tumors.
|
| McAvoy S, Ganapathiraju S, Perez DS, James CD, Smith DI.
|
| Cytogenet Genome Res 119(3-4):196-203. Epub 2008 Feb 1.PMID: 18253029 2007
|
| 44 | DMD
|
| An unusual extended DNA loop attachment region is located in the human dystrophin gene.
|
| Iarovaia OV, Borounova V, Vassetzky YS, Razin SV.
|
| J Cell Physiol 209(2):515-21. 2006
|
| 45 | DMD
|
| 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 27(9):938-45. 2006
|
| 46 | DMD
|
| A region in the dystrophin gene major hot spot harbors a cluster of deletion breakpoints and generates double-strand breaks in yeast.
|
| Sironi M, Pozzoli U, Comi GP, Riva S, Bordoni A, Bresolin N, Nag DK.
|
| FASEB J 20(11):1910-2. Epub 2006 Aug 4. 2006
|
| 47 | BMP4, DMD
|
| Gene expression profiling highlights defective myogenesis in DMD patients and a possible role for bone morphogenetic protein 4.
|
| Sterrenburg E, van der Wees CG, White SJ, Turk R, de Menezes RX, van Ommen GJ, den Dunnen JT, 't Hoen PA.
|
| Neurobiol Dis 23(1):228-36. Epub 2006 May 6. 2006
|
| 48 | DMD, SYNM, UTRN
|
| Interactions of intermediate filament protein synemin with dystrophin and utrophin.
|
| Bhosle RC, Michele DE, Campbell KP, Li Z, Robson RM.
|
| Biochem Biophys Res Commun 346(3):768-77. Epub 2006 Jun 9.
2006
|
| 49 | DMD
|
| Dystrophin Dp71 expression is down-regulated during myogenesis: role of Sp1 and Sp3 on the Dp71 promoter activity.
|
| de Leon MB, Montanez C, Gomez P, Morales-Lazaro SL, Tapia-Ramirez V, Valadez-Graham V, Recillas-Targa F, Yaffe D, Nudel U, Cisneros B.
|
| J Biol Chem 280(7):5290-9. Epub 2004 Nov 18. 2005
|
| 50 | DMD, CSNK1A1, CBFB, RAP2B
|
| Identification of transcripts from a subtraction library which might be responsible for the mild phenotype in an intrafamilially variable course of Duchenne muscular dystrophy.
|
| Sifringer M, Uhlenberg B, Lammel S, Hanke R, Neumann B, Von Moers A, Koch I, Speer A.
|
| Hum Genet 114(2):149-56. Epub 2003 Nov 05. 2004
|
| 51 | DMD, UTRN
|
| ZZ domain is essentially required for the physiological binding of dystrophin and utrophin to beta-dystroglycan.
|
| Ishikawa-Sakurai M, Yoshida M, Imamura M, Davies KE, Ozawa E.
|
| Hum Mol Genet 13(7):693-702. Epub 2004 Feb 12. 2004
|
| 52 | DMD
|
| Rescue of dystrophic muscle through U7 snRNA-mediated exon skipping.
|
| Goyenvalle A, Vulin A, Fougerousse F, Leturcq F, Kaplan JC, Garcia L, Danos O.
|
| Science 306(5702):1796-9. Epub 2004 Dec 3. 2004
|
| 53 | DMD
|
| Two alternative exons can result from activation of the cryptic splice acceptor site deep within intron 2 of the dystrophin gene in a patient with as yet asymptomatic dystrophinopathy
|
| Yagi M, Takeshima Y, Wada H, Nakamura H, Matsuo M.
|
| Hum Genet 112(2):164-70. 2003
|
| 54 | DMD, IL1RAPL1
|
| A complex deletion-inversion-deletion event results in a chimeric IL1RAPL1-dystrophin transcript and a contiguous gene deletion syndrome
|
| Wheway JM, Yau SC, Nihalani V, Ellis D, Irving M, Splitt M, Roberts RG.
|
| J Med Genet 40(2):127-31. No abstract available. 2003
|
| 55 | DMD
|
| Dystrophin-associated protein complex and heart failure.
|
| Ganote CE, Armstrong SC.
|
| Lancet 359(9310):905-6. No abstract available. 2002
|
| 56 | DMD
|
| Molecular remodelling of dystrophin in patients with end-stage cardiomyopathies and reversal in patients on assistance-device therapy.
|
| Vatta M, Stetson SJ, Perez-Verdia A, Entman ML, Noon GP, Torre-Amione G, Bowles NE, Towbin JA.
|
| Lancet 359(9310):936-41. 2002
|
| 57 | DMD
|
| Dystrophin deficiency markedly increases enterovirus-induced cardiomyopathy: a genetic predisposition to viral heart disease.
|
| Xiong D, Lee GH, Badorff C, Dorner A, Lee S, Wolf P, Knowlton KU.
|
| Nat Med 8(8):872-7. 2002
|
| 58 | DMD
|
| A Novel Muscle-Specific Enhancer Identified within the Deletion Overlap Region of Two XLDC Patients Lacking Muscle Exon 1 of the Human Dystrophin Gene.
|
| Bastianutto C, De Visser M, Muntoni F, Klamut HJ, Patarnello T.
|
| Genomics 80(6):614-20. 2002
|
| 59 | UTRN, DMD
|
| Comparative analysis of the human dystrophin and utrophin gene structures.
|
| Pozzoli U, Sironi M, Cagliani R, Comi GP, Bardoni A, Bresolin N.
|
| Genetics 160(2):793-8. 2002
|
| 60 | AQP4, DMD, BMD
|
| Altered aquaporin-4 expression in human muscular dystrophies: a common feature?
|
| Frigeri A, Nicchia GP, Repetto S, Bado M, Minetti C, Svelto M.
