-
1
-
-
0037160782
-
The muscular dystrophies
-
DOI 10.1016/S0140-6736(02)07815-7
-
Emery AE. The muscular dystrophies. Lancet 2002;359:687-695 (Pubitemid 34203773)
-
(2002)
Lancet
, vol.359
, Issue.9307
, pp. 687-695
-
-
Emery, A.E.H.1
-
2
-
-
0027714748
-
Reappraisal of the incidence rate of Duchenne and Becker muscular dystrophies on the basis of molecular diagnosis
-
Mostacciuolo ML, Miorin M. Reapprasial of the incidence rate of Duchenne and Becker muscular dystrophies on the basis of molecular diagnosis. Neuroepidemiology 1993;12:326-330 (Pubitemid 24030020)
-
(1993)
Neuroepidemiology
, vol.12
, Issue.6
, pp. 326-330
-
-
Mostacciuolo, M.L.1
Miorin, M.2
Pegoraro, E.3
Fanin, M.4
Schiavon, F.5
Vitiello, L.6
Saad, F.A.7
Angelini, C.8
Danieli, G.A.9
-
3
-
-
0025774523
-
A convenient multiplex PCR system for the detection of dystrophin gene deletions: A comparative analysis with cDNA hybridisation shows mistypings by both methods
-
Abbs S, Yau SC, Mathew CG, Bobrow M. A convenient multiplex PCR system for the detection of dystrophin gene deletions: a comparative analysis with cDNA hybridisation shows mistypings by both methods. J Med Genet 1991;28:304-311 (Pubitemid 21922605)
-
(1991)
Journal of Medical Genetics
, vol.28
, Issue.5
, pp. 304-311
-
-
Abbs, S.1
Yau, S.C.2
Clark, S.3
Mathew, C.G.4
Bobrow, M.5
-
4
-
-
0038769897
-
Molecular diagnosis of Duchenne/Becker muscular dystrophy by polymerase chain reaction and microsatellite analysis
-
Kim UK, Chae JJ, Lee SH, Lee CC, Namkoong Y. Molecular diagnosis of Duchenne/Becker muscular dystrophy by polymerase chain reaction and microsatellite analysis. Mol Cells 2002;13:385-388 (Pubitemid 41582999)
-
(2002)
Molecules and Cells
, vol.13
, Issue.3
, pp. 385-388
-
-
Kim, U.K.1
Chae, J.J.2
Lee, S.H.3
Lee, C.C.4
Namkoong, Y.5
-
5
-
-
0024581734
-
Rapid carrier and prenatal diagnosis of Duchenne and Becker muscular dystrophy
-
Roberts R, Cole C, Hart K, Bobrow M. Rapid carrier and prenatal diagnosis of Duchenne and Becker muscular dystrophy. Nucleic Acids Res 1989;17:811-817 (Pubitemid 19042319)
-
(1989)
Nucleic Acids Research
, vol.17
, Issue.2
, pp. 811
-
-
Roberts, R.G.1
Cole, C.G.2
Hart, K.A.3
Bobrow, M.4
Bentley, D.R.5
-
6
-
-
0030453801
-
Prenatal diagnosis of Duchenne and Becker muscular dystrophy
-
DOI 10.1002/(SICI)1097-0223(199612)16:13<1187::AID-PD94>3.0.CO;2-2
-
Abbs S. Prenatal diagnosis of Duchenne and Becker muscular dystrophy. Prenat Diagn 1996;16:1187-1198 (Pubitemid 27107723)
-
(1996)
Prenatal Diagnosis
, vol.16
, Issue.13
, pp. 1187-1198
-
-
Abbs, S.1
-
7
-
-
0034755465
-
Carrier detection and prenatal molecular diagnosis in a duchenne muscular dystrophy family without any affected relative available
-
DOI 10.1016/S0003-3995(01)01084-X
-
Alcantara M, Garcia-Cavazos R, Hernández UE, Gonzalezdel Angel A, et al. Carrier detection and prenatal molecular diagnosis in a Duchenne muscular dystrophy family without any affected relative available. Ann Genet 2001;44:149-153 (Pubitemid 33044384)
-
(2001)
Annales de Genetique
, vol.44
, Issue.3
, pp. 149-153
-
-
Alcantara, M.A.1
Garcia-Cavazos, R.2
Hernandez-U, E.3
Gonzalez-Del Angel, A.4
Carnevale, A.5
Orozco, L.6
-
8
-
-
33745662155
-
Fetal gender assignment by first-trimester ultrasound
