-
1
-
-
0021673412
-
X-linked recessive myotubular myopathy: Clinical and pathologic findings in a family
-
Ambler, A., Neave, C., Tutschka, B. (1984). X-linked recessive myotubular myopathy: clinical and pathologic findings in a family, Hum. Pathol., 15, 566-574.
-
(1984)
Hum. Pathol.
, vol.15
, pp. 566-574
-
-
Ambler, A.1
Neave, C.2
Tutschka, B.3
-
2
-
-
0019149708
-
Sporadic occurrence of Duchenne muscular dystrophy: Evidence for new mutation
-
Caskey, C.T., Nussbaum, R.L., Cohan, L., Pollack, L. (1980). Sporadic occurrence of Duchenne muscular dystrophy: evidence for new mutation, Clin. Genet., 18, 329-341.
-
(1980)
Clin. Genet.
, vol.18
, pp. 329-341
-
-
Caskey, C.T.1
Nussbaum, R.L.2
Cohan, L.3
Pollack, L.4
-
3
-
-
0026571810
-
Isolation and characterisation of a highly polymorphic human locus (DXS455) in proximal Xq28
-
Consalez, G., Stayton, C., Freimer, N., Goonewardena, P., Brown, T., Gilliam, T., Warren, S. (1992). Isolation and characterisation of a highly polymorphic human locus (DXS455) in proximal Xq28, Genomics, 12, 710-714.
-
(1992)
Genomics
, vol.12
, pp. 710-714
-
-
Consalez, G.1
Stayton, C.2
Freimer, N.3
Goonewardena, P.4
Brown, T.5
Gilliam, T.6
Warren, S.7
-
4
-
-
0024420550
-
Linkage analysis of families with fragile-X mental retardation using a novel RFLP marker (DXS304)
-
Dahl, N., Goonewardena, P., Malmgren, H., Gustavson, K.-H., Flod, A., Holmgren, G., Annerén, G., Pettersson, U. (1989). Linkage analysis of families with fragile-X mental retardation using a novel RFLP marker (DXS304), Am. J. Hum. Genet., 45, 304-309.
-
(1989)
Am. J. Hum. Genet.
, vol.45
, pp. 304-309
-
-
Dahl, N.1
Goonewardena, P.2
Malmgren, H.3
Gustavson, K.-H.4
Flod, A.5
Holmgren, G.6
Annerén, G.7
Pettersson, U.8
-
5
-
-
0028606338
-
X linked myotubular myopathy (MTM1) maps between DXS304 and DXS305, closely linked to the DXS455 VNTR and a new, highly informative microsatellite marker (DXS1684)
-
Dahl, N., Samson, F., Thomas, N., Hu, L., Gong, W., Herman, G., Laporte, J., Kioschis, P., Poutska, A., Mandel, J.L. (1994). X linked myotubular myopathy (MTM1) maps between DXS304 and DXS305, closely linked to the DXS455 VNTR and a new, highly informative microsatellite marker (DXS1684), J. Med. Genet., 31, 922-924.
-
(1994)
J. Med. Genet.
, vol.31
, pp. 922-924
-
-
Dahl, N.1
Samson, F.2
Thomas, N.3
Hu, L.4
Gong, W.5
Herman, G.6
Laporte, J.7
Kioschis, P.8
Poutska, A.9
Mandel, J.L.10
-
6
-
-
0028969635
-
Myotubular myopathy in a girl with a deletion at Xq27-q28 and unbalanced X inactivation assigns the MTM1 gene to a 600 kb region
-
Dahl, N., Hu, L., Chery, M., Fardeau, M., Gilgenkrantz, S., Nivelo-Chevalier, A., Sidaner-Noisette, I., Mugneret, F., Goyon, J., Gal, A., Kioschis, P., d'Urso, M., Mandel, J.L. (1995). Myotubular myopathy in a girl with a deletion at Xq27-q28 and unbalanced X inactivation assigns the MTM1 gene to a 600 kb region, Am. J. Hum. Genet., 56, 1108-1116.
