-
1
-
-
0001046663
-
-
Dyck, P.J., Thomas, P.K., Griffin, J.W., Low, P.A. and Poduslo, J.F. (eds) Philadelphia, W.B., Saunders
-
Dyck, P.J., Chance, P., Lebo, R. and Carney, J.A. (1993) In Dyck, P.J., Thomas, P.K., Griffin, J.W., Low, P.A. and Poduslo, J.F. (eds) Hereditary: Motor and Sensory Neuropathies. Philadelphia, W.B., Saunders, 1094-1136.
-
(1993)
Hereditary: Motor and Sensory Neuropathies
, pp. 1094-1136
-
-
Dyck, P.J.1
Chance, P.2
Lebo, R.3
Carney, J.A.4
-
2
-
-
0025997898
-
Duplication in chromosome 17p 11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT1a)
-
Rayemaekers, P., Timmerman, V., Nelis, E., De Jonghe, P., Hoogendijk, J.E., Baas, F., Barker, D.F., Martin, J.J., De Visser, M., Bolhuis, P.A., Van Broeckhoven, C. and the HSMN collaborative research group. (1991) Duplication in chromosome 17p 11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). Neuromusc. Dis. 1, 93-97.
-
(1991)
Neuromusc. Dis.
, vol.1
, pp. 93-97
-
-
Rayemaekers, 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
Van Broeckhoven, C.11
-
3
-
-
0025868571
-
DNA duplication associated with Charcot-Marie-Tooth disease type IA
-
Lupski, J.R., Montes de Oca-Luna, R., Slaugenhaupt, S., Pentao, L., Guzzetta, V., Trask, B.J., Saucedo-Cardenas, O., Barker, D.F., Killian, J.M., Garcia, C.A., Chakravarti, A. and Patel, P.I. (1991) DNA duplication associated with Charcot-Marie-Tooth disease type IA. Cell 56, 219-232.
-
(1991)
Cell
, vol.56
, pp. 219-232
-
-
Lupski, J.R.1
Montes De Oca-Luna, R.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
Chakravarti, A.11
Patel, P.I.12
-
4
-
-
0027317609
-
Localization of a gene (CMT2A) for autosomal dominant Charcol-Marie-Tooth disease type 2 to chromosome 1p and evidence of genetic heterogeneity
-
T.
-
Ben Othmane, K., Middleton, L., T., Loprest, L.J., Wilkinson, K.M., Lennon, F., Rozear, M.P., Tajich, J.M., Gaskell, P.C., Roses, A.D., Pericak-Vance, M.A. and Vance, J. (1993) Localization of a gene (CMT2A) for autosomal dominant Charcol-Marie-Tooth disease type 2 to chromosome 1p and evidence of genetic heterogeneity. Genomics 17, 370-375.
-
(1993)
Genomics
, vol.17
, pp. 370-375
-
-
Ben Othmane, K.1
Middleton, L.2
Loprest, L.J.3
Wilkinson, K.M.4
Lennon, F.5
Rozear, M.P.6
Tajich, J.M.7
Gaskell, P.C.8
Roses, A.D.9
Pericak-Vance, M.A.10
Vance, J.11
-
5
-
-
0029150128
-
Assignment of a second Charcot-Marie-Tooth type II locus to chromosome 3q
-
Kwon, J.M., Elliott, J.L., Yee, W.Y., Ivanovich, J., Scavarda, N.J., Moolsinton, P.J. and Goodfellow, P.J. (1995) Assignment of a second Charcot-Marie-Tooth type II locus to chromosome 3q. Am. J. Hum. Genet. 57, 853-858.
-
(1995)
Am. J. Hum. Genet.
, vol.57
, pp. 853-858
-
-
Kwon, J.M.1
Elliott, J.L.2
Yee, W.Y.3
Ivanovich, J.4
Scavarda, N.J.5
Moolsinton, P.J.6
Goodfellow, P.J.7
-
6
-
-
0027502993
-
Linkage localization of X-linked Charcot-Marie-Tooth disease
-
Bergoffen, J.A., Trofatter, J., Pericak-Vance, M.A., Haines, J.L., Chance, P.F. and Fischbeck, K.H. (1993) Linkage localization of X-linked Charcot-Marie-Tooth disease. Am. J. Hum. Genet. 52, 312-318.
-
(1993)
Am. J. Hum. Genet.
, vol.52
, pp. 312-318
-
-
Bergoffen, J.A.1
Trofatter, J.2
Pericak-Vance, M.A.3
Haines, J.L.4
Chance, P.F.5
Fischbeck, K.H.6
-
7
-
-
0027491703
-
Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q
-
Ben Othmane, K.B., Hentati, F., Lennon, F., Ben Hamida, C., Bled, S., Roses, A.D., Pericak-Vance, M.A., Ben Hamida, M. and Vance, J.M. (1993) Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q. Hum. Mol. Genet. 2, 1625-1628.
-
(1993)
Hum. Mol. Genet.
, vol.2
, pp. 1625-1628
-
-
Ben Othmane, K.B.1
Hentati, F.2
Lennon, F.3
Ben Hamida, C.4
Bled, S.5
Roses, A.D.6
Pericak-Vance, M.A.7
Ben Hamida, M.8
Vance, J.M.9
-
8
-
-
0029128280
-
Physical and genetic mapping of the CMT4 a locus and exclusion of PMP-2 as the defect in CMT4A
-
Ben Othmane, K.B., Loeb, D., Hayworth-Hodgte, R., Hentati, F., Rao, N., Roses, A.D., Ben Hamida, M., Pericak-Vance, M.A. and Vance, J.M. (1995) Physical and genetic mapping of the CMT4 A locus and exclusion of PMP-2 as the defect in CMT4A. Genomics 28, 286-290.
