-
1
-
-
0025028786
-
Beevor's sign and facioscapulohumeral dystrophy
-
Awerbuch GI, Nigro MA, Wishnow R. Beevor's sign and facioscapulohumeral dystrophy. Arch Neurol 1990;47: 1208-1209.
-
(1990)
Arch Neurol
, vol.47
, pp. 1208-1209
-
-
Awerbuch, G.I.1
Nigro, M.A.2
Wishnow, R.3
-
2
-
-
0028911841
-
The FSHD linked locus D4F104S1 (p13E-11) on 4q35 has a homologue on 10qter
-
Bakker E, Wijmenga C, Vossen RHAM, Padberg G, Hewitt J, van der Weilen M, Ramsussen K, Frants RR. The FSHD linked locus D4F104S1 (p13E-11) on 4q35 has a homologue on 10qter. Muscle Nerve 1995;18(suppl 2):S39-S44.
-
(1995)
Muscle Nerve
, vol.18
, Issue.SUPPL. 2
-
-
Bakker, E.1
Wijmenga, C.2
Vossen, R.H.A.M.3
Padberg, G.4
Hewitt, J.5
Van Der Weilen, M.6
Ramsussen, K.7
Frants, R.R.8
-
3
-
-
0029913030
-
Direct detection of 4q35 rearrangements implicated in facioscaupulohumeral muscular dystrophy (FSHD)
-
Deidda G, Cacurri S, Piazzo N , Felicetti L. Direct detection of 4q35 rearrangements implicated in facioscaupulohumeral muscular dystrophy (FSHD). J Med Genet 1996;33:361-365.
-
(1996)
J Med Genet
, vol.33
, pp. 361-365
-
-
Deidda, G.1
Cacurri, S.2
Piazzo, N.3
Felicetti, L.4
-
4
-
-
0031777331
-
Epilepsy and mental retardation in a subset of early onset 4q35-facioscapulohumeral muscular dystrophy
-
Funakoshi M, Goto K, Arahata K. Epilepsy and mental retardation in a subset of early onset 4q35-facioscapulohumeral muscular dystrophy. Neurology 1998;50:1791-1794.
-
(1998)
Neurology
, vol.50
, pp. 1791-1794
-
-
Funakoshi, M.1
Goto, K.2
Arahata, K.3
-
5
-
-
0027433246
-
Evidence for heterogeneity in facioscapulohumeral muscular dystrophy (FSHD)
-
Gilbert JR, Stajich JM, Wall S, Carter SC, Qiu H, Vance JM, Stewart CS, Speer MC, Pufky J, Yamaoka LH, Rozear M, Samson F, Fardeau M, Roses AD, Pericak-Vance MA. Evidence for heterogeneity in facioscapulohumeral muscular dystrophy (FSHD). Am J Hum Genet 1993;53:401-408.
-
(1993)
Am J Hum Genet
, vol.53
, pp. 401-408
-
-
Gilbert, J.R.1
Stajich, J.M.2
Wall, S.3
Carter, S.C.4
Qiu, H.5
Vance, J.M.6
Stewart, C.S.7
Speer, M.C.8
Pufky, J.9
Yamaoka, L.H.10
Rozear, M.11
Samson, F.12
Fardeau, M.13
Roses, A.D.14
Pericak-Vance, M.A.15
-
6
-
-
0027429123
-
Genetics of facioscapulohumeral muscular dystrophy: New mutations in sporadic cases
-
Griggs RC, Tawil R, Storvick MS, Mendell JR, Altherr MR. Genetics of facioscapulohumeral muscular dystrophy: new mutations in sporadic cases. Neurology 1993;43:2369-2372.
-
(1993)
Neurology
, vol.43
, pp. 2369-2372
-
-
Griggs, R.C.1
Tawil, R.2
Storvick, M.S.3
Mendell, J.R.4
Altherr, M.R.5
-
7
-
-
0025836092
-
Genetic counselling in facioscapulohumeral muscular dystrophy
-
Lunt PW, Harper PS. Genetic counselling in facioscapulohumeral muscular dystrophy. J Med Genet 1991;28:655-664.