|
| FASEB J 16(9):1120-2. Epub 2002 May 08. 2002
|
| 61 | DMD, HSAN3
|
| Familial dysautonomia is caused by mutations of the IKAP gene.
|
| Anderson SL, Coli R, Daly IW, Kichula EA, Rork MJ, Volpi SA, Ekstein J, Rubin BY.
|
| Am J Hum Genet 68(3):753-8. 2001
|
| 62 | DMD
|
| Dystrophin muscle enhancer 1 is implicated in the activation of non-muscle isoforms in the skeletal muscle of patients with X-linked dilated cardiomyopathy.
|
| Bastianutto C, Bestard JA, Lahnakoski K, Broere D, De Visser M, Zaccolo M, Pozzan T, Ferlini A, Muntoni F, Patarnello T, Klamut HJ.
|
| Hum Mol Genet 10(23):2627-35. 2001
|
| 63 | DMD
|
| Loss of Dp140 dystrophin isoform and intellectual impairment in Duchenne dystrophy.
|
| Felisari G, Martinelli Boneschi F, Bardoni A, Sironi M, Comi GP, Robotti M, Turconi AC, Lai M, Corrao G, Bresolin N.
|
| Neurology 55(4):559-64. 2000
|
| 64 | DMD
|
| Mitochondrial expression of a short dystrophin-like product with molecular weight of 71 kDa.
|
| Chavez O, Harricane MC, Aleman V, Dorbani L, Larroque C, Mornet D, Rendon A, Martinez-Rojas D.
|
| Biochem Biophys Res Commun 274(2):275-80. 2000
|
| 65 | DMD
|
| Alternative splicing regulates the nuclear or cytoplasmic localization of dystrophin Dp71.
|
| Gonzalez E, Montanez C, Ray PN, Howard PL, Garcia-Sierra F, Mornet D, Cisneros B.
|
| FEBS Lett 482(3):209-14. 2000
|
| 66 | DMD
|
| Severe cognitive impairment in DMD: obvious clinical indication for Dp71 isoform point mutation screening.
|
| Moizard MP, Toutain A, Fournier D, Berret F, Raynaud M, Billard C, Andres C, Moraine C.
|
| Eur J Hum Genet 8(7):552-6. 2000
|
| 67 | DMD
|
| Targeted inactivation of Dp71, the major non-muscle product of the DMD gene : differential activity of the Dp71 promoter during development.
|
| Sarig R, Mezger-Lallemand V, Gitelman I, Davis C, Fuchs O, Yaffe D, Nudel U.
|
| Hum Mol Genet 8 : 1-10. 1999
|
| 68 | DMD, MRX11
|
| A novel deletion of the dystrophin S-promoter region cosegregating with mental retardation.
|
| Chen DH, et al.
|
| Neurology 52(3):638-40. 1999
|
| 69 | DMD
|
| Expression of the 71 kDa dystrophin isoform (Dp71) evaluated by gene targeting.
|
| Lumeng CN, et al.
|
| Brain Res 830(1):174-8. 1999
|
| 70 | DMD
|
| Point mutations in the dystrophin gene: Evidence for frequent use of cryptic splice sites as a result of splicing defects.
|
| Tuffery-Giraud S, et al.
|
| Hum Mutat 14(5):359-368 1999
|
| 71 | BMD, DMD
|
| Mutation analysis of the dystrophin gene in Southern French DMD or BMD families : from Southern blot to protein truncation test.
|
| Tuffery S, et al.
|
| Hum Genet 102 : 334-342. 1998
|
| 72 | DMD, LAMB2, SGCA, SGCB
|
| Abnormalities of dystrophin, the sarcoglycans, and laminin alpha2 in the muscular dystrophies.
|
| Jones KJ, Kim SS, North KN.
|
| J Med Genet 35(5):379-86. 1998
|
| 73 | CMD3B, DMD
|
| Insertional mutation by transposable element, L1, in the DMD gene results in X-linked dilated cardiomyopathy.
|
| Yoshida K, et al.
|
| Hum Mol Genet 7 : 1129-1132. 1998
|
| 74 | DMD
|
| Localization of dystrophin isoform Dp71 to the inner limiting membrane of the retina suggests a unique functional contribution of Dp71 in the retina.
|
| Howard PL, et al.
|
| Hum Mol Genet 7 : 1385-1391. 1998
|
| 75 | CMD3B, DMD
|
| A novel Alu-like element rearranged in the dystrophin gene causes a splicing mutation in a family with X-linked dilated cardiomyopathy.
|
| Ferlini A, et al.
|
| Am J Hum Genet 63 : 436-446. 1998
|
| 76 | CMD3B, DMD
|
| Study on mutations affecting the muscle promoter/first exon of the dystrophin gene in 92 Japanese dilated cardiomyopathy patients.
|
| Shiga N, et al.
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| Am J Med Genet 79 : 226-227. 1998
|
| 77 | DMD
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| Identification of a novel actin binding site within the Dp71 dystrophin isoform.
|
| Howard PL, et al.
|
| FEBS Lett 441(2):337-41. 1998
|
| 78 | DMD, UPDXM
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| Uniparental disomy of the entire X chromosome in a female with Duchenne muscular dystrophy.
|
| Quan F, et al.
|
| Am J Hum Genet 60 : 160-165. 1997
|
| 79 | DMD
|
| The evolution of an intron : analysis of a long, deletion-prone intron in the human dystrophin gene.
|
| McNaughton JC, et al.
|
| Genomics 40 : 294-304. 1997
|
| 80 | DMD
|
| Large majority of single-nucleotide mutations along the dystrophin gene can be explained by more than one mechanism of mutagenesis.
|
| Todorova A, Danieli GA.
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| Hum Mutat 9(6):537-47. 1997
|
| 81 | BMD, DMD
|
| The clinical and molecular genetic approach to Duchenne and Becker muscular dystrophy: an updated protocol.
