-
1
-
-
0028177342
-
CCG repeat polymorphism adjacent to the CAG repeat in the Huntington disease gene: Implications for diagnostic accuracy and predictive testing
-
ANDREW, S.E., GOLDBERG, Y.P., THEILMANN, J., et al. (1994). CCG repeat polymorphism adjacent to the CAG repeat in the Huntington disease gene: implications for diagnostic accuracy and predictive testing. Hum. Mol. Genet. 3, 65-67.
-
(1994)
Hum. Mol. Genet.
, vol.3
, pp. 65-67
-
-
Andrew, S.E.1
Goldberg, Y.P.2
Theilmann, J.3
-
2
-
-
0029020722
-
Early diagnosis of Duchenne muscular dystrophy
-
APPLETON, R.E., and NICOLAIDES, P. (1995). Early diagnosis of Duchenne muscular dystrophy. Lancet 345, 1243-1244.
-
(1995)
Lancet
, vol.345
, pp. 1243-1244
-
-
Appleton, R.E.1
Nicolaides, P.2
-
3
-
-
0041379846
-
Facioscapulohumeral muscular dystrophy. Phenotype-genotype correlation in patients with borderline D4Z4 repeat numbers
-
BUTZ, M., KOCH, M.C., MULLER-FELBER, W., et al. (2003). Facioscapulohumeral muscular dystrophy. Phenotype-genotype correlation in patients with borderline D4Z4 repeat numbers. J. Neurol. 8, 932-937.
-
(2003)
J. Neurol.
, vol.8
, pp. 932-937
-
-
Butz, M.1
Koch, M.C.2
Muller-Felber, W.3
-
4
-
-
0027933030
-
Chromosome 4q35 haplotype and DNA rearrangement segregating in affected subjects of 19 Italian families with facioscapulohumeral muscular dystrophy (FSHD)
-
CACURRI, S., DEIDDA, G., PIAZZO, N., et al. (1994). Chromosome 4q35 haplotype and DNA rearrangement segregating in affected subjects of 19 Italian families with facioscapulohumeral muscular dystrophy (FSHD). Hum. Genet. 94, 367-374.
-
(1994)
Hum. Genet.
, vol.94
, pp. 367-374
-
-
Cacurri, S.1
Deidda, G.2
Piazzo, N.3
-
5
-
-
0032231371
-
Sequence homology between 4qter and 10qter loci facilitates the instability of subtelomeric KpnI repeat units implicated in facioscapulohumeral muscular dystrophy
-
CACURRI, S., PIAZZO, N., DEIDDA, G., et al. (1998). Sequence homology between 4qter and 10qter loci facilitates the instability of subtelomeric KpnI repeat units implicated in facioscapulohumeral muscular dystrophy. Am. J. Hum. Genet. 63, 181-190.
-
(1998)
Am. J. Hum. Genet.
, vol.63
, pp. 181-190
-
-
Cacurri, S.1
Piazzo, N.2
Deidda, G.3
-
7
-
-
0032055028
-
Facioscapulohumeral muscular dystrophy: Molecular studies, 19-21 July 1996, Naarden, the Netherlands
-
4th ENMC International Workshop
-
4th ENMC International Workshop. (1998). Facioscapulohumeral muscular dystrophy: molecular studies, 19-21 July 1996, Naarden, The Netherlands. Neuromusc. Disord. 8, 126-130.
-
(1998)
Neuromusc. Disord.
, vol.8
, pp. 126-130
-
-
-
8
-
-
0028040601
-
Analysis of the tandem repeat locus D4Z4associated with facioscapulohumeral muscular dystrophy
-
HEWITT, J.E., LYLE, R., CLARK, L.N., et al. (1994). Analysis of the tandem repeat locus D4Z4associated with facioscapulohumeral muscular dystrophy. Hum. Mol. Genet. 3, 1287-1295.
-
(1994)
Hum. Mol. Genet.
, vol.3
, pp. 1287-1295
-
-
Hewitt, J.E.1
Lyle, R.2
Clark, L.N.3
-
9
-
-
0024308793
-
Estimation of age dependent penetrance in facioscapulohumeral muscular dustrophy by minimum accertainment bias
-
LUNT, P.W., COMPSTON, D.A., and HARPER, P.S. (1989). Estimation of age dependent penetrance in facioscapulohumeral muscular dustrophy by minimum accertainment bias. J. Med. Genet. 26, 755-760.
