-
1
-
-
0026522569
-
Analysis of quantitative PCR for the diagnosis of deletion and duplication carriers in the dystrophin gene
-
Abbs, S. and Bobrow, M. (1992) Analysis of quantitative PCR for the diagnosis of deletion and duplication carriers in the dystrophin gene. J. Med. Genet., 29, 191-196.
-
(1992)
J. Med. Genet.
, vol.29
, pp. 191-196
-
-
Abbs, S.1
Bobrow, M.2
-
2
-
-
0025161205
-
Accurate assessment of intragenic recombination frequency within the Duchenne muscular dystrophy gene
-
Abbs, S., Roberts, R.G., Mathew, C.G., Bentley, D.R. and Bobrow, M. (1990) Accurate assessment of intragenic recombination frequency within the Duchenne muscular dystrophy gene. Genomics, 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
-
3
-
-
0036296668
-
First application of preimplantation genetic diagnosis to neurofibromatosis type 2 (NF2)
-
Abou-Sleiman, P.M., Apessos, A., Harper, J.C., Serhal, P., Winston, R.M. and Delhanty, J.D. (2002) First application of preimplantation genetic diagnosis to neurofibromatosis type 2 (NF2). Prenat. Diagn., 22, 519-524.
-
(2002)
Prenat. Diagn.
, vol.22
, pp. 519-524
-
-
Abou-Sleiman, P.M.1
Apessos, A.2
Harper, J.C.3
Serhal, P.4
Winston, R.M.5
Delhanty, J.D.6
-
4
-
-
0025244924
-
Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction
-
Beggs, A.H., Koenig, M., Boyce, F.M. and Kunkel, L.M. (1990) Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction. Hum. Genet., 86, 45-48.
-
(1990)
Hum. Genet.
, vol.86
, pp. 45-48
-
-
Beggs, A.H.1
Koenig, M.2
Boyce, F.M.3
Kunkel, L.M.4
-
5
-
-
0024245082
-
Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification
-
Chamberlain, J.S., Gibbs, R.A., Ranier, J.E., Nguyen, P.N. and Caskey, C.T. (1988) Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification. Nucleic Acids Res., 16, 11141-11156.
-
(1988)
Nucleic Acids Res.
, vol.16
, pp. 11141-11156
-
-
Chamberlain, J.S.1
Gibbs, R.A.2
Ranier, J.E.3
Nguyen, P.N.4
Caskey, C.T.5
-
6
-
-
0027178898
-
Preimplantation prevention of X-linked disease: Reliable and rapid sex determination of single human cells by restriction analysis of simultaneously amplified ZFX and ZFY sequences
-
Chong, S.S., Kristjansson, K., Cota, J., Handyside, A.H. and Hughes, M.R. (1993) Preimplantation prevention of X-linked disease: reliable and rapid sex determination of single human cells by restriction analysis of simultaneously amplified ZFX and ZFY sequences. Hum. Mol. Genet., 2, 1187-1191.
-
(1993)
Hum. Mol. Genet.
, vol.2
, pp. 1187-1191
-
-
Chong, S.S.1
Kristjansson, K.2
Cota, J.3
Handyside, A.H.4
Hughes, M.R.5
-
7
-
-
0024399081
-
Single-sperm typing: Determination of genetic distance between the G gamma-globin and parathyroid hormone loci by using the polymerase chain reaction and allele-specific oligomers
-
Cui, X.F., Li, H.H., Goradia, T.M., Lange, K., Kazazian, H.H.J., Galas, D. and Arnheim, N. (1989) Single-sperm typing: determination of genetic distance between the G gamma-globin and parathyroid hormone loci by using the polymerase chain reaction and allele-specific oligomers. Proc. Natl Acad. Sci. USA, 86, 9389-9393.
-
(1989)
Proc. Natl Acad. Sci. USA
, vol.86
, pp. 9389-9393
-
-
Cui, X.F.1
Li, H.H.2
Goradia, T.M.3
Lange, K.4
Kazazian, H.H.J.5
Galas, D.6
Arnheim, N.7
-
8
-
-
0023739265
-
Normal human genomic restriction-fragment patterns and polymorphisms revealed by hybridization with the entire dystrophin cDNA
-
Darras, B.T. and Francke, U. (1988) Normal human genomic restriction-fragment patterns and polymorphisms revealed by hybridization with the entire dystrophin cDNA. Am. J. Hum. Genet., 43, 612-619.
