Citations for
1CD40, DMD
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
2DMD, JAG1
Jagged 1 Rescues the Duchenne Muscular Dystrophy Phenotype.
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
3DMD, FUBP1
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
4DMD, UTRN
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
5DMD
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
6BMD, DMD
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
7DMD
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
8DMD
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
9DMD
The ZZ domain of dystrophin in DMD: making sense of missense mutations.
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
10DMD, UTRN
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
11DMD, UTRN
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
12DMD
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
13DMD
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
14DMD, 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
15DMD
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
16DMD, 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
17DMD
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
18DMD, UTRN
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
19BMD, DMD
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
20DMD, WNT7A
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
21DMD
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
22DMD
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
23DMD
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
24ANK2, DCTN4, DMD
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
25DMD
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
26DMD
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
27DMD, UTRN
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
28DMD
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
29DMD
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
30DMD
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
31DMD
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
32DMD
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
33DMD
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
34DMD, 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
35BMD, 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
36BMD, 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
37DMD, MMP9
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
38DMD
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
39ANK2, 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
40DMD
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
41CAV3, 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
42DMD
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
43DMD, 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
44DMD
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
45DMD
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
46DMD
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
47BMP4, 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
48DMD, 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
49DMD
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
50DMD, 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
51DMD, 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
52DMD
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
53DMD
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
54DMD, 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
55DMD
Dystrophin-associated protein complex and heart failure.
Ganote CE, Armstrong SC.
Lancet 359(9310):905-6. No abstract available. 2002
56DMD
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
57DMD
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
58DMD
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
59UTRN, 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
60AQP4, 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
61DMD, 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
62DMD
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
63DMD
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
64DMD
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
65DMD
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
66DMD
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
67DMD
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
68DMD, MRX11
A novel deletion of the dystrophin S-promoter region cosegregating with mental retardation.
Chen DH, et al.
Neurology 52(3):638-40. 1999
69DMD
Expression of the 71 kDa dystrophin isoform (Dp71) evaluated by gene targeting.
Lumeng CN, et al.
Brain Res 830(1):174-8. 1999
70DMD
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
71BMD, 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
72DMD, 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
73CMD3B, 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
74DMD
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
75CMD3B, 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
76CMD3B, DMD
Study on mutations affecting the muscle promoter/first exon of the dystrophin gene in 92 Japanese dilated cardiomyopathy patients.
Shiga N, et al.
Am J Med Genet 79 : 226-227. 1998
77DMD
Identification of a novel actin binding site within the Dp71 dystrophin isoform.
Howard PL, et al.
FEBS Lett 441(2):337-41. 1998
78DMD, UPDXM
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
79DMD
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
80DMD
Large majority of single-nucleotide mutations along the dystrophin gene can be explained by more than one mechanism of mutagenesis.
Todorova A, Danieli GA.
Hum Mutat 9(6):537-47. 1997
81BMD, DMD
The clinical and molecular genetic approach to Duchenne and Becker muscular dystrophy: an updated protocol.
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
82DMD
Dp140: alternatively spliced isoforms in brain and kidney.
Lidov HG, Kunkel LM.
Genomics 45(1):132-9. 1997
83DMD
Exon-intron organization of the human dystrophin gene.
Nobile C, Marchi J, Nigro V, Roberts RG, Danieli GA.
Genomics 45(2):421-4. 1997
84BMD, 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
85DMD
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
86CMD3B, 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.
J Mol Cell Cardiol 29(12):3175-88. 1997
87CMD3B, 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
88DMD
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
89DMD
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
90BMD, DMD
Nonsense mutations in a Becker muscular dystrophy and an intermediate patient.
Prior TW, et al.
Hum Mutat 7 : 72-75. 1996
91DMD
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
92BMD, 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
93DMD
Two polymorphic dinucleotide repeats in intron 44 of the dystrophin gene.
Kšchling S, et al.
Hum Genet 95 : 475-477. 1995
94DMD
Dp140 : a novel 140 kDa CNS transcript from the dystrophin locus.
Lidov HGW, et al.
Hum Mol Genet 4 : 329-335. 1995
95DMD
Identification of variable length polyadenosine tract at the dystrophin locus.
Tuffery S, et al.
Hum Genet 95 : 590-592. 1995
96DMD, OED
A novel dystrophin isoform is required for normal retinal electrophysiology.
D'Souza VN, et al.
Hum Mol Genet 4 : 837-842. 1995
97CSNB2A, 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
98BMD, DMD
Spectrum of small mutations in the dystrophin coding region.
Prior TW, et al.
Am J Hum Genet 57 : 22-33. 1995
99DMD
Identification of a one-basepair deletion in exon 6 of the dystrophin gene.
Kavaslar GN, et al.
Hum Mutat 6 : 85-86. 1995
100DMD
Cloning and characterization of alternatively spliced isoforms of Dp71.
Austin RC, et al.
Hum Mol Genet 4 : 1475-1483. 1995
101DMD
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
102CMD3B, 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
103DMD
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
104BMD, 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
105DMD, 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
106DMD
Identification of a point mutation and germinal mosaicism in a Duchenne muscular dystrophy family.
Wilton SD, et al.
Hum Mutat 3 : 133-140. 1994
107DMD
Two dinucleotide repeat polymorphisms at the DMD locus.
King SC, et al.
