-
1
-
-
0026922062
-
Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy
-
Wijmenga C, Hewitt JE, Sandkuijl LA, Clark LN, Wright TJ, Dauwerse HG, Gruter AM, Hofker MH, Moerer P, Williamson R, et al: Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy. Nature Genet 1992, 2:26-30
-
(1992)
Nature Genet.
, vol.2
, pp. 26-30
-
-
Wijmenga, C.1
Hewitt, J.E.2
Sandkuijl, L.A.3
Clark, L.N.4
Wright, T.J.5
Dauwerse, H.G.6
Gruter, A.M.7
Hofker, M.H.8
Moerer, P.9
Williamson, R.10
-
2
-
-
0027744223
-
FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit
-
van Deutekom JCT, Wijmenga C, van Tienhoven EA, Gruter AM, Hewitt JE, Padberg GW, van Ommen GJB, Hofker MH, Frants RR: FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit. Hum Mol Genet 1993, 2:2037-2042
-
(1993)
Hum. Mol. Genet.
, vol.2
, pp. 2037-2042
-
-
van Deutekom, J.C.T.1
Wijmenga, C.2
van Tienhoven, E.A.3
Gruter, A.M.4
Hewitt, J.E.5
Padberg, G.W.6
van Ommen, G.J.B.7
Hofker, M.H.8
Frants, R.R.9
-
3
-
-
0029017568
-
DNA rearrangements in Japanese facioscapulohumeral muscular dystrophy patients: Clinical correlations
-
Goto K, Lee JH, Matsuda C, Hirabayashi K, Kojo T, Nakamura A, Mitsunaga Y, Furukawa T, Sahashi K, Arahata K: DNA rearrangements in Japanese facioscapulohumeral muscular dystrophy patients: clinical correlations. Neuromusc Disord 1995, 5:201-208
-
(1995)
Neuromusc. Disord.
, vol.5
, pp. 201-208
-
-
Goto, K.1
Lee, J.H.2
Matsuda, C.3
Hirabayashi, K.4
Kojo, T.5
Nakamura, A.6
Mitsunaga, Y.7
Furukawa, T.8
Sahashi, K.9
Arahata, K.10
-
4
-
-
0029913030
-
Direct detection of 4q35 rearrangements implicated in facioscapulohumeral muscular dystrophy (FSHD)
-
Deidda G, Caccuri S, Piazzo N, Felicetti L: Direct detection of 4q35 rearrangements implicated in facioscapulohumeral muscular dystrophy (FSHD). J Med Genet 1996, 33:361-365
-
(1996)
J. Med. Genet.
, vol.33
, pp. 361-365
-
-
Deidda, G.1
Caccuri, S.2
Piazzo, N.3
Felicetti, L.4
-
5
-
-
0029827344
-
Evidence for subtelomeric exchange of 3.3 kb tandemly repeated units between chromosomes 4q35 and 10q26: Implications for genetic counseling and etiology of FSHD1
-
van Deutekom JCT, Bakker E, Lemmers RJLF, van der Wielen MJR, Bik E, Hofker MH, Padberg GW, Frants RR: Evidence for subtelomeric exchange of 3.3 kb tandemly repeated units between chromosomes 4q35 and 10q26: implications for genetic counseling and etiology of FSHD1. Hum Mol Genet 1996, 5:1997-2003
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 1997-2003
-
-
van Deutekom, J.C.T.1
Bakker, E.2
Lemmers, R.J.L.F.3
van der Wielen, M.J.R.4
Bik, E.5
Hofker, M.H.6
Padberg, G.W.7
Frants, R.R.8
-
6
-
-
7344231685
-
Inter- and intrachromosomal subtelomeric rearrangements on 4q35: Implications for facioscapulohumeral muscular dystrophy (FSHD) aetiology and diagnosis
-
Lemmers RJLF, van der Maarel SM, van Deutekom JCT, van der Wielen MJR, Deidda G, Dauwerse HG, Hewitt J, Hofker M, Bakker E, Padberg GW, Frants RR: Inter- and intrachromosomal subtelomeric rearrangements on 4q35: implications for facioscapulohumeral muscular dystrophy (FSHD) aetiology and diagnosis. Hum Mol Genet 1998, 7:1207-1214
-
(1998)
Hum. Mol. Genet.