-
(1988)
Am. J. Hum. Genet.
, vol.43
, pp. 612-619
-
-
Darras, B.T.1
Francke, U.2
-
9
-
-
0024815723
-
Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications
-
Den Dunnen, J.T., Grootscholten, P.M., Bakker, E., Blonden, L.A., Ginjaar, H.B., Wapenaar, M.C., van Paassen, H.M., van Broeckhoven, C., Pearson, P.L. and van Ommen, G.J. (1989) Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications. Am. J. Hum. Genet., 45, 835-847.
-
(1989)
Am. J. Hum. Genet.
, vol.45
, pp. 835-847
-
-
Den Dunnen, J.T.1
Grootscholten, P.M.2
Bakker, E.3
Blonden, L.A.4
Ginjaar, H.B.5
Wapenaar, M.C.6
van Paassen, H.M.7
van Broeckhoven, C.8
Pearson, P.L.9
van Ommen, G.J.10
-
10
-
-
0025998134
-
Population frequencies of inherited neuromuscular diseases - A world survey
-
Emery, A.E. (1991) Population frequencies of inherited neuromuscular diseases - a world survey. Neuromusc. Disord., 1, 19-29.
-
(1991)
Neuromusc. Disord.
, vol.1
, pp. 19-29
-
-
Emery, A.E.1
-
11
-
-
0025815479
-
Membrane organization of the dystrophin-glycoprotein complex
-
Ervasti, J.M. and Campbell, K.P. (1991) Membrane organization of the dystrophin-glycoprotein complex. Cell, 66, 1121-1131.
-
(1991)
Cell
, vol.66
, pp. 1121-1131
-
-
Ervasti, J.M.1
Campbell, K.P.2
-
12
-
-
0037292375
-
First preimplantation genetic diagnosis of hereditary retinoblastoma using informative microsatellite markers
-
Girardet, A., Hamamah, S., Anahory, T., Déchaud, H., Sarda, P., Hédon, B., Demaille, J. and Claustres, M. (2003) First preimplantation genetic diagnosis of hereditary retinoblastoma using informative microsatellite markers. Mol. Hum. Reprod., 9, 111-116.
-
(2003)
Mol. Hum. Reprod.
, vol.9
, pp. 111-116
-
-
Girardet, A.1
Hamamah, S.2
Anahory, T.3
Déchaud, H.4
Sarda, P.5
Hédon, B.6
Demaille, J.7
Claustres, M.8
-
13
-
-
0002198654
-
Cleavage stage biopsy of human embryos and diagnosis of X-linked recessive disease
-
Edwards, R.G. (ed.), Cambridge University Press, Cambridge
-
Handyside, A.H. and Delhanty, J.D.A. (1993) Cleavage stage biopsy of human embryos and diagnosis of X-linked recessive disease. In Edwards, R.G. (ed.), Preimplantation Diagnosis of Human Genetic Disease. Cambridge University Press, Cambridge, pp. 239-270.
-
(1993)
Preimplantation Diagnosis of Human Genetic Disease
, pp. 239-270
-
-
Handyside, A.H.1
Delhanty, J.D.A.2
-
14
-
-
0025307919
-
Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification
-
Handyside, A.H., Kontogianni, E.H., Hardy, K. and Winston, R.M. (1990) Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification. Nature, 344, 768-770.
-
(1990)
Nature
, vol.344
, pp. 768-770
-
-
Handyside, A.H.1
Kontogianni, E.H.2
Hardy, K.3
Winston, R.M.4
-
15
-
-
0036057249
-
Pregnancy after preimplantation genetic diagnosis for ataxia telangiectasia
-
Hellani, A., Lauge, A., Ozand, P., Jaroudi, K. and Coskun, S. (2002) Pregnancy after preimplantation genetic diagnosis for ataxia telangiectasia. Mol. Hum. Reprod., 8, 785-788.
-
(2002)
Mol. Hum. Reprod.
, vol.8
, pp. 785-788
-
-
Hellani, A.1
Lauge, A.2
Ozand, P.3
Jaroudi, K.4
Coskun, S.5
-
16
-
-
0023614188
-
Dystrophin: The protein product of the Duchenne muscular dystrophy locus
-
Hoffman, E.P., Brown, R.H. Jr and Kunkel, L.M. (1987) Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell, 51, 919-928.
