-
1
-
-
0025836092
-
Genetic counselling in facioscapulohumeral muscular dystrophy
-
Lunt P.W., and Harper P.S. Genetic counselling in facioscapulohumeral muscular dystrophy. J Med Genet 28 (1991) 655-664
-
(1991)
J Med Genet
, vol.28
, pp. 655-664
-
-
Lunt, P.W.1
Harper, P.S.2
-
2
-
-
0028280848
-
Facioscapulohumeral muscular dystrophy (FSHD): design of natural history study and results of baseline testing, FSH-DY group
-
Tawil R., McDermott M.P., Mendell J.R., Kissel J., and Griggs R.C. Facioscapulohumeral muscular dystrophy (FSHD): design of natural history study and results of baseline testing, FSH-DY group. Neurology 44 (1994) 442-446
-
(1994)
Neurology
, vol.44
, pp. 442-446
-
-
Tawil, R.1
McDermott, M.P.2
Mendell, J.R.3
Kissel, J.4
Griggs, R.C.5
-
3
-
-
0028959638
-
Phenotypic-genotypic correlation will assist genetic counseling in 4q35-facioscapulohumeral muscular dystrophy
-
Lunt P.W., Jardine P.E., Koch M., et al. Phenotypic-genotypic correlation will assist genetic counseling in 4q35-facioscapulohumeral muscular dystrophy. Muscle Nerve 2 (1995) S103-S109
-
(1995)
Muscle Nerve
, vol.2
-
-
Lunt, P.W.1
Jardine, P.E.2
Koch, M.3
-
4
-
-
0028918407
-
Facioscapulohumeral muscular dystrophy in the Dutch population
-
Padberg G.W., Frants R.R., Brouwer O.F., Wijmenga C., Bakker E., and Sandkuijl L.A. Facioscapulohumeral muscular dystrophy in the Dutch population. Muscle Nerve 2 (1995) S81-S84
-
(1995)
Muscle Nerve
, vol.2
-
-
Padberg, G.W.1
Frants, R.R.2
Brouwer, O.F.3
Wijmenga, C.4
Bakker, E.5
Sandkuijl, L.A.6
-
5
-
-
0026693595
-
The mapping of chromosome 4q markers in relation to facioscapulohumeral muscular dystrophy (FSHD)
-
Upadhyaya M., Lunt P., Sarfarazi M., Broadhead W., Farnham J., and Harper P.S. The mapping of chromosome 4q markers in relation to facioscapulohumeral muscular dystrophy (FSHD). Am J Hum Genet 51 (1992) 404-410
-
(1992)
Am J Hum Genet
, vol.51
, pp. 404-410
-
-
Upadhyaya, M.1
Lunt, P.2
Sarfarazi, M.3
Broadhead, W.4
Farnham, J.5
Harper, P.S.6
-
6
-
-
0026922062
-
Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy
-
Wijmenga C., Hewitt J.E., Sandkuijl L.A., et al. Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy. Nat Genet 2 (1992) 26-30
-
(1992)
Nat Genet
, vol.2
, pp. 26-30
-
-
Wijmenga, C.1
Hewitt, J.E.2
Sandkuijl, L.A.3
-
7
-
-
0028040601
-
Analysis of the tandem repeat locus D4Z4 associated with facioscapulohumeral muscular dystrophy
-
Hewitt J.E., Lyle R., Clark L.N., et al. Analysis of the tandem repeat locus D4Z4 associated with facioscapulohumeral muscular dystrophy. Hum Mol Genet 3 (1994) 1287-1295
-
(1994)
Hum Mol Genet
, vol.3
, pp. 1287-1295
-
-
Hewitt, J.E.1
Lyle, R.2
Clark, L.N.3
-
8
-
-
0031777331
-
Epilepsy and mental retardation in a subset of early onset 4q35-facioscapulohumeral muscular dystrophy
-
Funakoshi M., Goto K., and Arahata K. Epilepsy and mental retardation in a subset of early onset 4q35-facioscapulohumeral muscular dystrophy. Neurology 50 (1998) 1791-1794
-
(1998)
Neurology
, vol.50
, pp. 1791-1794
-
-
Funakoshi, M.1
Goto, K.2
Arahata, K.3
-
9
-
-
0031670986
-
Two cases of chromosome 4q35-linked early onset facioscapulohumeral muscular dystrophy with mental retardation and epilepsy
-
Miura K., Kumagai T., Matsumoto A., et al. Two cases of chromosome 4q35-linked early onset facioscapulohumeral muscular dystrophy with mental retardation and epilepsy. Neuropediatrics 29 (1998) 239-241
-
(1998)
Neuropediatrics
, vol.29
, pp. 239-241
-
-
Miura, K.1
Kumagai, T.2
Matsumoto, A.3
-
10
-
-
0035998290
-
Molecular diagnosis of facioscapulohumeral muscular dystrophy
-
Upadhyaya M., and Cooper D.N. Molecular diagnosis of facioscapulohumeral muscular dystrophy. Expert Rev Mol Diagn 2 (2002) 160-171
-
(2002)
Expert Rev Mol Diagn
, vol.2
, pp. 160-171
-
-
Upadhyaya, M.1
Cooper, D.N.2
-
11
-
-
2542517804
-
Somatic mosaicism in FSHD often goes undetected
-
Lemmers R.J., van der Wielen M.J., Bakker E., Padberg G.W., Frants R.R., and van der Maarel S.M. Somatic mosaicism in FSHD often goes undetected. Ann Neurol 55 (2004) 845-850
-
(2004)
Ann Neurol
, vol.55