Hum Mol Genet 3 : 523. 1994
108DMD
A polymorphic STS in intron 44 of the dystrophin gene.
Blonden LAJ, et al.
Hum Genet 93 : 479-480. 1994
109DMD
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
110DMD
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
111SGCA, SNTA1, SNTB1, DMD
Molecular organization at the glycoprotein-complex-binding site of dystrophin.
Suzuki A, et al.
Eur J Biochem 220 : 283-292. 1994
112DMD
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
113DMD
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
114BMD, 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
115DMD
Are CpG sites mutation hot spots in the dystrophin gene?
Akalin N, et al.
Hum Mol Genet 3 : 1425-1426. 1994
116DMD
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
117DMD
A PvuII polymorphism near exon 2 of the dystrophin gene.
Cross GS, et al.
Hum Genet 94 : 454-455. 1994
118BMD, 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
119CMD3B, DMD
Mutation of dystrophin gene and cardiomyopathy.
Nigro G, et al.
Neuromuscul Disord 4 : 371-379. 1994
120BMD, DMD
Prevalent cardiac involvement in dystrophin becker type mutation.
Siciliano G, et al.
Neuromuscul Disord 4 : 381-386. 1994
121DMD
Dystrophinopathy presenting as congenital muscular dystrophy.
Kyriakides T, et al.
Neuromuscul Disord 4 : 387-392. 1994
122DMD
A refined restriction map of YAC clones spanning the entire human dystrophin gene.
Nobile C, et al.
Mamm Genome 5 : 566-571. 1994
123DMD, UTRN
The utrophin and dystrophin genes share similarities in genomic structure.
Pearce M, et al.
Hum Mol Genet 2 : 1765-1772. 1993
124DMD
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
125DMD
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
126DMD
Exon structure of the human dystrophin gene.
Roberts RG, et al.
Genomics 16 : 536-538. 1993
127DMD
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
128DMD
Characterization of translational frame exception patients in Duchenne/Becker muscular dystrophy.
Winnard AV, et al.
Hum Mol Genet 2 : 737-744. 1993
129DMD
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
130DMD
A missense mutation in the dystrophin gene in a Duchenne muscular dystrophy patient.
Prior TW, et al.
Nat Genet 4 : 357-360. 1993
131DMD
A novel nonsense mutation in the human dystrophin gene.
Saad FA, et al.
Hum Mutat 2 : 314-316. 1993
132DMD
Exon 44 nonsense mutation in two-Duchenne muscular dystrophy brothers detected by heteroduplex analysis.
Prior TW, et al.
Hum Mutat 2 : 192-195. 1993
133DMD, 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
134DMD
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
135DMD
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
136DMD
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
137DMD
A yeast artificial chromosome contig containing the complete Duchenne muscular dystrophy gene.
Monaco AP, et al.
Genomics 12 : 465-473. 1992
138DMD
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
139DMD
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
140DMD
Point mutations in the dystrophin gene.
Roberts RG, et al.
Proc Natl Acad Sci U S A 89 : 2331-2335. 1992
141DMD
Deletions, duplications and novel restriction fragment length polymorphism in Duchenne and Becker muscular dystrophies.
Lau YL, et al.
Clin Genet 41 : 252-258. 1992
142DMD
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
143DMD
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
144DMD
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
145DMD
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
146DMD
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
147DMD
Expression of four alternative dystrophin transcripts in brain regions regulated by different promoters.
Gorecki DC, et al.
Hum Mol Genet 1 : 505-510. 1992
148DMD
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
149DMD
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
150DMD
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
151DMD
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
152DMD
Carrier detection of Duchenne/Becker muscular dystrophy : computer-assisted direct quantitation of gene amplification products.
Ishii K, et al.
Brain Dev 14 : 80-83. 1992
153DMD
Optimization of DNA extraction from formalin-fixed tissue and its clinical application in Duchenne muscular dystrophy.
Forsthoefel KF, Papp AC, Snyder PJ, Prior TW.
Am J Clin Pathol 98(1):98-104. 1992
154DMD
Normal dystrophin transcripts detected in Duchenne muscular dystrophy patients after myoblast transplantation.
Gussoni E, et al.
Nature 356 : 435-438. 1992
155DMD
242 breakpoints in the 200-kb deletion-prone P20 region of the DMD gene are widely spread.
Blonden LAJ, et al.
Genomics 10 : 631-639. 1991
156DMD
Exon skipping during splicing of dystrophin mRNA precursor due to an intraexon deletion in the dystrophin gene of Duchenne muscular dystrophy Kobe.
Matsuo M, Masumura T, Nishio H, Nakajima T, Kitoh Y, Takumi T, Koga J, Nakamura H.
J Clin Invest 87 : 2127-2131. 1991
157DMD
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
158DMD
A highly informative CACA repeat polymorphism upstream of the human dystrophin gene (DMD).
Hugnot JP, et al.
Nucleic Acids Res 19 : 3159. 1991
159DMD
Nonradioactive assay for new microsatellite polymorphisms at the 5' end of the dystrophin gene, and estimation of intragenic recombination.
Oudet C, et al.
Am J Hum Genet 49 : 311-319. 1991
160DMD
Direct detection of dystrophin gene rearrangements by analysis of dystrophin mRNA in peripheral blood lymphocytes.
Roberts RG, et al.
Am J Hum Genet 49 : 298-310. 1991
161DMD
DMD locus : some new data.
