| 1 | CDRT4, CMT1A, HNPP, PMP22, TEKT3
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| Distal enhancers upstream of the Charcot-Marie-Tooth type 1A disease gene PMP22.
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| Jones EA, Brewer MH, Srinivasan R, Krueger C, Sun G, Charney KN, Keles S, Antonellis A, Svaren J.
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| Hum Mol Genet 21(7):1581-91. doi: 10.1093/hmg/ddr595. Epub 2011 Dec 15.
2012
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| 2 | HNPP, PMP22
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| Variable phenotypes are associated with PMP22 missense mutations.
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| Russo M, Laurá M, Polke JM, Davis MB, Blake J, Brandner S, Hughes RA, Houlden H, Bennett DL, Lunn MP, Reilly MM.
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| Neuromuscul Disord 21(2):106-14. Epub 2010 Dec 30.
2011
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| 3 | 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.
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| Am J Hum Genet 86(6):892-903. Epub 2010 May 20.PMID: 20493460 [ 2010
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| 4 | HNPP, PMP22
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| Stoichiometric alteration of PMP22 protein determines the phenotype of hereditary neuropathy with liability to pressure palsies.
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| Li J, Ghandour K, Radovanovic D, Shy RR, Krajewski KM, Shy ME, Nicholson GA.
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| Arch Neurol 64(7):974-8. Erratum in: Arch Neurol. 2007 Oct;64(10):1547. Radovanovic, Danuijola [corrected to Radovanovic, Danijela].
2007
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| 5 | CMT1A, HNPP
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| Charcot-Marie-Tooth disease and related hereditary polyneuropathies: molecular diagnostics determine aspects of medical management.
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| Szigeti K, Garcia CA, Lupski JR.
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| Genet Med 8(2):86-92. 2006
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| 6 | HNPP
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| Neuropathic scapuloperoneal syndrome (Davidenkow's syndrome) with chromosome 17p11.2 deletion.
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| Verma A.
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| Muscle Nerve 32(5):668-71. 2005
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| 7 | HNPP
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| A novel PMP22 mutation Ser22Phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes.
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| Kleopa KA, Georgiou DM, Nicolaou P, Koutsou P, Papathanasiou E, Kyriakides T, Christodoulou K.
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| Neurogenetics 5(3):171-5. Epub 2004 Jun 17. 2004
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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 | HNPP
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| Hereditary neuropathy with liability to pressure palsies: the first publication (1947).
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| Koehler PJ.
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| Neurology 60(7):1211-3. 2003
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| 10 | HNPP
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| Hereditary neuropathy with liability to pressure palsies in a toddler.
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| Hardon WJ, Van Alfen N, Zwarts MJ, Rotteveel JJ.
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| Neurology 59(12):2008. No abstract available. 2002
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| 11 | HNPP
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| Hereditary neuropathy with liability to pressure palsies emerging during vincristine treatment.
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| Kalfakis N, Panas M, Karadima G, Floroskufi P, Kokolakis N, Vassilopoulos D.
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| Neurology 59(9):1470-1. No abstract available. 2002
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| 12 | 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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| 13 | HNPP, PMP22
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| Hereditary neuropathy with liability to pressure palsies: two cases with a reciprocal translocation t(16;17)(q12;11.2) interrupting the PMP22 gene.
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| Nadal M, Valiente A, Domenech A, Pritchard M, Estivill X, Ramos-Arroyo MA.
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| J Med Genet 37(5):396-8. No abstract available. 2000
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| 14 | HNPP, PMP22
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| DNA rearrangements on both homologues of chromosome 17 in a mildly delayed individual with a family history of autosomal dominant carpal tunnel syndrome.
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| Potocki L, et al.
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| Am J Hum Genet 64(2):471-8. 1999
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| 15 | 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.
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| Lopes J, et al.
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| Hum Mol Genet 8(12):2285-2292 1999
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| 16 | CMT1A, HNPP
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| Molecular mechanisms for CMT1A duplication and HNPP deletion.
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| 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, 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.
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| 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.
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| Hum Mol Genet 7(1):141-8. 1998
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| 18 | CMT1AREPC, CMT1AREPT, HNPP
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| Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion patients.
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| Reiter LT, et al.
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| Am J Hum Genet 62 : 1023-1033. 1998
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| 19 | HNPP, PMP22
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| Recurrent brachial plexus palsies as the only clinical expression of hereditary neuropathy with liability to pressure palsies associated with a de novo deletion of the peripheral myelin protein-22 gene.
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| Stogbauer F, Young P, Kerschensteiner M, Ringelstein EB, Assmann G, Funke H.
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| Muscle Nerve 21 : 1199-1201. 1998
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| 20 | CMT1A, HNPP, CMT1AREPC, CMT1AREPT
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| Locations of crossover breakpoints within the CMT1A-REP, repeat in Japanese patients with CMT1A and HNPP.
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| Yamamoto M, et al.
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| Hum Genet 99 : 151-154. 1997
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| 21 | 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.
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| Haupt A, Schols L, Przuntek H, Epplen JT.
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| Hum Genet 99(5):688-91. 1997
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| 22 | HNPP
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| Recurrent polyradiculoneuropathy with the 17p11.2 deletion.
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| Le Forestier N, LeGuern E, Coullin P, Birouk N, Maisonobe T, Brice A, Leger JM, Bouche P.
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| Muscle Nerve 20(9):1184-6. 1997
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| 23 | CMT1A, HNPP
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| Sex-dependent rearrangements resulting in CMT1A and HNPP.
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| Lopes J, Vandenberghe A, Tardieu S, Ionasescu V, Levy N, Wood N, Tachi N, Bouche P, Latour P, Brice A, LeGuern E.