-
DOI 10.1002/uog.2674
-
Efrat Z, Perri T, Ramati E, Tugendreich D, Meizner I. Fetal gender assignment by first-trimester ultrasound. Ultrasound Obstet Gynecol 2006;27:619-620 (Pubitemid 43967362)
-
(2006)
Ultrasound in Obstetrics and Gynecology
, vol.27
, Issue.6
, pp. 619-621
-
-
Efrat, Z.1
Perri, T.2
Ramati, E.3
Tugendreich, D.4
Meizner, I.5
-
9
-
-
0020621218
-
Efficient direct chromosomal analysis and enzyme determination from chorionic villi samples in the first trimester of pregnancy
-
Simoni G, Brambati B, Danesino C, Rossella F, et al. Efficient direct chromosomal analysis and enzyme determination from chorionic villi samples in the first trimester of pregnancy. Hum Genet 1983;63:349-357
-
(1983)
Hum Genet
, vol.63
, pp. 349-357
-
-
Simoni, G.1
Brambati, B.2
Danesino, C.3
Rossella, F.4
-
10
-
-
0022047795
-
Prenatal genetic diagnosis by chorionic villus sampling (CVS)
-
Jackson L. Prenatal genetic diagnosis by chorionic villus sampling (CVS). Sem Perinatol 1985;9:209-218
-
(1985)
Sem Perinatol
, vol.9
, pp. 209-218
-
-
Jackson, L.1
-
11
-
-
0036327907
-
Familial mutation in the testis-determining gene SRY shared by an XY female and her normal father
-
DOI 10.1210/jc.87.7.3428
-
Jordan BK, Jain M, Natarajan S, Douglas Fraiser S, Vilain E. Familial mutation in the testis-determining gene SRY shared by an XY female and her normal father. J Clin Endocrinol Metab 2002;87:3428-3432 (Pubitemid 34816400)
-
(2002)
Journal of Clinical Endocrinology and Metabolism
, vol.87
, Issue.7
, pp. 3428-3432
-
-
Jordan, B.K.1
Jain, M.2
Natarajan, S.3
Douglas Frasier, S.4
Vilain, E.5
-
12
-
-
0026649684
-
First-trimester biochemical and molecular diagnoses using chorionic villi: High accuracy in the U.S. collaborative study
-
Desnick RJ, Schuette JL, Golbus MS, Jackson L, et al. First-trimester biochemical and molecular diagnoses using chorionic villi: high accuracy in the U.S. collaborative study. Prenat Diagn 1992; 12:357-372.
-
(1992)
Prenat Diagn
, vol.12
, pp. 357-372
-
-
Desnick, R.J.1
Schuette, J.L.2
Golbus, M.S.3
Jackson, L.4
-
13
-
-
0026252838
-
Diagnóstico perinatal en 350 amnocentesis
-
Grether P, Zavaleta MJ, de la Luna E, Sanchez-Solis V, et al. Diagnóstico perinatal en 350 amnocentesis. Ginecol Obstet Mex 1991;59:317-322
-
(1991)
Ginecol Obstet Mex
, vol.59
, pp. 317-322
-
-
Grether, P.1
Zavaleta, M.J.2
De La Luna, E.3
Sanchez-Solis, V.4
-
14
-
-
0032774179
-
Rapid prenatal diagnosis of aneuploidies in uncultured amniocytes by fluorescence in situ hybridization. Evaluation of 3,000 cases
-
Eiben B, Trawicki W, Hammans W, Goebel R, et al. Rapid prenatal diagnosis of aneuploidies in uncultured amniocytes by fluorescence in situ hybridization. Evaluation of 3,000 cases. Fetal Diagn Ther 1999;14:193-197
-
(1999)
Fetal Diagn Ther
, vol.14
, pp. 193-197
-
-
Eiben, B.1
Trawicki, W.2
Hammans, W.3
Goebel, R.4
-
15
-
-
0032753807
-
Analysis of five Duchenne muscular dystrophy exons and gender determination using conventional duplex polymerase chain reaction on single cells
-
DOI 10.1093/molehr/5.11.1089
-
Hussey ND, Donggui H, Froiland DAH, et al. Analysis of five Duchenne muscular dystrophy exons and gender determination using conventional duplex polymerase chain reaction on single cells. Mol Hum Reprod 1999;5:1089-1094 (Pubitemid 29518915)