Evgrafov OV, et al.
(HGM11) Cytogenet Cell Genet 58 : 2062-2063. 1991
162DMD
Novel HindIII fragment detected with cDMD 4-5A.
Pastores GM, et al.
(HGM11) Cytogenet Cell Genet 58 : 2080. 1991
163DMD
A MseI polymorphism in exon 48 of the dystrophin gene.
Yau SC, et al.
Nucleic Acids Res 19 : 5803. 1991
164DMD
Molecular analysis of X-autosome translocations in females with Duchenne muscular dystrophy.
Bodrug SE, et al.
EMBO J 10 : 3931-3939. 1991
165DMD
Molecular deletion patterns in families from southern France with Duchenne/Becker muscular dystrophies.
Claustres M, et al.
Hum Genet 88 : 179-184. 1991
166DMD
Carrier detection and prenatal diagnosis in Duchenne and Becker muscular dystrophy families, using dinucleotide repeat polymorphisms.
Clemens PR, Fenwick RG, Chamberlain JS, Gibbs RA, de Andrade M, Chakraborty R, Caskey CT.
Am J Hum Genet 49 : 951-960. 1991
167DMD
Point mutation in the human dystrophin gene : identification through Western blot analysis.
Bulman DE, et al.
Genomics 10 : 457-460. 1991
168DMD
A screening for dystrophin gene deletions in Japanese patients with Duchenne/Becker muscular dystrophy by the multiplex polymerase chain reaction.
Sakuraba H, et al.
Brain Dev 13 : 339-342. 1991
169DMD
Dystrophin is transcribed in brain from a distant upstream promoter.
Boyce FM, et al.
Proc Natl Acad Sci U S A 88 : 1276-1280. 1991
170DMD
Analysis of a dystrophin gene deletion by amplification of mRNA isolated from DMD myotubes cultured in vitro.
Ehrenpreis J, et al.
Genomics 10 : 551-557. 1991
171AHC, DMD
Characterization of a Xp21 microdeletion syndrome in a 2-year-old boy with muscular dystrophy, glycerol kinase deficiency and adrenal hypoplasia congenita.
Stuhrmann M, Heilbronner H, Reis A, Wegner RD, Fischer P, Schmidtke J.
Hum Genet 86 : 414-415. 1991
172DMD
A dinucleotide repeat polymorphism at the DMD locus.
Powell JF, Fodor FH, Cockburn DJ, Monaco AP, Craig IW.
Nucleic Acids Res 19 : 1159. 1991
173DMD
Sequences of junction fragments in the deletion-prone region of the dystrophin gene.
Love DR, England SB, Speer A, Marsden RF, Bloomfield JF, Roche AL, Cross GS, Mountford RC, Smith TJ, Davies KE.
Genomics 10 : 57-67. 1991
174DMD
Determination of Duchenne muscular dystrophy carrier status by single strand conformation polymorphism analysis of deleted regions of the dystrophin locus.
Richards RI, Friend K.
J Med Genet 28 : 856-859. 1991
175DMD
An informative polymorphism detectable by polymerase chain reaction at the 3' end of the dystrophin gene.
Oudet C, Heilig R, Mandel JL.
Hum Genet 84 : 283-285. 1990
176DMD
A polymorphic CACA repeat in the 3' untranslated region of dystrophin.
Beggs AH, Kunkel LM.
Nucleic Acids Res 18 : 1931. 1990
177DMD
Duplicational mutation at the Duchenne muscular dystrophy locus: its frequency, distribution, origin, and phenotype genotype correlation.
Hu XY, Ray PN, Murphy EG, Thompson MW, Worton RG.
Am J Hum Genet 46 : 682-695. 1990
178DMD
A MaeIII polymorphism near the dystrophin gene promoter by restriction of amplified DNA.
Roberts RG, Bobrow M, Bentley DR.
Nucleic Acids Res 18 : 1315. 1990
179DMD
PvuII RFLPs in the DMD gene detected by a subclone (cDMD1a) of the cDNA.
Deng HX, Niikawa N.
Nucleic Acids Res 18 : 3107. 1990
180DMD
RFLPs for Duchenne muscular dystrophy cDNA clones 9 and 10.
Liechti-Gallati S, Schneider V, Mullis P, Moser H.
Am J Hum Genet 46 : 1090-1094. 1990
181DMD
Prenatal identification of a girl with a t(X;4)(p21;q35) translocation: molecular characterisation, paternal origin, and association with muscular dystrophy.
Bodrug SE, Roberson JR, Weiss L, Ray PN, Worton RG, Van Dyke DL.
J Med Genet 27 : 426-432. 1990
182DMD
Atypical X-linked muscular dystrophy with mental retardation : analysis of a large deletion at the proximal region of dystrophin gene.
Shimmoto M, et al.
Brain Dysfunct 3 : 72-79. 1990
183DMD
Intragenic deletions in 164 boys with Duchenne muscular dystrophy (DMD) studied with dystrophin cDNA.
Upadhyaya M, Smith RA, Thomas NS, Norman AM, Harper PS.
Clin Genet 37 : 456-462. 1990
184DMD
Rapid detection of deletions in the Duchenne muscular dystrophy gene by PCR amplification of deletion-prone exon sequences.
Hentemann M, Reiss J, Wagner M, Cooper DN.
