162 related articles for article (PubMed ID: 10514240)
1. Atypical phenotype of charcot-marie-tooth disease type 1A.
Murakami T; Oomori H; Hara A; Uyama E; Mita S; Uchino M
Muscle Nerve; 1999 Nov; 22(11):1593-6. PubMed ID: 10514240
[TBL] [Abstract][Full Text] [Related]
2. Peripheral myelin protein 22 gene duplication with atypical presentations: a new example of the wide spectrum of Charcot-Marie-Tooth 1A disease.
Mathis S; Corcia P; Tazir M; Camu W; Magdelaine C; Latour P; Biberon J; Guennoc AM; Richard L; Magy L; Funalot B; Vallat JM
Neuromuscul Disord; 2014 Jun; 24(6):524-8. PubMed ID: 24792522
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. [A sporadic case of Charcot-Marie-Tooth disease type 1 A associated with a duplication in chromosome 17 p11.2-p12].
Inoue M; Kojima M; Aikoh H; Sugai K; Murakami N; Nonaka I; Hayasaka K; Yamamoto M; Sobue G
No To Hattatsu; 1999 Sep; 31(5):452-7. PubMed ID: 10487071
[TBL] [Abstract][Full Text] [Related]
5. Charcot-Marie-Tooth disease type 1A duplication by PCR analysis.
Tachi N; Kozuka N; Ohya K; Chiba S
Pediatr Neurol; 1999 May; 20(5):360-3. PubMed ID: 10371381
[TBL] [Abstract][Full Text] [Related]
6. Charcot-Marie-Tooth disease type 1A: a family study with microsatellites.
Qu Y; Carpenter NJ; Whetsell L; Smith SP; Say B
J Okla State Med Assoc; 1996 Nov; 89(11):395-9. PubMed ID: 8972170
[TBL] [Abstract][Full Text] [Related]
7. Severe phenotypes in a Charcot-Marie-Tooth 1A patient with PMP22 triplication.
Kim SM; Lee J; Yoon BR; Kim YJ; Choi BO; Chung KW
J Hum Genet; 2015 Feb; 60(2):103-6. PubMed ID: 25500726
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. Charcot-Marie-Tooth neuropathy type 1A with both duplication and non-duplication.
Ionasescu VV; Ionasescu R; Searby C; Barker DF
Hum Mol Genet; 1993 Apr; 2(4):405-10. PubMed ID: 8099303
[TBL] [Abstract][Full Text] [Related]
11. Quantitative fluorescence-polymerase chain reaction assay for the detection of the duplication of the Charcot Marie Tooth disease type 1A critical region.
De Toffol S; Bellone E; Dulcetti F; Ruggeri AM; Maggio PP; Pulimeno MR; Mandich P; Maggi F; Simoni G; Grati FR
Genet Test Mol Biomarkers; 2010 Apr; 14(2):225-31. PubMed ID: 20187762
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Facioscapulohumeral muscular dystrophy and Charcot-Marie-Tooth neuropathy 1A - evidence for "double trouble" overlapping syndromes.
Schreiber O; Schneiderat P; Kress W; Rautenstrauss B; Senderek J; Schoser B; Walter MC
BMC Med Genet; 2013 Sep; 14():92. PubMed ID: 24041033
[TBL] [Abstract][Full Text] [Related]
14. Rapid detection of a recombinant hotspot associated with Charcot-Marie-Tooth disease type IA duplication by a PCR-based DNA test.
Chang JG; Jong YJ; Wang WP; Wang JC; Hu CJ; Lo MC; Chang CP
Clin Chem; 1998 Feb; 44(2):270-4. PubMed ID: 9474023
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. Charcot-Marie-Tooth disease type 1A with 17p11.2 duplication. Clinical and electrophysiological phenotype study and factors influencing disease severity in 119 cases.
Birouk N; Gouider R; Le Guern E; Gugenheim M; Tardieu S; Maisonobe T; Le Forestier N; Agid Y; Brice A; Bouche P
Brain; 1997 May; 120 ( Pt 5)():813-23. PubMed ID: 9183252
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Genetic testing practices for Charcot-Marie-Tooth type 1A disease.
Tousignant R; Trepanier A; Shy ME; Siskind CE
Muscle Nerve; 2014 Apr; 49(4):478-82. PubMed ID: 23963961
[TBL] [Abstract][Full Text] [Related]
20. Rapid detection of duplication/deletion of the PMP22 gene in patients with Charcot-Marie-Tooth disease Type 1A and hereditary neuropathy with liability to pressure palsy by real-time quantitative PCR using SYBR Green I dye.
Kim SW; Lee KS; Jin HS; Lee TM; Koo SK; Lee YJ; Jung SC
J Korean Med Sci; 2003 Oct; 18(5):727-32. PubMed ID: 14555828
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