-
(1989)
J. Med. Genet.
, vol.26
, pp. 755-760
-
-
Lunt, P.W.1
Compston, D.A.2
Harper, P.S.3
-
10
-
-
0025836092
-
Genetic counselling in facioscapulohumeral muscular dystrophy
-
LUNT, P.W., and HARPER, P.S. (1991). Genetic counselling in facioscapulohumeral muscular dystrophy. J. Med. Genet. 28, 655-664.
-
(1991)
J. Med. Genet.
, vol.28
, pp. 655-664
-
-
Lunt, P.W.1
Harper, P.S.2
-
11
-
-
0032055028
-
44th ENMC International Workshop: Facioscapulohumeral Muscular Dystrophy: Molecular Studies 19-21 July 1996, Naarden, the Netherlands
-
LUNT, P.W. (1998). 44th ENMC International Workshop: Facioscapulohumeral Muscular Dystrophy: Molecular Studies 19-21 July 1996, Naarden, The Netherlands. Neuromusc. Disord. 8, 126-130.
-
(1998)
Neuromusc. Disord.
, vol.8
, pp. 126-130
-
-
Lunt, P.W.1
-
12
-
-
0029160144
-
Dystrophin characterization in BMD patients: Correlation of abnormal protein with clinical phenotype
-
MORANDI, L., MORA, M., CONFALONIERI, V., et al. (1995). Dystrophin characterization in BMD patients: correlation of abnormal protein with clinical phenotype. J. Neurol. Sci. 132, 146-155.
-
(1995)
J. Neurol. Sci.
, vol.132
, pp. 146-155
-
-
Morandi, L.1
Mora, M.2
Confalonieri, V.3
-
13
-
-
0032976224
-
Definitive molecular diagnosis of facioscapulohumeral dystrophy
-
ORRELL, R.W., TAWIL, R., FORRESTER, J., et al. (1999). Definitive molecular diagnosis of facioscapulohumeral dystrophy. Neurology 52, 1822-1826.
-
(1999)
Neurology
, vol.52
, pp. 1822-1826
-
-
Orrell, R.W.1
Tawil, R.2
Forrester, J.3
-
14
-
-
0004164234
-
-
Thesis. (Leiden University, Leiden, The Netherlands)
-
PADBERG, G.W. (1982). "Facioscapulohumeral disease." Thesis. (Leiden University, Leiden, The Netherlands).
-
(1982)
Facioscapulohumeral Disease
-
-
Padberg, G.W.1
-
15
-
-
0028918407
-
Facioscapulohumeral muscular dystrophy in the Dutch population
-
PADBERG, G.W., FRANTS, R.R., BROUWER, O.F., et al. (1995). Facioscapulohumeral muscular dystrophy in the Dutch population. Muscle Nerve 2, S81-S84.
-
(1995)
Muscle Nerve
, vol.2
-
-
Padberg, G.W.1
Frants, R.R.2
Brouwer, O.F.3
-
16
-
-
0027159740
-
No evidence of genetic heterogeneity in Brazilian facioscapulohumeral muscular dystrophy (FSHD) with 4q markers
-
PASSOS-BUENO, M.R., WIJMENGA, C., TAKATA, R.E., et al. (1993). No evidence of genetic heterogeneity in Brazilian facioscapulohumeral muscular dystrophy (FSHD) with 4q markers. Hum. Mol. Genet. 2, 557-562.
-
(1993)
Hum. Mol. Genet.
, vol.2
, pp. 557-562
-
-
Passos-Bueno, M.R.1
Wijmenga, C.2
Takata, R.E.3
-
17
-
-
0032978703
-
Progress in the molecular diagnosis of facioscapulohumeral muscular dystrophy and correlation between the number of KpnI repeats at the 4q35 locus and clinical phenotype
-
RICCI, E., GALLUZZI, G., DEIDDA, G., et al. (1999). Progress in the molecular diagnosis of facioscapulohumeral muscular dystrophy and correlation between the number of KpnI repeats at the 4q35 locus and clinical phenotype. Ann. Neurol. 45, 751-757.
