-
1
-
-
0001215716
-
Inherited recurrent focal neuropathies
-
Dyck, P.J., Thomas, P.K., Griffin, J.W., Low, P.A., Poduslo, J.F. (eds), Hereditary Motor and Sensory Neuropathies, Saunders, Philadelphia
-
Windebank, A.J. (1993) Inherited recurrent focal neuropathies. In Dyck, P.J., Thomas, P.K., Griffin, J.W., Low, P.A., Poduslo, J.F. (eds), Peripheral Neuropathy 3rd edn, Hereditary Motor and Sensory Neuropathies, Saunders, Philadelphia, pp. 1094-1136.
-
(1993)
Peripheral Neuropathy 3rd Edn
, pp. 1094-1136
-
-
Windebank, A.J.1
-
2
-
-
0029399637
-
Clinical, electrophysiological and molecular correlations in 13 families with hereditary neuropathy with liability to pressure palsies and a chromosome 17p11.2 deletion
-
in press
-
Gouider, R., LeGuern, E., Gugenheim, M., Tardieu, S., Maisonobe, T., Léger, J M., Vallat, J.M., Agid, Y., Bouche, P. and Brice, A. (1995) Clinical, electrophysiological and molecular correlations in 13 families with hereditary neuropathy with liability to pressure palsies and a chromosome 17p11.2 deletion. Neurology, in press.
-
(1995)
Neurology
-
-
Gouider, R.1
LeGuern, E.2
Gugenheim, M.3
Tardieu, S.4
Maisonobe, T.5
Léger, J.M.6
Vallat, J.M.7
Agid, Y.8
Bouche, P.9
Brice, A.10
-
3
-
-
0027509953
-
DNA deletion associated with hereditary neuropathy with liability to pressure palsies
-
Chance, P.F., Alderson, M.K., Leppig, K.A., Lensch, M.W., Matsunami, N., Smith, B., Swanson, P.D., Odelberg, S.J., Distsche, C.M., Bird, T.D. (1993) DNA deletion associated with hereditary neuropathy with liability to pressure palsies. Cell. 72, 143-151.
-
(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
Distsche, C.M.9
Bird, T.D.10
-
4
-
-
0027976968
-
Detection of deletion within 17p11.2 in 7 French families with hereditary neuropathy with liability to pressure palsies (HNPP)
-
LeGuern, E., Sturtz, F., Gugenheim, M., Gouider, R., Bonnebouche, C., Ravisé, N., Gonnaud, P.-M., Tardieu, S., Bouche, P., Chazot, G., Agid, Y., Vandenberghe, A. and Brice, A. (1994) Detection of deletion within 17p11.2 in 7 French families with hereditary neuropathy with liability to pressure palsies (HNPP). Cytogenet. Cell Genet., 65, 261-264.
-
(1994)
Cytogenet. Cell Genet.
, vol.65
, pp. 261-264
-
-
LeGuern, E.1
Sturtz, F.2
Gugenheim, M.3
Gouider, R.4
Bonnebouche, C.5
Ravisé, N.6
Gonnaud, P.-M.7
Tardieu, S.8
Bouche, P.9
Chazot, G.10
Agid, Y.11
Vandenberghe, A.12
Brice, A.13
-
5
-
-
0025997898
-
Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a)
-
Raeymaekers, P., Timmerman, V., Nelis, E., De Jonghe, P., Hoogendijk, J.E., Baas, F., Bakker., D.F., Martin, J.J., De Visser, M., Bolhuis, P.A., Van Broeckhoven, C. and the HMSN Collaborative Research Group (1991) Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). Neuromusc. Disord., 1, 93-97.
-
(1991)
Neuromusc. 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
Bakker, D.F.7
Martin, J.J.8
De Visser, M.9
Bolhuis, P.A.10
Van Broeckhoven, C.11
-
6
-
-
0025868571
-
DNA duplication associated with Charcot-Marie-Tooth disease type 1A
-
Lupski, J.R., Montes de Oca-Luna, R., Slaugenhaupt, S., Killian, J.M. Garcia, C.A., Chakravarti, A. and Patel, P.I. (1991) DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell, 66, 219-232.