Hum Genet 84 : 228-232. 1990
185DMD
Determination of carrier status in Duchenne and Becker muscular dystrophies by quantitative polymerase chain reaction and allele-specific oligonucleotides.
Prior TW, Papp AC, Snyder PJ, Highsmith WE Jr, Friedman KJ, Perry TR, Silverman LM, Mendell JR.
Clin Chem 36 : 2113-2117. 1990
186BMD, DMD
Direct diagnosis of carriers of Duchenne and Becker muscular dystrophy by amplification of lymphocyte RNA.
Roberts RG, Bentley DR, Barby TF, Manners E, Bobrow M.
Lancet 336 : 1523-1526. 1990
187DMD
Accurate assessment of intragenic recombination frequency within the Duchenne muscular dystrophy gene.
Abbs S, Roberts RG, Mathew CG, Bentley DR, Bobrow M.
Genomics 7 : 602-606. 1990
188DMD
Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction.
Beggs AH, et al.
Hum Genet 86 : 45-48. 1990
189DMD
Direct carrier detection by in situ suppression hybridization with cosmid clones of the Duchenne/Becker muscular dystrophy locus.
Ried T, Mahler V, Vogt P, Blonden L, van Ommen GJ, Cremer T, Cremer M.
Hum Genet 85 : 581-586. 1990
190DMD
A Banl RFLP at a deletion hotspot in the human dystrophin gene.
Read AP, Mountford R.
Nucleic Acids Res 18 : 385. 1990
191DMD
A genetic linkage map of five marker loci in and around the Duchenne muscular dystrophy locus.
Chen JD, Hejtmancik JF, Romeo G, Lindlof M, Boehm C, Caskey CT, Kress W, Fischbeck KH, Dreier M, Serravalle S, et al.
Genomics 4 : 105-109. 1989
192DMD
Absence of dystrophin in Becker muscular dystrophy.
Patel K, Leevers S, Abbs S, Hart KA, Heckmatt JZ, Bobrow M, Dubowitz V.
Lancet 1(8628):47. 1989
193DMD
MspI RFLP for Duchenne muscular dystrophy cDNA subclone 9.
Wagner M, Reiss J, Hentemann M, Thies U.
Nucleic Acids Res 17(8):3328. 1989
194DMD
Duchenne muscular dystrophy: detection of deletion carriers by spectrophotometric densitometry.
Laing NG, Siddique T, Bartlett R, Yamaoka LH, Hung WY, Pericak-Vance MA, Roses AD.
Clin Genet 35 : 393-398. 1989
195DMD
High resolution deletion breakpoint mapping in the DMD gene by whole cosmid hybridization.
Blonden LA, den Dunnen JT, van Paassen HM, Wapenaar MC, Grootscholten PM, Ginjaar HB, Bakker E, Pearson PL, van Ommen GJ.
Nucleic Acids Res 17 : 5611-5621. 1989
196DMD
An MspI polymorphism for the dystrophin intragenic probe J-47.
Meng G, Muller CR.
Nucleic Acids Res 17 : 6756. 1989
197DMD
Correlation of clinical and deletion data in Duchenne and Becker muscular dystrophy.
Hodgson SV, Abbs S, Clark S, Manzur A, Heckmatt JZ, Dubowitz V, Bobrow M.
J Med Genet 26 : 682-693. 1989
198DMD
Germinal mosaicism increases the recurrence risk for new Duchenne muscular dystrophy mutations.
Bakker E, Veenema H, Den Dunnen JT, van Broeckhoven C, Grootscholten PM, Bonten EJ, van Ommen GJ, Pearson PL.
J Med Genet 26 : 553-559. 1989
199DMD
The molecular basis for Duchenne versus Becker muscular dystrophy : correlation of severity with type of deletion.
Koenig M, Beggs AH, Moyer M, Scherpf S, Heindrich K, Bettecken T, Meng G, Muller CR, Lindlof M, Kaariainen H, et al.
Am J Hum Genet 45 : 498-506. 1989
200DMD, DXS164
Rapid carrier and prenatal diagnosis of Duchenne and Becker muscular dystrophy.
Roberts RG, Cole CG, Hart KA, Bobrow M, Bentley DR.
Nucleic Acids Res 17 : 811. 1989
201DMD
DNA amplification of a further exon of Duchenne muscular dystrophy locus increase possibilities for deletion screening.
Speer A, Rosenthal A, Billwitz H, Hanke R, Forrest SM, Love D, Davies KE, Coutelle C.
Nucleic Acids Res 17 : 4892. 1989
202DMD
Prenatal diagnosis of Duchenne muscular dystrophy: prospective linkage analysis and retrospective dystrophin cDNA analysis.
Ward PA, Hejtmancik JF, Witkowski JA, Baumbach LL, Gunnell S, Speer J, Hawley P, Tantravahi U, Caskey CT.
Am J Hum Genet 44 : 270-281. 1989
203DMD
Evidence for mutation by unequal sister chromatid exchange in the Duchenne muscular dystrophy gene.
Hu XY, Burghes AH, Bulman DE, Ray PN, Worton RG.
Am J Hum Genet 44 : 855-863. 1989
204DMD
Topography of the Duchenne muscular distrophy (DMD) gene : FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications.
Den Dunnen JT, Grootscholten PM, Bakker E, Blonden LA, Ginjaar HB, Wapenaar MC, van Paassen HM, van Broeckhoven C, Pearson PL, van Ommen GJ.
