-
1
-
-
0016815327
-
X-linked myotubular myopathy with fatal neonatal asphyxia
-
1. Barth P G, Van Wijngaarden G K, Bethlem J. X-linked myotubular myopathy with fatal neonatal asphyxia. Neurology 1975; 25: 531-536.
-
(1975)
Neurology
, vol.25
, pp. 531-536
-
-
Barth, P.G.1
Van Wijngaarden, G.K.2
Bethlem, J.3
-
3
-
-
0022870602
-
Severe neonatal centronuclear (myotubular) myopathy: An X-linked recessive disorder
-
3. Bucher H U, Boltshauser E, Briner J, Gnehm H E, Janzer R C. Severe neonatal centronuclear (myotubular) myopathy: an X-linked recessive disorder. Helv Paediat Acta 1986; 41: 291-300.
-
(1986)
Helv Paediat Acta
, vol.41
, pp. 291-300
-
-
Bucher, H.U.1
Boltshauser, E.2
Briner, J.3
Gnehm, H.E.4
Janzer, R.C.5
-
4
-
-
0023104957
-
X-linked centronuclear myopathy as a cause of floppy baby
-
4. Donders G, Moerman P, Devlieger B, Spitz B, Van Assche F A. X-linked centronuclear myopathy as a cause of floppy baby. Eur J Obstet Gynecol Reprod Biol 1987; 24: 33-38.
-
(1987)
Eur J Obstet Gynecol Reprod Biol
, vol.24
, pp. 33-38
-
-
Donders, G.1
Moerman, P.2
Devlieger, B.3
Spitz, B.4
Van Assche, F.A.5
-
5
-
-
0024345812
-
X-linked myotubular myopathy: Clinical and pathological findings in a family
-
5. Oldfors A, Kyllerman M, Wahlström J, Darnfors C, Henriksson K G. 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
Wahlström, J.3
Darnfors, C.4
Henriksson, K.G.5
-
6
-
-
0025599980
-
Severe neonatal asphyxia due to X-linked centronuclear myopathy
-
6. Braga S E, Gerber A, Meier C, et al. 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
-
7
-
-
0018320143
-
X-linked recessive congenital muscle fiber hypotrophy with central nuclei: Abnormalities of growth and adenylate cyclase in muscle tissue cultures
-
7. Askanas V, Engel W , Reddy N. X-linked recessive congenital muscle fiber hypotrophy with central nuclei: abnormalities of growth and adenylate cyclase in muscle tissue cultures. Arch Neurol 1979; 36: 604-609.
-
(1979)
Arch Neurol
, vol.36
, pp. 604-609
-
-
Askanas, V.1
Engel, W.2
Reddy, N.3
-
8
-
-
0025279786
-
Myotubular myopathy: Arrest of morphogenesis of myofibres associated with persistence of fetal vimentin and desmin
-
8. Sarnat H B. Myotubular myopathy: arrest of morphogenesis of myofibres associated with persistence of fetal vimentin and desmin. Can J Neurol Sci 1990; 17: 109-123.
-
(1990)
Can J Neurol Sci
, vol.17
, pp. 109-123
-
-
Sarnat, H.B.1
-
9
-
-
0026744205
-
Vimentin and desmin in maturing skeletal muscle and developmental myopathies
-
9. Sarnat H B. Vimentin and desmin in maturing skeletal muscle and developmental myopathies. Neurology 1992; 42: 1616-1624.
-
(1992)
Neurology
, vol.42
, pp. 1616-1624
-
-
Sarnat, H.B.1
-
10
-
-
0023263389
-
X-linked myotubular myopathy: Intrafamilial variability and normal muscle biopsy in a heterozygous female
-
10. Keppen L D, Husain M, Woody R C. X-linked myotubular myopathy: intrafamilial variability and normal muscle biopsy in a heterozygous female. Clin Genet 1987; 32: 95-99.
-
(1987)
Clin Genet
, vol.32
, pp. 95-99
-
-
Keppen, L.D.1
Husain, M.2
Woody, R.C.3
-
11
-
-
0025911043
-
Maternal muscle biopsy in X-linked recessive centronuclear (myotubular) myopathy
-
11. Breningstall G N, Grover W D, Marks H G. Maternal muscle biopsy in X-linked recessive centronuclear (myotubular) myopathy. Am J Med Genet 1991; 39: 13-18.
-
Am J Med Genet
, pp. 13-18
-
-
Breningstall, G.N.1
Grover, W.D.2
Marks, H.G.3
-
12
-
-
0001528331
-
X-linkage in myotubular myopathy (XLMTM): Evidence for linkage to Xq28 DNA markers
-
12. Thomas NST, Sarfarazi M, Roberts K, et al. X-linkage in myotubular myopathy (XLMTM): evidence for linkage to Xq28 DNA markers. Cytogenet Cell Genet 1987; 46: 314.