-
(1991)
Cell
, vol.66
, pp. 219-232
-
-
Lupski, J.R.1
Montes De Oca-Luna, R.2
Slaugenhaupt, S.3
Killian, J.M.4
Garcia, C.A.5
Chakravarti, A.6
Patel, P.I.7
-
7
-
-
0026564694
-
Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth type 1a (CMT1a)
-
Raeymaekers, P., Timmerman, V., Nelis, E., Van Hul, W., De Jonghe, P., Martin, J.-J., De Visser, M., Bolhuis, P.A., Van Broeckhoven, C. and the HMSN collaborative research group (1992). Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth type 1a (CMT1a). J Med. Genet , 29, 5-11.
-
(1992)
J Med. Genet
, vol.29
, pp. 5-11
-
-
Raeymaekers, P.1
Timmerman, V.2
Nelis, E.3
Van Hul, W.4
De Jonghe, P.5
Martin, J.-J.6
De Visser, M.7
Bolhuis, P.A.8
Van Broeckhoven, C.9
-
8
-
-
0026440372
-
Duplication within chromosome 17p11.2 in 12 families of French ancestry with Charcot-Marie-Tooth disease type 1a
-
Brice, A., Ravisé, N., Stevanin, G., Gugenheim, M., Bouche, P., Penet, C., Agid, Y. and the French CMT Research Group (1992) Duplication within chromosome 17p11.2 in 12 families of French ancestry with Charcot-Marie-Tooth disease type 1a. J. Med. Genet., 29, 807-812.
-
(1992)
J. Med. Genet.
, vol.29
, pp. 807-812
-
-
Brice, A.1
Ravisé, N.2
Stevanin, G.3
Gugenheim, M.4
Bouche, P.5
Penet, C.6
Agid, Y.7
-
9
-
-
0027017033
-
Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit
-
Pentao, L., Wise, C.A., Chinault, A.C., Patel, P.L. and Lupski, J.R. (1992) Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit. Nature Genet., 2, 292-300
-
(1992)
Nature Genet.
, vol.2
, pp. 292-300
-
-
Pentao, L.1
Wise, C.A.2
Chinault, A.C.3
Patel, P.L.4
Lupski, J.R.5
-
10
-
-
0027972378
-
Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17
-
Chance, P.F., Abbas, N., Lensch, N.W., Pentao, L., Roa, B.B., Patel, P.L. and Lupski, J.R. (1994) Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17 Hum. Mol. Genet., 3, 223-228.
-
(1994)
Hum. Mol. Genet.
, vol.3
, pp. 223-228
-
-
Chance, P.F.1
Abbas, N.2
Lensch, N.W.3
Pentao, L.4
Roa, B.B.5
Patel, P.L.6
Lupski, J.R.7
-
11
-
-
0028018240
-
Prevalence of the 1.5 Mb deletion in families with hereditary neuropathy with liability to pressure palsies
-
Mariman, E.C., Gabreëls-Festen, A.A., van Beersum, S.E., Valentijn, L.J., Baas, F., Bolhuis, P.A., Jongen, P.J., Ropers, H.H. and Gabreëls, F.J. (1994) Prevalence of the 1.5 Mb deletion in families with hereditary neuropathy with liability to pressure palsies. Ann. Neurol., 36, 650-655.
-
(1994)
Ann. Neurol.
, vol.36
, pp. 650-655
-
-
Mariman, E.C.1
Gabreëls-Festen, A.A.2
Van Beersum, S.E.3
Valentijn, L.J.4
Baas, F.5
Bolhuis, P.A.6
Jongen, P.J.7
Ropers, H.H.8
Gabreëls, F.J.9
-
12
-
-
0028217870
-
Deletion in the CMT1A locus on chromosome 17p11 2 in hereditary neuropathy with liability to pressure palsies
-
Verhalle D., Lofgren, A., Nelis, E., Dehaene, I., Theys, P., Lammens, M., Dom, R., Van Broeckhoven, C. and Robberecht, W. (1994) Deletion in the CMT1A locus on chromosome 17p11 2 in hereditary neuropathy with liability to pressure palsies. Ann. Neurol., 35, 704-708.
-
(1994)
Ann. Neurol.
, vol.35
, pp. 704-708
-
-
Verhalle, D.1
Lofgren, A.2
Nelis, E.3
Dehaene, I.4
Theys, P.5
Lammens, M.6
Dom, R.7
Van Broeckhoven, C.8
Robberecht, W.9
-
13
-
-
0028285133
-
Sporadic form of hereditary neuropathy with liability to pressure palsies: Clinical, electrodiagnostic, and molecular genetic findings
-
Reisecker, R., Leblhuber, F., Lexner, R., Radner, G., Rosenkranz, W. and Wagner, K.A. (1994) Sporadic form of hereditary neuropathy with liability to pressure palsies: clinical, electrodiagnostic, and molecular genetic findings. Neurology, 44, 753-755.