-
(1995)
Am. J. Hum. Genet.
, vol.56
, pp. 1108-1116
-
-
Dahl, N.1
Hu, L.2
Chery, M.3
Fardeau, M.4
Gilgenkrantz, S.5
Nivelo-Chevalier, A.6
Sidaner-Noisette, I.7
Mugneret, F.8
Goyon, J.9
Gal, A.10
Kioschis, P.11
D'Urso, M.12
Mandel, J.L.13
-
7
-
-
0025273771
-
X-linked myotubular myopathy: A linkage study
-
Darnfors, C., Larsson, B., Oldfors, A., Kyllerman, M., Gustavson, K.H., Bjursell, G., Wahlström, J. (1990). X-linked myotubular myopathy: a linkage study, Clin. Genet., 37, 335-340.
-
(1990)
Clin. Genet.
, vol.37
, pp. 335-340
-
-
Darnfors, C.1
Larsson, B.2
Oldfors, A.3
Kyllerman, M.4
Gustavson, K.H.5
Bjursell, G.6
Wahlström, J.7
-
8
-
-
0026345869
-
Report of the committee on the genetic constitution of the X chromosome
-
Davies, K., Mandel, J.L., Monaco, T., Nussbaum, R., Willard, H. (1991). Report of the committee on the genetic constitution of the X chromosome, Cytogenet Cell Genet., 58, 853-966.
-
(1991)
Cytogenet Cell Genet.
, vol.58
, pp. 853-966
-
-
Davies, K.1
Mandel, J.L.2
Monaco, T.3
Nussbaum, R.4
Willard, H.5
-
9
-
-
0001960683
-
Congenital myopathies
-
Mastaglia, F., Lord Walton, J. (Eds). Edinburgh: Churchill Livingstone
-
Fardeau, M. (1992). Congenital myopathies. In: Mastaglia, F., Lord Walton, J. (Eds). Skeletal Muscle Pathology, 2nd edn, Edinburgh: Churchill Livingstone. 237-281.
-
(1992)
Skeletal Muscle Pathology, 2nd Edn
, pp. 237-281
-
-
Fardeau, M.1
-
10
-
-
0028145145
-
Dinucleotide repeat polymorphism at the DXS1684 locus
-
Gong, W., Hu, L., Kioschis, P., Poutska, A., Dahl, N. (1994). Dinucleotide repeat polymorphism at the DXS1684 locus, Hum. Mol. Genet., 3, 1442
-
(1994)
Hum. Mol. Genet.
, vol.3
, pp. 1442
-
-
Gong, W.1
Hu, L.2
Kioschis, P.3
Poutska, A.4
Dahl, N.5
-
11
-
-
9244227398
-
Identification of a highly polymorphic tetranucleotide repeat (DXS7423) in the MTM1 candidate region
-
in press
-
Hu, L., Laporte, J., Dahl, N., Mandel, J.L. (1996). Identification of a highly polymorphic tetranucleotide repeat (DXS7423) in the MTM1 candidate region. Hum Genet., in press.
-
(1996)
Hum Genet.
-
-
Hu, L.1
Laporte, J.2
Dahl, N.3
Mandel, J.L.4
-
12
-
-
0028061372
-
The gene for X-linked myotubular myopathy is located in an 8 Mb region at the border of Xq27.3 and Xq28
-
Janssen, E.A., Hensels, G.W., van Oost, B.A., Hamel, B., Kemp, S., Baas, F., Weber, J., Barth, P.G., Bolhuis, P.A. (1994). The gene for X-linked myotubular myopathy is located in an 8 Mb region at the border of Xq27.3 and Xq28, Neuromusc. Disord, 4, 455-461.
-
(1994)
Neuromusc. Disord
, vol.4
, pp. 455-461
-
-
Janssen, E.A.1
Hensels, G.W.2
Van Oost, B.A.3
Hamel, B.4
Kemp, S.5
Baas, F.6
Weber, J.7
Barth, P.G.8
Bolhuis, P.A.9
-
13
-
-
0000732266
-
The estimation of map distances from recombination values
-
Kosambi, D.D. (1944). The estimation of map distances from recombination values, Ann. Eugenics, 12, 172-175.
