-
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. 4, 71-74 (1994).
-
(1994)
Neuromusc. Disord.
, vol.4
, pp. 71-74
-
-
Wallgren-Pettersson, C.1
Thomas, N.2
-
2
-
-
0001960683
-
Congenital Myopathies
-
(eds Mastaglia, F.L. & Walton of Detchant) Edinburgh, Churchill Livingstone
-
Fardeau, M. Congenital Myopathies, in Skeletal muscle Pathology (eds Mastaglia, F.L. & Walton of Detchant) (Edinburgh, Churchill Livingstone, 1992).
-
(1992)
Skeletal Muscle Pathology
-
-
Fardeau, M.1
-
3
-
-
0025279786
-
Myotubular Myopathy: Arrest of morphogenesis of myofibers associated with persistence of fetal vimentine and desmin. Four cases compared with fetal and neonatal muscle
-
Sarnat, H.B. Myotubular Myopathy: arrest of morphogenesis of myofibers associated with persistence of fetal vimentine and desmin. Four cases compared with fetal and neonatal muscle. Can. J. Neurol. Sci. 17, 109-123 (1990).
-
(1990)
Can. J. Neurol. Sci.
, vol.17
, pp. 109-123
-
-
Sarnat, H.B.1
-
4
-
-
0026099236
-
Certronuclear myopathy heterogeneity: Distinction of clinical types by myosin isoform patterns
-
Sawchak, JA, Sher, J.H., Norman, M.G., Kula, R.W. & Shafiq, S.A. Certronuclear myopathy heterogeneity: distinction of clinical types by myosin isoform patterns. Neurol. 41, 135-140 (1991).
-
(1991)
Neurol.
, vol.41
, pp. 135-140
-
-
Sawchak, J.A.1
Sher, J.H.2
Norman, M.G.3
Kula, R.W.4
Shafiq, S.A.5
-
5
-
-
0029023971
-
The Myotubular myopathies: Differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present stale of DNA studies
-
Wallgren-Pettersson, C. et al. The Myotubular myopathies: differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present stale of DNA studies. J. Med. Genet. 32, 673-679 (1995).
-
(1995)
J. Med. Genet.
, vol.32
, pp. 673-679
-
-
Wallgren-Pettersson, C.1
-
6
-
-
0022411641
-
Congenital centronuclear (myotubular) myopathy: A clinical, pathological and genetic study in eight children
-
Heckmatt, J.Z., Sewry, C.A., Hodes, D. & Dubowitz, V. Congenital centronuclear (myotubular) myopathy: a clinical, pathological and genetic study in eight children. Brain 108, 941-964 (1985).
-
(1985)
Brain
, vol.108
, pp. 941-964
-
-
Heckmatt, J.Z.1
Sewry, C.A.2
Hodes, D.3
Dubowitz, V.4
-
7
-
-
0025300478
-
X-linked centronuclear/myotabular myopathy: Evidence for linkage to Xq28 DNA marker loci
-
Thomas, N. et al. X-linked centronuclear/myotabular myopathy: evidence for linkage to Xq28 DNA marker loci. J. Med. Genet. 27, 284-287 (1990).
-
(1990)
J. Med. Genet.
, vol.27
, pp. 284-287
-
-
Thomas, N.1
-
8
-
-
0025273771
-
X-linked myotubular myopathy: A linkage study
-
Damfors, C. et al. X-linked myotubular myopathy: a linkage study. Clin. Genet. 37, 335-340 (1990).
-
(1990)
Clin. Genet.
, vol.37
, pp. 335-340
-
-
Damfors, C.1
-
9
-
-
0025294930
-
X-linked neonatal myotubular myopathy: One recombination detected with four polymorphic DNA markers from Xq28
-
Lehesjoki, A.E. et al. X-linked neonatal myotubular myopathy: one recombination detected with four polymorphic DNA markers from Xq28. J. Med. Genet. 27, 288-291 (1990).
-
(1990)
J. Med. Genet.
, vol.27
, pp. 288-291
-
-
Lehesjoki, A.E.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. 27, 281-283 (1990).
-
(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
-
-
0026339262
-
X-linked centronuclear myopathy: Mapping the gene to Xq28
-
Liechti-Gallati, S. et al. X-linked centronuclear myopathy: mapping the gene to Xq28. Neuromusc. Disord. 4, 239-245 (1991).
-
(1991)
Neuromusc. Disord.
, vol.4
, pp. 239-245
-
-
Liechti-Gallati, S.1
-
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. 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. 4, 455-461 (1994).
-
(1994)
Neuromusc. Disord.
