-
1
-
-
0025719080
-
242 Breakpoints in the 200-kb deletion-prone P20 region of the DMD gene are widely spread
-
Blonden LAJ, Grootscholten PM, Den Dünnen JT, Bakkcr E, Abbs S, Bobrow M, Boehm C, van Broeckhoven C, Baumbach L, Chamberlain J, Caskey CT, Denton M, Felicctti L, Galluzi G, Fisch-beck KH, Francke U, Darras B, Gilgenkrantz H, Kaplan J-C, Herrmann FH, Junien C, Boileau C, Liechti-Gallati S, Lindlöf M, Matsumoto T, Niika-wa N, Müller CR, Poncin J, Malcom S, Robertson E, Romeo G, Covone AE, Scheffcr E, Schröder E, Schwartz M, Vcrellcn C, Walker A, Worton R, Gillard E, van Ommen GJB: 242 Breakpoints in the 200-kb deletion-prone P20 region of the DMD gene are widely spread, Genomics 10:631-639 (1991).
-
(1991)
Genomics
, vol.10
, pp. 631-639
-
-
Blonden, L.1
Grootscholten, P.M.2
Den Dünnen, J.T.3
Bakkcr, E.4
Abbs, S.5
Bobrow, M.6
Boehm, C.7
Van Broeckhoven, C.8
Baumbach, L.9
Chamberlain, J.10
Caskey, C.T.11
Denton, M.12
Felicctti, L.13
Galluzi, G.14
Fisch-Beck, K.H.15
Francke, U.16
Darras, B.17
Gilgenkrantz, H.18
Kaplan, J.-C.19
Herrmann, F.H.20
Junien, C.21
Boileau, C.22
Liechti-Gallati, S.23
Lindlöf, M.24
Matsumoto, T.25
Niika-Wa, N.26
Müller, C.R.27
Poncin, J.28
Malcom, S.29
Robertson, E.30
Romeo, G.31
Covone, A.E.32
Scheffcr, E.33
Schröder, E.34
Schwartz, M.35
Vcrellcn, C.36
Walker, A.37
Worton, R.38
Gillard, E.39
Van Ommen, G.40
more..
-
2
-
-
0027325844
-
Relationship between Char-cot-Marie-Tooth 1A and Smith-Magenis regions: Snill 3 may be a candidate gene for the Smith-.Mage-nis svndrome
-
Chcvillard C, Le Paslier D, Passage E, Ougcn P, Billault A, Boyer S, Mazan S, Bachellerie JP, Vignal A, Cohen D, Fontes M: Relationship between Char-cot-Marie-Tooth 1A and Smith-Magenis regions: snill 3 may be a candidate gene for the Smith-.Mage-nis svndrome, Hum molec Genet 2:1235-1243 (1993).
-
(1993)
Hum Molec Genet
, vol.2
, pp. 1235-1243
-
-
Chcvillard, C.1
Le Paslier, D.2
Passage, E.3
Ougcn, P.4
Billault, A.5
Boyer, S.6
Mazan, S.7
Bachellerie, J.P.8
Vignal, A.9
Cohen, D.10
Fontes, M.11
-
3
-
-
0027509953
-
DNA deletion associated with hereditary neuropathy with liability to pressure palsies
-
Chance PF, Alderson MK, Leppig KA, Lcnsch MW, Matsunami N, Smith B, Swanson PD, Odelberg SJ, Distsche CM, Bird TD: DNA deletion associated with hereditary neuropathy with liability to pressure palsies, Cell 72:143-151 (1993).
-
(1993)
Cell
, vol.72
, pp. 143-151
-
-
Chance, P.F.1
Alderson, M.K.2
Leppig, K.A.3
Lcnsch, 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
-
-
0027972378
-
Two autosomal dominant neuropathies result from reciprocal DNA duplication/ deletion of a region on chromosome 17
-
Chance PF, Abbas N, Lcnsch NW, Pentao L, Roa BB, Patel PI, Lupski JR: Two autosomal dominant neuropathies result from reciprocal DNA duplication/ deletion of a region on chromosome 17, Hum molec Genet 3:223-228 (1994).
