| 1 | CMT1A, PMP22
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| Mechanism, Prevalence, and More Severe Neuropathy Phenotype of the Charcot-Marie-Tooth Type 1A Triplication.
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| Liu P, Gelowani V, Zhang F, Drory VE, Ben-Shachar S, Roney E, Medeiros AC, Moore RJ, Divincenzo C, Burnette WB, Higgins JJ, Li J, Orr-Urtreger A, Lupski JR.
|
| Am J Hum Genet 94(3):462-9. doi: 10.1016/j.ajhg.2014.01.017. Epub 2014 Feb 13.
2014
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| 2 | CDRT4, CMT1A, HNPP, PMP22, TEKT3
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| Distal enhancers upstream of the Charcot-Marie-Tooth type 1A disease gene PMP22.
|
| Jones EA, Brewer MH, Srinivasan R, Krueger C, Sun G, Charney KN, Keles S, Antonellis A, Svaren J.
|
| Hum Mol Genet 21(7):1581-91. doi: 10.1093/hmg/ddr595. Epub 2011 Dec 15.
2012
|
| 3 | CMT1A
|
| Muscle cramp in pediatric Charcot-Marie-Tooth disease type 1A: prevalence and predictors
|
| Blyton F, Ryan MM, Ouvrier RA, Burns J.
|
| Neurology Dec 13;77(24):2115-8. doi: 10.1212/WNL.0b013e31823d76aa. Epub 2011 Nov 30. 2011
|
| 4 | CMT1A, DUP17P11, DUP17P13
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| Genomic and clinical characteristics of microduplications in chromosome 17.
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| Shchelochkov OA, Cheung SW, Lupski JR.
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| Am J Med Genet A 152A(5):1101-10.PMID: 20425816 2010
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| 5 | CMT1A, HNPP, PMP22
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| Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability.
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| Zhang F, Seeman P, Liu P, Weterman MA, Gonzaga-Jauregui C, Towne CF, Batish SD, De Vriendt E, De Jonghe P, Rautenstrauss B, Krause KH, Khajavi M, Posadka J, Vandenberghe A, Palau F, Van Maldergem L, Baas F, Timmerman V, Lupski JR.
|
| Am J Hum Genet 86(6):892-903. Epub 2010 May 20.PMID: 20493460 [ 2010
|
| 6 | CMT1A, HNPP
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| Charcot-Marie-Tooth disease and related hereditary polyneuropathies: molecular diagnostics determine aspects of medical management.
|
| Szigeti K, Garcia CA, Lupski JR.
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| Genet Med 8(2):86-92. 2006
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| 7 | LITAF, PMP22, CMT1A, CMT1C, CMT1E
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| Early onset neuropathy in a compound form of Charcot-Marie-Tooth disease.
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| Meggouh F, de Visser M, Arts WF, De Coo RI, van Schaik IN, Baas F.
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| Ann Neurol 57(4):589-91. 2005
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| 8 | SMS, DUP17P11, CMT1A, HNPP
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| Comparative genomic hybridisation using a proximal 17p BAC/PAC array detects rearrangements responsible for four genomic disorders.
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| Shaw CJ, Shaw CA, Yu W, Stankiewicz P, White LD, Beaudet AL, Lupski JR.
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| J Med Genet 41(2):113-9. 2004
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| 9 | CMT1A
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| Aggresome formation in neuropathy models based on peripheral myelin protein 22 mutations.
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| Ryan MC, Shooter EM, Notterpek L.
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| Neurobiol Dis 10(2):109-18. 2002
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| 10 | CMT1A, CMT2I, HNPP, MPZ
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| Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.
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| Boerkoel CF, Takashima H, Garcia CA, Olney RK, Johnson J, Berry K, Russo P, Kennedy S, Teebi AS, Scavina M, Williams LL, Mancias P, Butler IJ, Krajewski K, Shy M, Lupski JR.
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| Ann Neurol 51(2):190-201. 2002
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| 11 | CMT1A
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| Dejerine-sottas disease with a novel de novo dominant mutation, Ser 149 Arg, of the peripheral myelin protein 22.