-
(1991)
J Med Genet
, vol.28
, pp. 655-664
-
-
Lunt, P.W.1
Harper, P.S.2
-
8
-
-
0029038951
-
Correlation between fragment size at D4F104S1 and age at onset or at wheelchair use, with a possible generation effect, accounts for much phenotypic variation in 4q35-facioscapulohumeral muscular dystrophy (FSHD)
-
Lunt PW, Jardine PE, Koch MC, Maynard J, Osborn M, Williams M, Harper PS, Upadyaya M. Correlation between fragment size at D4F104S1 and age at onset or at wheelchair use, with a possible generation effect, accounts for much phenotypic variation in 4q35-facioscapulohumeral muscular dystrophy (FSHD). Hum Mol Genet 1995;4:951-958.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 951-958
-
-
Lunt, P.W.1
Jardine, P.E.2
Koch, M.C.3
Maynard, J.4
Osborn, M.5
Williams, M.6
Harper, P.S.7
Upadyaya, M.8
-
9
-
-
0029987148
-
Familial facioscapulohumeral muscular dystrophy: Phenotypic diversity and genetic abnormality
-
Nakagawa M, Higuchi I, Yoshidome H, Isashiki Y, Ohkubo R, Kaseda S, Iwaki H, Fukunaga H, Osame M. Familial facioscapulohumeral muscular dystrophy: phenotypic diversity and genetic abnormality. Acta Neurol Scand 1996;93: 189-192.
-
(1996)
Acta Neurol Scand
, vol.93
, pp. 189-192
-
-
Nakagawa, M.1
Higuchi, I.2
Yoshidome, H.3
Isashiki, Y.4
Ohkubo, R.5
Kaseda, S.6
Iwaki, H.7
Fukunaga, H.8
Osame, M.9
-
11
-
-
0026702158
-
Regional mapping of facioscapulohumeral muscular dystrophy gene on 4q35: Combined analysis of an international consortium
-
Sarfarazi M, Wijmenga C, Upadhyaya M, Weiffenbach B, Hyser C, Mathews K, Murray J, Gilbert J, Pericak-Vance M, Lunt P. Regional mapping of facioscapulohumeral muscular dystrophy gene on 4q35: combined analysis of an international consortium. Am J Hum Genet 1992;51:396-403.
-
(1992)
Am J Hum Genet
, vol.51
, pp. 396-403
-
-
Sarfarazi, M.1
Wijmenga, C.2
Upadhyaya, M.3
Weiffenbach, B.4
Hyser, C.5
Mathews, K.6
Murray, J.7
Gilbert, J.8
Pericak-Vance, M.9
Lunt, P.10
-
12
-
-
0029984970
-
Evidence for anticipation and association of deletion size with severity in facioscapulohumeral muscular dystrophy
-
the FSHD group
-
Tawil R, Forrester J, Griggs RC, Mendell J, Kissel J, McDermott M, King W, Weiffenbach B, Figlewicz D, and the FSHD group. Evidence for anticipation and association of deletion size with severity in facioscapulohumeral muscular dystrophy. Ann Neurol 1996;39:744-748.
-
(1996)
Ann Neurol
, vol.39
, pp. 744-748
-
-
Tawil, R.1
Forrester, J.2
Griggs, R.C.3
Mendell, J.4
Kissel, J.5
McDermott, M.6
King, W.7
Weiffenbach, B.8
Figlewicz, D.9
-
13
-
-
0031847822
-
Identical de novo mutation at the D4F104S1 locus in monozygotic male twins affected by facioscapulohumeral muscular dystrophy (FSHD) with different clinical expression
-
Tupler R, Barbierato L, Memmi M, Sewry CA, De Grandis D, Maruschio P, Tiepolo L, Ferlini A. Identical de novo mutation at the D4F104S1 locus in monozygotic male twins affected by facioscapulohumeral muscular dystrophy (FSHD) with different clinical expression. J Med Genet 1998;35:778-783.