-
(1987)
Cell
, vol.51
, pp. 919-928
-
-
Hoffman, E.P.1
Brown R.H., Jr.2
Kunkel, L.M.3
-
17
-
-
0023906647
-
Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne's or Becker's muscular dystrophy
-
Hoffman, E.P., Fischbeck, K.H., Brown, R.H., Johnson, M., Medori, R., Loike, J.D., Harris, J.B., Waterston, R., Brooke, M., Specht, L. et al. (1988) Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne's or Becker's muscular dystrophy. N. Engl. J. Med., 318, 1363-1368.
-
(1988)
N. Engl. J. Med.
, vol.318
, pp. 1363-1368
-
-
Hoffman, E.P.1
Fischbeck, K.H.2
Brown, R.H.3
Johnson, M.4
Medori, R.5
Loike, J.D.6
Harris, J.B.7
Waterston, R.8
Brooke, M.9
Specht, L.10
-
18
-
-
0032753807
-
Analysis of five Duchenne muscular dystrophy exons and gender determination using conventional duplex polymerase chain reaction on single cells
-
Hussey, N.D., Donggui, H., Froiland, D.A., Hussey, D.J., Haan, E.A., Matthews, C.D. and Craig, J.E. (1999) Analysis of five Duchenne muscular dystrophy exons and gender determination using conventional duplex polymerase chain reaction on single cells. Mol. Hum. Reprod., 5, 1089-1094.
-
(1999)
Mol. Hum. Reprod.
, vol.5
, pp. 1089-1094
-
-
Hussey, N.D.1
Donggui, H.2
Froiland, D.A.3
Hussey, D.J.4
Haan, E.A.5
Matthews, C.D.6
Craig, J.E.7
-
19
-
-
0038769897
-
Molecular diagnosis of Duchenne/Becker muscular dystrophy by polymerase chain reaction and microsatellite analysis
-
Kim, U.K., Chae, J.J., Lee, S.H., Lee, C.C. and Namkoong, Y. (2002) Molecular diagnosis of Duchenne/Becker muscular dystrophy by polymerase chain reaction and microsatellite analysis. Mol. Cells, 13, 385-388.
-
(2002)
Mol. Cells
, vol.13
, pp. 385-388
-
-
Kim, U.K.1
Chae, J.J.2
Lee, S.H.3
Lee, C.C.4
Namkoong, Y.5
-
20
-
-
0023614271
-
Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals
-
Koenig, M., Hoffman, E.P., Bertelson, C.J., Monaco, A.P., Feener, C. and Kunkel, L.M. (1987) Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell, 50, 509-517.
-
(1987)
Cell
, vol.50
, pp. 509-517
-
-
Koenig, M.1
Hoffman, E.P.2
Bertelson, C.J.3
Monaco, A.P.4
Feener, C.5
Kunkel, L.M.6
-
21
-
-
0028240477
-
Preimplantation single cell analyses of dystrophin gene deletions using whole genome amplification
-
Kristjansson, K., Chong, S.S., Van den Veyver, I.B., Subramanian, S., Snabes, M.C. and Hughes, M.R. (1994) Preimplantation single cell analyses of dystrophin gene deletions using whole genome amplification. Nature Genet., 6, 19-23.
-
(1994)
Nature Genet.
, vol.6
, pp. 19-23
-
-
Kristjansson, K.1
Chong, S.S.2
Van den Veyver, I.B.3
Subramanian, S.4
Snabes, M.C.5
Hughes, M.R.6
-
22
-
-
7144253137
-
Preimplantation diagnosis of thalassemias
-
Kuliev, A., Rechitsky, S., Verlinsky, O., Ivakhnenko, V., Evsikov, S., Wolf, G., Angastiniotis, M., Georghiou, D., Kukharenko, V., Strom, C. and Verlinsky, Y. (1998) Preimplantation diagnosis of thalassemias. J. Assist. Reprod. Genet., 15, 219-225.
