-
3
-
-
0027509953
-
DNA deletion associated with hereditary neuropathy with liability to pressure palsies
-
(1993)
Cell
, vol.72
, pp. 143-151
-
-
Chance, P.F.1
Alderson, M.K.2
Leppig, K.A.3
Lensch, M.W.4
Matsunami, N.5
Smith, B.6
Swanson, P.D.7
Odelberg, S.J.8
Disteche, C.M.9
Bird, T.D.10
-
5
-
-
0002619120
-
Normalized southern hybridization to enhance testing for Charcot-Marie-Tooth disease, type 1A
-
(1996)
Mol Diagn
, vol.1
, pp. 65-71
-
-
Chen, K.L.1
Wang, Y.L.2
Dodson, L.A.3
Rennert, H.4
Mochan, B.S.5
Wilson, R.6
Kant, J.A.7
-
13
-
-
0027108731
-
De novo mutation in hereditary motor and sensory neuropathy type I
-
(1992)
Lancet
, vol.339
, pp. 1081-1082
-
-
Hoogendijk, J.E.1
Hensels, G.W.2
Gabreels Festen, A.A.3
Gabreels, F.J.4
Janssen, E.A.5
De Jonghe, P.6
Martin, J.J.7
Van Broeckhoven, C.8
Valentijn, L.J.9
Baas, F.10
-
14
-
-
0027195911
-
Allelic heterogeneity in hereditary motor and sensory neuropathy type Ia (Charcot-Marie-Tooth disease type 1A)
-
(1993)
Neurology
, vol.43
, pp. 1010-1015
-
-
Hoogendijk, J.E.1
Janssen, E.A.2
Gabreels Festen, A.A.3
Hensels, G.W.4
Joosten, E.M.5
Gabreels, F.J.6
Zorn, I.7
Valentijn, L.J.8
Baas, F.9
Ongerboer De Visser, B.W.10
-
15
-
-
0030939745
-
Facilitated diagnosis of CMT1A duplication in chromosome 17p11.2-12: Analysis with a CMT1A-REP repeat probe and photostimulated luminescence imaging
-
(1997)
Hum Mutat
, vol.9
, pp. 563-566
-
-
Ikegami, T.1
Ikeda, H.2
Chance, P.F.3
Kiyosawa, H.4
Yamamoto, M.5
Sobue, G.6
Ohnishi, A.7
Tachi, N.8
Hayasaka, K.9
-
16
-
-
0032798819
-
TaqMan PCR-based gene dosage assay for predictive testing in individuals from a cancer family with INK4 locus haploinsufficiency
-
(1999)
Clin Chem
, vol.45
, pp. 982-986
-
-
Laurendeau, I.1
Bahuau, M.2
Vodovar, N.3
Larramendy, C.4
Olivi, M.5
Bieche, I.6
Vidaud, M.7
Vidaud, D.8
-
21
-
-
0025868571
-
DNA duplication associated with charcot-Marie-Tooth disease type 1A
-
(1991)
Cell
, vol.66
, pp. 219-232
-
-
Lupski, J.R.1
De Oca Luna, R.M.2
Slaugenhaupt, S.3
Pentao, L.4
Guzzetta, V.5
Trask, B.J.6
Saucedo Cardenas, O.7
Barker, D.F.8
Killian, J.M.9
Garcia, C.A.10
-
24
-
-
0029863589
-
Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: A European collaborative study
-
(1996)
Eur J Hum Genet
, vol.4
, pp. 25-33
-
-
Nelis, E.1
Van Broeckhoven, C.2
De Jonghe, P.3
Lofgren, A.4
Vandenberghe, A.5
Latour, P.6
Le Guern, E.7
Brice, A.8
Mostacciuolo, M.L.9
Schiavon, F.10
Palau, F.11
Bort, S.12
Upadhyaya, M.13
Rocchi, M.14
Archidiacono, N.15
Mandich, P.16
Bellone, E.17
Silander, K.18
Savontaus, M.L.19
Navon, R.20
Goldberg Stern, H.21
Estivill, X.22
Volpini, V.23
Friedl, W.24
Gal, A.25
more..
