-
1
-
-
0028137765
-
Report on the 20th ENMC sponsored international workshop: Myotubular/ centronuclear myopathy
-
Wallgren-Pettersson C, Thomas N. Report on the 20th ENMC sponsored international workshop: myotubular/ centronuclear myopathy. Neuromusc Disord 1994: 4: 71-74.
-
(1994)
Neuromusc Disord
, vol.4
, pp. 71-74
-
-
Wallgren-Pettersson, C.1
Thomas, N.2
-
2
-
-
0022411641
-
Congenital centronuclear (myotubular) myopathy: A clinical, pathological and genetic study in eight children
-
Heckmatt JZ, Sewry CA, Hodes D, Dubowitz V. Congenital centronuclear (myotubular) myopathy: a clinical, pathological and genetic study in eight children. Brain 1985: 108: 941-964.
-
(1985)
Brain
, vol.108
, pp. 941-964
-
-
Heckmatt, J.Z.1
Sewry, C.A.2
Hodes, D.3
Dubowitz, V.4
-
3
-
-
0024345812
-
X-linked myotubular myopathy: Clinical and pathological findings in a family
-
Oldfors A, Kyllerman M, Wahlstrom J, Darnfors C, Henriksson KG. X-linked myotubular myopathy: clinical and pathological findings in a family. Clin Genet 1989: 36: 5-14.
-
(1989)
Clin Genet
, vol.36
, pp. 5-14
-
-
Oldfors, A.1
Kyllerman, M.2
Wahlstrom, J.3
Darnfors, C.4
Henriksson, K.G.5
-
4
-
-
0025599980
-
Severe neonatal asphyxia due to X-linked centronuclear myopathy
-
Braga SE, Gerber A, Meier C, Weiersmuller A, Zimmermann A, Herrmann U, Liechti S, Moser H. Severe neonatal asphyxia due to X-linked centronuclear myopathy. Eur J Pediatr 1990: 150: 132-135.
-
(1990)
Eur J Pediatr
, vol.150
, pp. 132-135
-
-
Braga, S.E.1
Gerber, A.2
Meier, C.3
Weiersmuller, A.4
Zimmermann, A.5
Herrmann, U.6
Liechti, S.7
Moser, H.8
-
5
-
-
0025731916
-
Centronuclear myopathy: Clinical, morphological and genetic characters. A review of 288 cases
-
DeAngelis MS, Palmucci L, Leone M, Doriguzzi C. Centronuclear myopathy: clinical, morphological and genetic characters. A review of 288 cases. J Neurol Sci 1991: 103: 2-9.
-
(1991)
J Neurol Sci
, vol.103
, pp. 2-9
-
-
DeAngelis, M.S.1
Palmucci, L.2
Leone, M.3
Doriguzzi, C.4
-
6
-
-
0028787506
-
X-linked myotubular myopathy: Clinical observations in ten additional patients
-
Joseph M, Pai S, Holden KR, Herrman GE. X-linked myotubular myopathy: clinical observations in ten additional patients. Am J Med Genet 1995: 59: 168-173.
-
(1995)
Am J Med Genet
, vol.59
, pp. 168-173
-
-
Joseph, M.1
Pai, S.2
Holden, K.R.3
Herrman, G.E.4
-
7
-
-
0029023971
-
The myotubular myopathies: Differential diagnosis of the X-linked recessive, autosomal dominant, and autosomal recessive forms and present state of the DNA studies
-
Wallgren-Pettersson C, Clarke A, Samson F. Fardeau M, Dubovitz V, Moser H, Grimm T, Barohn RJ, Barth P. The myotubular myopathies: differential diagnosis of the X-linked recessive, autosomal dominant, and autosomal recessive forms and present state of the DNA studies. J Med Genet 1995: 32: 673-679.
-
(1995)
J Med Genet
, vol.32
, pp. 673-679
-
-
Wallgren-Pettersson, C.1
Clarke, A.2
Samson, F.3
Fardeau, M.4
Dubovitz, V.5
Moser, H.6
Grimm, T.7
Barohn, R.J.8
Barth, P.9
-
8
-
-
0001960683
-
Congenital myopathies
-
Mastaglia FL, Walton JN, eds. Edinburgh: Churchill Livingstone
-
Fardeau M. Congenital myopathies. In: Mastaglia FL, Walton JN, eds. Skeletal Muscle Pathology. Edinburgh: Churchill Livingstone, 1992: 237-281.