Am J Hum Genet 45 : 835-847. 1989
205DMD, BMD
Analysis of molecular deletions with cDNA probes in patients with Duchenne and Becker muscular dystrophies.
Gilgenkrantz H, Chelly J, Lambert M, Recan D, Barbot JC, van Ommen GJ, Kaplan JC.
Genomics 5 : 574-580. 1989
206DMD
Two human cDNA molecules coding for the Duchenne muscular dystrophy (DMD) locus are highly homologous.
Rosenthal A, Speer A, Billwitz H, Cross GS, Forrest SM, Davies KE.
Nucleic Acids Res 17 : 5391. 1989
207DMD
Transcription of the dystrophin gene in Duchenne muscular dystrophy muscle.
Muntoni F, Strong PN.
FEBS Lett 252 : 95-98. 1989
208DMD
Normal human genomic restriction-fragment patterns and polymorphisms revealed by hybridization with the entire dystrophin cDNA.
Darras BT, Francke U.
Am J Hum Genet 43 : 612-619. 1988
209DMD
The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein.
Koenig M, Monaco AP, Kunkel LM.
Cell 53 : 219-228. 1988
210DMD
Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne's or Becker's muscular dystrophy.
Hoffman EP, Fischbeck KH, Brown RH, Johnson M, Medori R, Loike JD, Harris JB, Waterston R, Brooke M, Specht L, et al.
N Engl J Med 318 : 1363-1368. 1988
211DMD
Distinct dystrophin mRNA species are expressed in embryonic and adult mouse skeletal muscle.
Dickson G, Pizzey JA, Elsom VE, Love D, Davies KE, Walsh FS.
FEBS Lett 242 : 47-52. 1988
212DMD
Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification.
Chamberlain JS, Gibbs RA, Ranier JE, Nguyen PN, Caskey CT.
Nucleic Acids Res 16 : 11141-11156. 1988
213DMD
Direct method for prenatal diagnosis and carrier detection in Duchenne/Becker muscular dystrophy using the entire dystrophin cDNA.
Darras BT, Koenig M, Kunkel LM, Francke U.
Am J Med Genet 29 : 713-726. 1988
214DMD
Intragenic deletions in 21 Duchenne muscular dystrophy (DMD)/Becker muscular dystrophy (BMD) families studied with the dystrophin cDNA: location of breakpoints on HindIII and BglII exon-containing fragment maps, meiotic and mitotic origin of the mutations.
Darras BT, Blattner P, Harper JF, Spiro AJ, Alter S, Francke U.
Am J Hum Genet 43 : 620-629. 1988
215DMD
Frame-shift deletions in patients with Duchenne and Becker muscular dystrophy.
Malhotra SB, Hart KA, Klamut HJ, Thomas NS, Bodrug SE, Burghes AH, Bobrow M, Harper PS, Thompson MW, Ray PN, et al.
Science 242 : 755-759. 1988
216DMD
An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus.
Monaco AP, Bertelson CJ, Liechti-Gallati S, Moser H, Kunkel LM.
Genomics 2 : 90-95. 1988
217DMD
Transcription of the dystrophin gene in human muscle and non-muscle tissues.
Chelly J, Kaplan JC, Maire P, Gautron S, Kahn A.
Nature 333 : 858-860. 1988
218DMD
Mild and severe muscular dystrophy associated with deletions in Xp21 of the human X chromosome.
Davies KE, Smith TJ, Bundey S, Read AP, Flint T, Bell M, Speer A.
J Med Genet 25 : 9-13. 1988
219AHC, DMD, DXS239, DXS272, GK
A 10-megabase physical map of human Xp21, including the Duchenne muscular dystrophy gene.
Burmeister M, Monaco AP, Gillard EF, van Ommen GJ, Affara NA, Ferguson-Smith MA, Kunkel LM, Lehrach H.
Genomics 2 : 189-202. 1988
220DMD
Partial gene duplication in Duchenne and Becker muscular dystrophies.
Hu XY, Burghes AH, Ray PN, Thompson MW, Murphy EG, Worton RG.
J Med Genet 25 : 369-376. 1988
221DMD, DXS269
A deletion hot spot in the Duchenne muscular dystrophy gene.
Wapenaar MC, Kievits T, Hart KA, Abbs S, Blonden LA, den Dunnen JT, Grootscholten PM, Bakker E, Verellen-Dumoulin C, Bobrow M, et al.
Genomics 2 : 101-108. 1988
222DMD
Further studies of gene deletions that cause Duchenne and Becker muscular dystrophies.
Forrest SM, Cross GS, Flint T, Speer A, Robson KJ, Davies KE.
Genomics 2 : 109-114. 1988
223DMD
Mapping of 12 translocation breakpoints in the Xp21 region with respect to the locus for Duchenne muscular dystrophy.
Boyd Y, Cockburn D, Holt S, Munro E, Van Ommen GJ, Gillard B, Affara N, Ferguson-Smith M, Craig I.
Cytogenet Cell Genet 48 : 28-34. 1988
224GK, DMD
Myopathy in complex glycerol kinase deficiency patients is due to 3' deletions of the dystrophin gene.
Darras BT, et al.
Am J Hum Genet 43 : 126-130. 1988
225DMD
RFLP for Duchenne muscular dystrophy cDNA clone 30-2.
