-
1
-
-
0016173374
-
The manifesting carrier in Duchenne muscular dystrophy
-
Moser H, Emery AE. The manifesting carrier in Duchenne muscular dystrophy. Clin Genet 1974: 5: 271-284.
-
(1974)
Clin Genet
, vol.5
, pp. 271-284
-
-
Moser, H.1
Emery, A.E.2
-
2
-
-
0024334813
-
A survey of manifesting carriers of Duchenne and Becker muscular dystrophy in Wales
-
Norman A, Harper P. A survey of manifesting carriers of Duchenne and Becker muscular dystrophy in Wales. Clin Genet 1989: 36: 31-37.
-
(1989)
Clin Genet
, vol.36
, pp. 31-37
-
-
Norman, A.1
Harper, P.2
-
4
-
-
79951953733
-
Canadian Pediatric Neuromuscular Group. Symptomatic dystrophinopathies in female children
-
Seemann N, Selby K, McAdam L et al. Canadian Pediatric Neuromuscular Group. Symptomatic dystrophinopathies in female children. Neuromuscul Disord 2011: 21: 172-177.
-
(2011)
Neuromuscul Disord
, vol.21
, pp. 172-177
-
-
Seemann, N.1
Selby, K.2
McAdam, L.3
-
5
-
-
84861660093
-
Treatment of dystrophinopathic cardiomyopathy: review of the literature and personal results
-
Politano L, Nigro G. Treatment of dystrophinopathic cardiomyopathy: review of the literature and personal results. Acta Myol 2012: XXXI: 24-30.
-
(2012)
Acta Myol
, vol.31
, pp. 24-30
-
-
Politano, L.1
Nigro, G.2
-
6
-
-
0026510987
-
The cardiomyopathy of Duchenne/Becker consultands
-
Comi LI, Nigro G, Politano L, Petretta VR. The cardiomyopathy of Duchenne/Becker consultands. Int J Cardiol 1992: 34 (3): 297-305.
-
(1992)
Int J Cardiol
, vol.34
, Issue.3
, pp. 297-305
-
-
Comi, L.I.1
Nigro, G.2
Politano, L.3
Petretta, V.R.4
-
7
-
-
0029157717
-
Structural basis of cardiomyopathy in Duchenne/Becker carriers. Endomyocardial biopsy evaluation
-
Nigro G, Di Somma S, Comi LI et al. Structural basis of cardiomyopathy in Duchenne/Becker carriers. Endomyocardial biopsy evaluation. Ann N Y Acad Sci 1995: 752: 108-110.
-
(1995)
Ann N Y Acad Sci
, vol.752
, pp. 108-110
-
-
Nigro, G.1
Di Somma, S.2
Comi, L.I.3
-
8
-
-
0029971310
-
Development of cardiomyopathy in female carriers of Duchenne and Becker muscular dystrophies
-
Politano L, Nigro V, Nigro G et al. Development of cardiomyopathy in female carriers of Duchenne and Becker muscular dystrophies. JAMA 1996: 275: 1335-1338.
-
(1996)
JAMA
, vol.275
, pp. 1335-1338
-
-
Politano, L.1
Nigro, V.2
Nigro, G.3
-
9
-
-
0027374166
-
Cardiomyopathy may be the only clinical manifestation in female carriers of Duchenne muscular dystrophy
-
Mirabella M, Servidei S, Manfredi G et al. Cardiomyopathy may be the only clinical manifestation in female carriers of Duchenne muscular dystrophy. Neurology 1993: 43: 2342-2345.
-
(1993)
Neurology
, vol.43
, pp. 2342-2345
-
-
Mirabella, M.1
Servidei, S.2
Manfredi, G.3
-
10
-
-
9344257448
-
Cardiomyopathies associated with Muscular Dystrophies
-
Engel A, Franzini-Armstrong C, eds. New York, NY: Mac Graw-Hill
-
Nigro G, Comi LI, Politano L, Nigro G. Cardiomyopathies associated with Muscular Dystrophies. In: Engel A, Franzini-Armstrong C, eds. Myology. New York, NY: Mac Graw-Hill, 2004: 1239-1256.
-
(2004)
Myology
, pp. 1239-1256
-
-
Nigro, G.1
Comi, L.I.2
Politano, L.3
Nigro, G.4
-
11
-
-
0033583984
-
Signs and symptoms of Duchenne muscular dystrophy and Becker muscular dystrophy among carriers in The Netherlands: a cohort study
-
Hoogerwaard EM, Bakker E, Ippel PF et al. Signs and symptoms of Duchenne muscular dystrophy and Becker muscular dystrophy among carriers in The Netherlands: a cohort study. Lancet 1999: 353: 2116-2119.