-
(1992)
Skeletal Muscle Pathology
, pp. 237-281
-
-
Fardeau, M.1
-
9
-
-
0025279786
-
Myotubular myopathy: Arrest of morphogenesis of myofibers associated with persistence of fetal vimentin and desmin. Four cases compared with fetal and neonatal muscle
-
Sarnat HB. Myotubular myopathy: arrest of morphogenesis of myofibers associated with persistence of fetal vimentin and desmin. Four cases compared with fetal and neonatal muscle. Can J Neurol Sci 1990: 17: 109-123.
-
(1990)
Can J Neurol Sci
, vol.17
, pp. 109-123
-
-
Sarnat, H.B.1
-
10
-
-
0025297247
-
A linkage study of a large pedigree with X-linked centronuclear myopathy
-
Starr J, Lamont M, Iselius L, Harvey J, Heckmatt J. A linkage study of a large pedigree with X-linked centronuclear myopathy. J Med Genet 1990: 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
-
11
-
-
0025300478
-
X-linked centronuclear/myotubular myopathy: Evidence for linkage to Xq28 DNA marker loci
-
Thomas NST, Williams H, Cole G, Roberts K, Clarke A, Liechti-Gallati S, Braga S, Gerber A, Meier C, Moser H, Harper PS. X-linked centronuclear/myotubular myopathy: evidence for linkage to Xq28 DNA marker loci. J Med Genet 1990: 27: 284-287.
-
(1990)
J Med Genet
, vol.27
, pp. 284-287
-
-
Thomas, N.S.T.1
Williams, H.2
Cole, G.3
Roberts, K.4
Clarke, A.5
Liechti-Gallati, S.6
Braga, S.7
Gerber, A.8
Meier, C.9
Moser, H.10
Harper, P.S.11
-
12
-
-
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. X-linked centronuclear myopathy: mapping the gene to Xq28. Neuromuscular Disord 1991: 1: 239-245.
-
(1991)
Neuromuscular 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
-
13
-
-
9044222886
-
A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast
-
Laporte J, Hu LJ, Kretz C, Mandel JL, Kioschis P, Coy JF, Klauck SM, Poustka A, Dahl N. A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast. Nat Genet 1996: 13: 175-182.
-
(1996)
Nat Genet
, vol.13
, pp. 175-182
-
-
Laporte, J.1
Hu, L.J.2
Kretz, C.3
Mandel, J.L.4
Kioschis, P.5
Coy, J.F.6
Klauck, S.M.7
Poustka, A.8
Dahl, N.9
-
14
-
-
0026324171
-
Protein tyrosine phosphatases: A diverse family of intracellular and transmembrane enzymes
-
Fischer EH, Charbonneau H, Tonks NK. Protein tyrosine phosphatases: a diverse family of intracellular and transmembrane enzymes. Science 1991: 253: 401-406.
-
(1991)
Science
, vol.253
, pp. 401-406
-
-
Fischer, E.H.1
Charbonneau, H.2
Tonks, N.K.3
-
15
-
-
0030833392
-
Characterization of mutations in the myotubularin gene in twenty six patients with X-linked myotubular myopathy
-
de Gouyon BM, Zhao W, Laporte J, Mandel JL. Metzenberg A, Herman GE. Characterization of mutations in the myotubularin gene in twenty six patients with X-linked myotubular myopathy. Hum Mol Genet 1997: 6: 1499-1504.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 1499-1504
-
-
Gouyon, B.M.1
Zhao, W.2
Laporte, J.3
Mandel, J.L.4
Metzenberg, A.5
Herman, G.E.6
-
16
-
-
9844265393
-
Mutations in the MTM1 gene implicated in X-linked myotubular myopathy
-
Laporte J, Guiraud-Chaumeil C, Vincent MC, Mandel JL, Tanner SM, Liechti-Gallati S, Wallgren-Pettersson C, Dahl N, Kress W, Bolhuis PA, Fardeau M, Samson F, Bertini E. Mutations in the MTM1 gene implicated in X-linked myotubular myopathy. Hum Mol Genet 1997: 6: 1505-1511.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 1505-1511
-
-
Laporte, J.1
Guiraud-Chaumeil, C.2
Vincent, M.C.3
Mandel, J.L.4
Tanner, S.M.5
Liechti-Gallati, S.6
Wallgren-Pettersson, C.7
Dahl, N.8
Kress, W.9
Bolhuis, P.A.10
Fardeau, M.11
Samson, F.12
Bertini, E.13
-
17
-
-
0031611594
-
Confirmation of prenatal diagnosis results of X-linked recessive myotubular myopathy by mutational screening, and description of three new mutations in the MTM1 gene
-
Tanner SM, Laporte J, Guiraud-Chaumeil C, Liechti-Gallati S. Confirmation of prenatal diagnosis results of X-linked recessive myotubular myopathy by mutational screening, and description of three new mutations in the MTM1 gene. Hum Mutat 1998: 11: 62-68.