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| Nat Genet 17(2):136-7. No abstract available. 1997
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| 24 | CMT1A, HNPP, PMP22
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| The phenotypic manifestations of chromosome 17p11.2 duplication.
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| Thomas PK, et al.
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| Brain 120 : 465-478. 1997
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| 25 | PMP22, HNPP
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| Molecular genetic analysis of the 17p11.2 region in patients with hereditary neuropathy with liability to pressure palsies (HNPP).
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| Timmerman V, et al.
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| Hum Genet 97 : 26-34. 1996
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| 26 | HNPP
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| A De novo case of hereditary neuropathy with liability to pressure palsies (HNPP) of maternal origin : a new mechanism for deletion in 17p11.2?
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| LeGuern E, et al.
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| Hum Mol Genet 5 : 103-106. 1996
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| 27 | CMT1A, HNPP, PMP22
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| 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.
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| LeGuern E, et al.
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| Cytogenet Cell Genet 72 : 20-25. 1996
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| 28 | CMT1A, HNPP
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| 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.
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| Lopes J, et al.
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| Am J Hum Genet 58 : 1223-1230. 1996
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| 29 | CMT1A, HNPP, PMP22, CMT1E
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| Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies : a European collaborative study.
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| Nelis E, et al.
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| Eur J Hum Genet 4 : 25-33. 1996
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| 30 | CMT1A, HNPP, PMP22
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| Peripheral myelin protein-22 gene deletion in two unrelated Japanese pedigrees with hereditary neuropathy with liability to pressure palsies.
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| Kaneko S, et al.
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| Muscle Nerve 19 : 675-676. 1996
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| 31 | CMT1B, CMT3A, HNPP, MPZ
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| Clinical phenotypes of different MPZ (Po) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination.
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| Warner LE, et al.
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| Neuron 17 : 451-460. 1996
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| 32 | HNPP, PMP22
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| Hereditary neuropathy with liability to pressure palsies and inherited brachial plexus neuropathy - two genetically distinct disorders.
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| Windebank AJ, et al.
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| Mayo Clin Proc 70 : 743-746. 1995
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| 33 | CMT1A, HNPP, PMP22
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| Asian hereditary neuropathy patients with peripheral myelin protein-22 gene aneuploidy.
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| Ohnishi A, et al.
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| Am J Med Genet 59 : 51-58. 1995
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| 34 | PMP22, HNPP
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| DNA analysis as a tool to confirm the diagnosis of asymptomatic hereditary neuropathy with liability to pressure palsies (HNPP) with further evidence for the occurrence of De novo mutations.
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| Gonnaud PM, et al.
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| Acta Neurol Scand 92 : 313-318. 1995
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| 35 | CMT1A, HNPP, PMP22
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| Analysis of the CMT1A-REP repeat : mapping crossover breakpoints in CMT1A and HNPP.
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| Kiyosawa H, et al.
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| Hum Mol Genet 4 : 2327-2334. 1995
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| 36 | HNPP, PMP22
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| Deletion in chromosome 17p11.2 including the peripheral myelin protein-22 (PMP-22) gene in hereditary neuropathy with liability to pressure palsies.
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| Umehara F, et al.
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| J Neurol Sci 133 : 173-176. 1995
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| 37 | CMT1A, HNPP
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| Constant rearrangement of the CMT1A-REP sequences in HNPP patients with a deletion in chromosome 17p11.2 : a study of 30 unrelated cases.
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| LeGuern E, et al.
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| Hum Mol Genet 4 : 1673-1674. 1995
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| 38 | HNPP, PMP22
|
| A 1.5-Mb deletion in 17p11.2-p12 is frequently observed in Italian families with hereditary neuropathy with liability to pressure palsies.
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| Lorenzetti D, et al.
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| Am J Hum Genet 56 : 91-98. 1995
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| 39 | HNPP, PMP22
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| Detection of deletion within 17p11.2 in 7 French families with hereditary neuropathy with liability to pressure palsies (HNPP).
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| Le Guern E, et al.
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| Cytogenet Cell Genet 65 : 261-264. 1994
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| 40 | HNPP
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| Evidence for genetic heterogeneity underlying hereditary neuropathy with liability to pressure palsies.
|
| Mariman ECM, et al.
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| Hum Genet 93 : 151-156. 1994
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| 41 | HNPP, CMT1A
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| Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17.
|
| Chance PF, et al.
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| Hum Mol Genet 3 : 223-228. 1994
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| 42 | CMT1A, CMT1B, HNPP
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| Genetic basis of inherited peripheral neuropathies.
|
| Suter U, et al.
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| Hum Mutat 3 : 95-102. 1994
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| 43 | PMP22, HNPP
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| A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies.
|
| Nicholson GA, et al.
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| Nat Genet 6 : 263-266. 1994
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| 44 | HNPP, PMP22, CMT1A
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| Deletion in the CMT1A locus on chromosome 17p11.2 in hereditary neuropathy with liability to pressure palsies.
|
| Verhalle D, et al.
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| Ann Neurol 35 : 704-708. 1994
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| 45 | PMP22, HNPP
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| Prevalence of the 1.5-Mb 17p deletion in families with hereditary neuropathy with liability to pressure palsies.
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| Mariman ECM, et al.
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| Ann Neurol 36 : 650-655. 1994
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| 46 | HNPP
|
| Gene for hereditary neuropathy with liability to pressure palsies (HNPP) maps to chromosome 17 at or close to the locus for HMSN type 1.
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| Mariman ECM, et al.
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| Hum Genet 92 : 87-90. 1993
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| 47 | HNPP, PMP22, CMT1A
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| DNA deletion associated with hereditary neuropathy with liability to pressure palsies.
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| Chance PF, et al.
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| Cell 72 : 143-151. 1993
|