-
(1994)
Hum Molec Genet
, vol.3
, pp. 223-228
-
-
Chance, P.F.1
Abbas, N.2
Lcnsch, N.W.3
Pentao, L.4
Roa, B.B.5
Patel, P.I.6
Lupski, J.R.7
-
5
-
-
0028956945
-
Assignment of microsatellite sequences to the region duplicated in CMT1A (17pl 2): A useful tool for diagnosis
-
Cudrey C, Chevillard C, Le Paslier D, Vignal A, Passage E, Fontes M: Assignment of microsatellite sequences to the region duplicated in CMT1A (17pl 2): a useful tool for diagnosis, J med Genet 32:231-233 (1995).
-
(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
-
6
-
-
0028231090
-
-
Gyapay G, Morissette J, Vignal A, Dib C, Fizames C, Millaseau P, Marc S, Bemardi G, Lathrop M, Weissenbach J: The 1993-1994 Genethon human genetic linkage map Nature Genet 7:246-339 (1994).
-
(1994)
The 1993-1994 Genethon Human Genetic Linkage Map 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
-
7
-
-
0029399637
-
Clinical, elcctrophvsiological and molecular correlations in 13 families with hereditary neuropathy with liability to pressure palsies and a chromosome 17pl 1.2 deletion
-
press
-
Gouider R, LeGuem E, Gugenheim M, Tardieu S, Maisonobc T, Líger JM, Vallat JM, Agid Y, Bouche P, Brice A: Clinical, elcctrophvsiological and molecular correlations in 13 families with hereditary neuropathy with liability to pressure palsies and a chromosome 17pl 1.2 deletion, Neurology (1995, in press).
-
(1995)
Neurology
-
-
Gouider, R.1
Leguem, E.2
Gugenheim, M.3
Tardieu, S.4
Maisonobc, T.5
Líger, J.M.6
Vallat, J.M.7
Agid, Y.8
Bouche, P.9
Brice, A.10
-
8
-
-
0024466501
-
The molecular basis for Duchenne versus Becker muscular dystrophy: Correlation of severity with type of deletion
-
Koenig M, Beggs AH, Moyer M, Scherpf S, Hcindrich K, Bettecken T, Meng G, Müller CR, Lindlöf M, Kaariainen H, De La Chapelle A, Kiuri A, Savon-taus ML, Gilgenkrantz H, Recan D, Chellv J, Kaplan J-C, Covone AE, Archidiácono N, Romeo G, Liechti-Gallati S, Schneider V, Braga V, Moser H, Darras BT, Murphy P, Francke U, Chen JD, Morgan G, Denton M, Greenberg CR, Wroge-mann K, Blonden LAJ, Van Paassen HMB, Van Ommen GJB, Kunkel I.M: The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion, Am J hum Genet 45:489-506 (1989).
-
(1989)
Am J Hum Genet
, vol.45
, pp. 489-506
-
-
Koenig, M.1
Beggs, A.H.2
Moyer, M.3
Scherpf, S.4
Hcindrich, K.5
Bettecken, T.6
Meng, G.7
Müller, C.R.8
Lindlöf, M.9
Kaariainen, H.10
De La Chapelle, A.11
Kiuri, A.12
Savon-Taus, M.L.13
Gilgenkrantz, H.14
Recan, D.15
Chellv, J.16
Kaplan, J.-C.17
Covone, A.E.18
Archidiácono, N.19
Romeo, G.20
Liechti-Gallati, S.21
Schneider, V.22
Braga, V.23
Moser, H.24
Darras, B.T.25
Murphy, P.26
Francke, U.27
Chen, J.D.28
Morgan, G.29
Denton, M.30
Greenberg, C.R.31
Wroge-Mann, K.32
Blonden, L.33
Van Paassen, H.34
Van Ommen, G.35
Kunkel, I.M.36
more..
-
9
-
-
0027976968
-
Detection of deletion within 17pl 1.2 in 7 French families with hereditary neuropathy with liability to pressure palsies (HNPP)
-
LeGuem E, Sturz F, Gugenheim M, Gouider R, Bonne-bouche C, Ravisé N, Gonnaud P-M, Tardieu S, Bouche P, Chazot G, Agid Y, Vandenbcrghe A, Brice A: Detection of deletion within 17pl 1.2 in 7 French families with hereditary neuropathy with liability to pressure palsies (HNPP), Cytogenct Cell Genet 65:261-264 (1994).