-
(1944)
Ann. Eugenics
, vol.12
, pp. 172-175
-
-
Kosambi, D.D.1
-
14
-
-
0025294930
-
X-linked neonatal myotubular myopathy: One recombination detected with four polymorphic DNA markers from Xq28
-
Lehesjoki, A.E., Sankila, E., Miao, J., Somer, M., Salonen, R., Rapola, J., de la Chapelle, A. (1990). X-linked neonatal myotubular myopathy: one recombination detected with four polymorphic DNA markers from Xq28, J. Med Genet., 27, 288-291.
-
(1990)
J. Med Genet.
, vol.27
, pp. 288-291
-
-
Lehesjoki, A.E.1
Sankila, E.2
Miao, J.3
Somer, M.4
Salonen, R.5
Rapola, J.6
De La Chapelle, A.7
-
15
-
-
0026339262
-
X-linked centronuclear myopathy: Mapping the gene to Xq28
-
Liechti-Gallati, S., Müller, B., Grimm, T., Kress, W., Müller, C., Boltshauser, E., Moser, H., Braga, S. (1991). X-linked centronuclear myopathy: mapping the gene to Xq28, Neuromusc. Disord., 1, 239-245.
-
(1991)
Neuromusc. Disord.
, vol.1
, pp. 239-245
-
-
Liechti-Gallati, S.1
Müller, B.2
Grimm, T.3
Kress, W.4
Müller, C.5
Boltshauser, E.6
Moser, H.7
Braga, S.8
-
16
-
-
0027408369
-
Prenatal diagnosis of X-linked centronuclear myopathy by linkage analysis
-
Liechti-Gallati, S., Wollff, G., Ketelsen, U.P., Braga, S. (1993). Prenatal diagnosis of X-linked centronuclear myopathy by linkage analysis, Pediatr. Res., 33, 201-204.
-
(1993)
Pediatr. Res.
, vol.33
, pp. 201-204
-
-
Liechti-Gallati, S.1
Wollff, G.2
Ketelsen, U.P.3
Braga, S.4
-
17
-
-
0024284028
-
A simple salting out method for extracting DNA from human nucleated cells
-
Miller, S., Dykes, D., Polesky, H. (1988). A simple salting out method for extracting DNA from human nucleated cells, Nucleic Acids Res., 16, 1215.
-
(1988)
Nucleic Acids Res.
, vol.16
, pp. 1215
-
-
Miller, S.1
Dykes, D.2
Polesky, H.3
-
18
-
-
0028099633
-
YAC contig organization and CpG island analysis in Xq28
-
Palmieri, G., Romano, G., Ciccodicola, A., Casamassimi, A., Campanile, C., Esposito, T., Cappa, V., Lania, A., Johnson, S., Reinbold, R., Poutska, A., Schlessinger, D., D'Urso, M. (1994). YAC contig organization and CpG island analysis in Xq28, Genomics, 24, 149-158.
-
(1994)
Genomics
, vol.24
, pp. 149-158
-
-
Palmieri, G.1
Romano, G.2
Ciccodicola, A.3
Casamassimi, A.4
Campanile, C.5
Esposito, T.6
Cappa, V.7
Lania, A.8
Johnson, S.9
Reinbold, R.10
Poutska, A.11
Schlessinger, D.12
D'Urso, M.13
-
19
-
-
0028099702
-
Isolation of a GCC repeat showing expansion in FRAXF, a fragile site distal to FRAXA and FRAXE
-
Parrish, J., Oostra, B., Verkerk, A., Richards, C., Reynolds, J., Spikes, A., Shaffer, L., Nelson, D. (1994). Isolation of a GCC repeat showing expansion in FRAXF, a fragile site distal to FRAXA and FRAXE, Nature Genet., 8, 229-235.
-
(1994)
Nature Genet.