-
(1999)
Ann. Neurol.
, vol.45
, pp. 751-757
-
-
Ricci, E.1
Galluzzi, G.2
Deidda, G.3
-
18
-
-
0021419378
-
Epidemiology of progressive muscular dystrophy in northwestern Tuscany
-
ROSSI, B., SICILIANO, G., SARTUCCI, F., et al. (1984). Epidemiology of progressive muscular dystrophy in northwestern Tuscany. Acta Neurolog. 39, 125-133.
-
(1984)
Acta Neurolog.
, vol.39
, pp. 125-133
-
-
Rossi, B.1
Siciliano, G.2
Sartucci, F.3
-
19
-
-
0027936725
-
Study of the Huntington's disease (HD) gene CAG repeats in schizophrenic patients shows overlap of the normal and HD affected ranges but absence of correlation with schizophrenia
-
RUBINSZTEIN, D.C., LEGGO, J., GOODBURN, S., et al. (1994). Study of the Huntington's disease (HD) gene CAG repeats in schizophrenic patients shows overlap of the normal and HD affected ranges but absence of correlation with schizophrenia. J. Med. Genet. 31, 690-693.
-
(1994)
J. Med. Genet.
, vol.31
, pp. 690-693
-
-
Rubinsztein, D.C.1
Leggo, J.2
Goodburn, S.3
-
20
-
-
0029997090
-
Phenotypic characterization of individuals with 30-40 CAG repeats in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36-39 repeats
-
RUBINSZTEIN, D.C., LEGGO, J., COLES, R., et al. (1996). Phenotypic characterization of individuals with 30-40 CAG repeats in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36-39 repeats. Am. J. Hum. Genet. 59, 16-22.
-
(1996)
Am. J. Hum. Genet.
, vol.59
, pp. 16-22
-
-
Rubinsztein, D.C.1
Leggo, J.2
Coles, R.3
-
21
-
-
0026702158
-
Regional mapping of facioscapulohumeral muscular dystrophy gene on 4q35: Combined analysis of an international consortium
-
SARFARAZI, M., WIJMENGA, C., UPADHYAYA, M., et al. (1992). Regional mapping of facioscapulohumeral muscular dystrophy gene on 4q35: combined analysis of an international consortium. Am. J. Hum. Genet. 51, 396-403.
-
(1992)
Am. J. Hum. Genet.
, vol.51
, pp. 396-403
-
-
Sarfarazi, M.1
Wijmenga, C.2
Upadhyaya, M.3
-
22
-
-
0032865972
-
Epidemiology of dystrophynopaties in northwestern Tuscany: A molecular genetics-based revisitation
-
SICILIANO, G., TESSA, A., RENNA, M., et al. (1999). Epidemiology of dystrophynopaties in northwestern Tuscany: a molecular genetics-based revisitation. Clin. Genet. 56, 51-58.
-
(1999)
Clin. Genet.
, vol.56
, pp. 51-58
-
-
Siciliano, G.1
Tessa, A.2
Renna, M.3
-
23
-
-
0031915927
-
Facioscapulohumeral dystrophy: A distinct regional myopathy with a novel molecular pathogenesis
-
TAWIL, R., FIGLEWICZ, D.A., GRIGGS, R.C., et al. and the FSH Consortium. (1998). Facioscapulohumeral dystrophy: a distinct regional myopathy with a novel molecular pathogenesis. Ann. Neurol. 43, 279-282.
-
(1998)
Ann. Neurol.
, vol.43
, pp. 279-282
-
-
Tawil, R.1
Figlewicz, D.A.2
Griggs, R.C.3
-
24
-
-
0028280848
-
Facioscapulohumeral muscular dystrophy: Design of natural history study and results of baseline testing
-
TAWIL, R., McDERMOTT, J.P., MENDELL, J.R., et al. (1994). Facioscapulohumeral muscular dystrophy: design of natural history study and results of baseline testing. Neurology 44, 442-446.