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| Ohnishi A, Yamamoto T, Izawa K, Yamamori S, Takahashi K, Mega H, Jinnai K.
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| Acta Neuropathol (Berl) 99(3):327-30. 2000
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| 12 | CMT1A, PMP22
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| Effects of PMP22 duplication and deletions on the axonal cytoskeleton.
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| Sahenk Z, et al.
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| Ann Neurol 45(1):16-24. 1999
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| 13 | PMP22, CMT1A
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| A unique point mutation in the PMP22 gene is associated with charcot-marie-tooth disease and deafness.
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| Kovach MJ, et al.
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| Am J Hum Genet 64(6):1580-93. 1999
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| 14 | CMT1A, HNPP, PMP22
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| 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, et al.
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| Hum Mol Genet 8(12):2285-2292 1999
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| 15 | CMT1A, PMP22
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| Myelin uncompaction in Charcot-Marie-Tooth neuropathy type 1A with a point mutation of peripheral myelin protein-22.
|
| Fabrizi GM, Cavallaro T, Taioli F, Orrico D, Morbin M, Simonati A, Rizzuto N.
|
| Neurology 53(4):846-51 1999
|
| 16 | CMT1A, HNPP
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| Molecular mechanisms for CMT1A duplication and HNPP deletion.
|
| Boerkoel CF, Inoue K, Reiter LT, Warner LE, Lupski JR.
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| Ann N Y Acad Sci 883:22-35. Review. 1999
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| 17 | CMT1A, DSS1, PMP22
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| Recessive inheritance of a new point mutation of the PMP22 gene in Dejerine-Sottas disease.
|
| Parman Y, Plante-Bordeneuve V, Guiochon-Mantel A, Eraksoy M, Said G.
|
| Ann Neurol 45(4):518-22. 1999
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| 18 | CMT1A, CMT1AREPC, CMT1AREPT, HNPP
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| 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, Ravise N, Vandenberghe A, Palau F, Ionasescu V, Mayer M, Levy N, Wood N, Tachi N, Bouche P, Latour P, Ruberg M, Brice A, LeGuern E.
|
| Hum Mol Genet 7(1):141-8. 1998
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| 19 | CMT1A, CMT1AREPC, CMT1AREPT
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| Clustering of CMT1A duplication breakpoints in a 700 bp interval of the CMT1A-REP repeat.
|
| Yamamoto M, Keller MP, Yasuda T, Hayasaka K, Ohnishi A, Yoshikawa H, Yanagihara T, Mitsuma T, Chance PF, Sobue G.
|
| Hum Mutat 11(2):109-13. 1998
|
| 20 | CMT1A, PMP22
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| Novel mutations of the peripheral myelin protein 22 gene in two pedigrees with Dejerine-Sottas disease.
|
| Ikegami T, et al.
|
| Hum Genet 102 : 294-298. 1998
|
| 21 | CMT1A
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| Pathogenesis of Charcot-Marie-Tooth 1A (CMT1A) neuropathy.
|
| Hanemann CO, et al.
|
| Trends Neurosci 21 : 282-286. 1998
|
| 22 | CMT1A
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| PMP22 Thr(118)Met : recessive CMT1 mutation or polymorphism ?
|
| Nelis E, et al.
|
| Nat Genet 15 : 13-14. 1997
|
| 23 | CMT1A, PMP22
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| Prevalence and parental origin of De novo 1.5-Mb duplication in Charcot-Marie-Tooth disease type 1A.
|
| Bort S, et al.
|
| Am J Hum Genet 60 : 230-233. 1997
|
| 24 | CMT1A, PMP22
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| Dejerine-Sottas neuropathy in mother and son with same point mutation of PMP22 gene.
|
| Ionasescu VV, et al.
|
| Muscle Nerve 20 : 97-99. 1997
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| 25 | CMT1A, CMT1AREPC, CMT1AREPT, COX10, PPARAL, RMSA1L, RPL9P2
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| 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 39 : 99-103. 1997
|
| 26 | CMT1A, HNPP, CMT1AREPC, CMT1AREPT
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| Locations of crossover breakpoints within the CMT1A-REP, repeat in Japanese patients with CMT1A and HNPP.