, vol.8
, pp. 229-235
-
-
Parrish, J.1
Oostra, B.2
Verkerk, A.3
Richards, C.4
Reynolds, J.5
Spikes, A.6
Shaffer, L.7
Nelson, D.8
-
20
-
-
0028567730
-
The cloning of FRAXF: Trinucleotide repeat expansion and methylation at a third fragile site in distal Xqter
-
Ritchie, R., Knight, S., Hirst, M., Grewal, P., Bobrow, M., Cross, G., Davies, K. (1994). The cloning of FRAXF: trinucleotide repeat expansion and methylation at a third fragile site in distal Xqter, Hum. Mol. Genet., 3, 2115-2121.
-
(1994)
Hum. Mol. Genet.
, vol.3
, pp. 2115-2121
-
-
Ritchie, R.1
Knight, S.2
Hirst, M.3
Grewal, P.4
Bobrow, M.5
Cross, G.6
Davies, K.7
-
21
-
-
0028601340
-
A YAC clone map spanning 7-5 megabases of human chromosome band Xq28
-
Rogner, U., Kioschis, P., Wilke, K., Gong, W., Pick, E., Dietrich, A., Zechner, U., Hameister, H., Pragliola, A., Herman, G., Yates, J., Lehrach, H., Poutska, A. (1994). A YAC clone map spanning 7-5 megabases of human chromosome band Xq28, Hum. Mol. Genet., 3, 2137-2146.
-
(1994)
Hum. Mol. Genet.
, vol.3
, pp. 2137-2146
-
-
Rogner, U.1
Kioschis, P.2
Wilke, K.3
Gong, W.4
Pick, E.5
Dietrich, A.6
Zechner, U.7
Hameister, H.8
Pragliola, A.9
Herman, G.10
Yates, J.11
Lehrach, H.12
Poutska, A.13
-
22
-
-
0029076864
-
Genetic linkage heterogeneity in myotubular myopathy
-
Samson, F., Mesnard, L., Heimburger, M., Hanauer, A., Chevallay, M., Mercadier, J.J., Pelissier, J.F., Feingold, N., Junien, C., Mandel, J.L., Fardeau, M. (1995). Genetic linkage heterogeneity in myotubular myopathy, Am. J. Hum. Genet., 57, 120-126.
-
(1995)
Am. J. Hum. Genet.
, vol.57
, pp. 120-126
-
-
Samson, F.1
Mesnard, L.2
Heimburger, M.3
Hanauer, A.4
Chevallay, M.5
Mercadier, J.J.6
Pelissier, J.F.7
Feingold, N.8
Junien, C.9
Mandel, J.L.10
Fardeau, M.11
-
23
-
-
0026744205
-
Vimentin and desmin in maturing skeletal muscle and developmental myopathies
-
Sarnat, H.B. (1992). Vimentin and desmin in maturing skeletal muscle and developmental myopathies, Neurology, 42, 1616-1624.
-
(1992)
Neurology
, vol.42
, pp. 1616-1624
-
-
Sarnat, H.B.1
-
24
-
-
0025297247
-
A linkage study of a large pedigree with X-linked centronuclear myopathy
-
Starr, J., Lamont, M., Iselius, L., Harvey, J., Heckmatt, J. (1990). A linkage study of a large pedigree with X-linked centronuclear myopathy, J. Med. Genet., 27, 281-283.
-
(1990)
J. Med. Genet.
, vol.27
, pp. 281-283
-
-
Starr, J.1
Lamont, M.2
Iselius, L.3
Harvey, J.4
Heckmatt, J.5
-
25
-
-
0025836727
-
Linkage homogeneity near the fragile X locus in normal and fragile X families
-
Suthers, G.K., Mulley, J., Voelckel, M., Dahl, N., Väisänen, M., Steinbach, P., Glass, I., Schwartz, C., van Oost, B., Thibodeau, S., Haites, N., Oostra, B., Schinzel, A., Carballo, M., Morris, C., Hopwood, J., Sutherland, G. (1991). Linkage homogeneity near the fragile X locus in normal and fragile X families, Genomics, 10, 576-582.