-
(1994)
Neurology
, vol.44
, pp. 753-755
-
-
Reisecker, R.1
Leblhuber, F.2
Lexner, R.3
Radner, G.4
Rosenkranz, W.5
Wagner, K.A.6
-
14
-
-
0027759563
-
Origin of the de novo duplication in Charcot-Marie-Tooth disease type 1A: Unequal nonsister chromatid exchange during spermatogenesis
-
Palau, F., Lofgren, A., De Jonghe, P., Bort, S., Nelis, E., Sevilla, T., Martin, J.-J., Vilchez, J., Prieto, F. and Van Broeckhoven, C. (1993) Origin of the de novo duplication in Charcot-Marie-Tooth disease type 1A: unequal nonsister chromatid exchange during spermatogenesis. Hum. Mol. Genet., 2, 2031-2035.
-
(1993)
Hum. Mol. Genet.
, vol.2
, pp. 2031-2035
-
-
Palau, F.1
Lofgren, A.2
De Jonghe, P.3
Bort, S.4
Nelis, E.5
Sevilla, T.6
Martin, J.-J.7
Vilchez, J.8
Prieto, F.9
Van Broeckhoven, C.10
-
15
-
-
0027374931
-
Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMT1A duplication
-
Wise, C.A., Garcia, C.A., Davis, S.N., Heju, Z., Pentao, L., Patel, P.I. and Lupski, J.R. (1993) Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMT1A duplication. Am. J. Hum. Genet., 53, 853-853.
-
(1993)
Am. J. Hum. Genet.
, vol.53
, pp. 853-853
-
-
Wise, C.A.1
Garcia, C.A.2
Davis, S.N.3
Heju, Z.4
Pentao, L.5
Patel, P.I.6
Lupski, J.R.7
-
16
-
-
0028956945
-
Assignment of microsatellite sequences to the region duplicated in CMT1A (17p12): A useful tool for diagnosis
-
Cudrey, C., Chevillard, C., Le Paslier, D., Vignal, A., Passage, E. and Fontes, M. (1995) Assignment of microsatellite sequences to the region duplicated in CMT1A (17p12): a useful tool for diagnosis. J. Med. Genet., 32, 231-233 .
-
(1995)
J. Med. Genet.
, vol.32
, pp. 231-233
-
-
Cudrey, C.1
Chevillard, C.2
Le Paslier, D.3
Vignal, A.4
Passage, E.5
Fontes, M.6
-
17
-
-
9044241414
-
Microsatellite mapping of the deletion in patients with hereditary neuropathy with liability to pressure palsies (HNPP): New molecular tools for the study of the 17p11-p12 region and for diagnosis
-
in press
-
LeGuern, E., Ravisé, N., Gouider, R., Gugenheim, M., Lopes, J., Bouche, P., Agid, Y and Brice, A. (1995) Microsatellite mapping of the deletion in patients with hereditary neuropathy with liability to pressure palsies (HNPP): new molecular tools for the study of the 17p11-p12 region and for diagnosis. Cytogenet. Cell Genet., in press.
-
(1995)
Cytogenet. Cell Genet.
-
-
LeGuern, E.1
Ravisé, N.2
Gouider, R.3
Gugenheim, M.4
Lopes, J.5
Bouche, P.6
Agid, Y.7
Brice, A.8
-
18
-
-
0028872907
-
A 1.5 Mb deletion in 17p11.2-p12 is frequently observed in Italian families with hereditary neuropathy with liability to pressure palsies
-
Lorenzetti, D., Pareyson, D., Sghirlanzoni, A., Roa, B.R., Abbas, N., Pandolfo, M., Di Donato, S. and Lupski, J. (1995). A 1.5 Mb deletion in 17p11.2-p12 is frequently observed in Italian families with hereditary neuropathy with liability to pressure palsies. Am. J. Hum. Genet., 56, 91-98.
-
(1995)
Am. J. Hum. Genet.
