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Journal Abstract Search
222 related items for PubMed ID: 11185740
1. Non-homologous recombination between Alu and LINE-1 repeats caused a 430-kb deletion in the dystrophin gene: a novel source of genomic instability. Suminaga R, Takeshima Y, Yasuda K, Shiga N, Nakamura H, Matsuo M. J Hum Genet; 2000; 45(6):331-6. PubMed ID: 11185740 [Abstract] [Full Text] [Related]
2. Cloning and sequencing of junction fragment with exons 45-54 deletion of dystrophin gene. Zhong M, Pan SY, Lu BX, Li W. Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2006 Apr; 23(2):138-41. PubMed ID: 16604481 [Abstract] [Full Text] [Related]
8. A novel cryptic exon in intron 3 of the dystrophin gene was incorporated into dystrophin mRNA with a single nucleotide deletion in exon 5. Suminaga R, Takeshima Y, Adachi K, Yagi M, Nakamura H, Matsuo M. J Hum Genet; 2002 Jul; 47(4):196-201. PubMed ID: 12166656 [Abstract] [Full Text] [Related]
9. 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, Nishio H, Kitoh Y, Ishikawa Y, Ishikawa Y, Minami R, Nakamura H, Matsuo M. J Clin Invest; 1993 May; 91(5):1862-7. PubMed ID: 8387534 [Abstract] [Full Text] [Related]
11. Investigating the mechanism of chromosomal deletion: characterization of 39 deletion breakpoints in introns 47 and 48 of the human dystrophin gene. Toffolatti L, Cardazzo B, Nobile C, Danieli GA, Gualandi F, Muntoni F, Abbs S, Zanetti P, Angelini C, Ferlini A, Fanin M, Patarnello T. Genomics; 2002 Nov; 80(5):523-30. PubMed ID: 12408970 [Abstract] [Full Text] [Related]
12. Identification of a novel 4.6-kb genomic deletion in presenilin-1 gene which results in exclusion of exon 9 in a Finnish early onset Alzheimer's disease family: an Alu core sequence-stimulated recombination? Hiltunen M, Helisalmi S, Mannermaa A, Alafuzoff I, Koivisto AM, Lehtovirta M, Pirskanen M, Sulkava R, Verkkoniemi A, Soininen H. Eur J Hum Genet; 2000 Apr; 8(4):259-66. PubMed ID: 10854108 [Abstract] [Full Text] [Related]
13. Genetic diagnosis of Duchenne and Becker muscular dystrophy using next-generation sequencing technology: comprehensive mutational search in a single platform. Lim BC, Lee S, Shin JY, Kim JI, Hwang H, Kim KJ, Hwang YS, Seo JS, Chae JH. J Med Genet; 2011 Nov; 48(11):731-6. PubMed ID: 21969337 [Abstract] [Full Text] [Related]
16. A G-to-A transition at the fifth position of intron-32 of the dystrophin gene inactivates a splice-donor site both in vivo and in vitro. Thi Tran HT, Takeshima Y, Surono A, Yagi M, Wada H, Matsuo M. Mol Genet Metab; 2005 Jul; 85(3):213-9. PubMed ID: 15979033 [Abstract] [Full Text] [Related]
18. Disease-causing mutations improving the branch site and polypyrimidine tract: pseudoexon activation of LINE-2 and antisense Alu lacking the poly(T)-tail. Meili D, Kralovicova J, Zagalak J, Bonafé L, Fiori L, Blau N, Thöny B, Vorechovsky I. Hum Mutat; 2009 May; 30(5):823-31. PubMed ID: 19280650 [Abstract] [Full Text] [Related]
19. Molecular deletion patterns in Duchenne and Becker muscular dystrophy patients from KwaZulu Natal. Hallwirth Pillay KD, Bill PL, Madurai S, Mubaiwa L, Rapiti P. J Neurol Sci; 2007 Jan 15; 252(1):1-3. PubMed ID: 17141273 [Abstract] [Full Text] [Related]
20. 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 15; 54(8):466-73. PubMed ID: 19609279 [Abstract] [Full Text] [Related] Page: [Next] [New Search]