|
| Yamamoto M, et al.
|
| Hum Genet 99 : 151-154. 1997
|
| 27 | CMT1A, CMT1AREPC, CMT1AREPT, PMP22
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| Detection of the CMT1A/HNPP recombination hotsport in unrelated patients of European descent.
|
| Timmerman V, et al.
|
| J Med Genet 34 : 43-49. 1997
|
| 28 | CMT1A, PMP22
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| Patients homozygous for the 17p11.2 duplication in Charcot-Marie-Tooth type 1A disease.
|
| Leguern E, et al.
|
| Ann Neurol 41 : 104-108. 1997
|
| 29 | CMT1A, HNPP, PMP22
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| Polymorphisms in the PMP-22 gene region (17p11.2-12) are crucial for simplified diagnosis of duplications/deletions.
|
| Haupt A, Schols L, Przuntek H, Epplen JT.
|
| Hum Genet 99(5):688-91. 1997
|
| 30 | CMT1A, PMP22
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| 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 9(6):563-6. 1997
|
| 31 | CMT1A, MPZ
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| Multiple de novo MPZ (P0) point mutations in a sporadic Dejerine-Sottas case.
|
| Warner LE, Shohat M, Shorer Z, Lupski JR.
|
| Hum Mutat 10(1):21-4. 1997
|
| 32 | CMT1A, HNPP
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| Sex-dependent rearrangements resulting in CMT1A and HNPP.
|
| Lopes J, Vandenberghe A, Tardieu S, Ionasescu V, Levy N, Wood N, Tachi N, Bouche P, Latour P, Brice A, LeGuern E.
|
| Nat Genet 17(2):136-7. No abstract available. 1997
|
| 33 | CMT1A, HNPP, PMP22
|
| The phenotypic manifestations of chromosome 17p11.2 duplication.
|
| Thomas PK, et al.
|
| Brain 120 : 465-478. 1997
|
| 34 | CMT1A, PMP22
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| Duplication of the PMP22 gene in 17p partial trisomy patients with Charcot-Marie-Tooth type 1A neuropathy. (abstr)
|
| Roa BB, et al.
|
| Hum Genet 97(5):642-9. 1996
|
| 35 | CMT1A, PMP22
|
| Prevalence and origin of De novo duplications in Charcot-Marie-Tooth disease type 1A : first report of a de novo duplication with a maternal origin.
|
| Blair IP, et al.
|
| Am J Hum Genet 58 : 472-476. 1996
|
| 36 | CMT1A, PMP22
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| A new point mutation affecting the fourth transmembrane domain of PMP22 results in severe, de novo Charcot-Marie-Tooth disease.
|
| Navon R, et al.
|
| Hum Genet 97 : 685-687. 1996
|
| 37 | CMT1A, PMP22
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| Duplication of the PMP22 gene in 17p partial trisomy patients with Charcot-Marie-Tooth type-1A neuropathy.
|
| Roa BB, et al.
|
| Hum Genet 97 : 642-649. 1996
|
| 38 | CMT1A, HNPP, PMP22
|
| Microsatellite mapping of the deletion in patients with hereditary neuropathy with liability to pressure palsies (HNPP) : new molecular tools for the study of the region 17p12-p11 and for diagnosis.
|
| LeGuern E, et al.
|
| Cytogenet Cell Genet 72 : 20-25. 1996
|
| 39 | CMT1A, PMP22
|
| Mosaicism for the Charcot-Marie-Tooth disease type 1A duplication suggests somatic reversion.
|
| Liehr T, et al.
|
| Hum Genet 98 : 22-28. 1996
|
| 40 | CMT1A, HNPP
|
| 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.
|
| Lopes J, et al.
|
| Am J Hum Genet 58 : 1223-1230. 1996
|
| 41 | CMT1A, HNPP, PMP22, CMT1E
|
| Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies : a European collaborative study.
|
| Nelis E, et al.