-
(1998)
J Med Genet
, vol.35
, pp. 778-783
-
-
Tupler, R.1
Barbierato, L.2
Memmi, M.3
Sewry, C.A.4
De Grandis, D.5
Maruschio, P.6
Tiepolo, L.7
Ferlini, A.8
-
14
-
-
0030909143
-
Improved molecular diagnosis of facioscapulohumeral muscular dystrophy (FSHD): Validation of the differential double digestion for FSHD
-
Upadhyaya M, Maynard J, Rogers MT, Lunt PW, Jardine P, Ravine D, Harper PS. Improved molecular diagnosis of facioscapulohumeral muscular dystrophy (FSHD): validation of the differential double digestion for FSHD. J Med Genet 1997;34:476-479.
-
(1997)
J Med Genet
, vol.34
, pp. 476-479
-
-
Upadhyaya, M.1
Maynard, J.2
Rogers, M.T.3
Lunt, P.W.4
Jardine, P.5
Ravine, D.6
Harper, P.S.7
-
15
-
-
0029827344
-
Evidence for subtelomeric exchange of 3.3 kb tandemly repeated units between chromosomes 4q35 and 10q26: Implications for genetic counselling and etiology of FSHD1
-
van Deutekom JCT, Bakker E, Lemmers RJLF, van der Wielen MJR, Bik E, Hofker M, Padberg GW, Frants RR. Evidence for subtelomeric exchange of 3.3 kb tandemly repeated units between chromosomes 4q35 and 10q26: implications for genetic counselling and etiology of FSHD1. Hum Molec Genet 1996; 5:1997-2003.
-
(1996)
Hum Molec 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.6
Padberg, G.W.7
Frants, R.R.8
-
16
-
-
0027744223
-
FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit
-
van Deutekom JCTT, Wijmenga C, van Tienhoven EAE, Gruter AM, Frants RR, Hewitt JE, Padberg GW, van Ommen GJB, Hofker MH. FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit. Hum Molec Genet 1993;2:2037-2042.
-
(1993)
Hum Molec Genet
, vol.2
, pp. 2037-2042
-
-
Van Deutekom, J.C.T.T.1
Wijmenga, C.2
Van Tienhoven, E.A.E.3
Gruter, A.M.4
Frants, R.R.5
Hewitt, J.E.6
Padberg, G.W.7
Van Ommen, G.J.B.8
Hofker, M.H.9
-
17
-
-
0025160101
-
Location of facioscapulohumeral muscular dystrophy gene on chromosome 4
-
Wijmenga C, Frants RR, Brouwer OF, Moerer P, Weber JL, Padberg GW. Location of facioscapulohumeral muscular dystrophy gene on chromosome 4. Lancet 1990;336:651-653.
-
(1990)
Lancet
, vol.336
, pp. 651-653
-
-
Wijmenga, C.1
Frants, R.R.2
Brouwer, O.F.3
Moerer, P.4
Weber, J.L.5
Padberg, G.W.6
-
18
-
-
0026922062
-
Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy
-
Wijmenga C, Hewitt JE, Sandkuijl LA, Clark LN, Wright TJ, Dauwerse HG, Gruter A-M, Hofker M, Moerer P, Williamson R, van Ommen G-JB, Padberg GW, Frants RR. 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.8
Moerer, P.9
Williamson, R.10
Van Ommen, G.-J.11
Padberg, G.W.12
Frants, R.R.13
-
19
-
-
0026080958
-
Mapping of facioscapulohumeral muscular dystrophy gene to chromosome 4q35-qter by multipoint linkage analysis and in situ hybridization
-
Wijmenga C, Padberg GW, Moerer P, Wiegant J, Liem L, Brouwer OF, Milner EC:, Weber JL, van Ommen GB, Sandkuyl IA. Mapping of facioscapulohumeral muscular dystrophy gene to chromosome 4q35-qter by multipoint linkage analysis and in situ hybridization. Genomics 1991;9:570-575.
-
(1991)
Genomics
, vol.9
, pp. 570-575
-
-
Wijmenga, C.1
Padberg, G.W.2
Moerer, P.3
Wiegant, J.4
Liem, L.5
Brouwer, O.F.6
Milner, E.C.7
Weber, J.L.8
Van Ommen, G.B.9
Sandkuyl, I.A.10
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