, pp. 845-850
-
-
Lemmers, R.J.1
van der Wielen, M.J.2
Bakker, E.3
Padberg, G.W.4
Frants, R.R.5
van der Maarel, S.M.6
-
12
-
-
1442283862
-
Very low penetrance in 85 Japanese families with facioscapulohumeral muscular dystrophy 1A
-
Goto K., Nishino I., and Hayashi Y.K. Very low penetrance in 85 Japanese families with facioscapulohumeral muscular dystrophy 1A. J Med Genet 41 (2004) e12
-
(2004)
J Med Genet
, vol.41
-
-
Goto, K.1
Nishino, I.2
Hayashi, Y.K.3
-
13
-
-
0029812441
-
Analysis of the organisation and localisation of the FSHD-associated tandem array in primates: implications for the origin and evolution of the 3.3 kb repeat family
-
Clark L.N., Koehler U., Ward D.C., Wienberg J., and Hewitt J.E. Analysis of the organisation and localisation of the FSHD-associated tandem array in primates: implications for the origin and evolution of the 3.3 kb repeat family. Chromosoma 105 (1996) 180-189
-
(1996)
Chromosoma
, vol.105
, pp. 180-189
-
-
Clark, L.N.1
Koehler, U.2
Ward, D.C.3
Wienberg, J.4
Hewitt, J.E.5
-
14
-
-
0037151784
-
Human genome dispersal and evolution of 4q35 duplications and interspersed LSau repeats
-
Ballarati L., Piccini I., Carbone L., et al. Human genome dispersal and evolution of 4q35 duplications and interspersed LSau repeats. Gene 296 (2002) 21-27
-
(2002)
Gene
, vol.296
, pp. 21-27
-
-
Ballarati, L.1
Piccini, I.2
Carbone, L.3
-
15
-
-
0029041708
-
Physical mapping evidence for a duplicated region on chromosome 10qter showing high homology with the facioscapulohumeral muscular dystrophy locus on chromosome 4qter
-
Deidda G., Cacurri S., Grisanti P., Vigneti E., Piazzo N., and Felicetti L. Physical mapping evidence for a duplicated region on chromosome 10qter showing high homology with the facioscapulohumeral muscular dystrophy locus on chromosome 4qter. Eur J Hum Genet 3 (1995) 155-167
-
(1995)
Eur J Hum Genet
, vol.3
, pp. 155-167
-
-
Deidda, G.1
Cacurri, S.2
Grisanti, P.3
Vigneti, E.4
Piazzo, N.5
Felicetti, L.6
-
16
-
-
0035707952
-
Genomic analysis of human chromosome 10q and 4q telomeres suggests a common origin
-
van Geel M., Dickson M.C., Beck A.F., et al. Genomic analysis of human chromosome 10q and 4q telomeres suggests a common origin. Genomics 79 (2002) 210-217
-
(2002)
Genomics
, vol.79
, pp. 210-217
-
-
van Geel, M.1
Dickson, M.C.2
Beck, A.F.3
-
17
-
-
2642534599
-
Chromosome 4q;10q translocations; comparison with different ethnic populations and FSHD patients
-
Matsumura T., Goto K., Yamanaka G., et al. Chromosome 4q;10q translocations; comparison with different ethnic populations and FSHD patients. BMC Neurol 2 (2002) 7
-
(2002)
BMC Neurol
, vol.2
, pp. 7
-
-
Matsumura, T.1
Goto, K.2
Yamanaka, G.3
-
18
-
-
7344231685
-
Inter- and intrachromosomal sub-telomeric rearrangements on 4q35: implications for facioscapulohumeral muscular dystrophy (FSHD) aetiology and diagnosis
-
Lemmers R.J., van der Maarel S.M., van Deutekom J.C., et al. Inter- and intrachromosomal sub-telomeric rearrangements on 4q35: implications for facioscapulohumeral muscular dystrophy (FSHD) aetiology and diagnosis. Hum Mol Genet 7 (1998) 1207-1214
-
(1998)
Hum Mol Genet
, vol.7
, pp. 1207-1214
-
-
Lemmers, R.J.1
van der Maarel, S.M.2
van Deutekom, J.C.3
-
19
-
-
0029913030
-
Direct detection of 4q35 rearrangements implicated in facioscapulohumeral muscular dystrophy (FSHD)
-
Deidda G., Cacurri S., Piazzo N., and Felicetti L. Direct detection of 4q35 rearrangements implicated in facioscapulohumeral muscular dystrophy (FSHD). J Med Genet 33 (1996) 361-365
-
(1996)
J Med Genet
, vol.33
, pp. 361-365
-
-
Deidda, G.1
Cacurri, S.2
Piazzo, N.3
Felicetti, L.4
-
20
-
-
0028925370
-
Characterization of a tandemly repeated 3.3-kb KpnI unit in the facioscapulohumeral muscular dystrophy (FSHD) gene region on chromosome 4q35
-
Lee J.H., Goto K., Matsuda C., and Arahata K. Characterization of a tandemly repeated 3.3-kb KpnI unit in the facioscapulohumeral muscular dystrophy (FSHD) gene region on chromosome 4q35. Muscle Nerve 2 (1995) S6-S13
-
(1995)
Muscle Nerve
, vol.2
-
-
Lee, J.H.1
Goto, K.2
Matsuda, C.3
Arahata, K.4
|