-
(1987)
Cytogenet Cell Genet
, vol.46
, pp. 314
-
-
Thomas, N.S.T.1
Sarfarazi, M.2
Roberts, K.3
-
13
-
-
0025273771
-
X-linked myotubular myopathy: A linkage study
-
13. Darnfors C, Larsson B, Oldfors A, et al. X-linked myotubular myopathy: a linkage study. Clin Genet 1990; 37: 335-340.
-
(1990)
Clin Genet
, vol.37
, pp. 335-340
-
-
Darnfors, C.1
Larsson, B.2
Oldfors, A.3
-
14
-
-
0025294930
-
X-linked neonatal myotubular myopathy: One recombination detected with four polymorphic DNA markers from xq28
-
14. Lehesjoki A E, Sankila E M, Miao J, et al. X-linked neonatal myotubular myopathy: one recombination detected with four polymorphic DNA markers from Xq28. J Med Genet 1990; 27: 288-291.
-
(1990)
J Med Genet
, vol.27
, pp. 288-291
-
-
Lehesjoki, A.E.1
Sankila, E.M.2
Miao, J.3
-
15
-
-
0025297247
-
A linkage study of a large pedigree with X-linked centronuclear myopathy
-
15. 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
-
16
-
-
0025300478
-
X-linked neonatal centronuclear/myotubular myopathy: Evidence for linkage to Xq28 DNA marker loci
-
16. Thomas NST, Williams H, Cole G, et al. X-linked neonatal 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
-
17
-
-
0026339262
-
X-linked centronuclear myopathy: Mapping the gene to Xq28
-
17. Liechti-Gallati S, Müller B, Grimm T, et al. X-linked centronuclear myopathy: mapping the gene to Xq28. Neuromusc Disord 1991; 1: 239-245.
-
(1991)
Neuromusc Disord
, vol.1
, pp. 239-245
-
-
Liechti-Gallati, S.1
Müller, B.2
Grimm, T.3
-
18
-
-
0028137765
-
Report on the 20th ENMC sponsored international workshop: Myotubular/centronuclear myopathy
-
18. Wallgren-Pettersson C, Thomas N S T. 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.S.T.2
-
19
-
-
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)
-
19. Dahl N, Samson F, Thomas N S T, et al. 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 1994; 31: 922-924.
-
(1994)
J Med Genet
, vol.31
, pp. 922-924
-
-
Dahl, N.1
Samson, F.2
Thomas, N.S.T.3
-
20
-
-
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
-
20. Dahl N, Hu L J, Chery M, et al. 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 Human Genet 1995; 56: 1108-1115.
-
(1995)
Am J Human Genet
, vol.56
, pp. 1108-1115
-
-
Dahl, N.1
Hu, L.J.2
Chery, M.3
-
21
-
-
1842353216
-
Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants
-
21. Kunkel L M, Smith K D, Boyer S H, et al. Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants. Proc Natl Acad Sci USA 1977; 74: 1245-1249.
-
(1977)
Proc Natl Acad Sci USA
, vol.74
, pp. 1245-1249
-
-
Kunkel, L.M.1
Smith, K.D.2
Boyer, S.H.3
-
22
-
-
0027256635
-
Dinucleotide repeat polymorphism close to IDS gene in Xq27.3-q28 (DXS1113)
-
22. Weber C, Oudet C, Johnson S, Pilia G, Schlessinger D, Hanauer A. Dinucleotide repeat polymorphism close to IDS gene in Xq27.3-q28 (DXS1113). Human Mol Genet 1993; 2: 612.
-
(1993)
Human Mol Genet
, vol.2
, pp. 612
-
-
Weber, C.1
Oudet, C.2
Johnson, S.3
Pilia, G.4
Schlessinger, D.5
Hanauer, A.6
-
23
-
-
0024420550
-
Linkage analysis of families with fragile-X mental retardation, using a novel RFLP marker (DXS304)
-
23. Dahl N, Goonewardena P, Malmgren H, et al. Linkage analysis of families with fragile-X mental retardation, using a novel RFLP marker (DXS304). Am J Human Genet 1989; 45: 304-309.
-
(1989)
Am J Human Genet
, vol.45
, pp. 304-309
-
-
Dahl, N.1
Goonewardena, P.2
Malmgren, H.3
-
24
-
-
0011838019
-
Further isolation, characterisation and physical localization of X chromosome RFLP markers, comparing VNTR directed and random isolation strategies
-
24. Barker D F, Dietz-Band J N, Donaldson C W, et al. Further isolation, characterisation and physical localization of X chromosome RFLP markers, comparing VNTR directed and random isolation strategies. Cytogenet Cell Genet 1989; 51: 958.
