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Items: 1 to 20 of 93

1.

Dissecting the structure and mechanism of a complex duplication-triplication rearrangement in the DMD gene.

Ishmukhametova A, Chen JM, Bernard R, de Massy B, Baudat F, Boyer A, Méchin D, Thorel D, Chabrol B, Vincent MC, Khau Van Kien P, Claustres M, Tuffery-Giraud S.

Hum Mutat. 2013 Aug;34(8):1080-4. doi: 10.1002/humu.22353. Epub 2013 Jun 3.

PMID:
23649991
2.

Characterization of a complex Duchenne muscular dystrophy-causing dystrophin gene inversion and restoration of the reading frame by induced exon skipping.

Madden HR, Fletcher S, Davis MR, Wilton SD.

Hum Mutat. 2009 Jan;30(1):22-8. doi: 10.1002/humu.20806.

PMID:
18570328
3.

Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization.

del Gaudio D, Yang Y, Boggs BA, Schmitt ES, Lee JA, Sahoo T, Pham HT, Wiszniewska J, Chinault AC, Beaudet AL, Eng CM.

Hum Mutat. 2008 Sep;29(9):1100-7. doi: 10.1002/humu.20841.

PMID:
18752307
4.

An intragenic deletion/inversion event in the DMD gene determines a novel exon creation and results in a BMD phenotype.

Cagliani R, Sironi M, Ciafaloni E, Bardoni A, Fortunato F, Prelle A, Serafini M, Bresolin N, Comi GP.

Hum Genet. 2004 Jun;115(1):13-8. Epub 2004 Apr 30.

PMID:
15118904
5.

Tandem duplications of two separate fragments of the dystrophin gene in a patient with Duchenne muscular dystrophy.

Zhang Z, Takeshima Y, Awano H, Nishiyama A, Okizuka Y, Yagi M, Matsuo M.

J Hum Genet. 2008;53(3):215-9. Epub 2007 Dec 27.

PMID:
18160999
6.

Insertion of the IL1RAPL1 gene into the duplication junction of the dystrophin gene.

Zhang Z, Yagi M, Okizuka Y, Awano H, Takeshima Y, Matsuo M.

J Hum Genet. 2009 Aug;54(8):466-73. doi: 10.1038/jhg.2009.63. Epub 2009 Jul 17.

PMID:
19609279
7.

Duchenne muscular dystrophy caused by a complex rearrangement between intron 43 of the DMD gene and chromosome 4.

Baskin B, Gibson WT, Ray PN.

Neuromuscul Disord. 2011 Mar;21(3):178-82. doi: 10.1016/j.nmd.2010.11.008. Epub 2010 Dec 4.

PMID:
21134752
8.

Elucidation of the complex structure and origin of the human trypsinogen locus triplication.

Chauvin A, Chen JM, Quemener S, Masson E, Kehrer-Sawatzki H, Ohmle B, Cooper DN, Le Maréchal C, Férec C.

Hum Mol Genet. 2009 Oct 1;18(19):3605-14. doi: 10.1093/hmg/ddp308. Epub 2009 Jul 7.

PMID:
19584086
9.

Genetic diagnosis of Duchenne and Becker muscular dystrophy using next-generation sequencing technology: comprehensive mutational search in a single platform.

Lim BC, Lee S, Shin JY, Kim JI, Hwang H, Kim KJ, Hwang YS, Seo JS, Chae JH.

J Med Genet. 2011 Nov;48(11):731-6. doi: 10.1136/jmedgenet-2011-100133. Epub 2011 Oct 3.

PMID:
21969337
10.

Duplications in the DMD gene.

White SJ, Aartsma-Rus A, Flanigan KM, Weiss RB, Kneppers AL, Lalic T, Janson AA, Ginjaar HB, Breuning MH, den Dunnen JT.

Hum Mutat. 2006 Sep;27(9):938-45.

PMID:
16917894
11.

Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome.