Walker AP, Bartlett RJ, Laing NG, Siddique T, Yamaoka LH, Chen JC, Hung WY, Roses AD.
Nucleic Acids Res 16 : 9072. 1988
226DMD
Clones from an 840-kb fragment containing the 5' region of the DMD locus enriched by pulsed field gel electrophoresis.
Anand R, Honeycombe J, Whittaker PA, Elder JK, Southern EM.
Genomics 3 : 177-186. 1988
227DMD
RFLP for Duchenne muscular dystrophy cDNA clone 44-1.
Laing NG, Siddique T, Bartlett RJ, Yamaoka LH, Chen JC, Walker AP, Hung WY, Roses AD.
Nucleic Acids Res 16 : 7209. 1988
228DMD
Dystrophin: the protein product of the Duchenne muscular dystrophy locus.
Hoffman EP, Brown RH Jr, Kunkel LM.
Cell 51 : 919-928. 1987
229DMD
Molecular analysis of the Duchenne muscular dystrophy region using pulsed field gel electrophoresis.
Kenwrick S, Patterson M, Speer A, Fischbeck K, Davies K.
Cell 48 : 351-357. 1987
230DMD
Genetic linkage studies of Xp21 markers in several large multigeneration DMD families.
Pericak-Vance MA, et al.
(HGM9) Cytogenet Cell Genet 46 : 675. 1987
231DMD, DXS270, DXS206
Analysis of linkage relationships between Xp loci XJ-1, DXS164, J-Bir and DXS28 and the locus for Duchenne muscular dystrophy and Becker dystrophy.
Denton MJ, et al.
(HGM9) Cytogenet Cell Genet 46 : 606. 1987
232DMD
Assignment of the locus order DXS28-DXS67-DMD as a spin-off from diagnostic DNA marker analysis in a family with Duchenne muscular dystrophy.
Norby S, Schwartz M.
Clin Genet 31 : 192-197. 1987
233DMD
Two-point linkage analysis and disequilibrium values associated with Duchenne Muscular Dystrophy (DMD) locus at Xp21.
Daiger SP, et al.
(HGM9) Cytogenet Cell Genet 46 : 602. 1987
234DMD
Hybrid cell-mediated cloning of a new intragenic sequence from the 3'region of the DMD gene.
Wapenaar MC, et al.
(HGM9) Cytogenet Cell Genet 46 : 711. 1987
235DMD
57 per cent of DMD mutations detected directly by FIGE analysis.
Den Dunnen JT, et al.
(HGM9) Cytogenet Cell Genet 46 : 606. 1987
236DMD
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.
Ginjaar HB, et al.
(HGM9) Cytogenet Cell Genet 46 : 620. 1987
237DMD
Localisation of DMD deletion mutations relative to intragenic probes.
Bakker E, et al.
(HGM9) Cytogenet Cell Genet 46 : 574. 1987
238DMD
Genetic analysis of DMD locus in a large sample of families with DMD or BMD.
Jeanpierre M, et al.
(HGM9) Cytogenet Cell Genet 46 : 633. 1987
239DMD, DXS206
The DXS206 locus is part of the Duchenne muscular dystrophy gene.
Worton RG, et al.
(HGM9) Cytogenet Cell Genet 46 : 720. 1987
240DMD, DXS272
Localization and cloning of Xp21 deletion breakpoints involved in muscular dystrophy.
Monaco AP, Bertelson CJ, Colletti-Feener C, Kunkel LM.
Hum Genet 75 : 221-227. 1987
241DMD
Genetic linkage study between the loci for Duchenne and Becker muscular dystrophy and nine X-chromosomal DNA markers.
Wilichowski E, Krawczak M, Seemanova E, Hanefeld F, Schmidtke J.
Hum Genet 75 : 32-40. 1987
242DMD
Molecular heterogeneity of translocations associated with muscular dystrophy.
Boyd Y, Munro E, Ray P, Worton R, Monaco T, Kunkel L, Craig I.
Clin Genet 31 : 265-272. 1987
243DMD
A cDNA clone from the Duchenne/Becker muscular dystrophy gene.
Burghes AH, Logan C, Hu X, Belfall B, Worton RG, Ray PN.
Nature 328 : 434-437. 1987
244DMD
Localization of the region homologous to the Duchenne muscular dystrophy locus on the mouse X chromosome.
Heilig R, Lemaire C, Mandel JL, Dandolo L, Amar L, Avner P.
Nature 328 : 168-170. 1987
245DMD
The mapping of cDNA from the human X-linked Duchenne muscular dystrophy gene to the mouse X chromosome.
Brockdorff N, Cross GS, Cavanna JS, Fisher EM, Lyon MF, Davies KE, Brown SD.
Nature 328 : 166-168. 1987
246DMD
Prenatal diagnosis and detection of carriers with DNA probes in Duchenne's muscular dystrophy.
Darras BT, Harper JF, Francke U.
N Engl J Med 316 : 985-989. 1987
247DMD
A giant locus for the Duchenne and Becker muscular dystrophy gene.
Monaco AP, et al.
Trends Genet 3 : 33-37. 1987
248DMD, DXS268
Long-range genomic map of the Duchenne muscular dystrophy (DMD) gene : isolation and use of J66 (DXS268), a distal intragenic marker.
van Ommen GJ, Bertelson C, Ginjaar HB, den Dunnen JT, Bakker E, Chelly J, Matton M, van Essen AJ, Bartley J, Kunkel LM, et al.