-
(1991)
Genomics
, vol.10
, pp. 576-582
-
-
Suthers, G.K.1
Mulley, J.2
Voelckel, M.3
Dahl, N.4
Väisänen, M.5
Steinbach, P.6
Glass, I.7
Schwartz, C.8
Van Oost, B.9
Thibodeau, S.10
Haites, N.11
Oostra, B.12
Schinzel, A.13
Carballo, M.14
Morris, C.15
Hopwood, J.16
Sutherland, G.17
-
26
-
-
0001528331
-
X-linkage in myotubular myopathy (XLMTM): Evidence for linkage to Xq28 DNA markers
-
Thomas, N., Sarfarazi, M., Roberts, K., Williams, H., Cole, G., Liechti-Gallati, S., Harper, P. (1987). X-linkage in myotubular myopathy (XLMTM): evidence for linkage to Xq28 DNA markers, Cytogenet. Cell Genet., 46, 314.
-
(1987)
Cytogenet. Cell Genet.
, vol.46
, pp. 314
-
-
Thomas, N.1
Sarfarazi, M.2
Roberts, K.3
Williams, H.4
Cole, G.5
Liechti-Gallati, S.6
Harper, P.7
-
27
-
-
0025300478
-
X-linked centronuclear/myotubular myopathy: Evidence for linkage to Xq28 DNA marker loci
-
Thomas, N., Williams, H., Cole, G., Roberts, K., Clarke, A., Leichti-Gallati, S., Gerber, A., Meier, C., Moser, H., Hapre, P.S. (1990). X-linked centronuclear/myotubular myopathy: evidence for linkage to Xq28 DNA marker loci, J Med. Genet., 27, 284-287.
-
(1990)
J Med. Genet.
, vol.27
, pp. 284-287
-
-
Thomas, N.1
Williams, H.2
Cole, G.3
Roberts, K.4
Clarke, A.5
Leichti-Gallati, S.6
Gerber, A.7
Meier, C.8
Moser, H.9
Hapre, P.S.10
-
28
-
-
0014577492
-
Familial 'myotubular' myopathy
-
Van Wijngaarden, G.K., Fleury, P., Bethlem, J. (1969). Familial 'myotubular' myopathy, Neurology, 19, 901-908.
-
(1969)
Neurology
, vol.19
, pp. 901-908
-
-
Van Wijngaarden, G.K.1
Fleury, P.2
Bethlem, J.3
-
29
-
-
0024505923
-
A new polymorphic marker very closely linked to DXS52 in the Xq28 region of the human X chromosome
-
Vincent, A., Kretz, C., Oberlé, I., Mandel, J.L. (1989). A new polymorphic marker very closely linked to DXS52 in the Xq28 region of the human X chromosome, Hum. Genet., 82, 85-86.
-
(1989)
Hum. Genet.
, vol.82
, pp. 85-86
-
-
Vincent, A.1
Kretz, C.2
Oberlé, I.3
Mandel, J.L.4
-
30
-
-
0028137765
-
Report on the 20th ENMC-sponsored international workshop: Myotubular/centronuclear myopathy
-
Wallgren-Pettersson, C., Thomas, N. (1994). Report on the 20th ENMC-sponsored international workshop: myotubular/centronuclear myopathy, Neuromusc. Disord., 4, 71-74.
-
(1994)
Neuromusc. Disord.
, vol.4
, pp. 71-74
-
-
Wallgren-Pettersson, C.1
Thomas, N.2
-
31
-
-
0027256635
-
Dinucleotide repeat polymorphism close to IDS gene in Xq27.3-q28 (DXS1113)
-
Weber, C., Oudet, C., Johnson, S., Pilia, G., Schlessinger, D., Hanauer, A. (1993). Dinucleotide repeat polymorphism close to IDS gene in Xq27.3-q28 (DXS1113), Hum. Mol. Genet., 2, 612.
-
(1993)
Hum. Mol. Genet.
, vol.2
, pp. 612
-
-
Weber, C.1
Oudet, C.2
Johnson, S.3
Pilia, G.4
Schlessinger, D.5
Hanauer, A.6
|