Similar articles for PMID: 8500795

Year	Number of Results
1990	2
1991	8
1992	15
1993	11
1994	7
1995	8
1996	12
1997	13
1998	6
1999	7
2000	4
2001	7
2003	2
2004	1
2005	3
2006	3
2007	2
2008	4
2009	1
2010	2
2011	1
2014	4
2015	2
2018	1
2020	2
2024	0

1

Charcot-Marie-tooth disease 1A (CMT1A) associated with a maternal duplication of chromosome 17p11.2-->12.

Upadhyaya M, Roberts SH, Farnham J, MacMillan JC, Clarke A, Heath JP, Hodges IC, Harper PS. Upadhyaya M, et al. Hum Genet. 1993 May;91(4):392-4. doi: 10.1007/BF00217365. Hum Genet. 1993. PMID: 8500795

2

Charcot-Marie-Tooth disease type 1A: the parental origin of a de novo 17p11.2-p12 duplication.

Hertz JM, Børglum AD, Brandt CA, Flint T, Bisgaard C. Hertz JM, et al. Clin Genet. 1994 Oct;46(4):291-4. doi: 10.1111/j.1399-0004.1994.tb04162.x. Clin Genet. 1994. PMID: 7834893

3

The duplication in Charcot-Marie-Tooth disease type 1a spans at least 1100 kb on chromosome 17p11.2.

Hoogendijk JE, Hensels GW, Zorn I, Valentijn L, Janssen EA, de Visser M, Barker DF, Ongerboer de Visser BW, Baas F, Bolhuis PA. Hoogendijk JE, et al. Hum Genet. 1991 Dec;88(2):215-8. doi: 10.1007/BF00206075. Hum Genet. 1991. PMID: 1721895

4

Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication.

Wise CA, Garcia CA, Davis SN, Heju Z, Pentao L, Patel PI, Lupski JR. Wise CA, et al. Am J Hum Genet. 1993 Oct;53(4):853-63. Am J Hum Genet. 1993. PMID: 8105684 Free PMC article.

5

Comparison of different techniques for detecting 17p12 duplication in CMT1A.

Patitucci A, Muglia M, Magariello A, Gabriele AL, Peluso G, Sprovieri T, Conforti FL, Mazzei R, Ungaro C, Condino F, Valentino P, Bono F, Rodolico C, Mazzeo A, Toscano A, Vita G, Quattrone A. Patitucci A, et al. Neuromuscul Disord. 2005 Jul;15(7):488-92. doi: 10.1016/j.nmd.2005.04.006. Neuromuscul Disord. 2005. PMID: 15941660

6

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

7

Mosaicism for the Charcot-Marie-Tooth disease type 1A duplication suggests somatic reversion.

Liehr T, Rautenstrauss B, Grehl H, Bathke KD, Ekici A, Rauch A, Rott HD. Liehr T, et al. Hum Genet. 1996 Jul;98(1):22-8. doi: 10.1007/s004390050154. Hum Genet. 1996. PMID: 8682501

8

Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A by multicolor in situ hybridization.

Lebo RV, Martelli L, Su Y, Li L, Lynch E, Mansfield E, Pua KH, Watson DF, Chueh J, Hurko O. Lebo RV, et al. Am J Med Genet. 1993 Sep 1;47(3):441-50. doi: 10.1002/ajmg.1320470334. Am J Med Genet. 1993. PMID: 8135298

9

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.

10

Is the duplication present in all family members affected with Charcot-Marie-Tooth neuropathy type 1 A?

Ionăşescu V, Ionăşescu G, Searby C, Barker DF. Ionăşescu V, et al. Rom J Neurol Psychiatry. 1993 Jul-Dec;31(3-4):179-87. Rom J Neurol Psychiatry. 1993. PMID: 8011481

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