-
1
-
-
33749261633
-
Myotonic dystrophies type 1 and 2: a summary on current aspects
-
Schara U., and Schoser B.G. Myotonic dystrophies type 1 and 2: a summary on current aspects. Semin Pediatr Neurol 13 2 (2006) 71-79
-
(2006)
Semin Pediatr Neurol
, vol.13
, Issue.2
, pp. 71-79
-
-
Schara, U.1
Schoser, B.G.2
-
2
-
-
33845513938
-
The correlation of CTG repeat length with material and social deprivation in myotonic dystrophy
-
Laberge L., Veillette S., Mathieu J., Auclair J., and Perron M. The correlation of CTG repeat length with material and social deprivation in myotonic dystrophy. Clin Genet 71 1 (2007) 59-66
-
(2007)
Clin Genet
, vol.71
, Issue.1
, pp. 59-66
-
-
Laberge, L.1
Veillette, S.2
Mathieu, J.3
Auclair, J.4
Perron, M.5
-
3
-
-
29144433527
-
Myotonic dystrophy: does it affect ovarian follicular status and responsiveness to controlled ovarian stimulation?
-
Feyereisen E., Amar A., Kerbrat V., et al. Myotonic dystrophy: does it affect ovarian follicular status and responsiveness to controlled ovarian stimulation?. Hum Reprod 21 1 (2006) 175-182
-
(2006)
Hum Reprod
, vol.21
, Issue.1
, pp. 175-182
-
-
Feyereisen, E.1
Amar, A.2
Kerbrat, V.3
-
4
-
-
0026566108
-
Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member
-
Brook J.D., McCurrach M.E., Harley H.G., et al. Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member. Cell 68 4 (1992) 799-808
-
(1992)
Cell
, vol.68
, Issue.4
, pp. 799-808
-
-
Brook, J.D.1
McCurrach, M.E.2
Harley, H.G.3
-
5
-
-
0034646190
-
Congenital myotonic dystrophy: report of paternal transmission
-
Tanaka Y., Suzuki Y., Shimozawa N., Nanba E., and Kondo N. Congenital myotonic dystrophy: report of paternal transmission. Brain Dev 22 2 (2000) 132-134
-
(2000)
Brain Dev
, vol.22
, Issue.2
, pp. 132-134
-
-
Tanaka, Y.1
Suzuki, Y.2
Shimozawa, N.3
Nanba, E.4
Kondo, N.5
-
6
-
-
0035659065
-
Trinucleotide repeat contraction: a pitfall in prenatal diagnosis of myotonic dystrophy
-
Amiel J., Raclin V., Jouannic J.M., et al. Trinucleotide repeat contraction: a pitfall in prenatal diagnosis of myotonic dystrophy. J Med Genet 38 12 (2001) 850-852
-
(2001)
J Med Genet
, vol.38
, Issue.12
, pp. 850-852
-
-
Amiel, J.1
Raclin, V.2
Jouannic, J.M.3
-
7
-
-
33846450623
-
Prenatal diagnosis in myotonic dystrophy type 1. Thirteen years of experience: implications for reproductive counselling in DM1 families
-
Martorell L., Cobo A.M., Baiget M., Naudo M., Poza J.J., and Parra J. Prenatal diagnosis in myotonic dystrophy type 1. Thirteen years of experience: implications for reproductive counselling in DM1 families. Prenat Diagn 27 1 (2007) 68-72
-
(2007)
Prenat Diagn
, vol.27
, Issue.1
, pp. 68-72
-
-
Martorell, L.1
Cobo, A.M.2
Baiget, M.3
Naudo, M.4
Poza, J.J.5
Parra, J.6
-
8
-
-
0342980252
-
Rapid detection of expansions by PCR and non-radioactive hybridization: application for prenatal diagnosis of myotonic dystrophy
-
Zuhlke C., Atici J., Martorell L., et al. Rapid detection of expansions by PCR and non-radioactive hybridization: application for prenatal diagnosis of myotonic dystrophy. Prenat Diagn 20 1 (2000) 66-69
-
(2000)
Prenat Diagn
, vol.20
, Issue.1
, pp. 66-69
-
-
Zuhlke, C.1
Atici, J.2
Martorell, L.3
-
9
-
-
0033968645
-
Prenatal diagnosis of myotonic dystrophy using fetal DNA obtained from maternal plasma
-
Amicucci P., Gennarelli M., Novelli G., and Dallapiccola B. Prenatal diagnosis of myotonic dystrophy using fetal DNA obtained from maternal plasma. Clin Chem 46 2 (2000) 301-302
-
(2000)
Clin Chem
, vol.46
, Issue.2
, pp. 301-302
-
-
Amicucci, P.1
Gennarelli, M.2
Novelli, G.3
Dallapiccola, B.4
-
10
-
-
12444250137
-
Embryo biopsy
-
Harper J.C., Delhanty J.D., and Handyside A.H. (Eds), John Wiley & Sons, Ltd., West Sussex, UK
-
Harper J.C., and Thornhill A. Embryo biopsy. In: Harper J.C., Delhanty J.D., and Handyside A.H. (Eds). Preimplantation genetic diagnosis (2001), John Wiley & Sons, Ltd., West Sussex, UK
-
(2001)
Preimplantation genetic diagnosis
-
-
Harper, J.C.1
Thornhill, A.2
-
11
-
-
0032416351
-
Strategies for preimplantation genetic diagnosis of single gene disorders by DNA amplification
-
Wells D., and Sherlock J.K. Strategies for preimplantation genetic diagnosis of single gene disorders by DNA amplification. Prenat Diagn 18 13 (1998) 1389-1401
-
(1998)
Prenat Diagn
