These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
145 related articles for article (PubMed ID: 9384615)
1. Fine mapping of de novo CMT1A and HNPP rearrangements within CMT1A-REPs evidences two distinct sex-dependent mechanisms and candidate sequences involved in recombination. Lopes J; Ravisé N; Vandenberghe A; Palau F; Ionasescu V; Mayer M; Lévy N; Wood N; Tachi N; Bouche P; Latour P; Ruberg M; Brice A; LeGuern E Hum Mol Genet; 1998 Jan; 7(1):141-8. PubMed ID: 9384615 [TBL] [Abstract][Full Text] [Related]
2. 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 Am J Hum Genet; 1996 Jun; 58(6):1223-30. PubMed ID: 8651299 [TBL] [Abstract][Full Text] [Related]
3. Homologous DNA exchanges in humans can be explained by the yeast double-strand break repair model: a study of 17p11.2 rearrangements associated with CMT1A and HNPP. Lopes J; Tardieu S; Silander K; Blair I; Vandenberghe A; Palau F; Ruberg M; Brice A; LeGuern E Hum Mol Genet; 1999 Nov; 8(12):2285-92. PubMed ID: 10545609 [TBL] [Abstract][Full Text] [Related]
4. The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes. Inoue K; Dewar K; Katsanis N; Reiter LT; Lander ES; Devon KL; Wyman DW; Lupski JR; Birren B Genome Res; 2001 Jun; 11(6):1018-33. PubMed ID: 11381029 [TBL] [Abstract][Full Text] [Related]
5. 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 J Peripher Nerv Syst; 1999; 4(2):117-22. PubMed ID: 10442687 [TBL] [Abstract][Full Text] [Related]
6. Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17. Chance PF; Abbas N; Lensch MW; Pentao L; Roa BB; Patel PI; Lupski JR Hum Mol Genet; 1994 Feb; 3(2):223-8. PubMed ID: 8004087 [TBL] [Abstract][Full Text] [Related]
7. A de novo case of hereditary neuropathy with liability to pressure palsies (HNPP) of maternal origin: a new mechanism for deletion in 17p11.2? LeGuern E; Gouider R; Ravisé N; Lopes J; Tardieu S; Gugenheim M; Abbas N; Bouche P; Agid Y; Brice A Hum Mol Genet; 1996 Jan; 5(1):103-6. PubMed ID: 8789446 [TBL] [Abstract][Full Text] [Related]
8. Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion patients. Reiter LT; Hastings PJ; Nelis E; De Jonghe P; Van Broeckhoven C; Lupski JR Am J Hum Genet; 1998 May; 62(5):1023-33. PubMed ID: 9545397 [TBL] [Abstract][Full Text] [Related]
9. Analysis of the CMT1A-REP repeat: mapping crossover breakpoints in CMT1A and HNPP. Kiyosawa H; Lensch MW; Chance PF Hum Mol Genet; 1995 Dec; 4(12):2327-34. PubMed ID: 8634706 [TBL] [Abstract][Full Text] [Related]
10. Primate origin of the CMT1A-REP repeat and analysis of a putative transposon-associated recombinational hotspot. Kiyosawa H; Chance PF Hum Mol Genet; 1996 Jun; 5(6):745-53. PubMed ID: 8776588 [TBL] [Abstract][Full Text] [Related]
11. 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 Nat Genet; 1992 Dec; 2(4):292-300. PubMed ID: 1303282 [TBL] [Abstract][Full Text] [Related]
12. Molecular genetic analysis of the 17p11.2 region in patients with hereditary neuropathy with liability to pressure palsies (HNPP). Timmerman V; Löfgren A; Le Guern E; Liang P; De Jonghe P; Martin JJ; Verhalle D; Robberecht W; Gouider R; Brice A; Van Broeckhoven C Hum Genet; 1996 Jan; 97(1):26-34. PubMed ID: 8557256 [TBL] [Abstract][Full Text] [Related]
13. 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 Eur J Hum Genet; 2000 Mar; 8(3):229-35. PubMed ID: 10780790 [TBL] [Abstract][Full Text] [Related]
14. Molecular diagnosis of Charcot-Marie-Tooth 1A disease and hereditary neuropathy with liability to pressure palsies by quantifying CMT1A-REP sequences: consequences of recombinations at variant sites on chromosomes 17p11.2-12. Vandenberghe A; Latour P; Chauplannaz G; Chapon F; Pouget J; Dumas R; Laguenay A; Ollagnon E; Bost M; Duthel S; Chazot G; Boucherat M Clin Chem; 1996 Jul; 42(7):1021-5. PubMed ID: 8674184 [TBL] [Abstract][Full Text] [Related]
15. Detection of the CMT1A/HNPP recombination hotspot in unrelated patients of European descent. Timmerman V; Rautenstrauss B; Reiter LT; Koeuth T; Löfgren A; Liehr T; Nelis E; Bathke KD; De Jonghe P; Grehl H; Martin JJ; Lupski JR; Van Broeckhoven C J Med Genet; 1997 Jan; 34(1):43-9. PubMed ID: 9032649 [TBL] [Abstract][Full Text] [Related]
16. Isolation of novel genes from the CMT1A duplication/HNPP deletion critical region in 17p11.2-p12. Murakami T; Sun ZS; Lee CC; Lupski JR Genomics; 1997 Jan; 39(1):99-103. PubMed ID: 9027492 [TBL] [Abstract][Full Text] [Related]
17. A 1.5-Mb deletion in 17p11.2-p12 is frequently observed in Italian families with hereditary neuropathy with liability to pressure palsies. Lorenzetti D; Pareyson D; Sghirlanzoni A; Roa BB; Abbas NE; Pandolfo M; Di Donato S; Lupski JR Am J Hum Genet; 1995 Jan; 56(1):91-8. PubMed ID: 7825607 [TBL] [Abstract][Full Text] [Related]
18. Autosomal dominant Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies: detection of the recombination in Slovene patients and exclusion of the potentially recessive Thr118Met PMP22 point mutation. Leonardis L; Zidar J; Ekici A; Peterlin B; Rautenstrauss B Int J Mol Med; 1998 Feb; 1(2):495-501. PubMed ID: 9852256 [TBL] [Abstract][Full Text] [Related]
19. The human COX10 gene is disrupted during homologous recombination between the 24 kb proximal and distal CMT1A-REPs. Reiter LT; Murakami T; Koeuth T; Gibbs RA; Lupski JR Hum Mol Genet; 1997 Sep; 6(9):1595-603. PubMed ID: 9285799 [TBL] [Abstract][Full Text] [Related]
20. Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion. Potocki L; Chen KS; Park SS; Osterholm DE; Withers MA; Kimonis V; Summers AM; Meschino WS; Anyane-Yeboa K; Kashork CD; Shaffer LG; Lupski JR Nat Genet; 2000 Jan; 24(1):84-7. PubMed ID: 10615134 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]