-
1
-
-
0141740723
-
The muscular dystrophies
-
Edited by CR Scriver, AL Beaudet, WS Sly, D Valle. New York, McGraw Hill
-
Worton RG, Molnar MJ, Brais B, Karpati G: The muscular dystrophies. The Metabolic and Molecular Bases of Inherited Disease. Edited by CR Scriver, AL Beaudet, WS Sly, D Valle. New York, McGraw Hill, 2001, pp 5493-5523
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 5493-5523
-
-
Worton, R.G.1
Molnar, M.J.2
Brais, B.3
Karpati, G.4
-
2
-
-
0030016279
-
Accurate diagnosis of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis
-
Yau SC, Bobrow M, Mathew CG, Abbs SJ: Accurate diagnosis of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis. J Med Genet 1996, 33:550-558
-
(1996)
J Med Genet
, vol.33
, pp. 550-558
-
-
Yau, S.C.1
Bobrow, M.2
Mathew, C.G.3
Abbs, S.J.4
-
3
-
-
18444368121
-
Comprehensive detection of genomic duplications and deletions in the DMD gene, by use of multiplex amplifiable probe hybridization
-
White S, Kalf M, Liu Q, Villerius M, Engelsma D, Kriek M, Vollebregt E, Bakker B, van Ommen GJ, Breuning MH, den Dunnen JT: Comprehensive detection of genomic duplications and deletions in the DMD gene, by use of multiplex amplifiable probe hybridization. Am J Hum Genet 2002, 71:365-374
-
(2002)
Am J Hum Genet
, vol.71
, pp. 365-374
-
-
White, S.1
Kalf, M.2
Liu, Q.3
Villerius, M.4
Engelsma, D.5
Kriek, M.6
Vollebregt, E.7
Bakker, B.8
van Ommen, G.J.9
Breuning, M.H.10
den Dunnen, J.T.11
-
4
-
-
1842815918
-
Rapid identification of female carriers of DMD/BMD by quantitative real-time PCR
-
Joncourt F, Neuhaus B, Jostarndt-Foegen K, Kleinle S, Steiner B, Gallati S: Rapid identification of female carriers of DMD/BMD by quantitative real-time PCR. Hum Mutat 2004, 23:385-391
-
(2004)
Hum Mutat
, vol.23
, pp. 385-391
-
-
Joncourt, F.1
Neuhaus, B.2
Jostarndt-Foegen, K.3
Kleinle, S.4
Steiner, B.5
Gallati, S.6
-
5
-
-
3242812887
-
Direct detection of exon deletions/duplications in female carriers of and male patients with Duchenne/Becker muscular dystrophy
-
Frisso G, Carsana A, Tinto N, Calcagno G, Salvatore F, Sacchetti L: Direct detection of exon deletions/duplications in female carriers of and male patients with Duchenne/Becker muscular dystrophy. Clin Chem 2004, 50:1435-1438
-
(2004)
Clin Chem
, vol.50
, pp. 1435-1438
-
-
Frisso, G.1
Carsana, A.2
Tinto, N.3
Calcagno, G.4
Salvatore, F.5
Sacchetti, L.6
-
6
-
-
0037384644
-
Rapid direct sequence analysis of the dystrophin gene
-
Flanigan KM, von Niederhausern A, Dunn DM, Alder J, Mendell JR, Weiss RB: Rapid direct sequence analysis of the dystrophin gene. Am J Hum Genet 2003, 72:931-939
-
(2003)
Am J Hum Genet
, vol.72
, pp. 931-939
-
-
Flanigan, K.M.1
von Niederhausern, A.2
Dunn, D.M.3
Alder, J.4
Mendell, J.R.5
Weiss, R.B.6
-
7
-
-
20144389134
-
Improved molecular diagnosis of dystrophinopathies in an unselected clinical cohort
-
Dent KM, Dunn DM, von Niederhausern C, Aoyagi AT, Kerr L, Bromberg MB, Hart KJ, Tuohy T, White S, den Dunnen JT, Weiss RB, Flanigan KM: Improved molecular diagnosis of dystrophinopathies in an unselected clinical cohort. Am J Hum Genet 2005, 134A:295-298
-
(2005)
Am J Hum Genet
, vol.134 A
, pp. 295-298
-
-
Dent, K.M.1
Dunn, D.M.2
von Niederhausern, C.3
Aoyagi, A.T.4
Kerr, L.5
Bromberg, M.B.6
Hart, K.J.7
Tuohy, T.8
White, S.9
