메뉴 건너뛰기




Volumn 13, Issue 3, 1998, Pages 126-131

Genetic counceling in neurology: Practical and ethical considerations;El consejo genetico en neurologia: Aspectos practicos y eticos

Author keywords

[No Author keywords available]

Indexed keywords

CONFIDENTIALITY; DEGENERATIVE DISEASE; GENETIC COUNSELING; HUMAN; MEDICAL ETHICS; NEUROLOGY; RECURRENCE RISK; REVIEW; GENETICS;

EID: 0031958573     PISSN: 02134853     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review
Times cited : (1)

References (22)
  • 1
    • 0028923465 scopus 로고
    • Recommendations for standardised human pedigree nomenclature. Pedigree Standardisation Task Force of the National Society of Genetic Counselors
    • Bennett RL, Steinhaus KA, Uhrich SB, O'Sullivan CK, Resta RG, Lochner-Doyle D et al. Recommendations for standardised human pedigree nomenclature. Pedigree Standardisation Task Force of the National Society of Genetic Counselors. Am J Hum Genet 1995; 56: 745-752.
    • (1995) Am J Hum Genet , vol.56 , pp. 745-752
    • Bennett, R.L.1    Steinhaus, K.A.2    Uhrich, S.B.3    O'Sullivan, C.K.4    Resta, R.G.5    Lochner-Doyle, D.6
  • 2
    • 0001025959 scopus 로고
    • Offering genetic testing for Huntington's disease in a medical genetics clinic: Practical applications
    • Bennett RL, Bird TD, Teri L. Offering genetic testing for Huntington's disease in a medical genetics clinic: practical applications. J Genet Counseling 1993; 2: 123-137.
    • (1993) J Genet Counseling , vol.2 , pp. 123-137
    • Bennett, R.L.1    Bird, T.D.2    Teri, L.3
  • 3
    • 0030860376 scopus 로고    scopus 로고
    • α-Synuclein- a link between Parkinson and Alzheimer diseases?
    • Heintz N, Zoghbi H. α-Synuclein- a link between Parkinson and Alzheimer diseases? Nature Genet 1997; 16: 325-327.
    • (1997) Nature Genet , vol.16 , pp. 325-327
    • Heintz, N.1    Zoghbi, H.2
  • 4
    • 0024510023 scopus 로고
    • Distinction of Becker from limb-girdle muscular dystrophy by means of cDNA probes
    • Norman A, Thomas N, Coakley J, Harper P. Distinction of Becker from limb-girdle muscular dystrophy by means of cDNA probes. Lancet 1989; 1: 466-468.
    • (1989) Lancet , vol.1 , pp. 466-468
    • Norman, A.1    Thomas, N.2    Coakley, J.3    Harper, P.4
  • 5
    • 0026002798 scopus 로고
    • The frequency of patients with dystrophin abnormalities in a limb-girdle patient population
    • Arikawa E, Hoffman EP, Kaido M, Nonaka I, Sugita H, Arahata K. The frequency of patients with dystrophin abnormalities in a limb-girdle patient population. Neurology 1991; 41: 1.491-1.496.
    • (1991) Neurology , vol.41
    • Arikawa, E.1    Hoffman, E.P.2    Kaido, M.3    Nonaka, I.4    Sugita, H.5    Arahata, K.6
  • 6
    • 0030444937 scopus 로고    scopus 로고
    • Beyond dystrophin. Current progress in muscular dystrophies
    • Bönnemann CG, McNally EM, Kunkel LM. Beyond dystrophin. Current progress in muscular dystrophies. Curr Opin Pediatr 1996; 8: 569-582.
    • (1996) Curr Opin Pediatr , vol.8 , pp. 569-582
    • Bönnemann, C.G.1    McNally, E.M.2    Kunkel, L.M.3
  • 8
    • 0027176364 scopus 로고
    • The relationship between trinucleotide (CAG) repeat length and the clinical features of Huntington's disease
    • Andrew SE, Goldberg YP, Kremer B, Telenius H, Theilman J, Adam S et al. The relationship between trinucleotide (CAG) repeat length and the clinical features of Huntington's disease. Nat Genet 1993; 4: 398-403.
    • (1993) Nat Genet , vol.4 , pp. 398-403
    • Andrew, S.E.1    Goldberg, Y.P.2    Kremer, B.3    Telenius, H.4    Theilman, J.5    Adam, S.6
  • 9
    • 0029807830 scopus 로고    scopus 로고
    • Prediction of myotonic dystrophy clinical severity based on the number of intragenic (CTG)n trinucleotide repeats
    • Gennarelli M, Novelli G, Andreasi Bassi F, Martorell L, Cornet M, Menegazzo E et al. Prediction of myotonic dystrophy clinical severity based on the number of intragenic (CTG)n trinucleotide repeats. Am J Med Genet 1996; 65: 342-347.
    • (1996) Am J Med Genet , vol.65 , pp. 342-347