|
| Eur J Hum Genet 4 : 25-33. 1996
|
| 42 | CMT1A, HNPP, PMP22
|
| Peripheral myelin protein-22 gene deletion in two unrelated Japanese pedigrees with hereditary neuropathy with liability to pressure palsies.
|
| Kaneko S, et al.
|
| Muscle Nerve 19 : 675-676. 1996
|
| 43 | CMT1A
|
| A De novo duplication in 17p11.2 and a novel mutation in the Po gene in two DŽjerine-Sottas syndrome patients.
|
| Silander K, et al.
|
| Hum Mutat 8 : 304-310. 1996
|
| 44 | CMT1A
|
| Absence of PMP22 coding region mutations in CMT1A duplication patients : further evidence supporting gene dosage as a mechanism for Charcot-Marie-Tooth disease type 1A.
|
| Warner LE, et al.
|
| Hum Mutat 8 : 362-365. 1996
|
| 45 | CMT1A, PMP22
|
| Dejerine-Sottas disease with sensorineural hearing loss, nystagmus, and peripheral facial nerve weakness : De novo dominant point mutation of the PMP22 gene.
|
| Ionasescu VV, et al.
|
| J Med Genet 33 : 1048-1049. 1996
|
| 46 | CMT1A, PMP22
|
| A 1.5-Mb cosmid contig of the CMT1A duplication/HNPP deletion critical region in 17p11.2-p12.
|
| Murakami T, et al.
|
| Genomics 34 : 128-133. 1996
|
| 47 | CMT1A, PMP22
|
| DŽjŽrine-Sottas neuropathy is associated with a De novo PMP22 mutation.
|
| Valentijn LJ, et al.
|
| Hum Mutat 5 : 76-80. 1995
|
| 48 | CMT1A, HNPP, PMP22
|
| Asian hereditary neuropathy patients with peripheral myelin protein-22 gene aneuploidy.
|
| Ohnishi A, et al.
|
| Am J Med Genet 59 : 51-58. 1995
|
| 49 | CMT1A, HNPP, PMP22
|
| Analysis of the CMT1A-REP repeat : mapping crossover breakpoints in CMT1A and HNPP.
|
| Kiyosawa H, et al.
|
| Hum Mol Genet 4 : 2327-2334. 1995
|
| 50 | CMT1A, D17S793, D17S839, D17S921, D17S922, D17S955
|
| Assignment of microsatellite sequences to the region duplicated in CMT1A (17p12) : a useful tool for diagnosis.
|
| Cudrey C, et al.
|
| J Med Genet 32 : 231-233. 1995
|
| 51 | CMT1A, HNPP
|
| Constant rearrangement of the CMT1A-REP sequences in HNPP patients with a deletion in chromosome 17p11.2 : a study of 30 unrelated cases.
|
| LeGuern E, et al.
|
| Hum Mol Genet 4 : 1673-1674. 1995
|
| 52 | HNPP, CMT1A
|
| Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17.
|
| Chance PF, et al.
|
| Hum Mol Genet 3 : 223-228. 1994
|
| 53 | CMT1A, CMT1B, HNPP
|
| Genetic basis of inherited peripheral neuropathies.
|
| Suter U, et al.
|
| Hum Mutat 3 : 95-102. 1994
|
| 54 | PMP22, CMT1A
|
| Identification of a 5' splice site mutation in the PMP-22 gene in autosomal dominant Charcot-Marie-Tooth disease type 1.
|
| Nelis E, et al.
|
| Hum Mol Genet 3 : 515-516. 1994
|
| 55 | HNPP, PMP22, CMT1A
|
| Deletion in the CMT1A locus on chromosome 17p11.2 in hereditary neuropathy with liability to pressure palsies.
|
| Verhalle D, et al.
|
| Ann Neurol 35 : 704-708. 1994
|
| 56 | CMT1A
|
| Hereditary motor and sensory neuropathy with calf hypertrophy is associated with 17p11.2 duplication.
|
| Uncini A, et al.
|
| Ann Neurol 35 : 552-558. 1994
|
| 57 | CMT1A
|
| Charcot-Marie-Tooth disease type 1A : the parental origin of a De novo 17p11.2-p12 duplication.