Genomics 1 : 329-336. 1987
249DMD
A partial deletion of the muscular dystrophy gene transmitted twice by an unaffected male.
Darras BT, Francke U.
Nature 329 : 556-558. 1987
250DMD
A 230kb cosmid walk in the Duchenne muscular dystrophy gene : detection of a conserved sequence and of a possible deletion prone region.
Heilig R, Lemaire C, Mandel JL.
Nucleic Acids Res 15 : 9129-9142. 1987
251DMD
DNA studies in a family with Duchenne muscular dystrophy and a deletion at Xp21.
Greenberg CR, Hamerton JL, Nigli M, Wrogemann K.
Am J Hum Genet 41 : 128-137. 1987
252DMD
DNA deletions in mild and severe Becker muscular dystrophy.
Hart KA, Hodgson S, Walker A, Cole CG, Johnson L, Dubowitz V, Bobrow M.
Hum Genet 75 : 281-285. 1987
253DMD, DXS148
Isolation of a random cosmid clone, cX5, which defines a new polymorphic locus DXS148 near the locus for Duchenne muscular dystrophy.
Hofker MH, Bergen AA, Skraastad MI, Bakker E, Francke U, Wieringa B, Bartley J, van Ommen GJ, Pearson PL.
Hum Genet 74 : 275-279. 1986
254BMD, DMD, DXS164
Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy.
Kunkel LM, Hejtmancik JF, Caskey CT, Speer A, Monaco AP, Middlesworth W, Colletti CA, Bertelson C, Muller U, Bresnan M, Shapiro F, Tantravahi U, Speer J, Latt SA, Bartlett R, Pericak-Vance MA, Roses AD, Thompson MW, Ray PN, Worton RG, Fischbeck KH, Gallano P, Coulon M, Duros C, Boue J, Junien C, Chelly J, Hamard G, Jeanpierre M, Lambert M, Kaplan JC, Emery A, Dorkins H, McGlade S, Davies KE, Boehm C, Arveiler B, Lemaire C, Morgan GJ, Denton MJ, Amos J, Bobrow M, Benham F, Boswinkel E, Cole C, Dubowitz V, Hart K, Hodgson S, Johnson L, Walker A, Roncuzzi L, Ferlini A, Nobile C, Romeo G, Wilcox DE, Affara NA, Ferguson-Smith MA, Lindolf M, Kaariainen H, de la Chapelle A, Ionasescu V, Searby C, Ionasescu R, Bakker E, van Ommen GJ, Pearson PL, Greenberg CR, Hamerton JL, Wrogemann K, Doherty RA, Polakowska R, Hyser C, Quirk S, Thomas N, Harper JF, Darras BT, Francke U.
Nature 322 : 73-77. 1986
255DMD
Duchenne muscular dystrophy due to familial Xp21 deletion detectable by DNA analysis and flow cytometry.
Wilcox DE, Cooke A, Colgan J, Boyd E, Aitken DA, Sinclair L, Glasgow L, Stephenson JB, Ferguson-Smith MA.
Hum Genet 73 : 175-180. 1986
256DMD
A multipoint linkage analysis program for X-linked disorders, with the example of Duchenne muscular dystrophy and seven DNA probes.
Clayton J.
Hum Genet 73 : 68-72. 1986
257DMD
Cytogenetic heterogeneity of translocations associated with Duchenne muscular dystrophy.
Boyd Y, Buckle VJ.
Clin Genet 29 : 108-115. 1986
258DMD
DNA probe analysis for carrier detection and prenatal diagnosis of Duchenne muscular dystrophy : a standard diagnosis procedure.
Bakker E, Bonten EJ, De Lange LF, Veenema H, Majoor-Krakauer D, Hofker MH, Van Ommen GJ, Pearson PL.
J Med Genet 23 : 573-580. 1986
259DMD
Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene.
Monaco AP, Neve RL, Colletti-Feener C, Bertelson CJ, Kurnit DM, Kunkel LM.
Nature 323 : 646-650. 1986
260DMD
Mutation of the Duchenne muscular dystrophy gene associated with meiotic recombination.
Bakker E, Pearson PL.
Clin Genet 30 : 347-349. 1986
261DMD
Localisation of Xp21 meiotic exchange points in Duchenne muscular dystrophy families.
Bertelson CJ, Bartley JA, Monaco AP, Colletti-Feener C, Fischbeck K, Kunkel LM.
J Med Genet 23 : 531-537. 1986
262DMD
Duchenne muscular dystrophy in a girl with a 45,X/46,XX/47,XXX chromosome constitution.
Bortolini ER, da Silva DM, Chequer RS, Vianna-Morgante AM, Zatz M.
Am J Med Genet 25 : 239-243. 1986
263DMD
Muscular dystrophy in girls with X;autosome translocations.
Boyd Y, Buckle V, Holt S, Munro E, Hunter D, Craig I.
J Med Genet 23 : 484-490. 1986
264DMD
De novo DNA microdeletion in a girl with Turner syndrome and Duchenne muscular dystrophy.
Chelly J, Marlhens F, Le Marec B, Jeanpierre M, Lambert M, Hamard G, Dutrillaux B, Kaplan JC.