-
(1994)
Neurology
, vol.44
, pp. 442-446
-
-
Tawil, R.1
McDermott, J.P.2
Mendell, J.R.3
-
25
-
-
0028887103
-
Scapuloperoneal syndromes: Absence of linkage to 4q35 FSHD locus
-
TAWIL, R., MYERS, G.J., WEIFFENBACH, B., et al. (1995). Scapuloperoneal syndromes: absence of linkage to 4q35 FSHD locus. Arch. Neurol. 52, 1069-1072.
-
(1995)
Arch. Neurol.
, vol.52
, pp. 1069-1072
-
-
Tawil, R.1
Myers, G.J.2
Weiffenbach, B.3
-
26
-
-
1642377315
-
Molecular basis of facioscapulohumeral muscular dystrophy
-
TUPLER, R., and GABELLINI, D. (2004). Molecular basis of facioscapulohumeral muscular dystrophy. Cell Mol. Life Sci. 61, 557-566.
-
(2004)
Cell Mol. Life Sci.
, vol.61
, pp. 557-566
-
-
Tupler, R.1
Gabellini, D.2
-
27
-
-
0026693595
-
The mapping of chromosome 4q markers in relation to facioscapulohumeral muscular dystrophy (FSHD)
-
UPADHYAYA, M., LUNT, P., SARFARAZI, M., et al. (1992). The mapping of chromosome 4q markers in relation to facioscapulohumeral muscular dystrophy (FSHD). Am. J. Hum. Genet. 51, 404-410.
-
(1992)
Am. J. Hum. Genet.
, vol.51
, pp. 404-410
-
-
Upadhyaya, M.1
Lunt, P.2
Sarfarazi, M.3
-
28
-
-
0027236404
-
Molecular analysis of British facioscapulohumeral muscular dystrophy families for 4q DNA rearrangements
-
UPADHYAYA, M., JARDINE, P., MAYNARD, J., et al. (1993). Molecular analysis of British facioscapulohumeral muscular dystrophy families for 4q DNA rearrangements. Hum. Mol. Genet. 2, 981-987.
-
(1993)
Hum. Mol. Genet.
, vol.2
, pp. 981-987
-
-
Upadhyaya, M.1
Jardine, P.2
Maynard, J.3
-
29
-
-
0030909143
-
Improved molecular diagnosis of facioscapulohumeral muscular dystrophy (FSHD): Validation of the differential double digestion for FSHD
-
UPADHYAYA, M., MAYNARD, J., ROGERS, M.T., et al. (1999). Improved molecular diagnosis of facioscapulohumeral muscular dystrophy (FSHD): validation of the differential double digestion for FSHD. J. Med. Genet. 34, 476-479.
-
(1999)
J. Med. Genet.
, vol.34
, pp. 476-479
-
-
Upadhyaya, M.1
Maynard, J.2
Rogers, M.T.3
-
30
-
-
0029827344
-
Evidence for subtelomeric exchange of 3.3 kb tandemly repeated units between chromosome 4q35 and 10q26: Implications for genetic counselling and aetiology of FSHD
-
VAN DEUTEKOM, J.C., BAKKER, E., LEMMERS, R.J., et al. (1997). Evidence for subtelomeric exchange of 3.3 kb tandemly repeated units between chromosome 4q35 and 10q26: implications for genetic counselling and aetiology of FSHD. Hum. Mol. Genet. 5, 1997-2003.
-
(1997)
Hum. Mol. Genet.
, vol.5
, pp. 1997-2003
-
-
Van Deutekom, J.C.1
Bakker, E.2
Lemmers, R.J.3
-
31
-
-
0345257778
-
Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy
-
VAN OVERVELD, P.G.M., LEMMERS, R., SANDKUIJL, L.A., et al. (2003). Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy. Nature Genet. 4, 315-317.
-
(2003)
Nature Genet.
, vol.4
, pp. 315-317
-
-
Van Overveld, P.G.M.1
Lemmers, R.2
Sandkuijl, L.A.3
-
32
-
-
0036220748
-
Facioscapulohumeral muscular dystrophy with Eco RI/BlnI fragment size of more than 32 kb
-
VIELHABER, S., JAKUBICZKA, S., SCHRODER, J.M., et al. (2002). Facioscapulohumeral muscular dystrophy with Eco RI/BlnI fragment size of more than 32 kb. Muscle Nerve 25, 540-548.