, vol.4
, pp. 455-461
-
-
Janssen, E.A.1
-
13
-
-
0028606338
-
X linked myotubular myopathy (MTM1) maps between DXS304 and DXS305, closely linked to the DXS455 VNTR and a new, highly informative microsatellile marker (DXS1684)
-
Dahl, N. et al. X linked myotubular myopathy (MTM1) maps between DXS304 and DXS305, closely linked to the DXS455 VNTR and a new, highly informative microsatellile marker (DXS1684). J. Med. Genet. 31, 922-924 (1994).
-
(1994)
J. Med. Genet.
, vol.31
, pp. 922-924
-
-
Dahl, N.1
-
14
-
-
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. 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. Hum. Genet. 56, 1108-1115 (1995).
-
(1995)
Am. J. Hum. Genet.
, vol.56
, pp. 1108-1115
-
-
Dahl, N.1
-
15
-
-
9044248231
-
Deletions in Xq28 in two boys with Myotubular myopathy and abnormal genital development define a new contiguous gene syndrome in a 430 kb region
-
Hu, L.J. et al. Deletions in Xq28 in two boys with Myotubular myopathy and abnormal genital development define a new contiguous gene syndrome in a 430 kb region. Hum. Mol. Genet. 5, 139-143 (1996).
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 139-143
-
-
Hu, L.J.1
-
16
-
-
84920295483
-
A 900-kb cosmid contig and 1à new transcripts within the candidate region for myotubular myopathy (MTM1)
-
in the press
-
Kioschis, P. et al. A 900-kb cosmid contig and 1à new transcripts within the candidate region for myotubular myopathy (MTM1). Genomics (in the press).
-
Genomics
-
-
Kioschis, P.1
-
17
-
-
84920295482
-
X-linked myotubular myopathy: Refinement of the gene to a 280 kb region with new and highly informative microsatellite markers
-
in the press
-
Hu, L.J. et al. X-linked myotubular myopathy: refinement of the gene to a 280 kb region with new and highly informative microsatellite markers. Hum. Genet. (in the press).
-
Hum. Genet.
-
-
Hu, L.J.1
-
18
-
-
0026894333
-
A strategy for the selection of transcribed sequences in Xq28 region
-
Kom, B. et al. A strategy for the selection of transcribed sequences in Xq28 region. Hum. Mol. Genet. 4, 235-242 (1992).
-
(1992)
Hum. Mol. Genet.
, vol.4
, pp. 235-242
-
-
Kom, B.1
-
19
-
-
0027368589
-
Construction of a 300 kb region around the human G6PD locus by direct cDNA selection
-
Sedlacek, Z. et al. Construction of a 300 kb region around the human G6PD locus by direct cDNA selection. Hum. Mol. Genet. 11, 1865-1869 (1993).
-
(1993)
Hum. Mol. Genet.
, vol.11
, pp. 1865-1869
-
-
Sedlacek, Z.1
-
20
-
-
0025860287
-
Exon amplification: A strategy to isolate mammalian genes based on RNA splicing
-
Buckler, A.J. et al. Exon amplification: a strategy to isolate mammalian genes based on RNA splicing. Proc. Natl. Acad. Sci. USA 88, 4005-4009 (1991).
-
(1991)
Proc. Natl. Acad. Sci. USA
, vol.88
, pp. 4005-4009
-
-
Buckler, A.J.1
-
21
-
-
0028352313
-
Isolation of genes from complex sources of mammalian genomic DNA using exon amplification
-
Church, D.M. et al. Isolation of genes from complex sources of mammalian genomic DNA using exon amplification. Nature Genet. 6, 98-105 (1994).
-
(1994)
Nature Genet.
, vol.6
, pp. 98-105
-
-
Church, D.M.1
-
22
-
-
0029167302
-
Complete sequence of a 38. 4-kb human cosmid insert containing the polymorphic marker DXS455 from Xq28
-
Andersson, B., Lu, F., Muzny, D.M., Warren, S.T. & Gibbs, R.A. Complete sequence of a 38. 4-kb human cosmid insert containing the polymorphic marker DXS455 from Xq28. DNA Seq. 5, 219-223 (1995).
-
(1995)
DNA Seq.
, vol.5
, pp. 219-223
-
-
Andersson, B.1
Lu, F.2
Muzny, D.M.3
Warren, S.T.4
Gibbs, R.A.5
-
23
-
-
0026351408
-
Locating protein-coding regions in human DNA sequences by a multiple sensor-neural approach
-
Uberbacher, E.C. & Mural, R.J. Locating protein-coding regions in human DNA sequences by a multiple sensor-neural approach. Proc. Natl. Acad. Sci. USA 88, 11261-11265 (1991).