-
(1998)
Hum Mutat
, vol.11
, pp. 62-68
-
-
Tanner, S.M.1
Laporte, J.2
Guiraud-Chaumeil, C.3
Liechti-Gallati, S.4
-
18
-
-
0031899454
-
Extensive germinal mosaicism in a family with X-linked myotubular myopathy simulates genetic heterogeneity
-
Vincent MC, Guiraud-Chaumeil C, Laporte J, Manouvrier-Hanu S, Mandel JL. Extensive germinal mosaicism in a family with X-linked myotubular myopathy simulates genetic heterogeneity. J Med Genet 1998: 35: 241-243.
-
(1998)
J Med Genet
, vol.35
, pp. 241-243
-
-
Vincent, M.C.1
Guiraud-Chaumeil, C.2
Laporte, J.3
Manouvrier-Hanu, S.4
Mandel, J.L.5
-
19
-
-
0025085637
-
Allan-Herndon syndrome. II. Linkage to DNA markers in Xq21
-
Schwartz CE, Ulmer J, Brown A, Pancoast I, Goodman HO, Stevenson RE. Allan-Herndon syndrome. II. Linkage to DNA markers in Xq21. Am J Hum Genet 1990: 47: 454-459.
-
(1990)
Am J Hum Genet
, vol.47
, pp. 454-459
-
-
Schwartz, C.E.1
Ulmer, J.2
Brown, A.3
Pancoast, I.4
Goodman, H.O.5
Stevenson, R.E.6
-
20
-
-
0024560882
-
Modification of enzymatically amplified DNA for the detection of point mutations
-
Haliassos A, Chomel JC, Tesson L, Baudis M, Kruh J, Kaplan JC, Kitzis A. Modification of enzymatically amplified DNA for the detection of point mutations. Nucl Acids Res 1989: 17: 3606.
-
(1989)
Nucl Acids Res
, vol.17
, pp. 3606
-
-
Haliassos, A.1
Chomel, J.C.2
Tesson, L.3
Baudis, M.4
Kruh, J.5
Kaplan, J.C.6
Kitzis, A.7
-
21
-
-
0028009549
-
Protein tyrosine phosphatases: Characterization of extracellular and intracellular domains
-
Mourey RJ, Dixon J. Protein tyrosine phosphatases: characterization of extracellular and intracellular domains. Cur Opin Genet Dev 1994: 4: 31-39.
-
(1994)
Cur Opin Genet Dev
, vol.4
, pp. 31-39
-
-
Mourey, R.J.1
Dixon, J.2
-
22
-
-
0027947521
-
All muscles are not created equal
-
Donoghue MJ, Sanes JR. All muscles are not created equal. Trends Genet 1994: 10: 396-401.
-
(1994)
Trends Genet
, vol.10
, pp. 396-401
-
-
Donoghue, M.J.1
Sanes, J.R.2
-
23
-
-
0031945475
-
Association of SET domain and myotubularin-related proteins modulates growth control
-
Cui X, De Vivo I, Slany R. Miyamoto A. Firestein R, Cleary ML. Association of SET domain and myotubularin-related proteins modulates growth control. Nat Genet 1998: 18: 331-337.
-
(1998)
Nat Genet
, vol.18
, pp. 331-337
-
-
Cui, X.1
De Vivo, I.2
Slany, R.3
Miyamoto, A.4
Firestein, R.5
Cleary, M.L.6
-
24
-
-
0023257860
-
Germline mosaicism and Duchenne muscular dystrophy mutations
-
Bakker E, Van Broeckhoven C, Bonten EJ, van de Vooren MJ, Veenema H, Van Hul W. Van Ommen GJ. Vandenberghe A, Pearson PL. Germline mosaicism and Duchenne muscular dystrophy mutations. Nature 1987: 329: 554-556.
-
(1987)
Nature
, vol.329
, pp. 554-556
-
-
Bakker, E.1
Van Broeckhoven, C.2
Bonten, E.J.3
Van De Vooren, M.J.4
Veenema, H.5
Van Hul, W.6
Van Ommen, G.J.7
Vandenberghe, A.8
Pearson, P.L.9
-
25
-
-
0025678684
-
Germinal mosaicism from grandpaternal origin in a family with Duchenne muscular dystrophy
-
Claustres M, Kjellberg P, Desgeorges M. Bellet H. Demaille J. Germinal mosaicism from grandpaternal origin in a family with Duchenne muscular dystrophy. Hum Genet 1990: 86: 241-243.