, vol.56
, pp. 91-98
-
-
Lorenzetti, D.1
Pareyson, D.2
Sghirlanzoni, A.3
Roa, B.R.4
Abbas, N.5
Pandolfo, M.6
Di Donato, S.7
Lupski, J.8
-
19
-
-
0029120562
-
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., Gouider, R., Lopes, J., Abbas, N., Gugenheim, M., Tardieu, S., Ravisé, N., Léger, J.-M., Vallat, J.-M., Bouche, P., Agid, Y., Brice, A and the French CMT collaborative Research Group (1995) Constant rearrangement of the CMT1A-REP sequences in HNPP patients with a deletion in chromosome 17p11.2: a study of 30 unrelated cases. Hum. Mol. Genet., 4, 1673-1674.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 1673-1674
-
-
LeGuern, E.1
Gouider, R.2
Lopes, J.3
Abbas, N.4
Gugenheim, M.5
Tardieu, S.6
Ravisé, N.7
Léger, J.-M.8
Vallat, J.-M.9
Bouche, P.10
Agid, Y.11
Brice, A.12
-
20
-
-
0023215586
-
A partial deletion of the muscular dystrophy gene transmitted twice by an unaffected male
-
Darras, T.D. and Francke, U. (1987) A partial deletion of the muscular dystrophy gene transmitted twice by an unaffected male. Nature, 329, 556-558.
-
(1987)
Nature
, vol.329
, pp. 556-558
-
-
Darras, T.D.1
Francke, U.2
-
21
-
-
8044223652
-
Analysis of chromosome breakage mechanisms in Prader-Willi and Angelman syndromes
-
Goettlieb, W., Rogan, P.K., Driscoll, D.J. and Nicholls, R.D. (1993) Analysis of chromosome breakage mechanisms in Prader-Willi and Angelman syndromes. Am. J. Hum. Genet., 53 (suppl), A553.
-
(1993)
Am. J. Hum. Genet.
, vol.53
, Issue.SUPPL.
-
-
Goettlieb, W.1
Rogan, P.K.2
Driscoll, D.J.3
Nicholls, R.D.4
-
22
-
-
0028002936
-
Recombination model for generation of a submicroscopic deletion in familial Angelman syndrome
-
Nicholls, R.D. (1994) Recombination model for generation of a submicroscopic deletion in familial Angelman syndrome Hum. Mol. Genet., 3, 9-11.
-
(1994)
Hum. Mol. Genet.
, vol.3
, pp. 9-11
-
-
Nicholls, R.D.1
-
23
-
-
0023550028
-
The deletion in both common types of hereditary persistence of fetal hemoglobin is approximately 105 kilobases
-
Collins, F.S., Cole, J.L., Lockwood, W.K., et al. (1987) The deletion in both common types of hereditary persistence of fetal hemoglobin is approximately 105 kilobases Blood, 70, 1797-1803.
-
(1987)
Blood
, vol.70
, pp. 1797-1803
-
-
Collins, F.S.1
Cole, J.L.2
Lockwood, W.K.3
-
24
-
-
0028231090
-
The 1993-1994 Généthon human genetic linkage map
-
Gyapay, G., Morissette, J., Vignal, A., Dib, C., Fizames, C., Millaseau, P., Marc, S., Bernardi, 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
Bernardi, G.8
Lathrop, M.9
Weissenbach, J.10
-
25
-
-
0028157908
-
A third locus for Autosomal Dominant Cerebellar Ataxia type 1 maps to 14q24.3-qter. Evidence for the existence of a fourth
-
Stevanin, G., LeGuern, E., Ravisé, N., Chneiweiss, H., Dürr, A., Cancel, G., Vignal, A., Boch, A.-L., Ruberg, M., Penet, C., Pothin, Y., Haguenau, M., Rancurel, G., Weissenbach, J., Agid, Y. and Brice, A. (1994) A third locus for Autosomal Dominant Cerebellar Ataxia type 1 maps to 14q24.3-qter. Evidence for the existence of a fourth. Am. J. Hum. Genet., 54, 11-20
-
(1994)
Am. J. Hum. Genet.
, vol.54
, pp. 11-20
-
-
Stevanin, G.1
LeGuern, E.2
Ravisé, N.3
Chneiweiss, H.4
Dürr, A.5
Cancel, G.6
Vignal, A.7
Boch, A.-L.8
Ruberg, M.9
Penet, C.10
Pothin, Y.11
Haguenau, M.12
Rancurel, G.13
Weissenbach, J.14
Agid, Y.15
Brice, A.16
|