-
(1989)
Cytogenet Cell Genet
, vol.51
, pp. 958
-
-
Barker, D.F.1
Dietz-Band, J.N.2
Donaldson, C.W.3
-
25
-
-
0026571810
-
Isolation and characterisation of a highly polymorphic human locus (DXS455) in proximal Xq28
-
25. Consalez G, Stayton C, Freimer N, et al. Isolation and characterisation of a highly polymorphic human locus (DXS455) in proximal Xq28. Genomics 1992; 12: 710-714.
-
(1992)
Genomics
, vol.12
, pp. 710-714
-
-
Consalez, G.1
Stayton, C.2
Freimer, N.3
-
26
-
-
0024505923
-
A new polymorphic marker very closely linked to DXS52 in the q28 region of the human X chromosome
-
26. Vincent A, Kretz C, Oberlé I, Mandel J L. A new polymorphic marker very closely linked to DXS52 in the q28 region of the human X chromosome. Human Genet 1989; 82: 85-86.
-
(1989)
Human Genet
, vol.82
, pp. 85-86
-
-
Vincent, A.1
Kretz, C.2
Oberlé, I.3
Mandel, J.L.4
-
27
-
-
0023789408
-
Improved DNA markers for efficient analysis of fragile X families
-
27. Heilig R, Oberlé I, Arveiler B, Hanauer A, Vidaud M, Mandel J L. Improved DNA markers for efficient analysis of fragile X families. Am J Med Genet 1988; 30: 543-550.
-
(1988)
Am J Med Genet
, vol.30
, pp. 543-550
-
-
Heilig, R.1
Oberlé, I.2
Arveiler, B.3
Hanauer, A.4
Vidaud, M.5
Mandel, J.L.6
-
28
-
-
0011852954
-
New clinical observations in X-linked myotubular myopathy
-
September 1
-
28. Joseph M, Pai G S, Holden K, Herman G. New clinical observations in X-linked myotubular myopathy. Am J Med Genet 1994; September 1, H4: 396.
-
(1994)
Am J Med Genet
, vol.H4
, pp. 396
-
-
Joseph, M.1
Pai, G.S.2
Holden, K.3
Herman, G.4
-
29
-
-
0027936475
-
Report of the fifth international workshop on human X chromosome mapping 1994
-
29. Poustka A, Schlessinger D. Report of the fifth international workshop on human X chromosome mapping 1994. Cytogenet Cell Genet 1994; 67: 295-358.
-
(1994)
Cytogenet Cell Genet
, vol.67
, pp. 295-358
-
-
Poustka, A.1
Schlessinger, D.2
-
30
-
-
0028061372
-
The gene for X-linked myotubular myopathy is located in an 8 Mb region at the border of Xq27.3 and Xq28
-
30. Janssen E A, Hensels G W, van Oost B A, et al. The gene for X-linked myotubular myopathy is located in an 8 Mb region at the border of Xq27.3 and Xq28. Neuromusc Disord 1994; 4: 455-461.
-
(1994)
Neuromusc Disord
, vol.4
, pp. 455-461
-
-
Janssen, E.A.1
Hensels, G.W.2
Van Oost, B.A.3
-
31
-
-
0011804091
-
Human gene mapping 11: Report of the committee on the genetic constitution of the X chromosome
-
31. Davies K E, Mandel J L, Monaco A P, Nussbaum R L, Willard H F. Human gene mapping 11: Report of the committee on the genetic constitution of the X chromosome. Cytogenet Cell Genet 1991; 58: 861
-
(1991)
Cytogenet Cell Genet
, vol.58
, pp. 861
-
-
Davies, K.E.1
Mandel, J.L.2
Monaco, A.P.3
Nussbaum, R.L.4
Willard, H.F.5
-
32
-
-
0025940302
-
Physical map of human Xq27-qter: Localizing the region of the fragile X mutation
-
32. Poustka A, Dietrich A, Langenstein G, Toniolo D, Warren S T, Lehrach H. Physical map of human Xq27-qter: localizing the region of the fragile X mutation. Proc Natl Acad Sci USA 1991; 88: 8302-8306.
-
(1991)
Proc Natl Acad Sci USA
, vol.88
, pp. 8302-8306
-
-
Poustka, A.1
Dietrich, A.2
Langenstein, G.3
Toniolo, D.4
Warren, S.T.5
Lehrach, H.6
-
33
-
-
84968526917
-
Interstitial deletion at Xq27-q28 in a girl with X-linked centronuclear myopathy
-
33. Dahl N, Hu L, Chery M, et al. Interstitial deletion at Xq27-q28 in a girl with X-linked centronuclear myopathy. Cytogenet Cell Genet 1993; 64: 181.
-
(1993)
Cytogenet Cell Genet
, vol.64
, pp. 181
-
-
Dahl, N.1
Hu, L.2
Chery, M.3
|