-
(1991)
Proc. Natl. Acad. Sci. USA
, vol.88
, pp. 11261-11265
-
-
Uberbacher, E.C.1
Mural, R.J.2
-
24
-
-
0028185620
-
Recognizing exons in genomic sequence using GRAIL II
-
Xu, Y., Mural, R., Shah, M. & Uberbacher, E. Recognizing exons in genomic sequence using GRAIL II. Genet. Eng. (N.Y.) 16, 241-253 (1994).
-
(1994)
Genet. Eng. (N.Y.)
, vol.16
, pp. 241-253
-
-
Xu, Y.1
Mural, R.2
Shah, M.3
Uberbacher, E.4
-
25
-
-
0028618270
-
Predicting internal exons by oligonucleotide composition and discriminant analysis of spliceable open reading frames
-
Solovyev, V.V., Salamov, A.A. & Lawrence, C.B. Predicting internal exons by oligonucleotide composition and discriminant analysis of spliceable open reading frames. Nucl. Acids Res. 22, 5156-6163 (1994).
-
(1994)
Nucl. Acids Res.
, vol.22
, pp. 5156-6163
-
-
Solovyev, V.V.1
Salamov, A.A.2
Lawrence, C.B.3
-
26
-
-
0026084867
-
Waisman syndrome, a human X-linked recessive basal ganglia disorder with mental retardation: Localization to Xq27.3-qter
-
Gregg, R.G., Metzenberg, A.B., Hogan, K., Sekhon, G. & Laxova, R. Waisman syndrome, a human X-linked recessive basal ganglia disorder with mental retardation: localization to Xq27.3-qter. Genomics 9, 701-706 (1991).
-
(1991)
Genomics
, vol.9
, pp. 701-706
-
-
Gregg, R.G.1
Metzenberg, A.B.2
Hogan, K.3
Sekhon, G.4
Laxova, R.5
-
27
-
-
0025884456
-
Localisation of the MRX3 gene for non-specific X linked mental retardation
-
Gedeon, A., Kerr, B., Mulley, J. & Turner, G. Localisation of the MRX3 gene for non-specific X linked mental retardation. J. Med. Genet. 28, 372-377 (1991).
-
(1991)
J. Med. Genet.
, vol.28
, pp. 372-377
-
-
Gedeon, A.1
Kerr, B.2
Mulley, J.3
Turner, G.4
-
28
-
-
0026409402
-
Oto-palato-digital syndrome type I: Further evidence for assignement of the locus to Xq28
-
Biancalana, V., Le Marec, B., Odent, S., Van den Hurk, J.A.M.J. & Hanauer, A. Oto-palato-digital syndrome type I: further evidence for assignement of the locus to Xq28. Hum. Genet. 88, 228-230 (1991).
-
(1991)
Hum. Genet.
, vol.88
, pp. 228-230
-
-
Biancalana, V.1
Le Marec, B.2
Odent, S.3
Van Den Hurk, J.A.M.J.4
Hanauer, A.5
-
29
-
-
0028099633
-
YAC contig organization and CpG island analysis in Xq28
-
Palmieri, G. et al. YAC contig organization and CpG island analysis in Xq28. Genomics 24, 149-168 (1994).
-
(1994)
Genomics
, vol.24
, pp. 149-168
-
-
Palmieri, G.1
-
30
-
-
0025183708
-
Basis local alignment search tool
-
Altschul, S.F., Gish, W., Miller, W., Myers, E.W. & Lipman, D.J. Basis local alignment search tool. J. Mol. Biol. 215, 403-410 (1990).
-
(1990)
J. Mol. Biol.
, vol.215
, pp. 403-410
-
-
Altschul, S.F.1
Gish, W.2
Miller, W.3
Myers, E.W.4
Lipman, D.J.5
-
31
-
-
0026324171
-
Protein tyrosine phosphatases: A diverse family of intracellular and transmembrane enzymes
-
Fischer, E.H., Charbonneau, H. & Tonks, N.K. Protein tyrosine phosphatases: a diverse family of intracellular and transmembrane enzymes. Science 253, 401-406 (1991).
-
(1991)
Science
, vol.253
, pp. 401-406
-
-
Fischer, E.H.1
Charbonneau, H.2
Tonks, N.K.3
-
32
-
-
0028009549
-
Protein tyrosine phosphatases: Characterization of extracellular and intracellular domains
-
Mourey, R.J. & Dixon, J.E. Protein tyrosine phosphatases: characterization of extracellular and intracellular domains. Curr. Opin. Genet. Dev. 4, 31-39 (1994).