-
(1995)
Genomics
, vol.28
, pp. 286-290
-
-
Ben Othmane, K.B.1
Loeb, D.2
Hayworth-Hodgte, R.3
Hentati, F.4
Rao, N.5
Roses, A.D.6
Ben Hamida, M.7
Pericak-Vance, M.A.8
Vance, J.M.9
-
9
-
-
0028231090
-
The 1993-1994 Généthon human genetic linkage map
-
Gyapay, G., Morissette, J., Vignal, A., Dib, C., Fizames, C., Millaseau, P., Marc, S., Bemardi, G., Lathrop, M. and Weissenbach, J. (1994) The 1993-1994 Généthon human genetic linkage map. Nature Genet. 7, 246-339.
-
(1994)
Nature Genet.
, vol.7
, pp. 246-339
-
-
Gyapay, G.1
Morissette, J.2
Vignal, A.3
Dib, C.4
Fizames, C.5
Millaseau, P.6
Marc, S.7
Bemardi, G.8
Lathrop, M.9
Weissenbach, J.10
-
10
-
-
0018869302
-
Clinical and pathological features of an autosomal recessive neuropathy
-
Bouldin, T.W., Riley, E., Hall, C.D. and Swift, M. (1980) Clinical and pathological features of an autosomal recessive neuropathy. J. Neurol. Sci. 46, 315-323.
-
(1980)
J. Neurol. Sci.
, vol.46
, pp. 315-323
-
-
Bouldin, T.W.1
Riley, E.2
Hall, C.D.3
Swift, M.4
-
11
-
-
0023127966
-
The hypertrophic forms of hereditary motor and sensory neuropathy
-
Ouvrier, R. A, Mc.Leod, T.E. and Conchin, (1987) The hypertrophic forms of hereditary motor and sensory neuropathy. Brain 110, 121-148.
-
(1987)
Brain
, vol.110
, pp. 121-148
-
-
Ouvrier, R.A.1
Mc.Leod, T.E.2
Conchin3
-
12
-
-
0026761768
-
Autosomal recessive form of hereditary motor and sensory neuropathy type I
-
Gabreëls-Felsten, A.A.W.M., Gabreëls, F.J.M., Jennekens, F.G.I., Joosten, E.M.G. and Janssen-van Kempen, T.W. (1992) Autosomal recessive form of hereditary motor and sensory neuropathy type I. Neurology 42, 1755-1761.
-
(1992)
Neurology
, vol.42
, pp. 1755-1761
-
-
Gabreëls-Felsten, A.A.W.M.1
Gabreëls, F.J.M.2
Jennekens, F.G.I.3
Joosten, E.M.G.4
Janssen-van Kempen, T.W.5
-
13
-
-
0018817642
-
Autosomal recessive forms of hereditary motor and sensory neuropathy
-
Harding, A.E. and Thomas, P.K. (1980) Autosomal recessive forms of hereditary motor and sensory neuropathy. J. Neurol. Neurosurg. Psychiatry 43, 669-678.
-
(1980)
J. Neurol. Neurosurg. Psychiatry
, vol.43
, pp. 669-678
-
-
Harding, A.E.1
Thomas, P.K.2
-
14
-
-
0028157908
-
A third locus for autosomal dominant cerebellar ataxia type I maps to chromosome 14q 24.3-qter. Evidence for the existence of a fourth locus
-
Stevanin, G., Le Guem, E., Ravise, N., Chneiweiss, H., Dürr, A., Cancel, G., Vignal, A., Boch, A.L., Ruberg, M., Penet, C. et al. (1994) A third locus for autosomal dominant cerebellar ataxia type I maps to chromosome 14q 24.3-qter. Evidence for the existence of a fourth locus. Am. J. Hum. Genet. 54, 11-20.
-
(1994)
Am. J. Hum. Genet.
, vol.54
, pp. 11-20
-
-
Stevanin, G.1
Le Guem, E.2
Ravise, N.3
Chneiweiss, H.4
Dürr, A.5
Cancel, G.6
Vignal, A.7
Boch, A.L.8
Ruberg, M.9
Penet, C.10
-
15
-
-
0021850103
-
Multilocus linkage analysis in humans: Detection of linkage and estimation of recombination
-
Lathrop, G., Lalouel, J., Julier, C. and Ott, J. (1985) Multilocus linkage analysis in humans: detection of linkage and estimation of recombination. Am. J. Hum. Genet. 37, 482-498.
-
(1985)
Am. J. Hum. Genet.
, vol.37
, pp. 482-498
-
-
Lathrop, G.1
Lalouel, J.2
Julier, C.3
Ott, J.4
-
16
-
-
0028260703
-
Avoiding recomputation in genetic linkage analysis
-
Schäffer, A.A., Gupta, S.K. and Cottingham, R.W., Jr (1994) Avoiding recomputation in genetic linkage analysis. Hum. Hered. 44, 225-237.
-
(1994)
Hum. Hered.
, vol.44
, pp. 225-237
-
-
Schäffer, A.A.1
Gupta, S.K.2
Cottingham Jr., R.W.3
|