188 related articles for article (PubMed ID: 8589720)
1. A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element.
Reiter LT; Murakami T; Koeuth T; Pentao L; Muzny DM; Gibbs RA; Lupski JR
Nat Genet; 1996 Mar; 12(3):288-97. PubMed ID: 8589720
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. 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]
5. 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
Genomics; 1997 Nov; 46(1):61-9. PubMed ID: 9403059
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. 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]
9. 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]
10. Diagnosis of CMT1A duplications and HNPP deletions by interphase FISH: implications for testing in the cytogenetics laboratory.
Shaffer LG; Kennedy GM; Spikes AS; Lupski JR
Am J Med Genet; 1997 Mar; 69(3):325-31. PubMed ID: 9096765
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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
Hum Mutat; 1997; 9(6):563-6. PubMed ID: 9195231
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. [Locations of crossover breakpoints within the CMT 1 A-REP repeat in patients with hereditary neuropathy with liability to pressure palsy--detection by recombinant chromosome-specific polymerase chain reaction].
Yamamoto M; Yasuda T; Mitsuma T; Obara K; Tachi N; Sobue G
No To Shinkei; 1997 May; 49(5):443-7. PubMed ID: 9163757
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. 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]
18. 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; Housman DE; Fischbeck KH; Ross DA
Nat Genet; 1992 Jun; 1(3):166-70. PubMed ID: 1303229
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Molecular mechanisms for CMT1A duplication and HNPP deletion.
Boerkoel CF; Inoue K; Reiter LT; Warner LE; Lupski JR
Ann N Y Acad Sci; 1999 Sep; 883():22-35. PubMed ID: 10586226
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]