SCOPUS 정보 검색 플랫폼

Volumn 38, Issue 12, 2001, Pages 846-850

Presymptomatic testing in myotonic dystrophy: Genetic counselling approaches [1]

(4) Fokstuen, S a Myring, J a Evans, C a Harper, P S a

Author keywords

[No Author keywords available]

Indexed keywords

3' UNTRANSLATED REGION; ADULT; CHILD; CHROMOSOME 19; CLINICAL ARTICLE; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; DIAGNOSTIC TEST; DISEASE SEVERITY; FEMALE; GENETIC ANALYSIS; GENETIC COUNSELING; GENETIC DISORDER; GENETIC MODEL; HETEROZYGOTE; HUMAN; HUNTINGTON CHOREA; LETTER; MALE; MYOTONIC DYSTROPHY; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; PROGNOSIS; SENSITIVITY AND SPECIFICITY;

ADOLESCENT; ADULT; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC COUNSELING; GENETIC SCREENING; HUMANS; INFANT; MALE; MUTATION; MYOTONIC DYSTROPHY; PHENOTYPE; PREGNANCY; PRENATAL DIAGNOSIS; PROTEIN-SERINE-THREONINE KINASES; TRINUCLEOTIDE REPEAT EXPANSION; WALES;

EID: 0035666070 PISSN: 00222593 EISSN: None Source Type: Journal
DOI: None Document Type: Letter

Times cited : (19)

References (10)

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2
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- Prediction of myotonic dystrophy clinical severity based on the number of intragenic (CTG)n trinucleotide repeats
- (1996) Am J Med Genet , vol.65 , pp. 342-347
- Gennarelli, M.¹ Novelli, G.² Andreasi, B.F.³ Martorell, L.⁴ Cornet, M.⁵ Menegazzo, E.⁶ Mostacciuolo, M.L.⁷ Martinez, J.M.⁸ Angelini, C.⁹ Pizzuti, A.¹⁰ Baiget, M.¹¹ Dallapiccola, B.¹²

3
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- A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
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4
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5
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- Eight years experience of direct molecular testing for myotonic dystrophy in Wales
- (2001) J Med Genet , vol.38
- Fokstuen, S.¹ Myring, J.² Meredith, L.³ Ravine, D.⁴ Harper, P.S.⁵

6
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- London: Department of Health
- Genetic testing for late onset disorders , pp. 1997

7
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- Ten years of presymptomatic testing for Huntington's disease: The experience of the UK Huntington's Disease Prediction Consortium
- (2000) J Med Genet , vol.37 , pp. 567-571
- Harper, P.S.¹ Lim, C.² Craufurd, D.³

8
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- Myotonic dystrophy predictive value of normal results on clinical examination
- (1991) Brain , vol.144 , pp. 2303-2311
- Brunner, H.G.¹ Smeets, H.J.M.² Nillesen, W.³ Van Oost, B.A.⁴ Van Den Biezenbos, J.B.M.⁵ Joosten, E.D.M.G.⁶ Pinckers, A.J.L.G.⁷ Hamel, B.C.J.⁸ Theeuwes, A.D.G.M.⁹ Wieringa, B.¹⁰ Ropers, H.H.¹¹

9
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10
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- London: Saunders
- (2001) Myotonic dystrophy. 3rd ed.
- Harper, P.S.¹

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.