-
(1999)
Lancet
, vol.353
, pp. 2116-2119
-
-
Hoogerwaard, E.M.1
Bakker, E.2
Ippel, P.F.3
-
12
-
-
0029051456
-
X-chromosome methylation in manifesting and healthy carriers of dystrophinopathies: concordance of activation ratios among first degree female relatives and skewed inactivation as cause of the affected phenotypes
-
Azofeifa J, Voit T, Hübner C et al. X-chromosome methylation in manifesting and healthy carriers of dystrophinopathies: concordance of activation ratios among first degree female relatives and skewed inactivation as cause of the affected phenotypes. Hum Genet 1995: 96: 167-176.
-
(1995)
Hum Genet
, vol.96
, pp. 167-176
-
-
Azofeifa, J.1
Voit, T.2
Hübner, C.3
-
13
-
-
0027238721
-
Variability in clinical, genetic and protein abnormalities in manifesting carriers of Duchenne and Becker muscular dystrophy
-
Bushby KM, Goodship JA, Nicholson LV et al. Variability in clinical, genetic and protein abnormalities in manifesting carriers of Duchenne and Becker muscular dystrophy. Neuromuscul Disord 1993: 3: 57-64.
-
(1993)
Neuromuscul Disord
, vol.3
, pp. 57-64
-
-
Bushby, K.M.1
Goodship, J.A.2
Nicholson, L.V.3
-
14
-
-
0028329777
-
Skewed inactivation of an X-chromosome deleted at the dystrophin gene in an asymptomatic mother and her affected daughter
-
Tihy F, Vogt N, Recan D et al. Skewed inactivation of an X-chromosome deleted at the dystrophin gene in an asymptomatic mother and her affected daughter. Hum Genet 1994: 93: 563-567.
-
(1994)
Hum Genet
, vol.93
, pp. 563-567
-
-
Tihy, F.1
Vogt, N.2
Recan, D.3
-
15
-
-
0031968341
-
Skewed X inactivation in manifesting carriers of Duchenne muscular dystrophy
-
Yoshioka M, Yorifuji T, Mituyoshi I. Skewed X inactivation in manifesting carriers of Duchenne muscular dystrophy. Clin Genet 1998: 53: 102-107.
-
(1998)
Clin Genet
, vol.53
, pp. 102-107
-
-
Yoshioka, M.1
Yorifuji, T.2
Mituyoshi, I.3
-
16
-
-
0025329757
-
Skewed X inactivation in a female MZ twin results in Duchenne muscular dystrophy
-
Richards CS, Watkins SC, Hoffman EP et al. Skewed X inactivation in a female MZ twin results in Duchenne muscular dystrophy. Am J Hum Genet 1990: 46: 672-681.
-
(1990)
Am J Hum Genet
, vol.46
, pp. 672-681
-
-
Richards, C.S.1
Watkins, S.C.2
Hoffman, E.P.3
-
17
-
-
0025733349
-
Discordance of muscular dystrophy in monozygotic female twins: evidence supporting asymmetric splitting of the inner cell mass in a manifesting carrier of Duchenne dystrophy
-
Lupski JR, Garcia CA, Zoghbi HY et al. Discordance of muscular dystrophy in monozygotic female twins: evidence supporting asymmetric splitting of the inner cell mass in a manifesting carrier of Duchenne dystrophy. Am J Med Genet 1991: 40: 354-364.
-
(1991)
Am J Med Genet
, vol.40
, pp. 354-364
-
-
Lupski, J.R.1
Garcia, C.A.2
Zoghbi, H.Y.3
-
18
-
-
77955268106
-
Clinical and genetic characterization of manifesting carriers of DMD mutations
-
Soltanzadeh P, Friez MJ, Dunn D et al. Clinical and genetic characterization of manifesting carriers of DMD mutations. Neuromuscul Disord 2010: 20: 499-504.
-
(2010)
Neuromuscul Disord
, vol.20
, pp. 499-504
-
-
Soltanzadeh, P.1
Friez, M.J.2
Dunn, D.3
-
19
-
-
0029060891
-
Muscle X-inactivation patterns and dystrophin expression in Duchenne muscular dystrophy carriers
-
Matthews PM, Benjamin D, Van Bakel I et al. Muscle X-inactivation patterns and dystrophin expression in Duchenne muscular dystrophy carriers. Neuromuscul Disord 1995: 5: 209-220.