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| van Essen AJ, Kneppers AL, van der Hout AH, Scheffer H, Ginjaar IB, ten Kate LP, van Ommen GJ, Buys CH, Bakker E.
|
| J Med Genet 34(10):805-12. 1997
|
| 82 | DMD
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| Dp140: alternatively spliced isoforms in brain and kidney.
|
| Lidov HG, Kunkel LM.
|
| Genomics 45(1):132-9. 1997
|
| 83 | DMD
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| Exon-intron organization of the human dystrophin gene.
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| Nobile C, Marchi J, Nigro V, Roberts RG, Danieli GA.
|
| Genomics 45(2):421-4. 1997
|
| 84 | BMD, DMD
|
| Disruption of the splicing enhancer sequence within exon 27 of the dystrophin gene by a nonsense mutation induces partial skipping of the exon and is responsible for Becker muscular dystrophy.
|
| Shiga N, Takeshima Y, Sakamoto H, Inoue K, Yokota Y, Yokoyama M, Matsuo M.
|
| J Clin Invest 100(9):2204-10. 1997
|
| 85 | DMD
|
| Six novel transcripts that remove a huge intron ranging from 250 to 800 kb are produced by alternative splicing of the 5' region of the dystrophin gene in human skeletal muscle.
|
| Surono A, Takeshima Y, Wibawa T, Pramono ZA, Matsuo M.
|
| Biochem Biophys Res Commun 239(3):895-9. 1997
|
| 86 | CMD3B, DMD
|
| A 5' dystrophin duplication mutation causes membrane deficiency of alpha-dystroglycan in a family with X-linked cardiomyopathy.
|
| Bies RD, Maeda M, Roberds SL, Holder E, Bohlmeyer T, Young JB, Campbell KP.
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| J Mol Cell Cardiol 29(12):3175-88. 1997
|
| 87 | CMD3B, DMD
|
| A point mutation in the 5' splice site of the dystrophin gene first intron responsible for X-linked dilated cardiomyopathy.
|
| Milasin J, et al.
|
| Hum Mol Genet 5 : 73-79. 1996
|
| 88 | DMD
|
| Molecular analysis of recombination in a family with Duchenne muscular dystrophy and a large pericentric X chromosome inversion.
|
| Shashi V, et al.
|
| Am J Hum Genet 58 : 1231-1238. 1996
|
| 89 | DMD
|
| Four novel dystrophin point mutations : detection by protein truncation test and transcript analysis in lymphocytes from Duchenne muscular dystrophy patients.
|
| Tuffery S, et al.
|
| Eur J Hum Genet 4 : 143-152. 1996
|
| 90 | BMD, DMD
|
| Nonsense mutations in a Becker muscular dystrophy and an intermediate patient.
|
| Prior TW, et al.
|
| Hum Mutat 7 : 72-75. 1996
|
| 91 | DMD
|
| Identification of a transcriptional enhancer within muscle intron 1 of the human dystrophin gene.
|
| Klamut HJ, et al.
|
| Hum Mol Genet 5 : 1599-1606. 1996
|
| 92 | BMD, DMD
|
| Splicing mutations in DMD/BMD detected by RT-PCR/PTT : detection of a 19AA insertion in the cysteine rich domain of dystrophin compatible with BMD.
|
| Roest PAM, et al.
|
| J Med Genet 33 : 935-939. 1996
|
| 93 | DMD
|
| Two polymorphic dinucleotide repeats in intron 44 of the dystrophin gene.
|
| Kšchling S, et al.
|
| Hum Genet 95 : 475-477. 1995
|
| 94 | DMD
|
| Dp140 : a novel 140 kDa CNS transcript from the dystrophin locus.
|
| Lidov HGW, et al.
|
| Hum Mol Genet 4 : 329-335. 1995
|
| 95 | DMD
|
| Identification of variable length polyadenosine tract at the dystrophin locus.
|
| Tuffery S, et al.
|
| Hum Genet 95 : 590-592. 1995
|
| 96 | DMD, OED
|
| A novel dystrophin isoform is required for normal retinal electrophysiology.
|
| D'Souza VN, et al.
|
| Hum Mol Genet 4 : 837-842. 1995
|
| 97 | CSNB2A, DMD, OED
|
| Duchenne muscular dystrophy : negative electroretinograms and normal dark adaptation. Reappraisal of assignment of X linked incomplete congenital stationary night blindness.
|
| Jensen H, et al.
|
| J Med Genet 32 : 348-351. 1995
|
| 98 | BMD, DMD
|
| Spectrum of small mutations in the dystrophin coding region.
|
| Prior TW, et al.
|
| Am J Hum Genet 57 : 22-33. 1995
|
| 99 | DMD
|
| Identification of a one-basepair deletion in exon 6 of the dystrophin gene.
|
| Kavaslar GN, et al.
|
| Hum Mutat 6 : 85-86. 1995
|
| 100 | DMD
|
| Cloning and characterization of alternatively spliced isoforms of Dp71.
|
| Austin RC, et al.
|
| Hum Mol Genet 4 : 1475-1483. 1995
|
| 101 | DMD
|
| Sequence analysis of the breakpoint regions of an X;5 translocation in a female with Duchenne muscular dystrophy.
|
| Van Bakel I, et al.
|
| Am J Hum Genet 57 : 329-336. 1995
|
| 102 | CMD3B, DMD
|
| A mutation in the dystrophin gene selectively affecting dystrophin expression in the heart.
|
| Muntoni F, et al.
|
| J Clin Invest 96 : 693-699. 1995
|
| 103 | DMD
|
| Genomic organization of the human dystrophin gene across the major deletion hot spot and the 3' region.
|
| Nobile C, et al.