-
29
-
-
0025997898
-
Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a)
-
The HMSN Collaborative Research Group
-
(1991)
Neuromuscul Disord
, vol.1
, pp. 93-97
-
-
Raeymaekers, P.1
Timmerman, V.2
Nelis, E.3
De Jonghe, P.4
Hoogendijk, J.E.5
Baas, F.6
Barker, D.F.7
Martin, J.J.8
De Visser, M.9
Bolhuis, P.A.10
-
31
-
-
13344249760
-
Duplication of the PMP22 gene in 17p partial trisomy patients with Charcot-Marie-Tooth type-1 neuropathy
-
(1996)
Hum Genet
, vol.97
, pp. 642-649
-
-
Roa, B.B.1
Greenberg, F.2
Gunaratne, P.3
Sauer, C.M.4
Lubinsky, M.S.5
Kozma, C.6
Meck, J.M.7
Magenis, R.E.8
Shaffer, L.G.9
Lupski, J.R.10
-
33
-
-
0016266593
-
Genetic and clinical aspects of Charcot-Marie-Tooth's disease
-
(1974)
Clin Genet
, vol.6
, pp. 98-118
-
-
Skre, H.1
-
34
-
-
0032789279
-
Novel PCR-based diagnostic tools for Charcot-Marie-Tooth type 1A and hereditary neuropathy with liability to pressure palsies
-
(1999)
J Peripher Nerv Syst
, vol.4
, pp. 117-122
-
-
Stronach, E.A.1
Clark, C.2
Bell, C.3
Lofgren, A.4
McKay, N.G.5
Timmerman, V.6
Van Broeckhoven, C.7
Haites, N.E.8
-
35
-
-
0026879615
-
The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication
-
(erratum in Nat Genet 1992 2:84)
-
(1992)
Nat Genet
, vol.1
, pp. 171-175
-
-
Timmerman, V.1
Nelis, E.2
Van Hul, W.3
Nieuwenhuijsen, B.W.4
Chen, K.L.5
Wang, S.6
Ben Othman, K.7
Cullen, B.8
Leach, R.J.9
Hanemann, C.O.10
-
36
-
-
13344260003
-
Molecular genetic analysis of the 17p11.2 region in patients with hereditary neuropathy with liability to pressure palsies (HNPP)
-
(1996)
Hum Genet
, vol.97
, pp. 26-34
-
-
Timmerman, V.1
Lofgren, A.2
Le Guern, E.3
Liang, P.4
De Jonghe, P.5
Martin, J.J.6
Verhalle, D.7
Robberecht, W.8
Gouider, R.9
Brice, A.10
Van Broeckhoven, C.11
-
37
-
-
0025976006
-
Localization of Charcot-Marie-Tooth disease type 1a (CMT1A) to chromosome 17p11.2
-
(1991)
Genomics
, vol.9
, pp. 623-628
-
-
Vance, J.M.1
Barker, D.2
Yamaoka, L.H.3
Stajich, J.M.4
Loprest, L.5
Hung, W.Y.6
Fischbeck, K.7
Roses, A.D.8
Pericak-Vance, M.A.9
-
38
-
-
6844249444
-
Clustering of CMT1A duplication breakpoints in a 700-bp interval of the CMT1A-REP repeat
-
(1998)
Human Mutat
, vol.11
, pp. 109-113
-
-
Yamamoto, M.1
Keller, M.P.2
Yasuda, T.3
Hayasaka, K.4
Ohnishi, A.5
Yoshikawa, H.6
Yanagihara, T.7
Mitsuma, T.8
Chance, P.F.9
Sobue, G.10
-
39
-
-
0344973033
-
PCR-based strategy for the diagnosis of hereditary neuropathy with liability to pressure palsies and Charcot-Marie-Tooth disease type 1A
-
(1998)
Neurology
, vol.50
, pp. 760-763
-
-
Young, P.1
Stogbauer, F.2
Wiebusch, H.3
Lofgren, A.4
Timmerman, V.5
Van Broeckhoven, C.6
Ringelstein, E.B.7
Assmann, G.8
Funke, H.9
|