den Dunnen, J.T.10
Weiss, R.B.11
Flanigan, K.M.12
-
8
-
-
0025943652
-
Carrier detection and prenatal diagnosis in Duchenne and Becker muscular dystrophy families, using dinucleotide repeat polymorphisms
-
Clemens PR, Fenwick RG, Chamberlain JS, Gibbs RA, de Andrade M, Chakraborty R, Caskey CT: Carrier detection and prenatal diagnosis in Duchenne and Becker muscular dystrophy families, using dinucleotide repeat polymorphisms. Am J Hum Genet 1991, 49:951-960
-
(1991)
Am J Hum Genet
, vol.49
, pp. 951-960
-
-
Clemens, P.R.1
Fenwick, R.G.2
Chamberlain, J.S.3
Gibbs, R.A.4
de Andrade, M.5
Chakraborty, R.6
Caskey, C.T.7
-
9
-
-
0025968910
-
Rapid detection of CA polymorphisms in cloned DNA: Application to the 5′ region of the dystrophin gene
-
Feener CA, Boyce FM, Kunkel LM: Rapid detection of CA polymorphisms in cloned DNA: application to the 5′ region of the dystrophin gene. Am J Hum Genet 1991, 48:621-627
-
(1991)
Am J Hum Genet
, vol.48
, pp. 621-627
-
-
Feener, C.A.1
Boyce, F.M.2
Kunkel, L.M.3
-
10
-
-
0030701551
-
Prenatal diagnosis of Duchenne muscular dystrophy in the Japanese population by fluorescent CA repeat polymorphism analysis
-
Shiroshita Y, Katayama S: Prenatal diagnosis of Duchenne muscular dystrophy in the Japanese population by fluorescent CA repeat polymorphism analysis. J Obstet Gynaecol Res 1997, 23:453-461
-
(1997)
J Obstet Gynaecol Res
, vol.23
, pp. 453-461
-
-
Shiroshita, Y.1
Katayama, S.2
-
11
-
-
27744475988
-
The role of polymorphic short tandem (CA)(n) repeat loci segregation analysis in the detection of Duchenne muscular dystrophy carriers and prenatal diagnosis
-
Ferreiro V, Giliberto F, Francipane L, Szijan I: The role of polymorphic short tandem (CA)(n) repeat loci segregation analysis in the detection of Duchenne muscular dystrophy carriers and prenatal diagnosis. Mol Diagn 2005, 9:67-80
-
(2005)
Mol Diagn
, vol.9
, pp. 67-80
-
-
Ferreiro, V.1
Giliberto, F.2
Francipane, L.3
Szijan, I.4
-
12
-
-
0025161205
-
Accurate assessment of intragenic recombination frequency within the Duchenne muscular dystrophy gene
-
Abbs S, Roberts RG, Mathew CG, Bentley DR, Bobrow M: Accurate assessment of intragenic recombination frequency within the Duchenne muscular dystrophy gene. Genomics 1990, 7:602-606
-
(1990)
Genomics
, vol.7
, pp. 602-606
-
-
Abbs, S.1
Roberts, R.G.2
Mathew, C.G.3
Bentley, D.R.4
Bobrow, M.5
-
13
-
-
0026950937
-
Two hot spots of recombination in the DMD gene correlate with the deletion prone regions
-
Oudet C, Hanauer A, Clemens P, Caskey T, Mandel JL: Two hot spots of recombination in the DMD gene correlate with the deletion prone regions. Hum Mol Genet 1992, 1:599-603
-
(1992)
Hum Mol Genet
, vol.1
, pp. 599-603
-
-
Oudet, C.1
Hanauer, A.2
Clemens, P.3
Caskey, T.4
Mandel, J.L.5
-
14
-
-
0029098955
-
Mapping dystrophin gene recombinants in Greek DMD/BMD families: Low recombination frequencies in the STR region
-
Florentin L, Bili C, Kekou K, Tripodis N, Mavrou A, Metaxotou C: Mapping dystrophin gene recombinants in Greek DMD/BMD families: low recombination frequencies in the STR region. Hum Genet 1995, 96:423-426
-
(1995)
Hum Genet
, vol.96
, pp. 423-426
-
-
Florentin, L.1
Bili, C.2
Kekou, K.3
Tripodis, N.4
Mavrou, A.5
Metaxotou, C.6
-
15
-
-
18144365153
-