|
| Genomics 28 : 97-100. 1995
|
| 104 | BMD, DMD
|
| Fluorescence in situ hybridisation studies provide evidence for somatic mosaicism in De novo dystrophin gene deletions.
|
| Bunyan DJ, et al.
|
| Hum Genet 95 : 43-45. 1995
|
| 105 | DMD, MTCMH5D
|
| Transcription of the dystrophin gene in normal tissues and in skeletal muscle of a family with X-linked dilated cardiomyopathy.
|
| Muntoni F, et al.
|
| Am J Hum Genet 56 : 151-157. 1995
|
| 106 | DMD
|
| Identification of a point mutation and germinal mosaicism in a Duchenne muscular dystrophy family.
|
| Wilton SD, et al.
|
| Hum Mutat 3 : 133-140. 1994
|
| 107 | DMD
|
| Two dinucleotide repeat polymorphisms at the DMD locus.
|
| King SC, et al.
|
| Hum Mol Genet 3 : 523. 1994
|
| 108 | DMD
|
| A polymorphic STS in intron 44 of the dystrophin gene.
|
| Blonden LAJ, et al.
|
| Hum Genet 93 : 479-480. 1994
|
| 109 | DMD
|
| One base deletion in the cysteine-rich domain of the dystrophin gene in Duchenne muscular dystrophy patients.
|
| Tsukamoto H, et al.
|
| Hum Mol Genet 3 : 995-996. 1994
|
| 110 | DMD
|
| Linkage disequilibria among (CA)n polymorphisms in the human dystrophin gene and their implications in carrier detection and prenatal diagnosis in Duchenne and Becker muscular dystrophies.
|
| Chakraborty R, et al.
|
| Genomics 21 : 567-570. 1994
|
| 111 | SGCA, SNTA1, SNTB1, DMD
|
| Molecular organization at the glycoprotein-complex-binding site of dystrophin.
|
| Suzuki A, et al.
|
| Eur J Biochem 220 : 283-292. 1994
|
| 112 | DMD
|
| Detection of new paternal dystrophin gene mutations in isolated cases of dystrophinopathy in females.
|
| Pegoraro E, et al.
|
| Am J Hum Genet 54 : 989-1003. 1994
|
| 113 | DMD
|
| Identification of a missense mutation, single base deletion and a polymorphism in the dystrophin exon 16.
|
| Prior TW, et al.
|
| Hum Mol Genet 3 : 1173-1174. 1994
|
| 114 | BMD, DMD
|
| Searching for the 1 in 2,400,000 : a review of dystrophin gene point mutations.
|
| Roberts RG, et al.
|
| Hum Mutat 4 : 1-11. 1994
|
| 115 | DMD
|
| Are CpG sites mutation hot spots in the dystrophin gene?
|
| Akalin N, et al.
|
| Hum Mol Genet 3 : 1425-1426. 1994
|
| 116 | DMD
|
| Identification of a novel first exon in the human dystrophin gene and of a new promoter located more than 500 kb upstream of the nearest known promoter.
|
| Nishio H, et al.
|
| J Clin Invest 94 : 1037-1042. 1994
|
| 117 | DMD
|
| A PvuII polymorphism near exon 2 of the dystrophin gene.
|
| Cross GS, et al.
|
| Hum Genet 94 : 454-455. 1994
|
| 118 | BMD, DMD
|
| Clinical-molecular correlation in 104 mild X-linked muscular dystrophy patients : characterization of sub-clinical phenotypes.
|
| Angelini C, et al.
|
| Neuromuscul Disord 4 : 349-358. 1994
|
| 119 | CMD3B, DMD
|
| Mutation of dystrophin gene and cardiomyopathy.
|
| Nigro G, et al.
|
| Neuromuscul Disord 4 : 371-379. 1994
|
| 120 | BMD, DMD
|
| Prevalent cardiac involvement in dystrophin becker type mutation.
|
| Siciliano G, et al.
|
| Neuromuscul Disord 4 : 381-386. 1994
|
| 121 | DMD
|
| Dystrophinopathy presenting as congenital muscular dystrophy.
|
| Kyriakides T, et al.
|
| Neuromuscul Disord 4 : 387-392. 1994
|
| 122 | DMD
|
| A refined restriction map of YAC clones spanning the entire human dystrophin gene.
|
| Nobile C, et al.
|
| Mamm Genome 5 : 566-571. 1994
|
| 123 | DMD, UTRN
|
| The utrophin and dystrophin genes share similarities in genomic structure.
|
| Pearce M, et al.
|
| Hum Mol Genet 2 : 1765-1772. 1993
|
| 124 | DMD
|
| Point mutations at the carboxy terminus of the human dystrophin gene : implications for an association with mental retardation in DMD patients.
|
| Lenk U, et al.
|
| Hum Mol Genet 2 : 1877-1881. 1993
|
| 125 | DMD
|
| Exon skipping and translation in patients with frameshift deletions in the dystrophin gene.
|
| Sherratt TG, et al.
|
| Am J Hum Genet 53 : 1007-1015. 1993
|
| 126 | DMD
|
| Exon structure of the human dystrophin gene.
|
| Roberts RG, et al.
|
| Genomics 16 : 536-538. 1993
|
| 127 | DMD
|
| Insertion of a 5'truncated L1 element into the 3' end of exon 44 of the dystrophin gene resulted in skipping of the exon during splicing in a case of Duchenne muscular dystrophy.
|
| Narita N, et al.
|
| J Clin Invest 91 : 1862-1867. 1993
|
| 128 | DMD
|
| Characterization of translational frame exception patients in Duchenne/Becker muscular dystrophy.
|
| Winnard AV, et al.
|
| Hum Mol Genet 2 : 737-744. 1993
|
| 129 | DMD
|
| Monoclonal antibodies against the muscle-specific N-terminus of dystrophin : characterization of dystrophin in a muscular dystrophy patient with a frameshift deletion of exons 3-7.
