Presymptomatic testing in myotonic dystrophy: genetic counselling approaches

被引：16

作者：

Fokstuen, S ^{[1
]}

Myring, J ^{[1
]}

Evans, C ^{[1
]}

Harper, PS ^{[1
]}

机构：

[1] Cardiff Univ, Inst Med Genet, Cardiff CF4 4XN, S Glam, Wales

来源：

JOURNAL OF MEDICAL GENETICS | 2001年 / 38卷 / 12期

关键词：

D O I：

10.1136/jmg.38.12.846

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：846 / 850

页数：5

共 11 条

[1] *ADV COMM GEN TEST, 1997, GEN TESXT LAT ONS DI
[2] 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, JD
MCCURRACH, ME
HARLEY, HG
BUCKLER, AJ
CHURCH, D
ABURATANI, H
HUNTER, K
STANTON, VP
THIRION, JP
HUDSON, T
SOHN, R
ZEMELMAN, B
SNELL, RG
RUNDLE, SA
CROW, S
DAVIES, J
SHELBOURNE, P
BUXTON, J
JONES, C
JUVONEN, V
JOHNSON, K
HARPER, PS
SHAW, DJ
HOUSMAN, DE
[J]. CELL, 1992, 68 (04) : 799 - 808
[3] MYOTONIC-DYSTROPHY - PREDICTIVE VALUE OF NORMAL RESULTS ON CLINICAL EXAMINATION
BRUNNER, HG
SMEETS, HJM
NILLESEN, W
VANOOST, BA
VANDENBIEZENBOS, JBM
JOOSTEN, EMG
PINCKERS, AJLG
HAMEL, BCJ
THEEUWES, AGM
WIERINGA, B
ROPERS, HH
[J]. BRAIN, 1991, 114 : 2303 - 2311
[4] Presymptomatic testing in myotonic dystrophy: genetic counselling approaches
Fokstuen, S
Myring, J
Evans, C
Harper, PS
[J]. JOURNAL OF MEDICAL GENETICS, 2001, 38 (12) : 846 - 850
[5] Gennarelli M, 1996, AM J MED GENET, V65, P342, DOI 10.1002/(SICI)1096-8628(19961111)65:4<342::AID-AJMG18>3.0.CO
[6] 2-U
[7] Harper P.S. Monckton., 2001, MYOTONIC DYSTROPHY, V3e
[8] Ten years of presymptomatic testing for Huntington's disease: the experience of the UK Huntington's Disease Prediction Consortium
Harper, PS
Lim, C
Craufurd, D
[J]. JOURNAL OF MEDICAL GENETICS, 2000, 37 (08) : 567 - 571
[9] A NOVEL GENE CONTAINING A TRINUCLEOTIDE REPEAT THAT IS EXPANDED AND UNSTABLE ON HUNTINGTONS-DISEASE CHROMOSOMES
MACDONALD, ME
AMBROSE, CM
DUYAO, MP
MYERS, RH
LIN, C
SRINIDHI, L
BARNES, G
TAYLOR, SA
JAMES, M
GROOT, N
MACFARLANE, H
JENKINS, B
ANDERSON, MA
WEXLER, NS
GUSELLA, JF
BATES, GP
BAXENDALE, S
HUMMERICH, H
KIRBY, S
NORTH, M
YOUNGMAN, S
MOTT, R
ZEHETNER, G
SEDLACEK, Z
POUSTKA, A
FRISCHAUF, AM
LEHRACH, H
BUCKLER, AJ
CHURCH, D
DOUCETTESTAMM, L
ODONOVAN, MC
RIBARAMIREZ, L
SHAH, M
STANTON, VP
STROBEL, SA
DRATHS, KM
WALES, JL
DERVAN, P
HOUSMAN, DE
ALTHERR, M
SHIANG, R
THOMPSON, L
FIELDER, T
WASMUTH, JJ
TAGLE, D
VALDES, J
ELMER, L
ALLARD, M
CASTILLA, L
SWAROOP, M
[J]. CELL, 1993, 72 (06) : 971 - 983
[10] 5 YEARS EXPERIENCE OF PREDICTIVE TESTING FOR MYOTONIC-DYSTROPHY USING LINKED DNA MARKERS
REARDON, W
FLOYD, JL
MYRING, J
LAZAROU, LP
MEREDITH, AL
HARPER, PS
[J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 1992, 43 (06): : 1006 - 1011

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