Carvalho CM, Ramocki MB, Pehlivan D, Franco LM, Gonzaga-Jauregui C, Fang P, McCall A, Pivnick EK, Hines-Dowell S, Seaver LH, Friehling L, Lee S, Smith R, Del Gaudio D, Withers M, Liu P, Cheung SW, Belmont JW, Zoghbi HY, Hastings PJ, Lupski JR.

Nat Genet. 2011 Oct 2;43(11):1074-81. doi: 10.1038/ng.944.

12.

Two non-contiguous duplications in the DMD gene in a Spanish family.

Fenollar-Cortés M, Gallego-Merlo J, Trujillo-Tiebas MJ, Lorda-Sánchez I, Ayuso C.

J Neurogenet. 2008 Jan-Mar;22(1):93-101. doi: 10.1080/01677060701686184.

PMID:
18363165
13.

Characterization of deletion breakpoints in patients with dystrophinopathy carrying a deletion of exons 45-55 of the Duchenne muscular dystrophy (DMD) gene.

Miyazaki D, Yoshida K, Fukushima K, Nakamura A, Suzuki K, Sato T, Takeda S, Ikeda S.

J Hum Genet. 2009 Feb;54(2):127-30. doi: 10.1038/jhg.2008.8. Epub 2009 Jan 9.

PMID:
19158820
14.

Inverted low-copy repeats and genome instability--a genome-wide analysis.

Dittwald P, Gambin T, Gonzaga-Jauregui C, Carvalho CM, Lupski JR, Stankiewicz P, Gambin A.

Hum Mutat. 2013 Jan;34(1):210-20. doi: 10.1002/humu.22217. Epub 2012 Oct 11.

15.

A novel insertion of a rearranged L1 element in exon 44 of the dystrophin gene: further evidence for possible bias in retroposon integration.

Musova Z, Hedvicakova P, Mohrmann M, Tesarova M, Krepelova A, Zeman J, Sedlacek Z.

Biochem Biophys Res Commun. 2006 Aug 18;347(1):145-9. Epub 2006 Jun 21.

PMID:
16808900
16.

Regional genomic instability predisposes to complex dystrophin gene rearrangements.

Oshima J, Magner DB, Lee JA, Breman AM, Schmitt ES, White LD, Crowe CA, Merrill M, Jayakar P, Rajadhyaksha A, Eng CM, del Gaudio D.

Hum Genet. 2009 Sep;126(3):411-23. doi: 10.1007/s00439-009-0679-9. Epub 2009 May 16.

PMID:
19449031
17.

MLPA analysis for the detection of deletions, duplications and complex rearrangements in the dystrophin gene: potential and pitfalls.

Janssen B, Hartmann C, Scholz V, Jauch A, Zschocke J.

Neurogenetics. 2005 Feb;6(1):29-35. Epub 2005 Jan 18.

PMID:
15655674
18.

Molecular characterization of an X(p21.2;q28) chromosomal inversion in a Duchenne muscular dystrophy patient with mental retardation reveals a novel long non-coding gene on Xq28.

Tran TH, Zhang Z, Yagi M, Lee T, Awano H, Nishida A, Okinaga T, Takeshima Y, Matsuo M.

J Hum Genet. 2013 Jan;58(1):33-9. doi: 10.1038/jhg.2012.131. Epub 2012 Dec 6.

PMID:
23223008
19.

[Detection of genomic duplications and deletions of the DMD gene in affected males and female carriers by using mutiplex ligation-dependent probe amplification].

Shen BC, Zhang C, Sun XF, Zhang HM, Li SY.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2007 Aug;24(4):460-3. Chinese.

PMID:
17680544
20.

A case with concurrent duplication, triplication, and uniparental isodisomy at 1q42.12-qter supporting microhomology-mediated break-induced replication model for replicative rearrangements.

Kohmoto T, Okamoto N, Naruto T, Murata C, Ouchi Y, Fujita N, Inagaki H, Satomura S, Okamoto N, Saito M, Masuda K, Kurahashi H, Imoto I.

Mol Cytogenet. 2017 Apr 28;10:15. doi: 10.1186/s13039-017-0316-6. eCollection 2017.

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