|
| Thanh LT, et al.
|
| Am J Hum Genet 53 : 131-139. 1993
|
| 130 | DMD
|
| A missense mutation in the dystrophin gene in a Duchenne muscular dystrophy patient.
|
| Prior TW, et al.
|
| Nat Genet 4 : 357-360. 1993
|
| 131 | DMD
|
| A novel nonsense mutation in the human dystrophin gene.
|
| Saad FA, et al.
|
| Hum Mutat 2 : 314-316. 1993
|
| 132 | DMD
|
| Exon 44 nonsense mutation in two-Duchenne muscular dystrophy brothers detected by heteroduplex analysis.
|
| Prior TW, et al.
|
| Hum Mutat 2 : 192-195. 1993
|
| 133 | DMD, OED
|
| Dystrophin expression in the human retina is required for normal function as defined by electroretinography.
|
| Pillers DAM, et al.
|
| Nat Genet 4 : 82-86. 1993
|
| 134 | DMD
|
| Base substitutions in the human dystrophin gene : detection by using the single-strand conformation polymorphism (SSCP) technique.
|
| Tuffery S, et al.
|
| Hum Mutat 2 : 368-374. 1993
|
| 135 | DMD
|
| Parental origin and germline mosaicism of deletions and duplications of the dystrophin gene : a European study.
|
| van Essen AJ, et al.
|
| Hum Genet 88 : 249-257. 1992
|
| 136 | DMD
|
| A TaqI map of the dystrophin gene useful for deletion and carrier status analysis.
|
| Walker AP, et al.
|
| J Med Genet 29 : 14-19. 1992
|
| 137 | DMD
|
| A yeast artificial chromosome contig containing the complete Duchenne muscular dystrophy gene.
|
| Monaco AP, et al.
|
| Genomics 12 : 465-473. 1992
|
| 138 | DMD
|
| Construction of a 2.6-Mb contig in yeast artificial chromosomes spanning the human dystrophin gene using an STS-based approach.
|
| Coffey AJ, et al.
|
| Genomics 12 : 474-484. 1992
|
| 139 | DMD
|
| Partial deletion of a dystrophin gene leads to exon skipping and to loss of an intra-exon hairpin structure from the predicted mRNA precursor.
|
| Matsuo M, et al.
|
| Biochem Biophys Res Commun 182 : 495-500. 1992
|
| 140 | DMD
|
| Point mutations in the dystrophin gene.
|
| Roberts RG, et al.
|
| Proc Natl Acad Sci U S A 89 : 2331-2335. 1992
|
| 141 | DMD
|
| Deletions, duplications and novel restriction fragment length polymorphism in Duchenne and Becker muscular dystrophies.
|
| Lau YL, et al.
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| Clin Genet 41 : 252-258. 1992
|
| 142 | DMD
|
| Characterization of a 4.8kb transcript from the Duchenne muscular dystrophy locus expressed in Schwannoma cells.
|
| Blake DJ, et al.
|
| Hum Mol Genet 1 : 103-109. 1992
|
| 143 | DMD
|
| Point mutations and polymorphisms in the human dystrophin gene identified in genomic DNA sequences amplified by multiplex PCR.
|
| Kilimann MW, et al.
|
| Hum Genet 89 : 253-258. 1992
|
| 144 | DMD
|
| A 71-kilodalton protein is a major product of the Duchenne muscular dystrophy gene in brain and other nonmuscle tissues.
|
| Lederfein D, et al.
|
| Proc Natl Acad Sci U S A 89 : 5346-5350. 1992
|
| 145 | DMD
|
| A 3' consensus splice mutation in the human dystrophin gene detected by a screening for intra-exonic deletions.
|
| Saad FA, et al.
|
| Hum Mol Genet 1 : 345-346. 1992
|
| 146 | DMD
|
| Screening Duchenne and Becker muscular dystrophy patients for deletions in 30 exons of the dystrophin gene by three-multiplex PCR.
|
| Covone AE, et al.
|
| Am J Hum Genet 51 : 675-677. 1992
|
| 147 | DMD
|
| Expression of four alternative dystrophin transcripts in brain regions regulated by different promoters.
|
| Gorecki DC, et al.
|
| Hum Mol Genet 1 : 505-510. 1992
|
| 148 | DMD
|
| Distal transcript of the dystrophin gene initiated from an alternative first exon and encoding a 75-kDa protein widely distributed in nonmuscle tissues.
|
| Hugnot JP, et al.
|
| Proc Natl Acad Sci U S A 89 : 7506-7510. 1992
|
| 149 | DMD
|
| Two hot spots of recombination in the DMD gene correlate with the deletion prone regions.
|
| Oudet C, et al.
|
| Hum Mol Genet 1 : 599-603. 1992
|
| 150 | DMD
|
| Different mosaicism frequencies for proximal and distal Duchenne muscular dystrophy (DMD) mutations indicate difference in etiology and recurrence risk.
|
| Passos-Bueno MR, et al.
|
| Am J Hum Genet 51 : 1150-1155. 1992
|
| 151 | DMD
|
| Xp21 contiguous gene syndromes : deletion quantitation with bivariate flow karyotyping allows mapping of patient breakpoints.
|
| McCabe ERB, et al.
|
| Am J Hum Genet 51 : 1277-1285. 1992
|
| 152 | DMD
|
| Carrier detection of Duchenne/Becker muscular dystrophy : computer-assisted direct quantitation of gene amplification products.
|
| Ishii K, et al.
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| Brain Dev 14 : 80-83. 1992
|
| 153 | DMD
|
| Optimization of DNA extraction from formalin-fixed tissue and its clinical application in Duchenne muscular dystrophy.
|
| Forsthoefel KF, Papp AC, Snyder PJ, Prior TW.