-
(1994)
Curr. Opin. Genet. Dev.
, vol.4
, pp. 31-39
-
-
Mourey, R.J.1
Dixon, J.E.2
-
33
-
-
0027532282
-
Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters
-
Mosser, J. et al. Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters. Nature 361, 726-730 (1993).
-
(1993)
Nature
, vol.361
, pp. 726-730
-
-
Mosser, J.1
-
34
-
-
0028221943
-
Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer
-
Bronner, C.E. et al. Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer. Nature 368, 258-261 (1994).
-
(1994)
Nature
, vol.368
, pp. 258-261
-
-
Bronner, C.E.1
-
35
-
-
0028133514
-
Genes conserved in yeast and humans
-
Tugerdreich, S., Bassett, D.E., McKusick, V.A., Boguski, M.S. & Hieter, P. Genes conserved in yeast and humans. Hum. Mol. Genet. 3, 1509-1517 (1994).
-
(1994)
Hum. Mol. Genet.
, vol.3
, pp. 1509-1517
-
-
Tugerdreich, S.1
Bassett, D.E.2
McKusick, V.A.3
Boguski, M.S.4
Hieter, P.5
-
36
-
-
0027721423
-
Introduction: Protein tyrosine phosphatases
-
Tonks, N.K. Introduction: protein tyrosine phosphatases. Semin. Cell Biol. 4, 373-377 (1993).
-
(1993)
Semin. Cell Biol.
, vol.4
, pp. 373-377
-
-
Tonks, N.K.1
-
37
-
-
0029076864
-
Genetic linkage heterogeneity in myotubular myopathy
-
Samson, F. et al. Genetic linkage heterogeneity in myotubular myopathy. Am. J. Hum. Genet. 57, 120-126 (1995).
-
(1995)
Am. J. Hum. Genet.
, vol.57
, pp. 120-126
-
-
Samson, F.1
-
38
-
-
0027947521
-
All muscles are not created equal
-
Donoghue, M.J. & Sanes, J.R. All muscles are not created equal. Trends. Genet. 10, 396-401 (1994).
-
(1994)
Trends. Genet.
, vol.10
, pp. 396-401
-
-
Donoghue, M.J.1
Sanes, J.R.2
-
39
-
-
0026067041
-
Hormones, growth factors, and mycgenic differentiation
-
Florini, J.R., Ewton, D.Z. & Magri, K.A. Hormones, growth factors, and mycgenic differentiation. Annu. Rev. Physiol. 53, 201-216 (1991).
-
(1991)
Annu. Rev. Physiol.
, vol.53
, pp. 201-216
-
-
Florini, J.R.1
Ewton, D.Z.2
Magri, K.A.3
-
40
-
-
0029160025
-
Receptor tyrosine kinase specific for the skeletal muscle lineage: Expression in embryonic muscle, at the neuromuscular junction, and after injury
-
Valenzuela, D.M. et al. Receptor tyrosine kinase specific for the skeletal muscle lineage: expression in embryonic muscle, at the neuromuscular junction, and after injury. Neuron 15, 573-584 (1995).
-
(1995)
Neuron
, vol.15
, pp. 573-584
-
-
Valenzuela, D.M.1
-
41
-
-
0027140480
-
Tumor suppression by RNA from the 3′ untranslated region of alpha-tropomyosin
-
Rastinejad, F., Conboy, M.J., Rando, T.A. & Blau, H.M. Tumor suppression by RNA from the 3′ untranslated region of alpha-tropomyosin. Cell 75, 1107-1117 (1993).
-
(1993)
Cell
, vol.75
, pp. 1107-1117
-
-
Rastinejad, F.1
Conboy, M.J.2
Rando, T.A.3
Blau, H.M.4
-
42
-
-
0024284028
-
A simple salting out method for extracting DNA from human nucleated cells
-
Miller, S., Dykes, D. & Polesky, H. A simple salting out method for extracting DNA from human nucleated cells. Nucl. Acids Res. 16, 1215 (1988).
-
(1988)
Nucl. Acids Res.
, vol.16
, pp. 1215
-
-
Miller, S.1
Dykes, D.2
Polesky, H.3
-
43
-
-
0022631333
-
Characterization of a set of X-linked sequences and of a panel of somatic cell hybrids useful for the regional mapping of the human X chromosome
-
Oberle, I, et al. Characterization of a set of X-linked sequences and of a panel of somatic cell hybrids useful for the regional mapping of the human X chromosome. Hum. Genet. 72, 43-49 (1986).