-
(1994)
Cytogenct Cell Genet
, vol.65
, pp. 261-264
-
-
Leguem, E.1
Sturz, F.2
Gugenheim, M.3
Gouider, R.4
Bonne-Bouche, C.5
Ravisé, N.6
Gonnaud, P.-M.7
Tardieu, S.8
Bouche, P.9
Chazot, G.10
Agid, Y.11
Vandenbcrghe, A.12
Brice, A.13
-
10
-
-
0028872907
-
A 1.5 Mb deletion in 17p 11.2-p 12 is frequently observed in Italian families with hereditary neuropathy with liability to pressure palsies
-
Lorenzetti D, Parcyson D, Sghirianzoni Angelo, Roa BR, Abbas N, Pandolfo M, Di Donato S, Lupski J: A 1.5 Mb deletion in 17p 11.2-p 12 is frequently observed in Italian families with hereditary neuropathy with liability to pressure palsies, Am J hum Genet 56:91-98 (1995).
-
(1995)
Am J Hum Genet
, vol.56
, pp. 91-98
-
-
Lorenzetti, D.1
Parcyson, D.2
Angelo, S.3
Roa, B.R.4
Abbas, N.5
Pandolfo, M.6
Di Donato, S.7
Lupski, J.8
-
11
-
-
0025868571
-
DNA duplication associated with Charcot-Marie-Toolh disease type 1A
-
Lupski JR, Montes de Oca-Luna R, Slaugcnhaupt S, Killian JM, Garcia CA, Chakravarti A, Patel PI: DNA duplication associated with Charcot-Marie-Toolh disease type 1A, Cell 66:219-232 (1991).
-
(1991)
Cell
, vol.66
, pp. 219-232
-
-
Lupski, J.R.1
De, M.2
Oca-Luna, R.3
Slaugcnhaupt, S.4
Killian, J.M.5
Garcia, C.A.6
Chakravarti, A.7
Patel, P.I.8
-
12
-
-
0028158825
-
Evidence for genetic heterogeneity underlying hereditary' neuropathy with liability to pressure palsies
-
Mariman ECM, Gabreels-Fcstcn MWM, van Beersum SEC, Jongen PJH, van de Looij E, Baas F, Bolhuis P, Ropers HH, Gabrcels FJM: Evidence for genetic heterogeneity underlying hereditary' neuropathy with liability to pressure palsies, Hum Genet 93: 151-156 (1994).
-
(1994)
Hum Genet
, vol.93
, pp. 151-156
-
-
Mariman, E.1
Gabreels-Fcstcn, M.2
Van Beersum, S.3
Jongen, P.4
Van De Looij, E.5
Baas, F.6
Bolhuis, P.7
Ropers, H.H.8
Gabrcels, F.9
-
13
-
-
0028339044
-
A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies
-
Nicholson GA, Valentijn LJ, Cherryson AK, Kenner-son ML, Bragg TL, DeKroon RM, Ross DA, Pollard JD, Mcleod JG, Bolhuis PA, Baas F: A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies, Nature Genet 6:263-266 (1994).
-
(1994)
Nature Genet
, vol.6
, pp. 263-266
-
-
Nicholson, G.A.1
Valentijn, L.J.2
Cherryson, A.K.3
Kenner-Son, M.L.4
Bragg, T.L.5
Dekroon, R.M.6
Ross, D.A.7
Pollard, J.D.8
McLeod, J.G.9
Bolhuis, P.A.10
Baas, F.11
-
14
-
-
0026950937
-
Two hot spots of recombination in the DMD gene correlate with the deletion prone region
-
Oudel C, Hanauer A, Clemens P, Caskay T, Mandel JL: Two hot spots of recombination in the DMD gene correlate with the deletion prone region, Hum molec Genet 8:599-603 (1992).