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| Am J Clin Pathol 98(1):98-104. 1992
|
| 154 | DMD
|
| Normal dystrophin transcripts detected in Duchenne muscular dystrophy patients after myoblast transplantation.
|
| Gussoni E, et al.
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| Nature 356 : 435-438. 1992
|
| 155 | DMD
|
| 242 breakpoints in the 200-kb deletion-prone P20 region of the DMD gene are widely spread.
|
| Blonden LAJ, et al.
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| Genomics 10 : 631-639. 1991
|
| 156 | DMD
|
| Exon skipping during splicing of dystrophin mRNA precursor due to an intraexon deletion in the dystrophin gene of Duchenne muscular dystrophy Kobe.
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| Matsuo M, Masumura T, Nishio H, Nakajima T, Kitoh Y, Takumi T, Koga J, Nakamura H.
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| J Clin Invest 87 : 2127-2131. 1991
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| 157 | DMD
|
| Rapid detection of CA polymorphisms in cloned DNA : application to the 5' region of the dystrophin gene.
|
| Feener CA, Boyce FM, Kunkel LM.
|
| Am J Hum Genet 48 : 621-627. 1991
|
| 158 | DMD
|
| A highly informative CACA repeat polymorphism upstream of the human dystrophin gene (DMD).
|
| Hugnot JP, et al.
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| Nucleic Acids Res 19 : 3159. 1991
|
| 159 | DMD
|
| Nonradioactive assay for new microsatellite polymorphisms at the 5' end of the dystrophin gene, and estimation of intragenic recombination.
|
| Oudet C, et al.
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| Am J Hum Genet 49 : 311-319. 1991
|
| 160 | DMD
|
| Direct detection of dystrophin gene rearrangements by analysis of dystrophin mRNA in peripheral blood lymphocytes.
|
| Roberts RG, et al.
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| Am J Hum Genet 49 : 298-310. 1991
|
| 161 | DMD
|
| DMD locus : some new data.
|
| Evgrafov OV, et al.
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| (HGM11) Cytogenet Cell Genet 58 : 2062-2063. 1991
|
| 162 | DMD
|
| Novel HindIII fragment detected with cDMD 4-5A.
|
| Pastores GM, et al.
|
| (HGM11) Cytogenet Cell Genet 58 : 2080. 1991
|
| 163 | DMD
|
| A MseI polymorphism in exon 48 of the dystrophin gene.
|
| Yau SC, et al.
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| Nucleic Acids Res 19 : 5803. 1991
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| 164 | DMD
|
| Molecular analysis of X-autosome translocations in females with Duchenne muscular dystrophy.
|
| Bodrug SE, et al.
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| EMBO J 10 : 3931-3939. 1991
|
| 165 | DMD
|
| Molecular deletion patterns in families from southern France with Duchenne/Becker muscular dystrophies.
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| Claustres M, et al.
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| Hum Genet 88 : 179-184. 1991
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| 166 | DMD
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| Carrier detection and prenatal diagnosis in Duchenne and Becker muscular dystrophy families, using dinucleotide repeat polymorphisms.
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| Clemens PR, Fenwick RG, Chamberlain JS, Gibbs RA, de Andrade M, Chakraborty R, Caskey CT.
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| Am J Hum Genet 49 : 951-960. 1991
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| 167 | DMD
|
| Point mutation in the human dystrophin gene : identification through Western blot analysis.
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| Bulman DE, et al.
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| Genomics 10 : 457-460. 1991
|
| 168 | DMD
|
| A screening for dystrophin gene deletions in Japanese patients with Duchenne/Becker muscular dystrophy by the multiplex polymerase chain reaction.
|
| Sakuraba H, et al.
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| Brain Dev 13 : 339-342. 1991
|
| 169 | DMD
|
| Dystrophin is transcribed in brain from a distant upstream promoter.
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| Boyce FM, et al.
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| Proc Natl Acad Sci U S A 88 : 1276-1280. 1991
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| 170 | DMD
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| Analysis of a dystrophin gene deletion by amplification of mRNA isolated from DMD myotubes cultured in vitro.
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| Ehrenpreis J, et al.
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| Genomics 10 : 551-557. 1991
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| 171 | AHC, DMD
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| Characterization of a Xp21 microdeletion syndrome in a 2-year-old boy with muscular dystrophy, glycerol kinase deficiency and adrenal hypoplasia congenita.
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| Stuhrmann M, Heilbronner H, Reis A, Wegner RD, Fischer P, Schmidtke J.
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| Hum Genet 86 : 414-415. 1991
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| 172 | DMD
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| A dinucleotide repeat polymorphism at the DMD locus.
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| Powell JF, Fodor FH, Cockburn DJ, Monaco AP, Craig IW.
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| Nucleic Acids Res 19 : 1159. 1991
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| 173 | DMD
|
| Sequences of junction fragments in the deletion-prone region of the dystrophin gene.
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| Love DR, England SB, Speer A, Marsden RF, Bloomfield JF, Roche AL, Cross GS, Mountford RC, Smith TJ, Davies KE.
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| Genomics 10 : 57-67. 1991
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| 174 | DMD
|
| Determination of Duchenne muscular dystrophy carrier status by single strand conformation polymorphism analysis of deleted regions of the dystrophin locus.
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| Richards RI, Friend K.
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| J Med Genet 28 : 856-859. 1991
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| 175 | DMD
|
| An informative polymorphism detectable by polymerase chain reaction at the 3' end of the dystrophin gene.
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| Oudet C, Heilig R, Mandel JL.
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| Hum Genet 84 : 283-285. 1990
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| 176 | DMD
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| A polymorphic CACA repeat in the 3' untranslated region of dystrophin.
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| Beggs AH, Kunkel LM.
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| Nucleic Acids Res 18 : 1931. 1990
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| 177 | DMD
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| Duplicational mutation at the Duchenne muscular dystrophy locus: its frequency, distribution, origin, and phenotype genotype correlation.