|
| Hertz JM, et al.
|
| Clin Genet 46 : 291-294. 1994
|
| 58 | D17S61, CMT1A
|
| Short report on DNA marker at candidate locus. New allele of probe D17S61 present in the Charcot-Marie-Tooth 1A duplication.
|
| Bost M, et al.
|
| Clin Genet 46 : 380-381. 1994
|
| 59 | CMT1A, PMP22
|
| Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene.
|
| Roa BB, et al.
|
| Nat Genet 5 : 269-273. 1993
|
| 60 | CMT1A
|
| Alternatively sized duplication in Charcot-Marie-Tooth disease type 1A.
|
| Valentijn LJ, et al.
|
| Hum Mol Genet 2 : 2143-2146. 1993
|
| 61 | CMT1A
|
| Origin of the de novo duplication in Charcot-Marie-Tooth disease type 1A : unequal nonsister chromatid exchange during spermatogenesis.
|
| Palau F, et al.
|
| Hum Mol Genet 2 : 2031-2035. 1993
|
| 62 | CMT1A
|
| Molecular basis of Charcot-Marie-Tooth disease type 1A : gene dosage as a novel mechanism for a common autosomal dominant condition.
|
| Roa BB, et al.
|
| Am J Med Sci 306 : 177-184. 1993
|
| 63 | CMT1A
|
| Charcot-Marie-Tooth neuropathy type 1A with both duplication and non-duplication.
|
| Ionasescu VV, et al.
|
| Hum Mol Genet 2 : 405-410. 1993
|
| 64 | CMT1A
|
| Charcot-Marie-Tooth disease 1A (CMT1A) associated with a maternal duplication of chromosome 17p11.2-12.
|
| Upadhyaya M, et al.
|
| Hum Genet 91 : 392-394. 1993
|
| 65 | CMT1A, D17S457, D17S122
|
| Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A by multicolor in situ hybridization.
|
| Lebo RV, et al.
|
| Am J Med Genet 47 : 441-450. 1993
|
| 66 | CMT1A, PMP22
|
| Charcot-Marie-Tooth disease type 1A. Association with a spontaneous point mutation in the PMP22 gene.
|
| Roa BB, et al.
|
| N Engl J Med 329 : 96-101. 1993
|
| 67 | SMS, CMT1A
|
| Relationship between Charcot-Marie-Tooth 1A and Smith-Magenis regions. snU3 may be a candidate gene for the Smith-Magenis syndrome.
|
| Chevillard C, et al.
|
| Hum Mol Genet 2 : 1235-1243. 1993
|
| 68 | CMT1A
|
| Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMT1A duplication.
|
| Wise CA, et al.
|
| Am J Hum Genet 53 : 853-863. 1993
|
| 69 | HNPP, PMP22, CMT1A
|
| DNA deletion associated with hereditary neuropathy with liability to pressure palsies.
|
| Chance PF, et al.
|
| Cell 72 : 143-151. 1993
|
| 70 | CMT1A
|
| Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A.
|
| Lupski JR, et al.
|
| Nat Genet 1 : 29-33. 1992
|
| 71 | CMT1A
|
| Charcot-Marie-Tooth disease type 1a (CMT1a): evidence for trisomy of the region p11.2 of chromosome 17 in South Wales families.
|
| MacMillan JC, et al.
|
| J Med Genet 29 : 12-13. 1992
|
| 72 | CMT1A
|
| Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a).
|
| Raeymaekers P, et al.
|
| J Med Genet 29 : 5-11. 1992
|
| 73 | CMT1A
|
| Multicolor in situ hybridization and linkage analysis order Charcot-Marie-Tooth type I (CMTIA) gene-region markers.
|
| Lebo RV, et al.
|
| Am J Hum Genet 50 : 42-55. 1992
|
| 74 | CMT1A
|
| Trembler mouse carries a point mutation in a myelin gene.
|
| Suter U, et al.
|
| Nature 356 : 241-244. 1992
|
| 75 | CMT1A
|
| De novo mutation in hereditary motor and sensory neuropathy type I.