-
(2002)
Muscle Nerve
, vol.25
, pp. 540-548
-
-
Vielhaber, S.1
Jakubiczka, S.2
Schroder, J.M.3
-
33
-
-
0032835742
-
Inheritance of a 38 kb fragment in apparently sporadic facioscapulohumeral muscular dystrophy
-
VITELLI, F., VILLANOVA, M., MALANDRINI, A., et al. (1999). Inheritance of a 38 kb fragment in apparently sporadic facioscapulohumeral muscular dystrophy. Muscle Nerve 22, 1437-1441.
-
(1999)
Muscle Nerve
, vol.22
, pp. 1437-1441
-
-
Vitelli, F.1
Villanova, M.2
Malandrini, A.3
-
34
-
-
0031747231
-
Genetic polymorphisms adjacent to the CAG repeat influence clinical features at onset in Huntington's disease
-
VUILLAUME, I., VERMERSCH, P., DESTEE, A., et al. (1998). Genetic polymorphisms adjacent to the CAG repeat influence clinical features at onset in Huntington's disease. J. Neurol. Neurosurg. Psychiatry 64, 758-762.
-
(1998)
J. Neurol. Neurosurg. Psychiatry
, vol.64
, pp. 758-762
-
-
Vuillaume, I.1
Vermersch, P.2
Destee, A.3
-
35
-
-
0011869153
-
Progressive muscular dystrophy and myotonic disorders
-
J.N. Walton (ed.). Churchill-Livingstone, Edinburgh, London
-
WALTON, J.N., and GARDNER-MEDWIN, D. (1974). Progressive muscular dystrophy and myotonic disorders. In: J.N. Walton (ed.). (Churchill-Livingstone, Edinburgh, London: Disorders of voluntary muscle.
-
(1974)
Disorders of Voluntary Muscle
-
-
Walton, J.N.1
Gardner-Medwin, D.2
-
36
-
-
0026922062
-
Chromosome 4q DNA rearrangement associated with facioscapulohumeral muscular dystrophy
-
WIJMENGA, C., HEWITT, J.E., SANDKUIJL, L.A., et al. (1992a.) Chromosome 4q DNA rearrangement associated with facioscapulohumeral muscular dystrophy. Nature Genet. 2, 26-30.
-
(1992)
Nature Genet.
, vol.2
, pp. 26-30
-
-
Wijmenga, C.1
Hewitt, J.E.2
Sandkuijl, L.A.3
-
37
-
-
0026781017
-
Genetic linkage map of facioscapulohumeral muscular dystrophy and five polymorphic loci on chromosome 4q35-ter
-
WIJMENGA, C., SANDKUIJL, L.A., MOERER, P., et al. (1992b). Genetic linkage map of facioscapulohumeral muscular dystrophy and five polymorphic loci on chromosome 4q35-ter. Am. J. Hum. Genet. 51, 411-415.
-
(1992)
Am. J. Hum. Genet.
, vol.51
, pp. 411-415
-
-
Wijmenga, C.1
Sandkuijl, L.A.2
Moerer, P.3
-
38
-
-
1642487857
-
FSHD-like patients without 4q35 deletion
-
YAMANAKA, G., GOTO, K., ISHIHARA, T., et al. (2004). FSHD-like patients without 4q35 deletion. J. Neurol. Sci. 219, 89-93.
-
(2004)
J. Neurol. Sci.
, vol.219
, pp. 89-93
-
-
Yamanaka, G.1
Goto, K.2
Ishihara, T.3
-
39
-
-
0028833769
-
High proportion of new mutation and possible anticipation in Brazilian facioscapulohumeral muscular dystrophy families
-
ZATZ, M., MARIE, S.K., PASSOS-BUENO, M.R., et al. (1995). High proportion of new mutation and possible anticipation in Brazilian facioscapulohumeral muscular dystrophy families. Am. J. Hum. Genet. 56, 99-105.
-
(1995)
Am. J. Hum. Genet.
, vol.56
, pp. 99-105
-
-
Zatz, M.1
Marie, S.K.2
Passos-Bueno, M.R.3
|