-
(1990)
Hum Genet
, vol.86
, pp. 241-243
-
-
Claustres, M.1
Kjellberg, P.2
Desgeorges, M.3
Bellet, H.4
Demaille, J.5
-
26
-
-
0026781879
-
Different mosaicism frequencies for proximal and distal duchenne muscular dystrophy (DMD) mutations indicate difference in etiology and recurrence risk
-
Passos-Bueno MR, Bakker E, Kneppers AL. Different mosaicism frequencies for proximal and distal Duchenne muscular dystrophy (DMD) mutations indicate difference in etiology and recurrence risk. Am J Hum Genet 1992: 51: 1150-1155.
-
(1992)
Am J Hum Genet
, vol.51
, pp. 1150-1155
-
-
Passos-Bueno, M.R.1
Bakker, E.2
Kneppers, A.L.3
-
27
-
-
0031041827
-
Familial lethal inheritance of a mutated paternal gene in females causing X-linked ornithine transcarbamylase (OTC) deficiency
-
Komaki S, Matsuura T, Oyanagi K, Hoshide R, Kiwaki K, Endo F, Shimadzu M, Matsuda I. Familial lethal inheritance of a mutated paternal gene in females causing X-linked ornithine transcarbamylase (OTC) deficiency. Am J Med Genet 1997: 69: 177-181.
-
(1997)
Am J Med Genet
, vol.69
, pp. 177-181
-
-
Komaki, S.1
Matsuura, T.2
Oyanagi, K.3
Hoshide, R.4
Kiwaki, K.5
Endo, F.6
Shimadzu, M.7
Matsuda, I.8
-
28
-
-
0025344968
-
Germline mosaicism simulates genetic heterogeneity in Wiskott-Aldrich syndrome
-
Arveiler B, de SaintBasile G, Fischer A, Griscelli C, Mandel JL. Germline mosaicism simulates genetic heterogeneity in Wiskott-Aldrich syndrome. Am J Hum Genet 1990: 46:906-911.
-
(1990)
Am J Hum Genet
, vol.46
, pp. 906-911
-
-
Arveiler, B.1
De SaintBasile, G.2
Fischer, A.3
Griscelli, C.4
Mandel, J.L.5
-
29
-
-
0028847795
-
Female germ line mosaicism as the origin of a unique IL-2 receptor gammachain mutation causing X-linked severe combined immunodeficiency
-
Puck JM. Pepper AE, Bedard PM, Laframboise R. Female germ line mosaicism as the origin of a unique IL-2 receptor gammachain mutation causing X-linked severe combined immunodeficiency. J Clin Invest 1995: 95: 443-444.
-
(1995)
J Clin Invest
, vol.95
, pp. 443-444
-
-
Puck, J.M.1
Pepper, A.E.2
Bedard, P.M.3
Laframboise, R.4
-
30
-
-
0030064039
-
Discordant segregation of Xq28 markers and a mutation in the L1 gene in a family with X linked hydrocephalus
-
Jouet M, Strain L, Bonthron D, Kenwrick S. Discordant segregation of Xq28 markers and a mutation in the L1 gene in a family with X linked hydrocephalus. J Med Genet 1996: 33: 248-250.
-
(1996)
J Med Genet
, vol.33
, pp. 248-250
-
-
Jouet, M.1
Strain, L.2
Bonthron, D.3
Kenwrick, S.4
-
31
-
-
0027016289
-
Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a mutation in the COL1A2 gene of type I collagen. The mosaic parent exhibits phenotypic features of a mild form of the disease
-
Edwards MJ, Wenstrup RJ, Byers PH. Cohn DH. Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a mutation in the COL1A2 gene of type I collagen. The mosaic parent exhibits phenotypic features of a mild form of the disease. Hum Mutat 1992: 1: 47-54.
-
(1992)
Hum Mutat
, vol.1
, pp. 47-54
-
-
Edwards, M.J.1
Wenstrup, R.J.2
Byers, P.H.3
Cohn, D.H.4
-
32
-
-
0028848110
-
Molecular characterization of the breakpoints of a 12-kb deletion in the NF1 gene in a family showing germline mosaicism
-
Lazaro C, Gaona A, Lynch M, Kruyer H. Ravella A, Estivill X. Molecular characterization of the breakpoints of a 12-kb deletion in the NF1 gene in a family showing germline mosaicism. Am J Hum Genet 1995: 57: 1044-1049.