-
(1998)
J. Assist. Reprod. Genet.
, vol.15
, pp. 219-225
-
-
Kuliev, A.1
Rechitsky, S.2
Verlinsky, O.3
Ivakhnenko, V.4
Evsikov, S.5
Wolf, G.6
Angastiniotis, M.7
Georghiou, D.8
Kukharenko, V.9
Strom, C.10
Verlinsky, Y.11
-
23
-
-
0031959726
-
Preimplantation diagnosis of non-deletion Duchenne muscular dystrophy (DMD) by linkage polymerase chain reaction analysis
-
Lee, S.H., Kwak, I.P., Cha, K.E., Park, S.E., Kim, N.K. and Cha, K.Y. (1998) Preimplantation diagnosis of non-deletion Duchenne muscular dystrophy (DMD) by linkage polymerase chain reaction analysis. Mol. Hum. Reprod., 4, 345-349.
-
(1998)
Mol. Hum. Reprod.
, vol.4
, pp. 345-349
-
-
Lee, S.H.1
Kwak, I.P.2
Cha, K.E.3
Park, S.E.4
Kim, N.K.5
Cha, K.Y.6
-
24
-
-
0035181862
-
Controlling misdiagnosis errors in preimplantation genetic diagnosis: A comprehensive model encompassing extrinsic and intrinsic sources of error
-
Lewis , C.M., Pinel, T., Whittaker, J.C. and Handyside, A.H. (2001) Controlling misdiagnosis errors in preimplantation genetic diagnosis: a comprehensive model encompassing extrinsic and intrinsic sources of error. Hum. Reprod., 16, 43-50.
-
(2001)
Hum. Reprod.
, vol.16
, pp. 43-50
-
-
Lewis, C.M.1
Pinel, T.2
Whittaker, J.C.3
Handyside, A.H.4
-
25
-
-
0028968665
-
Normal pregnancy after preimplantation DNA diagnosis of a dystrophin gene deletion
-
Liu, J., Lissens, W., Van Broeckhoven, C., Lofgren, A., Camus, M., Liebaers, I. and Van Steirteghem, A. (1995) Normal pregnancy after preimplantation DNA diagnosis of a dystrophin gene deletion. Prenat. Diagn., 15, 351-358.
-
(1995)
Prenat. Diagn.
, vol.15
, pp. 351-358
-
-
Liu, J.1
Lissens, W.2
Van Broeckhoven, C.3
Lofgren, A.4
Camus, M.5
Liebaers, I.6
Van Steirteghem, A.7
-
26
-
-
0035059956
-
A successful strategy for preimplantation genetic diagnosis of myotonic dystrophy using multiplex fluorescent PCR
-
Piyamongkol, W., Harper, J.C., Sherlock, J.K., Doshi, A., Serhal, P.F., Delhanty, J.D. and Wells, D. (2001) A successful strategy for preimplantation genetic diagnosis of myotonic dystrophy using multiplex fluorescent PCR. Prenat. Diagn., 21, 223-232.
-
(2001)
Prenat. Diagn.
, vol.21
, pp. 223-232
-
-
Piyamongkol, W.1
Harper, J.C.2
Sherlock, J.K.3
Doshi, A.4
Serhal, P.F.5
Delhanty, J.D.6
Wells, D.7
-
27
-
-
0035011855
-
Single cell multiplex PCR amplification of five dystrophin gene exons combined with gender determination
-
Ray, P.F., Vekemans, M. and Munnich, A. (2001) Single cell multiplex PCR amplification of five dystrophin gene exons combined with gender determination. Mol. Hum. Reprod., 7, 489-494.
-
(2001)
Mol. Hum. Reprod.
, vol.7
, pp. 489-494
-
-
Ray, P.F.1
Vekemans, M.2
Munnich, A.3
-
28
-
-
0027232968
-
Exon structure of the human dystrophin gene
-
Roberts, R.G., Coffey, A.J., Bobrow, M. and Bentley, D.R. (1993) Exon structure of the human dystrophin gene. Genomics, 16, 536-538.
-
(1993)
Genomics
, vol.16
, pp. 536-538
-
-
Roberts, R.G.1
Coffey, A.J.2
Bobrow, M.3
Bentley, D.R.4
-
29
-
-
0028340208
-
Preimplantation single-cell analysis of multiple genetic loci by whole-genome amplification
-
Snabes, M.C., Chong, S.S., Subramanian, S.B., Kristjansson, K., DiSepio, D. and Hughes, M.R. (1994) Preimplantation single-cell analysis of multiple genetic loci by whole-genome amplification. Proc. Natl Acad. Sci. USA, 91, 6181-6185.