Hum Genet 74 : 193-196. 1986
265DMD, DXS84
Development of additional RFLP probes near the locus for Duchenne muscular dystrophy by cosmid cloning of the DXS84 (754) locus.
Hofker MH, van Ommen GJ, Bakker E, Burmeister M, Pearson PL.
Hum Genet 74 : 270-274. 1986
266DMD
Estimation of the male to female ratio of mutation rates from thesegregation of X-chromosomal DNA haplotypes in Duchenne muscular dystrophy families.
Muller CR, Grimm T.
Hum Genet 74 : 181-183. 1986
267DMD
Duchenne muscular dystrophy in a female with a translocation involving Xp21.
Nevin NC, Hughes AE, Calwell M, Lim JH.
J Med Genet 23 : 171-187. 1986
268DMD
Duchenne muscular dystrophy in a girl with an (X;15) translocation.
Ribeiro MC, Melaragno MI, Schmidt B, Brunoni D, Gabbai AA, Hackel C.
Am J Med Genet 25 : 231-236. 1986
269DMD
Origin of new mutations in Duchenne muscular dystrophy.
Roncuzzi L, Ferlini A, Pirozzi A, Romeo G.
Hum Genet 74 : 456-460. 1986
270DMD
Linkage analysis of polymorphisms within the DNA fragment XJ cloned from the breakpoint of an X;21 translocation associated with X-linked muscular dystrophy.
Thompson MW, Ray PN, Belfall B, Duff C, Logan C, Oss I, Worton RG.
J Med Genet 23 : 548-555. 1986
271DMD
Linkage studies in Duchenne muscular dystrophies.
Walker A, Hart K, Cole C, Hodgson S, Johnson L, Dubowitz V, Bobrow M.
J Med Genet 23 : 538-547. 1986
272DMD, DXS147, DXS148, DXS149, DXS150, DXS151, DXS152, DXS153, DXS154, DXS155, DXS156, DXS157, DXS158, DXS159, DXS160, DXS161, DXS162, DXS230
A physical map of 4 million bp around the Duchenne muscular dystrophy gene on the human X-chromosome.
van Ommen GJ, Verkerk JM, Hofker MH, Monaco AP, Kunkel LM, Ray P, Worton R, Wieringa B, Bakker E, Pearson PL.
Cell 47 : 499-504. 1986
273DMD, DXS140, DXS141, DXS142, DXS164, DXS169
Specific cloning of DNA fragments absent from the DNA of a male patient with an X chromosome deletion.
Kunkel LM, Monaco AP, Middlesworth W, Ochs HD, Latt SA.
Proc Natl Acad Sci U S A 82 : 4778-4782. 1985
274MCLDP, CYBB, DMD, DXS28
Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome.
Francke U, Ochs HD, de Martinville B, Giacalone J, Lindgren V, Disteche C, Pagon RA, Hofker MH, van Ommen GJ, Pearson PL, et al.
Am J Hum Genet 37 : 250-267. 1985
275DMD, DXS164
Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment.
Monaco AP, Bertelson CJ, Middlesworth W, Colletti CA, Aldridge J, Fischbeck KH, Bartlett R, Pericak-Vance MA, Roses AD, Kunkel LM.
Nature 316 : 842-845. 1985
276DMD
Prenatal diagnosis and carrier detection of Duchenne muscular dystrophy with closely linked RFLPs.
Bakker E, Hofker MH, Goor N, Mandel JL, Wrogemann K, Davies KE, Kunkel LM, Willard HF, Fenton WA, Sandkuyl L, et al.
Lancet I : 655-658. 1985
277DMD, DXS28, DXS84
Segregation analysis of a marker localised Xp21.2-Xp21.3 in Duchenne and Becker muscular dystrophy families.
Dorkins H, Junien C, Mandel JL, Wrogemann K, Moison JP, Martinez M, Old JM, Bundey S, Schwartz M, Carpenter N, et al.
Hum Genet 71 : 103-107. 1985
278DXS206, DMD
Cloning of the breakpoint of an X;21 translocation associated with Duchenne muscular dystrophy.
Ray PN, Belfall B, Duff C, Logan C, Kean V, Thompson MW, Sylvester JE, Gorski JL, Schmickel RD, Worton RG.
Nature 318 : 672-675. 1985
279DMD
Human X chromosome markers and Duchenne muscular dystrophy.
Davies KE, Speer A, Herrmann F, Spiegler AW, McGlade S, Hofker MH, Briand P, Hanke R, Schwartz M, Steinbicker V, et al.
Nucleic Acids Res 13 : 3419-3426. 1985
280DMD
Localisation of the Becker muscular dystrophy gene on the short arm of the X chromosome by linkage to cloned DNA sequences.
Kingston HM, Sarfarazi M, Thomas NS, Harper PS.
Hum Genet 67 : 6-17. 1984
281DMD
Expression of an X-linked muscular dystrophy in a female due to translocation involving Xp21 and a non-random inactivation of the normal X chromosome.
Verellen-Dumoulin C, Freund M, De Meyer R, Laterre C, Frederic J, Thompson MW, Markovic VD, Worton RG.
Hum Genet 67 : 115-119. 1984
282DMD
Linkage relationship of a cloned DNA sequence on the short arm of the X chromosome to Duchenne muscular dystrophy.
Murray JM, Davies KE, Harper PS, Meredith L, Mueller CR, Williamson R.
Nature 300 : 69-71. 1982