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4. Analysis of the DNA duplication 17p11.2 in Charcot-Marie-Tooth neuropathy type 1 pedigrees: additional evidence for a third autosomal CMT1 locus. Chance PF; Matsunami N; Lensch W; Smith B; Bird TD Neurology; 1992 Oct; 42(10):2037-41. PubMed ID: 1407588 [TBL] [Abstract][Full Text] [Related]
5. 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 Am J Hum Genet; 1993 Oct; 53(4):853-63. PubMed ID: 8105684 [TBL] [Abstract][Full Text] [Related]
6. Duplication within chromosome 17p11.2 in 12 families of French ancestry with Charcot-Marie-Tooth disease type 1a. The French CMT Research Group. Brice A; Ravisé N; Stevanin G; Gugenheim M; Bouche P; Penet C; Agid Y J Med Genet; 1992 Nov; 29(11):807-12. PubMed ID: 1453432 [TBL] [Abstract][Full Text] [Related]
7. [The diagnosis and prevalence of locus CMT1A duplication in Charcot-Marie-Tooth disease type 1]. Bort S; Sevilla T; Vílchez JJ; Prieto F; Palau F Med Clin (Barc); 1995 May; 104(17):648-52. PubMed ID: 7623491 [TBL] [Abstract][Full Text] [Related]
8. 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]
9. Molecular genetics and neuropathology of Charcot-Marie-Tooth disease type 1A. Lupski JR; Garcia CA Brain Pathol; 1992 Oct; 2(4):337-49. PubMed ID: 1341967 [TBL] [Abstract][Full Text] [Related]
10. Non-radioactive detection of 17p11.2 duplication in CMT1A: a study of 78 patients. Schiavon F; Mostacciuolo ML; Saad F; Merlini L; Siciliano G; Angelini C; Danieli GA J Med Genet; 1994 Nov; 31(11):880-3. PubMed ID: 7853375 [TBL] [Abstract][Full Text] [Related]
11. Clinical and genetic heterogeneity of Charcot-Marie-Tooth disease. Hentati A; Lamy C; Melki J; Zuber M; Munnich A; de Recondo J Genomics; 1992 Jan; 12(1):155-7. PubMed ID: 1733853 [TBL] [Abstract][Full Text] [Related]
13. Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). The HMSN Collaborative Research Group. Raeymaekers P; Timmerman V; Nelis E; De Jonghe P; Hoogendijk JE; Baas F; Barker DF; Martin JJ; De Visser M; Bolhuis PA Neuromuscul Disord; 1991; 1(2):93-7. PubMed ID: 1822787 [TBL] [Abstract][Full Text] [Related]
14. Molecular basis of Charcot-Marie-Tooth disease type 1A: gene dosage as a novel mechanism for a common autosomal dominant condition. Roa BB; Lupski JR Am J Med Sci; 1993 Sep; 306(3):177-84. PubMed ID: 8128981 [TBL] [Abstract][Full Text] [Related]
15. Assignment of the Charcot-Marie-Tooth neuropathy type 1 (CMT 1a) gene to 17p11.2-p12. Timmerman V; Raeymaekers P; De Jonghe P; De Winter G; Swerts L; Jacobs K; Gheuens J; Martin JJ; Vandenberghe A; Van Broeckhoven C Am J Hum Genet; 1990 Oct; 47(4):680-5. PubMed ID: 2220808 [TBL] [Abstract][Full Text] [Related]
16. Charcot-Marie-Tooth disease in northern Sweden: pedigree analysis and the presence of the duplication in chromosome 17p11.2. Holmberg BH; Holmgren G; Nelis E; van Broeckhoven C; Westerberg B J Med Genet; 1994 Jun; 31(6):435-41. PubMed ID: 8071969 [TBL] [Abstract][Full Text] [Related]
17. Linkage and mutation analysis of Charcot-Marie-Tooth neuropathy type 2 families with chromosomes 1p35-p36 and Xq13. Timmerman V; De Jonghe P; Spoelders P; Simokovic S; Löfgren A; Nelis E; Vance J; Martin JJ; Van Broeckhoven C Neurology; 1996 May; 46(5):1311-8. PubMed ID: 8628473 [TBL] [Abstract][Full Text] [Related]
19. 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 Clin Genet; 1994 Oct; 46(4):291-4. PubMed ID: 7834893 [TBL] [Abstract][Full Text] [Related]
20. Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). HMSN Collaborative Research Group. Raeymaekers P; Timmerman V; Nelis E; Van Hul W; De Jonghe P; Martin JJ; Van Broeckhoven C J Med Genet; 1992 Jan; 29(1):5-11. PubMed ID: 1552545 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]