-
(1995)
Am J Hum Genet
, vol.57
, pp. 1044-1049
-
-
Lazaro, C.1
Gaona, A.2
Lynch, M.3
Kruyer, H.4
Ravella, A.5
Estivill, X.6
-
33
-
-
0030789040
-
Counseling dilemmas associated with the molecular characterisation of two Angelman syndrome families
-
Gilbert HL, Buxton JL, Chan CT, McKay T, Cottrell S, Ramsden S, Winter RM, Pembrey ME, Malcolm S. Counseling dilemmas associated with the molecular characterisation of two Angelman syndrome families. J Med Genet 1997: 34: 651-655.
-
(1997)
J Med Genet
, vol.34
, pp. 651-655
-
-
Gilbert, H.L.1
Buxton, J.L.2
Chan, C.T.3
McKay, T.4
Cottrell, S.5
Ramsden, S.6
Winter, R.M.7
Pembrey, M.E.8
Malcolm, S.9
-
34
-
-
0030772273
-
Female germline mosaicism in tuberous sclerosis confirmed by molecular genetic analysis
-
Yates JR, van Bakel I, Sepp T, Payne SJ, Webb DW, Nevin NC, Green AJ. Female germline mosaicism in tuberous sclerosis confirmed by molecular genetic analysis. Hum Mol Genet 1997: 6: 2265-2269.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 2265-2269
-
-
Yates, J.R.1
Van Bakel, I.2
Sepp, T.3
Payne, S.J.4
Webb, D.W.5
Nevin, N.C.6
Green, A.J.7
-
35
-
-
0029791312
-
Germline mosaicism in 4q35 facioscapulohumeral muscular dystrophy (FSHD1A) occurring predominantly in oo-genesis
-
Kohler J, Rupilius B, Otto M, Bathke K, Koch MC. Germline mosaicism in 4q35 facioscapulohumeral muscular dystrophy (FSHD1A) occurring predominantly in oo-genesis. Hum Genet 1996: 98: 485-490.
-
(1996)
Hum Genet
, vol.98
, pp. 485-490
-
-
Kohler, J.1
Rupilius, B.2
Otto, M.3
Bathke, K.4
Koch, M.C.5
-
36
-
-
0024313863
-
Germinal mosaicism increases the recurrence risk for 'new' Duchenne muscular dystrophy mutations
-
Bakker E, Veenema H. Den Dunnen JT, van Broeckhoven C, Grootscholten PM, Bonten EJ, van Ommen GJ, Pearson PL. Germinal mosaicism increases the recurrence risk for 'new' Duchenne muscular dystrophy mutations. J Med Genet 1989: 26: 553-559.
-
(1989)
J Med Genet
, vol.26
, pp. 553-559
-
-
Bakker, E.1
Veenema, H.2
Den Dunnen, J.T.3
Van Broeckhoven, C.4
Grootscholten, P.M.5
Bonten, E.J.6
Van Ommen, G.J.7
Pearson, P.L.8
-
37
-
-
0031959590
-
Frequency of somatic and germline mosaicism in retinoblastoma: Implications for genetic counseling
-
Sippel KC, Fraioli RE, Smith GD, Schalkoff ME. Sutherland J. Gallic BL, Dryja TP. Frequency of somatic and germline mosaicism in retinoblastoma: implications for genetic counseling. Am J Hum Genet 1998: 62: 610-619.
-
(1998)
Am J Hum Genet
, vol.62
, pp. 610-619
-
-
Sippel, K.C.1
Fraioli, R.E.2
Smith, G.D.3
Schalkoff, M.E.4
Sutherland, J.5
Gallic, B.L.6
Dryja, T.P.7
-
38
-
-
0025002233
-
Theoretical considerations on germline mosaicism in Duchenne muscular dystrophy
-
Grimm T. Muller B, Muller CR, Janka M, Theoretical considerations on germline mosaicism in Duchenne muscular dystrophy. J Med Genet 1990: 27: 683-687.
-
(1990)
J Med Genet
, vol.27
, pp. 683-687
-
-
Grimm, T.1
Muller, B.2
Muller, C.R.3
Janka, M.4
-
39
-
-
0026879252
-
Potential pitfalls in using DNA probes to counsel Duchenne and Becker muscular dystrophy families
-
Shi YJ, Fischbeck KH. Ritter A. Potential pitfalls in using DNA probes to counsel Duchenne and Becker muscular dystrophy families. Chin Med J 1992: 105: 469-475.
-
(1992)
Chin Med J
, vol.105
, pp. 469-475
-
-
Shi, Y.J.1
Fischbeck, K.H.2
Ritter, A.3
|