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| Hu XY, Ray PN, Murphy EG, Thompson MW, Worton RG.
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| Am J Hum Genet 46 : 682-695. 1990
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| 178 | DMD
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| A MaeIII polymorphism near the dystrophin gene promoter by restriction of amplified DNA.
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| Roberts RG, Bobrow M, Bentley DR.
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| Nucleic Acids Res 18 : 1315. 1990
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| 179 | DMD
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| PvuII RFLPs in the DMD gene detected by a subclone (cDMD1a) of the cDNA.
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| Deng HX, Niikawa N.
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| Nucleic Acids Res 18 : 3107. 1990
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| 180 | DMD
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| RFLPs for Duchenne muscular dystrophy cDNA clones 9 and 10.
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| Liechti-Gallati S, Schneider V, Mullis P, Moser H.
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| Am J Hum Genet 46 : 1090-1094. 1990
|
| 181 | DMD
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| Prenatal identification of a girl with a t(X;4)(p21;q35) translocation: molecular characterisation, paternal origin, and association with muscular dystrophy.
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| Bodrug SE, Roberson JR, Weiss L, Ray PN, Worton RG, Van Dyke DL.
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| J Med Genet 27 : 426-432. 1990
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| 182 | DMD
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| Atypical X-linked muscular dystrophy with mental retardation : analysis of a large deletion at the proximal region of dystrophin gene.
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| Shimmoto M, et al.
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| Brain Dysfunct 3 : 72-79. 1990
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| 183 | DMD
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| Intragenic deletions in 164 boys with Duchenne muscular dystrophy (DMD) studied with dystrophin cDNA.
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| Upadhyaya M, Smith RA, Thomas NS, Norman AM, Harper PS.
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| Clin Genet 37 : 456-462. 1990
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| 184 | DMD
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| Rapid detection of deletions in the Duchenne muscular dystrophy gene by PCR amplification of deletion-prone exon sequences.
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| Hentemann M, Reiss J, Wagner M, Cooper DN.
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| Hum Genet 84 : 228-232. 1990
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| 185 | DMD
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| Determination of carrier status in Duchenne and Becker muscular dystrophies by quantitative polymerase chain reaction and allele-specific oligonucleotides.
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| Prior TW, Papp AC, Snyder PJ, Highsmith WE Jr, Friedman KJ, Perry TR, Silverman LM, Mendell JR.
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| Clin Chem 36 : 2113-2117. 1990
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| 186 | BMD, DMD
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| Direct diagnosis of carriers of Duchenne and Becker muscular dystrophy by amplification of lymphocyte RNA.
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| Roberts RG, Bentley DR, Barby TF, Manners E, Bobrow M.
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| Lancet 336 : 1523-1526. 1990
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| 187 | DMD
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| Accurate assessment of intragenic recombination frequency within the Duchenne muscular dystrophy gene.
|
| Abbs S, Roberts RG, Mathew CG, Bentley DR, Bobrow M.
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| Genomics 7 : 602-606. 1990
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| 188 | DMD
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| 190 | DMD
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| 198 | DMD
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| Germinal mosaicism increases the recurrence risk for new Duchenne muscular dystrophy mutations.
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| 201 | DMD
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| 202 | DMD
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| 204 | DMD
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| 205 | DMD, BMD
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| 206 | DMD
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| 207 | DMD
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| 208 | DMD
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| 210 | DMD
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| 214 | DMD
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| Darras BT, Blattner P, Harper JF, Spiro AJ, Alter S, Francke U.
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| 215 | DMD
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| Science 242 : 755-759. 1988
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| 216 | DMD
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| An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus.
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| Monaco AP, Bertelson CJ, Liechti-Gallati S, Moser H, Kunkel LM.
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| Genomics 2 : 90-95. 1988
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| 217 | DMD
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| Transcription of the dystrophin gene in human muscle and non-muscle tissues.
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| Nature 333 : 858-860. 1988
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| 218 | DMD
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| Davies KE, Smith TJ, Bundey S, Read AP, Flint T, Bell M, Speer A.
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| J Med Genet 25 : 9-13. 1988
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| 219 | AHC, DMD, DXS239, DXS272, GK
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| A 10-megabase physical map of human Xp21, including the Duchenne muscular dystrophy gene.
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| 220 | DMD
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| Hu XY, Burghes AH, Ray PN, Thompson MW, Murphy EG, Worton RG.
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| 221 | DMD, DXS269
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| A deletion hot spot in the Duchenne muscular dystrophy gene.
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| Genomics 2 : 101-108. 1988
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| 222 | DMD
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| Forrest SM, Cross GS, Flint T, Speer A, Robson KJ, Davies KE.
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| Genomics 2 : 109-114. 1988
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| 223 | DMD
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| Mapping of 12 translocation breakpoints in the Xp21 region with respect to the locus for Duchenne muscular dystrophy.
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| Boyd Y, Cockburn D, Holt S, Munro E, Van Ommen GJ, Gillard B, Affara N, Ferguson-Smith M, Craig I.
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| Cytogenet Cell Genet 48 : 28-34. 1988
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| 224 | GK, DMD
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| Myopathy in complex glycerol kinase deficiency patients is due to 3' deletions of the dystrophin gene.
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| Am J Hum Genet 43 : 126-130. 1988
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| 225 | DMD
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| 226 | DMD
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| Clones from an 840-kb fragment containing the 5' region of the DMD locus enriched by pulsed field gel electrophoresis.
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| 227 | DMD
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| RFLP for Duchenne muscular dystrophy cDNA clone 44-1.
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| 229 | DMD
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| Molecular analysis of the Duchenne muscular dystrophy region using pulsed field gel electrophoresis.