|
| Hoogendjik JE, et al.
|
| Lancet 339 : 1081-1082. 1992
|
| 76 | CMT1A
|
| The gene for the peripheral myelin protein-PMP-22 is a candidate for Charcot-Marie-Tooth disease type-1A.
|
| Patel PI, et al.
|
| Nat Genet 1 : 159-165. 1992
|
| 77 | CMT1A
|
| The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A.
|
| Valentijn LJ, et al.
|
| Nat Genet 1 : 166-170. 1992
|
| 78 | CMT1A, PMP22
|
| The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication.
|
| Timmerman V, et al.
|
| Nat Genet 1 : 171-175. 1992
|
| 79 | CMT1A, PMP22
|
| Peripheral myelin protein-22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot-Marie-Tooth 1A.
|
| Matsunami N, et al.
|
| Nat Genet 1 : 176-179. 1992
|
| 80 | CMT1A
|
| Duplication 17p11.2p12 as a contiguous gene duplication syndrome.
|
| Greenberg E, et al.
|
| Am J Hum Genet 51 : A12. 1992
|
| 81 | CMT1A
|
| Genetic analysis of CMT1A mutations.
|
| McAlpine PJ, et al.
|
| Am J Hum Genet 51 : A195. 1992
|
| 82 | CMT1A
|
| Charcot-Marie-Tooth disease type 1 (CMT1) in a boy with the cytogenetic duplication 17p11.1-17p12.
|
| Roberts S, et al.
|
| Am J Hum Genet 51 : A225. 1992
|
| 83 | CMT1A
|
| Charcot-Marie-Tooth neuropathy type 1A mutation : apparent crossovers with D17S122 are due to a duplication.
|
| Nicholson GA, et al.
|
| Am J Med Genet 44 : 455-460. 1992
|
| 84 | CMT1A
|
| Duplication within chromosome 17p11.2 in 12 families of French ancestry with Charcot-Marie-Tooth disease type 1a.
|
| Brice A, et al.
|
| J Med Genet 29 : 807-812. 1992
|
| 85 | CMT1A, PMP22
|
| A yeast artificial chromosome contig spanning the Charcot-Marie-Tooth disease type 1A duplication region.
|
| Nieuwenhuijsen BW, et al.
|
| Hum Mol Genet 1 : 605-612. 1992
|
| 86 | CMT1A
|
| Further evidence of a duplication in 17p11.2 in families with recurrence of HMSN Ia (Charcot-Marie-Tooth neuropathy type Ia).
|
| Mźller E, et al.
|
| Hum Genet 90 : 231-234. 1992
|
| 87 | CMT1A, PMP22
|
| Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A.
|
| Valentijn LJ, et al.
|
| Nat Genet 2 : 288-291. 1992
|
| 88 | CMT1A, CMT1AREPC, CMT1AREPT
|
| Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit.
|
| Pentao L, et al.
|
| Nat Genet 2(4):292-300. 1992
|
| 89 | CMT1A
|
| Linkage map of Charcot-Marie-Tooth type I (CMT1A) on the short arm of chromosome 17.
|
| Hallam PJ, et al.
|
| (HGM11) Cytogenet Cell Genet 58 : 2004. 1991
|
| 90 | CMT1A
|
| Linkage mapping of Charcot-Marie-Tooth neuropathy (CMT1a).
|
| Nicholson GA.
|
| (HGM11) Cytogenet Cell Genet 58 : 2008. 1991
|
| 91 | CMT1A
|
| Physical mapping of the 17p chromosomal region: relationship with the Charcot-Marie-Tooth disease.
|
| Piras L, et al.
|
| (HGM11) Cytogenet Cell Genet 58 : 2009. 1991
|
| 92 | CMT1A
|
| The duplication in Charcot-Marie-Tooth disease type 1a spans at least 11OO kb on chromosome 17p11.2.
|
| Hoogendijk JE, et al.
|
| Hum Genet 88 : 215-218. 1991
|
| 93 | CMT1A
|
| Localization of Charcot-Marie-Tooth disease type 1a (CMT1A) to chromosome 17p11.2.