-
(1999)
Molecular Human Reproduction
, vol.5
, Issue.11
, pp. 1089-1094
-
-
Hussey, N.D.1
Donggui, H.2
Froiland, D.A.H.3
Hussey, D.J.4
Haan, E.A.5
Matthews, C.D.6
Craig, J.E.7
-
16
-
-
0036116834
-
A simple and effective approach for detecting maternal cell contamination in molecular prenatal diagnosis
-
DOI 10.1002/pd.325
-
Antoniadi T, Yapijakis C, Kaminopetros P, Makatsoris C, et al. A simple and effective approach for detecting maternal cell contamination in molecular prenatal diagnosis. Prenat Diagn 2002;22:425-429 (Pubitemid 34538575)
-
(2002)
Prenatal Diagnosis
, vol.22
, Issue.5
, pp. 425-429
-
-
Antoniadi, T.1
Yapijakis, C.2
Kaminopetros, P.3
Makatsoris, C.4
Velissariou, V.5
Vassilopoulos, D.6
Petersen, M.B.7
-
17
-
-
0028126746
-
Chorionic villi sampling: Laboratory experience with 4,000 consecutive cases
-
DOI 10.1002/ajmg.1320530402
-
Wang BT, Peng W, Cheng KT, Chiu SF, et al. Chorionic villi sampling: laboratory experience with 4,000 consecutive cases. Am J Med Genet 1994;53:307-316 (Pubitemid 24364638)
-
(1994)
American Journal of Medical Genetics
, vol.53
, Issue.4
, pp. 307-316
-
-
Wang, B.T.1
Peng, W.2
Cheng, K.-T.3
Chiu, S.-F.4
Ho, W.5
Kahn, Y.6
Wittman, M.7
Williams III, J.8
-
18
-
-
30444436185
-
Attitudes towards carrier testing in minors: A systematic review
-
Borry P, Fryns JP, Schotsmans P, Dierickx K. Attitudes towards carrier testing in minors: a systematic review. Genet Couns 2005; 16:341-352 (Pubitemid 43075613)
-
(2005)
Genetic Counseling
, vol.16
, Issue.4
, pp. 341-352
-
-
Borry, P.1
Fryns, J.P.2
Schotsmans, P.3
Dierickx, K.4
-
19
-
-
0028872836
-
Points to consider: Ethical legal, and psychosocial implications of genetic testing in childhood and adolescents
-
American Society of Human Genetics, American College of Medical Genetics (ASHG/ACMG)
-
American Society of Human Genetics, American College of Medical Genetics (ASHG/ACMG). Points to consider: ethical legal, and psychosocial implications of genetic testing in childhood and adolescents. Am J Hum Genet 1995;57:1233-1241
-
(1995)
Am J Hum Genet
, vol.57
, pp. 1233-1241
-
-
-
20
-
-
31344443014
-
Carrier testing in minors: A systematic review of guidelines and position papers
-
DOI 10.1038/sj.ejhg.5201509, PII 5201509
-
Borry P, Schotsmans P, Fryns JP, Dierickx K. Carrier testing in minors: a systematic review of guidelines and positions statements. Eur J Hum Genet 2006;14:133-138 (Pubitemid 43135853)
-
(2006)
European Journal of Human Genetics
, vol.14
, Issue.2
, pp. 133-138
-
-
Borry, P.1
Fryns, J.-P.2
Schotsmans, P.3
Dierickx, K.4
-
21
-
-
0029971310
-
Development of cardiomyopathy in female carriers of Duchenne and Becker muscular dystrophies
-
DOI 10.1001/jama.275.17.1335
-
Politano L, Nigro V, Nigro G, Petretta VR, et al. Development of cardiomyopathy in female carriers of Duchenne and Becker muscular dystrophies. JAMA 1996;275:1335-1338 (Pubitemid 26131510)
-
(1996)
Journal of the American Medical Association
, vol.275
, Issue.17
, pp. 1335-1338
-
-
Politano, L.1
Nigro, V.2
Nigro, G.3
Petretta, V.R.4
Passamano, L.5
Papparella, S.6
Di Somma, S.7
Comi, L.I.8
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