231 related articles for article (PubMed ID: 8557256)
1. 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]
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. 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]
4. 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]
5. Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP): reliable detection of the CMT1A duplication and HNPP deletion using 8 microsatellite markers in 2 multiplex PCRs.
Seeman P; Mazanec R; Zidar J; Hrusáková S; Ctvrtecková M; Rautenstrauss B
Int J Mol Med; 2000 Oct; 6(4):421-6. PubMed ID: 10998431
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Charcot-Marie-Tooth disease and related inherited neuropathies.
Murakami T; Garcia CA; Reiter LT; Lupski JR
Medicine (Baltimore); 1996 Sep; 75(5):233-50. PubMed ID: 8862346
[TBL] [Abstract][Full Text] [Related]
8. 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]
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
J Peripher Nerv Syst; 1999; 4(2):117-22. PubMed ID: 10442687
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Effectiveness of real-time quantitative PCR compare to repeat PCR for the diagnosis of Charcot-Marie-Tooth Type 1A and hereditary neuropathy with liability to pressure palsies.
Choi JR; Lee WH; Sunwoo IN; Lee EK; Lee CH; Lim JB
Yonsei Med J; 2005 Jun; 46(3):347-52. PubMed ID: 15988805
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. DNA deletion associated with hereditary neuropathy with liability to pressure palsies.
Chance PF; Alderson MK; Leppig KA; Lensch MW; Matsunami N; Smith B; Swanson PD; Odelberg SJ; Disteche CM; Bird TD
Cell; 1993 Jan; 72(1):143-51. PubMed ID: 8422677
[TBL] [Abstract][Full Text] [Related]
14. Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies: a SacI polymorphism in the proximal CMT1A-REP elements may lead to genetic misdiagnosis.
Fuchs C; Liehr T; Ozbey S; Ekici A; Grehl H; Rautenstrauss B
Neurogenetics; 1998 Dec; 2(1):43-6. PubMed ID: 9933299
[TBL] [Abstract][Full Text] [Related]
15. Locations of crossover breakpoints within the CMT1A-REP repeat in Japanese patients with CMT1A and HNPP.
Yamamoto M; Yasuda T; Hayasaka K; Ohnishi A; Yoshikawa H; Yanagihara T; Ikegami T; Yamamoto T; Ohashi H; Nishimura T; Mitsuma T; Kiyosawa H; Chance PF; Sobue G
Hum Genet; 1997 Feb; 99(2):151-4. PubMed ID: 9048912
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Allele-specific all-or-none PCR product diagnostic strategy for Charcot-Marie-Tooth 1A and hereditary neuropathy with liability to pressure palsies.
Lin KP; Chou CH; Lee HY; Soong BW
J Chin Med Assoc; 2006 Feb; 69(2):68-73. PubMed ID: 16570573
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. A new quantitative PCR multiplex assay for rapid analysis of chromosome 17p11.2-12 duplications and deletions leading to HMSN/HNPP.
Thiel CT; Kraus C; Rauch A; Ekici AB; Rautenstrauss B; Reis A
Eur J Hum Genet; 2003 Feb; 11(2):170-8. PubMed ID: 12634865
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