, vol.18
, Issue.13
, pp. 1389-1401
-
-
Wells, D.1
Sherlock, J.K.2
-
12
-
-
0026713048
-
Birth of a normal girl after in vitro fertilization and preimplantation diagnostic testing for cystic fibrosis
-
Handyside A.H., Lesko J.G., Tarin J.J., Winston R.M., and Hughes M.R. Birth of a normal girl after in vitro fertilization and preimplantation diagnostic testing for cystic fibrosis. N Engl J Med 327 13 (1992) 905-909
-
(1992)
N Engl J Med
, vol.327
, Issue.13
, pp. 905-909
-
-
Handyside, A.H.1
Lesko, J.G.2
Tarin, J.J.3
Winston, R.M.4
Hughes, M.R.5
-
13
-
-
33746903583
-
Preimplantation diagnosis for genetic susceptibility
-
Braude P. Preimplantation diagnosis for genetic susceptibility. N Engl J Med 355 6 (2006) 541-543
-
(2006)
N Engl J Med
, vol.355
, Issue.6
, pp. 541-543
-
-
Braude, P.1
-
14
-
-
33845722178
-
Five years' experience of preimplantation genetic diagnosis in the Parisian Center: outcome of the first 441 started cycles
-
Feyereisen E., Steffann J., Romana S., et al. Five years' experience of preimplantation genetic diagnosis in the Parisian Center: outcome of the first 441 started cycles. Fertil Steril 87 1 (2007) 60-73
-
(2007)
Fertil Steril
, vol.87
, Issue.1
, pp. 60-73
-
-
Feyereisen, E.1
Steffann, J.2
Romana, S.3
-
15
-
-
33846290863
-
Genetic testing of embryos: practices and perspectives of US in vitro fertilization clinics
-
Baruch S., Kaufman D., and Hudson K.L. Genetic testing of embryos: practices and perspectives of US in vitro fertilization clinics. Fertil Steril (2007)
-
(2007)
Fertil Steril
-
-
Baruch, S.1
Kaufman, D.2
Hudson, K.L.3
-
16
-
-
33846481340
-
ESHRE PGD Consortium data collection VI: cycles from January to December 2003 with pregnancy follow-up to October 2004
-
Sermon K.D., Michiels A., Harton G., et al. ESHRE PGD Consortium data collection VI: cycles from January to December 2003 with pregnancy follow-up to October 2004. Hum Reprod 22 2 (2007) 323-336
-
(2007)
Hum Reprod
, vol.22
, Issue.2
, pp. 323-336
-
-
Sermon, K.D.1
Michiels, A.2
Harton, G.3
-
17
-
-
33847133831
-
Preimplantation genetic diagnosis for myotonic dystrophy type 1: detection of crossover between the gene and the linked marker APOC2
-
Kakourou G., Dhanjal S., Daphnis D., et al. Preimplantation genetic diagnosis for myotonic dystrophy type 1: detection of crossover between the gene and the linked marker APOC2. Prenat Diagn 27 2 (2007) 111-116
-
(2007)
Prenat Diagn
, vol.27
, Issue.2
, pp. 111-116
-
-
Kakourou, G.1
Dhanjal, S.2
Daphnis, D.3
-
18
-
-
0035935216
-
PGD in the lab for triplet repeat diseases - myotonic dystrophy, Huntington's disease and Fragile-X syndrome
-
Sermon K., Seneca S., De Rycke M., et al. PGD in the lab for triplet repeat diseases - myotonic dystrophy, Huntington's disease and Fragile-X syndrome. Mol Cell Endocrinol 183 Suppl. 1 (2001) S77-S85
-
(2001)
Mol Cell Endocrinol
, vol.183
, Issue.SUPPL. 1
-
-
Sermon, K.1
Seneca, S.2
De Rycke, M.3
-
19
-
-
34147135054
-
Risk prediction for clinical phenotype in myotonic dystrophy type 1: data from 2650 patients
-
Salehi L.B., Bonifazi E., Stasio E.D., et al. Risk prediction for clinical phenotype in myotonic dystrophy type 1: data from 2650 patients. Genet Test 11 1 (2007) 84-90
-
(2007)
Genet Test
, vol.11
, Issue.1
, pp. 84-90
-
-
Salehi, L.B.1
Bonifazi, E.2
Stasio, E.D.3
-
20
-
-
33645154509
-
Transmission ratio distortion in the myotonic dystrophy locus in human preimplantation embryos
-
Dean N.L., Loredo-Osti J.C., Fujiwara T.M., et al. Transmission ratio distortion in the myotonic dystrophy locus in human preimplantation embryos. Eur J Hum Genet 14 3 (2006) 299-306
-
(2006)
Eur J Hum Genet
, vol.14
, Issue.3
, pp. 299-306
-
-
Dean, N.L.1
Loredo-Osti, J.C.2
Fujiwara, T.M.3
-
21
-
-
0027416569
-
Characterization and polymerase chain reaction (PCR) detection of an Alu deletion polymorphism in total linkage disequilibrium with myotonic dystrophy
-
Mahadevan M.S., Foitzik M.A., Surh L.C., and Korneluk R.G. Characterization and polymerase chain reaction (PCR) detection of an Alu deletion polymorphism in total linkage disequilibrium with myotonic dystrophy. Genomics 15 2 (1993) 446-448
-
(1993)
Genomics
, vol.15
, Issue.2
, pp. 446-448
-
-
Mahadevan, M.S.1
Foitzik, M.A.2
Surh, L.C.3
Korneluk, R.G.4
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