-
(1994)
Proc. Natl. Acad. Sci. USA
, vol.91
, pp. 6181-6185
-
-
Snabes, M.C.1
Chong, S.S.2
Subramanian, S.B.3
Kristjansson, K.4
DiSepio, D.5
Hughes, M.R.6
-
30
-
-
0032892115
-
Clinical experience of sex determination by fluorescent in-situ hybridization for preimplantation genetic diagnosis
-
Staessen, C., Van Assche, E., Joris, H., Bonduelle, M., Vandervorst, M., Liebaers, I. and Van Steirteghem, A. (1999) Clinical experience of sex determination by fluorescent in-situ hybridization for preimplantation genetic diagnosis. Mol. Hum. Reprod, 5, 382-389.
-
(1999)
Mol. Hum. Reprod.
, vol.5
, pp. 382-389
-
-
Staessen, C.1
Van Assche, E.2
Joris, H.3
Bonduelle, M.4
Vandervorst, M.5
Liebaers, I.6
Van Steirteghem, A.7
-
31
-
-
0036919646
-
Rare failures in the amelogenin sex test
-
Steinlechner, M., Berger, B., Niederstatter, H. and Parson, W. (2002) Rare failures in the amelogenin sex test. Int. J. Legal Med., 116, 117-120.
-
(2002)
Int. J. Legal Med.
, vol.116
, pp. 117-120
-
-
Steinlechner, M.1
Berger, B.2
Niederstatter, H.3
Parson, W.4
-
32
-
-
0036915569
-
Is the amelogenin gene reliable for gender identification in forensic casework and prenatal diagnosis?
-
Thangaraj, K., Reddy, A.G. and Singh, L. (2002) Is the amelogenin gene reliable for gender identification in forensic casework and prenatal diagnosis? Int. J. Legal Med., 116, 121-123.
-
(2002)
Int. J. Legal Med.
, vol.116
, pp. 121-123
-
-
Thangaraj, K.1
Reddy, A.G.2
Singh, L.3
-
33
-
-
0031900882
-
Mutation analysis of the dystrophin gene in Southern French DMD or BMD families: From Southern blot to protein truncation test
-
Tuffery, S., Chambert, S., Bareil, C., Sarda, P., Coubes, C., Echenne, B., Demaille, J. and Claustres, M. (1998) Mutation analysis of the dystrophin gene in Southern French DMD or BMD families: from Southern blot to protein truncation test. Hum. Genet., 102, 334-342.
-
(1998)
Hum. Genet.
, vol.102
, pp. 334-342
-
-
Tuffery, S.1
Chambert, S.2
Bareil, C.3
Sarda, P.4
Coubes, C.5
Echenne, B.6
Demaille, J.7
Claustres, M.8
-
34
-
-
0034901673
-
Preimplantation testing for phenylketonuria
-
Verlinsky, Y., Rechitsky, S., Verlinsky, O., Strom, C. and Kuliev, A. (2001) Preimplantation testing for phenylketonuria. Fertil. Steril., 76, 346-349.
-
(2001)
Fertil. Steril.
, vol.76
, pp. 346-349
-
-
Verlinsky, Y.1
Rechitsky, S.2
Verlinsky, O.3
Strom, C.4
Kuliev, A.5
-
35
-
-
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., Krick, M., Vollebregt, E., Bakker, B., van Ommen, G.J., Breuning, M.H. and den Dunnen, J.T. (2002) Comprehensive detection of genomic duplications and deletions in the DMD gene, by use of multiplex amplifiable probe hybridization. Am. J. Hum. Genet., 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
Krick, M.6
Vollebregt, E.7
Bakker, B.8
van Ommen, G.J.9
Breuning, M.H.10
den Dunnen, J.T.11
-
36
-
-
0026755807
-
Whole genome amplification from a single cell: Implications for genetic analysis
-
Zhang, L., Cui, X., Schmitt, K., Hubert, R., Navidi, W. and Arnheim, N. (1992) Whole genome amplification from a single cell: implications for genetic analysis. Proc. Natl Acad. Sci. USA, 89, 5847-5851.
-
(1992)
Proc. Natl. Acad. Sci. USA
, vol.89
, pp. 5847-5851
-
-
Zhang, L.1
Cui, X.2
Schmitt, K.3
Hubert, R.4
Navidi, W.5
Arnheim, N.6
|