-
(1986)
Hum. Genet.
, vol.72
, pp. 43-49
-
-
Oberle, I.1
-
44
-
-
0029081674
-
Gene-based sequence-togged-sites (STSs) as the basis for a human gene map
-
Berry, R. et al. Gene-based sequence-togged-sites (STSs) as the basis for a human gene map. Nature Genet. 10, 415-423 (1995).
-
(1995)
Nature Genet.
, vol.10
, pp. 415-423
-
-
Berry, R.1
-
45
-
-
84920295481
-
Identification of 4,370 expressed sequence tags (ESTs) from a 3′-end specific cDNA library of human skeletal muscle by DNA sequencing and filter hybridization
-
in the press
-
Lanfranchi, G. et al. Identification of 4,370 expressed sequence tags (ESTs) from a 3′-end specific cDNA library of human skeletal muscle by DNA sequencing and filter hybridization. Genome Res. (in the press).
-
Genome Res.
-
-
Lanfranchi, G.1
-
46
-
-
0028148889
-
Mutations in the BRCA1 gene in families with early-onset breast and ovarian cancer
-
Castilla, L.H. et al. Mutations in the BRCA1 gene in families with early-onset breast and ovarian cancer. Nature Genet. 8, 387-391 (1994).
-
(1994)
Nature Genet.
, vol.8
, pp. 387-391
-
-
Castilla, L.H.1
-
47
-
-
0028295681
-
2.2 Mb of contiguous nucleotide sequence from chromosome III of C. elegans
-
Wilson, R. et al. 2.2 Mb of contiguous nucleotide sequence from chromosome III of C. elegans. Nature 388, 32-38 (1994).
-
(1994)
Nature
, vol.388
, pp. 32-38
-
-
Wilson, R.1
-
48
-
-
0023057529
-
Sigma factors from E. coli, B. subtilis, phage SP01, and phage T4 are homologous proteins
-
Gribskov, M. & Burgess, R.R. Sigma factors from E. coli, B. subtilis, phage SP01, and phage T4 are homologous proteins. Nucl. Acids Res. 14, 6745-6763 (1986).
-
(1986)
Nucl. Acids Res.
, vol.14
, pp. 6745-6763
-
-
Gribskov, M.1
Burgess, R.R.2
-
49
-
-
0027930455
-
Molecular cloning and identification of a receptor-type protein tyrosine phosphatase, IA-2, from human insulinoma
-
Lan, M.S., Lu, J., Goto, Y. & Notkins, A. L. Molecular cloning and identification of a receptor-type protein tyrosine phosphatase, IA-2, from human insulinoma. DNA Cell Biol. 13, 505-514 (1994).
-
(1994)
DNA Cell Biol.
, vol.13
, pp. 505-514
-
-
Lan, M.S.1
Lu, J.2
Goto, Y.3
Notkins, A.L.4
-
50
-
-
0025858161
-
Isolation of a cDNA clone encoding a human protein-tyrosine phosphatase with homology to the cytoskeletal-associated proteins band 4. 1, erzin, and talin
-
Yang, Q. & Tonks, N.K. Isolation of a cDNA clone encoding a human protein-tyrosine phosphatase with homology to the cytoskeletal-associated proteins band 4. 1, erzin, and talin. Proc. Natl. Acad. Sci. USA 88, 5949-5953 (1991).
-
(1991)
Proc. Natl. Acad. Sci. USA
, vol.88
, pp. 5949-5953
-
-
Yang, Q.1
Tonks, N.K.2
-
51
-
-
0024378995
-
A family of receptor-linked protein tyrosine phosphatases in humans and Drosophila
-
Streuli, M., Kiueger, N.X., Tsai, A.Y.M. & Saito, H. A family of receptor-linked protein tyrosine phosphatases in humans and Drosophila. Proc. Natl. Acad. Sci. USA 86, 8698-8702 (1989).
-
(1989)
Proc. Natl. Acad. Sci. USA
, vol.86
, pp. 8698-8702
-
-
Streuli, M.1
Kiueger, N.X.2
Tsai, A.Y.M.3
Saito, H.4
-
52
-
-
0028072616
-
Identication of a hormonally regulated protein tyrosine phosphatase associated with bone and testicular differenciation
-
Mauro, L.J. et al. Identication of a hormonally regulated protein tyrosine phosphatase associated with bone and testicular differenciation. J. Biol. Chem. 269, 30659-30667 (1994).
-
(1994)
J. Biol. Chem.
, vol.269
, pp. 30659-30667
-
-
Mauro, L.J.1
|