Similar articles for PMID: 1303282

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1982	1
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1

Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit.

Pentao L, Wise CA, Chinault AC, Patel PI, Lupski JR. Pentao L, et al. Nat Genet. 1992 Dec;2(4):292-300. doi: 10.1038/ng1292-292. Nat Genet. 1992. PMID: 1303282

2

The Charcot-Marie-Tooth binary repeat contains a gene transcribed from the opposite strand of a partially duplicated region of the COX10 gene.

Kennerson ML, Nassif NT, Dawkins JL, DeKroon RM, Yang JG, Nicholson GA. Kennerson ML, et al. Genomics. 1997 Nov 15;46(1):61-9. doi: 10.1006/geno.1997.5012. Genomics. 1997. PMID: 9403059

3

Facilitated diagnosis of CMT1A duplication in chromosome 17p11.2-12: analysis with a CMT1A-REP repeat probe and photostimulated luminescence imaging.

Ikegami T, Ikeda H, Chance PF, Kiyosawa H, Yamamoto M, Sobue G, Ohnishi A, Tachi N, Hayasaka K. Ikegami T, et al. Hum Mutat. 1997;9(6):563-6. doi: 10.1002/(SICI)1098-1004(1997)9:6<563::AID-HUMU10>3.0.CO;2-0. Hum Mutat. 1997. PMID: 9195231

4

Prenatal detection of a 17p11.2 duplication resulting from a rare recombination event and novel PCR-based strategy for molecular identification of Charcot-Marie-Tooth disease type 1A.

Bernard R, Labelle V, Negre P, Tardieu S, Azulay JP, Malzac P, Mattéi JF, Leguern E, Philip N, Lévy N. Bernard R, et al. Eur J Hum Genet. 2000 Mar;8(3):229-35. doi: 10.1038/sj.ejhg.5200433. Eur J Hum Genet. 2000. PMID: 10780790

5

Peripheral myelin protein-22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot-Marie-Tooth 1A.

Matsunami N, Smith B, Ballard L, Lensch MW, Robertson M, Albertsen H, Hanemann CO, Müller HW, Bird TD, White R, et al. Matsunami N, et al. Nat Genet. 1992 Jun;1(3):176-9. doi: 10.1038/ng0692-176. Nat Genet. 1992. PMID: 1303231

6

Isolation of novel genes from the CMT1A duplication/HNPP deletion critical region in 17p11.2-p12.

Murakami T, Sun ZS, Lee CC, Lupski JR. Murakami T, et al. Genomics. 1997 Jan 1;39(1):99-103. doi: 10.1006/geno.1996.4461. Genomics. 1997. PMID: 9027492

7

The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A.

Valentijn LJ, Bolhuis PA, Zorn I, Hoogendijk JE, van den Bosch N, Hensels GW, Stanton VP Jr, Housman DE, Fischbeck KH, Ross DA, et al. Valentijn LJ, et al. Nat Genet. 1992 Jun;1(3):166-70. doi: 10.1038/ng0692-166. Nat Genet. 1992. PMID: 1303229

8

Recombination hot spot in a 3.2-kb region of the Charcot-Marie-Tooth type 1A repeat sequences: new tools for molecular diagnosis of hereditary neuropathy with liability to pressure palsies and of Charcot-Marie-Tooth type 1A. French CMT Collaborative Research Group.

Lopes J, LeGuern E, Gouider R, Tardieu S, Abbas N, Birouk N, Gugenheim M, Bouche P, Agid Y, Brice A. Lopes J, et al. Am J Hum Genet. 1996 Jun;58(6):1223-30. Am J Hum Genet. 1996. PMID: 8651299 Free PMC article.

9

Novel PCR-based diagnostic tools for Charcot-Marie-Tooth type 1A and hereditary neuropathy with liability to pressure palsies.

Stronach EA, Clark C, Bell C, Löfgren A, McKay NG, Timmerman V, Van Broeckhoven C, Haites NE. Stronach EA, et al. J Peripher Nerv Syst. 1999;4(2):117-22. J Peripher Nerv Syst. 1999. PMID: 10442687

10

Charcot-Marie-Tooth disease type 1A: molecular mechanisms of gene dosage and point mutation underlying a common inherited peripheral neuropathy.

Roa BB, Garcia CA, Lupski JR. Roa BB, et al. Int J Neurol. 1991-1992;25-26:97-107. Int J Neurol. 1991. PMID: 11980069 Review.

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