|
| Vance JM, et al.
|
| Genomics 9 : 623-628. 1991
|
| 94 | CMT1A
|
| DNA duplication associated with Charcot-Marie-Tooth disease type 1A.
|
| Lupski JR, de Oca-Luna RM, Slaugenhaupt S, Pentao L, Guzzetta V, Trask BJ,Saucedo-Cardenas O, Barker DF, Killian JM, Garcia CA, et al.
|
| Cell 66(2):219-32. 1991
|
| 95 | CMT1A
|
| Linkage of hereditary motor and sensory neuropathy type I to the pericentromeric region of chromosome 17.
|
| Middleton-Price HR, et al.
|
| Am J Hum Genet 46 : 92-94. 1990
|
| 96 | CMT1A
|
| Genetic mapping of autosomal dominant Charcot-Marie-Tooth disease in a large French-Acadian kindred: identification of new linked markers on chromosome 17.
|
| Patel PI, Franco B, Garcia C, Slaugenhaupt SA, Nakamura Y, Ledbetter DH, Chakravarti A, Lupski JR.
|
| Am J Hum Genet 46(4):801-9. 1990
|
| 97 | CMT1A
|
| Localization of a locus for Charcot-Marie-Tooth neuropathy type Ia (CMT1A) to chromosome 17.
|
| McAlpine PJ, et al.
|
| Genomics 7 : 408-415. 1990
|
| 98 | CMT1A, CMT1B
|
| Linkage studies in Charcot-Marie-Tooth disease type 2 (CMT2): evidence that CMT type 2 and type 1 are distinct genetic entities.
|
| Loprest L, et al.
|
| Am J Hum Genet 47 : A190. 1990
|
| 99 | CMT1A
|
| Assignment of the Charcot-Marie-Tooth neuropathy type I (CMT Ia) gene to 17p11.2-p12.
|
| Timmerman V, et al.
|
| Am J Hum Genet 47 : 680-685. 1990
|
| 100 | CMT1A, CMT1B
|
| Genetic linkage and heterogeneity in type I Charcot-Marie-Tooth disease (hereditary motor and sensory neuropathy type I).
|
| Chance PF, et al.
|
| Am J Hum Genet 47 : 915-925. 1990
|
| 101 | CMT1A
|
| Isolation of a marker linked to the Charcot-Marie-Tooth disease type IA gene by differential Alu-PCR of human chromosome 17-retaining hybrids.
|
| Patel PI, et al.
|
| Am J Hum Genet 47 : 926-934. 1990
|
| 102 | CMT1A, CMT1B
|
| Genetic linkage of hereditary motor and sensory neuropathy type 1 (Charcot-Marie-Tooth disease) to markers of chromosomes 1 and 17.
|
| Defesche JC, et al.
|
| Neurology 40 : 1450-1453. 1990
|
| 103 | CMT1A
|
| Linkage of Charcot-Marie-Tooth neuropathy type 1a to chromosome 17.
|
| Vance JM, et al.
|
| Exp Neurol 104 : 186-189. 1989
|
| 104 | CMT1A
|
| Linkage of the gene for Charcot-Marie-Tooth neuropathy.
|
| Nicholson GA, et al.
|
| (HGM10) Cytogenet Cell Genet 51 : 1052-1053. 1989
|
| 105 | CMT1A, D1S68
|
| Exclusion of Charcot-Marie-Tooth neuropathy to chromosome 1 in a large family.
|
| Raeymaekers P, et al.
|
| (HGM10) Cytogenet Cell Genet 51 : 1062. 1989
|
| 106 | CMT1A
|
| Linkage analysis of Charcot-Marie-Tooth disease and markers from the pericentromeric region of chromosome 17.
|
| Franco B, et al.
|
| Am J Hum Genet 45 : A140. 1989
|
| 107 | CMT1A
|
| Localization of the mutation in an extended family with Charcot-Marie-Tooth neuropathy (HMSN I).
|
| Raeymaekers P, et al.
|
| Am J Hum Genet 45 : 953-958. 1989
|