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| Cell 48 : 351-357. 1987
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| 230 | DMD
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| Genetic linkage studies of Xp21 markers in several large multigeneration DMD families.
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| 231 | DMD, DXS270, DXS206
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| Analysis of linkage relationships between Xp loci XJ-1, DXS164, J-Bir and DXS28 and the locus for Duchenne muscular dystrophy and Becker dystrophy.
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| 232 | DMD
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| Assignment of the locus order DXS28-DXS67-DMD as a spin-off from diagnostic DNA marker analysis in a family with Duchenne muscular dystrophy.
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| 234 | DMD
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| Hybrid cell-mediated cloning of a new intragenic sequence from the 3'region of the DMD gene.
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| 235 | DMD
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| 57 per cent of DMD mutations detected directly by FIGE analysis.
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| 236 | DMD
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| Cosmid cloning, FIGE mapping, chromosome walking and RFLP study of a distal, intragenic DMD-deletion endpoint, expanding the DMD gene to over 2 million bp.
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| 238 | DMD
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| 239 | DMD, DXS206
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| The DXS206 locus is part of the Duchenne muscular dystrophy gene.
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| 240 | DMD, DXS272
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| Localization and cloning of Xp21 deletion breakpoints involved in muscular dystrophy.
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| Hum Genet 75 : 221-227. 1987
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| 241 | DMD
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| Genetic linkage study between the loci for Duchenne and Becker muscular dystrophy and nine X-chromosomal DNA markers.
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| Hum Genet 75 : 32-40. 1987
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| 242 | DMD
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| Molecular heterogeneity of translocations associated with muscular dystrophy.
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| Boyd Y, Munro E, Ray P, Worton R, Monaco T, Kunkel L, Craig I.
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| Clin Genet 31 : 265-272. 1987
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| 243 | DMD
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| Nature 328 : 434-437. 1987
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| 244 | DMD
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| Localization of the region homologous to the Duchenne muscular dystrophy locus on the mouse X chromosome.
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| Nature 328 : 168-170. 1987
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| 245 | DMD
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| The mapping of cDNA from the human X-linked Duchenne muscular dystrophy gene to the mouse X chromosome.
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| Nature 328 : 166-168. 1987
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| 246 | DMD
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| 247 | DMD
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| A giant locus for the Duchenne and Becker muscular dystrophy gene.
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| Trends Genet 3 : 33-37. 1987
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| 248 | DMD, DXS268
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| Long-range genomic map of the Duchenne muscular dystrophy (DMD) gene : isolation and use of J66 (DXS268), a distal intragenic marker.
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| 249 | DMD
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| A partial deletion of the muscular dystrophy gene transmitted twice by an unaffected male.
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| Nature 329 : 556-558. 1987
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| 250 | DMD
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| 251 | DMD
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| DNA studies in a family with Duchenne muscular dystrophy and a deletion at Xp21.
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| 252 | DMD
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| DNA deletions in mild and severe Becker muscular dystrophy.
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| Hum Genet 75 : 281-285. 1987
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| 253 | DMD, DXS148
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| Isolation of a random cosmid clone, cX5, which defines a new polymorphic locus DXS148 near the locus for Duchenne muscular dystrophy.
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| Hofker MH, Bergen AA, Skraastad MI, Bakker E, Francke U, Wieringa B, Bartley J, van Ommen GJ, Pearson PL.
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| Hum Genet 74 : 275-279. 1986
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| 254 | BMD, DMD, DXS164
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| Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy.
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| Nature 322 : 73-77. 1986
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| 255 | DMD
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| 256 | DMD
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| 257 | DMD
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| 258 | DMD
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| 259 | DMD
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| Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene.
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| Monaco AP, Neve RL, Colletti-Feener C, Bertelson CJ, Kurnit DM, Kunkel LM.
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| Nature 323 : 646-650. 1986
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| 260 | DMD
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| Mutation of the Duchenne muscular dystrophy gene associated with meiotic recombination.
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| Clin Genet 30 : 347-349. 1986
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| 261 | DMD
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| J Med Genet 23 : 531-537. 1986
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| 262 | DMD
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| Am J Med Genet 25 : 239-243. 1986
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| 263 | DMD
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| Boyd Y, Buckle V, Holt S, Munro E, Hunter D, Craig I.
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| J Med Genet 23 : 484-490. 1986
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| 264 | DMD
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| De novo DNA microdeletion in a girl with Turner syndrome and Duchenne muscular dystrophy.
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| Hum Genet 74 : 193-196. 1986
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| 265 | DMD, DXS84
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| Development of additional RFLP probes near the locus for Duchenne muscular dystrophy by cosmid cloning of the DXS84 (754) locus.
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| Hofker MH, van Ommen GJ, Bakker E, Burmeister M, Pearson PL.
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| Hum Genet 74 : 270-274. 1986
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| 266 | DMD
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| Estimation of the male to female ratio of mutation rates from thesegregation of X-chromosomal DNA haplotypes in Duchenne muscular dystrophy families.
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| Hum Genet 74 : 181-183. 1986
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| 267 | DMD
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| Duchenne muscular dystrophy in a female with a translocation involving Xp21.
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| 270 | DMD
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| Linkage analysis of polymorphisms within the DNA fragment XJ cloned from the breakpoint of an X;21 translocation associated with X-linked muscular dystrophy.
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| A physical map of 4 million bp around the Duchenne muscular dystrophy gene on the human X-chromosome.
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| van Ommen GJ, Verkerk JM, Hofker MH, Monaco AP, Kunkel LM, Ray P, Worton R, Wieringa B, Bakker E, Pearson PL.
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| Cell 47 : 499-504. 1986
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| 273 | DMD, DXS140, DXS141, DXS142, DXS164, DXS169
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| Specific cloning of DNA fragments absent from the DNA of a male patient with an X chromosome deletion.
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| Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment.
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