Analysis of dystrophin gene deletions indicates that the hinge III region of the protein correlates with disease severity
-
Carsana A, Frisso G, Tremolaterra MR, Lanzillo R, Vitale DF, Santoro L, Salvatore F: Analysis of dystrophin gene deletions indicates that the hinge III region of the protein correlates with disease severity. Ann Hum Genet 2005, 69:253-259
-
(2005)
Ann Hum Genet
, vol.69
, pp. 253-259
-
-
Carsana, A.1
Frisso, G.2
Tremolaterra, M.R.3
Lanzillo, R.4
Vitale, D.F.5
Santoro, L.6
Salvatore, F.7
-
16
-
-
23444433414
-
Iwo dinucleotide repeat polymorphisms at the DMD locus
-
King SC, Stapleton PM, Walker AP, Love DR: Iwo dinucleotide repeat polymorphisms at the DMD locus. Hum Mol Genet 1994, 3:523
-
(1994)
Hum Mol Genet
, vol.3
, pp. 523
-
-
King, S.C.1
Stapleton, P.M.2
Walker, A.P.3
Love, D.R.4
-
17
-
-
0028840821
-
Molecular characterization of further dystrophin gene microsatellites
-
King SC, Roche AL, Passos-Bueno MR, Takata R, Zatz M, Cockburn DJ, Seller A, Stapleton PM, Love DR: Molecular characterization of further dystrophin gene microsatellites. Mol Cell Probes 1995, 9:361-370
-
(1995)
Mol Cell Probes
, vol.9
, pp. 361-370
-
-
King, S.C.1
Roche, A.L.2
Passos-Bueno, M.R.3
Takata, R.4
Zatz, M.5
Cockburn, D.J.6
Seller, A.7
Stapleton, P.M.8
Love, D.R.9
-
18
-
-
0028986850
-
Iwo polymorphic dinucleotide repeats in intron 44 of the dystrophin gene
-
Köchling S, den Dunnen JT, Dworniczak B, Horst J: Iwo polymorphic dinucleotide repeats in intron 44 of the dystrophin gene. Hum Genet 1995, 95:475-477
-
(1995)
Hum Genet
, vol.95
, pp. 475-477
-
-
Köchling, S.1
den Dunnen, J.T.2
Dworniczak, B.3
Horst, J.4
-
19
-
-
28544440264
-
Detection of a novel dystrophin gene mutation through carrier analysis performed during prenatal diagnosis in a case with intragenic recombination
-
Percesepe A, Ferrari M, Coviello D, Zanussi M, Castagni M, Neri I, Travi M, Forabosco A, Tedeschi S: Detection of a novel dystrophin gene mutation through carrier analysis performed during prenatal diagnosis in a case with intragenic recombination. Prenat Diagn 2005, 25:1011-1014
-
(2005)
Prenat Diagn
, vol.25
, pp. 1011-1014
-
-
Percesepe, A.1
Ferrari, M.2
Coviello, D.3
Zanussi, M.4
Castagni, M.5
Neri, I.6
Travi, M.7
Forabosco, A.8
Tedeschi, S.9
-
20
-
-
0033820777
-
Analysis of dinucleotide repeat loci of dystrophin gene for carrier detection, germline mosaicism and de novo mutations in Duchenne muscular dystrophy
-
Chaturvedi LS, Mittal RD, Srivastasa S, Mukherjee M, Mittal B: Analysis of dinucleotide repeat loci of dystrophin gene for carrier detection, germline mosaicism and de novo mutations in Duchenne muscular dystrophy. Clin Genet 2000, 58:234-236
-
(2000)
Clin Genet
, vol.58
, pp. 234-236
-
-
Chaturvedi, L.S.1
Mittal, R.D.2
Srivastasa, S.3
Mukherjee, M.4
Mittal, B.5
-
21
-
-
5444266249
-
Detection of germline mosaicism in two Duchenne muscular dystrophy families using polymorphic dinucleotide (CA)n repeat loci within the dystrophin gene
-
Ferreiro V, Szijan I, Giliberto F: Detection of germline mosaicism in two Duchenne muscular dystrophy families using polymorphic dinucleotide (CA)n repeat loci within the dystrophin gene. Mol Diagn 2004, 8:115-121
-
(2004)
Mol Diagn
, vol.8
, pp. 115-121
-
-
Ferreiro, V.1
Szijan, I.2
Giliberto, F.3
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