-
(1995)
Neuromuscul Disord
, vol.5
, pp. 209-220
-
-
Matthews, P.M.1
Benjamin, D.2
Van Bakel, I.3
-
20
-
-
77954528283
-
A 15-year molecular analysis of DMD/BMD: genetic features in a large cohort
-
Carsana A, Frisso G, Intrieri M et al. A 15-year molecular analysis of DMD/BMD: genetic features in a large cohort. Front Biosci (Elite Ed) 2010: 2: 547-558.
-
(2010)
Front Biosci (Elite Ed)
, vol.2
, pp. 547-558
-
-
Carsana, A.1
Frisso, G.2
Intrieri, M.3
-
21
-
-
79953762347
-
Carrier woman of Duchenne muscular dystrophy mimicking inflammatory myositis
-
Yoon J, Kim SH, Ki CS et al. Carrier woman of Duchenne muscular dystrophy mimicking inflammatory myositis. J Korean Med Sci 2011: 26: 587-591.
-
(2011)
J Korean Med Sci
, vol.26
, pp. 587-591
-
-
Yoon, J.1
Kim, S.H.2
Ki, C.S.3
-
22
-
-
0031740808
-
Absence of correlation between skewed X inactivation in blood and serum creatine-kinase levels in Duchenne/Becker female carriers
-
Sumita DR, Vainzof M, Campiotto S et al. Absence of correlation between skewed X inactivation in blood and serum creatine-kinase levels in Duchenne/Becker female carriers. Am J Med Genet 1998: 80: 356-361.
-
(1998)
Am J Med Genet
, vol.80
, pp. 356-361
-
-
Sumita, D.R.1
Vainzof, M.2
Campiotto, S.3
-
23
-
-
84864959089
-
Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype
-
Brioschi S, Gualandi F, Scotton C et al. Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype. BMC Med Genet 2012: 13: 73.
-
(2012)
BMC Med Genet
, vol.13
, pp. 73
-
-
Brioschi, S.1
Gualandi, F.2
Scotton, C.3
-
24
-
-
0026678490
-
Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X-chromosome inactivation
-
Allen RC, Zoghbi HY, Moseley AB et al. Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X-chromosome inactivation. Am J Hum Genet 1992: 51: 1229-1239.
-
(1992)
Am J Hum Genet
, vol.51
, pp. 1229-1239
-
-
Allen, R.C.1
Zoghbi, H.Y.2
Moseley, A.B.3
-
25
-
-
82955175544
-
SPP1 genotype is a determinant of disease severity in Duchenne muscular dystrophy: predicting the severity of Duchenne muscular dystrophy: implications for treatment
-
Kyriakides T, Pegoraro E, Hoffman EP et al. SPP1 genotype is a determinant of disease severity in Duchenne muscular dystrophy: predicting the severity of Duchenne muscular dystrophy: implications for treatment. Neurology 2011: 77: 1858-1859.
-
(2011)
Neurology
, vol.77
, pp. 1858-1859
-
-
Kyriakides, T.1
Pegoraro, E.2
Hoffman, E.P.3
-
26
-
-
0028904169
-
Genetic and biochemical normalization in female carriers of Duchenne muscular dystrophy: evidence for failure of dystrophin production in dystrophin-competent myonuclei
-
Pegoraro E, Schimke RN, Garcia C et al. Genetic and biochemical normalization in female carriers of Duchenne muscular dystrophy: evidence for failure of dystrophin production in dystrophin-competent myonuclei. Neurology 1995: 45 (4): 677-690.
-
(1995)
Neurology
, vol.45
, Issue.4
, pp. 677-690
-
-
Pegoraro, E.1
Schimke, R.N.2
Garcia, C.3
-
27
-
-
0030062816
-
X-chromosome methylation ratios as indicators of chromosomal activity: evidence of intraindividual divergencies among tissues of different embryonal origin
-
Azofeifa J, Waldherr R, Cremer M. X-chromosome methylation ratios as indicators of chromosomal activity: evidence of intraindividual divergencies among tissues of different embryonal origin. Hum Genet 1996: 97 (3): 330-333.
-
(1996)
Hum Genet
, vol.97
, Issue.3
, pp. 330-333
-
-
Azofeifa, J.1
Waldherr, R.2
Cremer, M.3
-
28
-
-
0033762221
-
Age- and tissue-specific variation of X-chromosome inactivation ratios in normal women
-
Sharp A, Robinson D, Jacobs P. Age- and tissue-specific variation of X-chromosome inactivation ratios in normal women. Hum Genet 2000: 107: 343-349.
-
(2000)
Hum Genet
, vol.107
, pp. 343-349
-
-
Sharp, A.1
Robinson, D.2
Jacobs, P.3
|