, vol.7
, pp. 1207-1214
-
-
Lemmers, R.J.L.F.1
van der Maarel, S.M.2
van Deutekom, J.C.T.3
van der Wielen, M.J.R.4
Deidda, G.5
Dauwerse, H.G.6
Hewitt, J.7
Hofker, M.8
Bakker, E.9
Padberg, G.W.10
Frants, R.R.11
-
7
-
-
0034703873
-
Interchromosomal repeat array interactions between chromosomes 4 and 10: A model for subtelomeric plasticity
-
van Overveld PGM, Lemmers RJLF, Deidda G, Sandkuijl L, Padberg GW, Frants RR, van der Maarel SM: Interchromosomal repeat array interactions between chromosomes 4 and 10: a model for subtelomeric plasticity. Hum Mol Genet 2000, 9:2879-2884
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 2879-2884
-
-
van Overveld, P.G.M.1
Lemmers, R.J.L.F.2
Deidda, G.3
Sandkuijl, L.4
Padberg, G.W.5
Frants, R.R.6
van der Maarel, S.M.7
-
8
-
-
0033910121
-
De novo facioscapulohumeral muscular dystrophy: Frequent somatic mosaicism, sex-dependent phenotype, and the role of mitotic transchromosomal repeat interaction between chromosomes 4 and 10
-
van der Maarel SM, Deidda G, Lemmers RJLF, van Overveld PGM, van der Wielen M, Hewitt JE, Sandkuijl L, Bakker B, van Ommen GJB, Padberg GW, Frants RR: De novo facioscapulohumeral muscular dystrophy: frequent somatic mosaicism, sex-dependent phenotype, and the role of mitotic transchromosomal repeat interaction between chromosomes 4 and 10. Am J Hum Genet 2000, 66:26-35
-
(2000)
Am. J. Hum. Genet.
, vol.66
, pp. 26-35
-
-
van der Maarel, S.M.1
Deidda, G.2
Lemmers, R.J.L.F.3
van Overveld, P.G.M.4
van der Wielen, M.5
Hewitt, J.E.6
Sandkuijl, L.7
Bakker, B.8
van Ommen, G.J.B.9
Padberg, G.W.10
Frants, R.R.11
-
9
-
-
0032736540
-
A new dosage test for subtelomeric 4; 10 translocations improves conventional diagnosis of facioscapulohumeral muscular dystrophy (FSHD)
-
van der Maarel SM, Deidda G, Lemmers RJLF, Bakker E, van der Wielen MJR, Sandkuijl L, Hewitt JE, Padberg GW, Frants RR: A new dosage test for subtelomeric 4; 10 translocations improves conventional diagnosis of facioscapulohumeral muscular dystrophy (FSHD). J Med Genet 1999, 36:823-828
-
(1999)
J. Med. Genet.
, vol.36
, pp. 823-828
-
-
van der Maarel, S.M.1
Deidda, G.2
Lemmers, R.J.L.F.3
Bakker, E.4
van der Wielen, M.J.R.5
Sandkuijl, L.6
Hewitt, J.E.7
Padberg, G.W.8
Frants, R.R.9
-
10
-
-
0023632802
-
Molecular analysis of the Duchenne muscular dystrophy region using pulsed field electrophoresis
-
Kenwrick S, Patterson M, Speer A, Fischbeck K, Davies K: Molecular analysis of the Duchenne muscular dystrophy region using pulsed field electrophoresis. Cell 1987, 48:351-357
-
(1987)
Cell
, vol.48
, pp. 351-357
-
-
Kenwrick, S.1
Patterson, M.2
Speer, A.3
Fischbeck, K.4
Davies, K.5
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