-
(1992)
Hum Molec Genet
, vol.8
, pp. 599-603
-
-
Oudel, C.1
Hanauer, A.2
Clemens, P.3
Caskay, T.4
Mandel, J.L.5
-
15
-
-
0027017033
-
Charcot-Marie-Tooth type IA duplication appears to arise from recombination at repeat sequences Hanking the 1.5 Mb monomere unit
-
Pentao L, Wise CA, Chinault AC, Patel PI, Lupski JR: Charcot-Marie-Tooth type IA duplication appears to arise from recombination at repeat sequences Hanking the 1.5 Mb monomere unit, Nature Genet 2:292-300 (1992).
-
(1992)
Nature Genet
, vol.2
, pp. 292-300
-
-
Pentao, L.1
Wise, C.A.2
Chinault, A.C.3
Patel, P.I.4
Lupski, J.R.5
-
16
-
-
0028285133
-
A 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, Wagner K: A sporadic form of hereditary neuropathy with liability to pressure palsies: clinical, electrodiagnostic, and molecular genetic findings, Neurology 44:753-755 (1994).
-
(1994)
Neurology
, vol.44
, pp. 753-755
-
-
Reisecker, R.1
Leblhuber, F.2
Lexner, R.3
Radner, G.4
Rosenkranz, W.5
Wagner, K.6
-
17
-
-
0028217870
-
Deletion in the CMT1A locus on chromosome 17pl 1.2 in hereditary neuropathy with liability to pressure palsies
-
Verhalle D, Lofgren A, Nelis E, Dchaene I, Thcys P, Lammens M, Dom R, Van Broeckhoven C, Rob-berecht W: Deletion in the CMT1A locus on chromosome 17pl 1.2 in hereditary neuropathy with liability to pressure palsies, Ann Neurol 35:704-708 (1994).
-
(1994)
Ann Neurol
, vol.35
, pp. 704-708
-
-
Verhalle, D.1
Lofgren, A.2
Nelis, E.3
Dchaene, I.4
Thcys, P.5
Lammens, M.6
Dom, R.7
Van Broeckhoven, C.8
Rob-Berecht, W.9
-
18
-
-
0026446099
-
A second generation map of the human genome
-
Weissenbach J, Gyapay G, Dib C, Vignal A, Morisette J, Milasseau P, Vaysscix G, Lathrop M: A second generation map of the human genome, Nature 359: 794-801 (1992).
-
(1992)
Nature
, vol.359
, pp. 794-801
-
-
Weissenbach, J.1
Gyapay, G.2
Dib, C.3
Vignal, A.4
Morisette, J.5
Milasseau, P.6
Vaysscix, G.7
Lathrop, M.8
-
19
-
-
0001215716
-
Inherited recurrent focal neuropathies
-
Dvck PJ, Thomas PK, Griffin JW, Low PA, Poduslo JF, 3rd Ed, Saunders, Philadelphia
-
Windebark AJ: Inherited recurrent focal neuropathies, in Dvck PJ, Thomas PK, Griffin JW, Low PA, Poduslo JF (eds): Peripheral Neuropathy, 3rd Ed, pp 1094-1136 (Saunders, Philadelphia 1993).
-
(1993)
Peripheral Neuropathy
, pp. 1094-1136
-
-
Windebark, A.J.1
-
20
-
-
0027374931
-
Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMT1A duplication
-
Wise CA, Garcia CA, Davis SN, Heju Z, Pentao L, Patel PL Lupski JR: Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMT1A duplication, Am J hum Genet 53:853-863 (1993).
-
(1993)
Am J Hum Genet
, vol.53
, pp. 853-863
-
-
Wise, C.A.1
Garcia, C.A.2
Davis, S.N.3
Heju, Z.4
Pentao, L.5
Patel Pl Lupski, J.R.6
-
21
-
-
0025158560
-
A genetic map of human chromosome 17p
-
Wright EC, Goldgar DE, Fain PR, Barker DF, Skolnick MH: A genetic map of human chromosome 17p, Genomics 7:103-109 (1990).
-
(1990)
Genomics
, vol.7
, pp. 103-109
-
-
Wright, E.C.1
Goldgar, D.E.2
Fain, P.R.3
Barker, D.F.4
Skolnick, M.H.5
|