    • Gennarelli, M.1    Novelli, G.2    Andreasi Bassi, F.3    Martorell, L.4    Cornet, M.5    Menegazzo, E.6
  • 10
    • 0027023516 scopus 로고
    • Meiotic instability and genotype-phenotype correlation of the trinucleotide repeat in X-linked spinal and bulbar muscular atrophy
    • La Spada AR, Roling D, Harding AE, Warner CL, Spiegel R, Hausmanowa-Petrusewics I et al. Meiotic instability and genotype-phenotype correlation of the trinucleotide repeat in X-linked spinal and bulbar muscular atrophy. Nat Genet 1992; 2: 301-304.
    • (1992) Nat Genet , vol.2 , pp. 301-304
    • La Spada, A.R.1    Roling, D.2    Harding, A.E.3    Warner, C.L.4    Spiegel, R.5    Hausmanowa-Petrusewics, I.6
  • 11
    • 8944259903 scopus 로고    scopus 로고
    • Mice lacking the myotonic dystrophy protein kinase develop a late onset progressive myopathy
    • Reddy S, Smith DB, Rich MM, Leferovich JM, Reilly P, Davis BM et al. Mice lacking the myotonic dystrophy protein kinase develop a late onset progressive myopathy. Nat Genet 1996; 13: 325-335.
    • (1996) Nat Genet , vol.13 , pp. 325-335
    • Reddy, S.1    Smith, D.B.2    Rich, M.M.3    Leferovich, J.M.4    Reilly, P.5    Davis, B.M.6
  • 12
    • 0030861573 scopus 로고    scopus 로고
    • Expansion of the myotonic dystrophy CTG repeat reduces expression of the flanking DMAHP gene
    • Thornton CA, Wymer JP, Simmons Z, McClain C, Moxley III RT. Expansion of the myotonic dystrophy CTG repeat reduces expression of the flanking DMAHP gene. Nat Genet 1997; 16: 407-409.
    • (1997) Nat Genet , vol.16 , pp. 407-409
    • Thornton, C.A.1    Wymer, J.P.2    Simmons, Z.3    McClain, C.4    Moxley III, R.T.5
  • 13
    • 0029980133 scopus 로고    scopus 로고
    • Huntington disease. Another chapter rewritten
    • Nance MA. Huntington disease. Another chapter rewritten. Am J Med Genet 1996; 59: 1-6.
    • (1996) Am J Med Genet , vol.59 , pp. 1-6
    • Nance, M.A.1
  • 14
    • 0030008960 scopus 로고    scopus 로고
    • Fragil X "gray zone" alleles: AGG patterns, expansion risks, and associated haplotypes
    • Zhong N, Ju W, Pietrofesa J, Wang D, Dobkin C, Brown T. Fragil X "gray zone" alleles: AGG patterns, expansion risks, and associated haplotypes. Am J Med Genet 1996; 64: 261-265.
    • (1996) Am J Med Genet , vol.64 , pp. 261-265
    • Zhong, N.1    Ju, W.2    Pietrofesa, J.3    Wang, D.4    Dobkin, C.5    Brown, T.6
  • 16
    • 0027495515 scopus 로고
    • Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebelar ataxia type I
    • Cluing MY, Ranum LP, Duvick LA, Servadio A, Zoghbi HY, Orr HT. Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebelar ataxia type I. Nat Genet 1993; 5: 254-258.
    • (1993) Nat Genet , vol.5 , pp. 254-258
    • Cluing, M.Y.1    Ranum, L.P.2    Duvick, L.A.3    Servadio, A.4    Zoghbi, H.Y.5    Orr, H.T.6
  • 18
    • 0026094183 scopus 로고
    • Detection of deletions and crytic translocations in Miller-Dieker syndrome by in situ hybridazation
    • Kuwano A, Ledbetter SA, Dobyas WB, Emanuel BS, Ledbetter DH. Detection of deletions and crytic translocations in Miller-Dieker syndrome by in situ hybridazation. Am J Hum Genet 1991; 49: 407-409.
    • (1991) Am J Hum Genet , vol.49 , pp. 407-409
    • Kuwano, A.1    Ledbetter, S.A.2    Dobyas, W.B.3    Emanuel, B.S.4    Ledbetter, D.H.5
  • 19
    • 0027096318 scopus 로고
    • Predictive testing for Huntington's disease: Protocol of the UK Huntington's Prediction Consortium
    • Craufurd D, Tyler A. Predictive testing for Huntington's disease: protocol of the UK Huntington's Prediction Consortium. J Med Genet 1992; 29: 915-918.
    • (1992) J Med Genet , vol.29 , pp. 915-918
    • Craufurd, D.1    Tyler, A.2
  • 20
    • 0025301920 scopus 로고
    • Should we test children for 'adult' genetic disease?
    • Harper PS, Clarke AJ. Should we test children for 'adult' genetic disease? Lancet 1990; 335: 1.205-1.206.
    • (1990) Lancet , vol.335
    • Harper, P.S.1    Clarke, A.J.2
  • 21
    • 13144273804 scopus 로고
    • U.S. Washington, DC: Goverment Printing Office
    • President's Commission for the Study of Ethical Problems in Medicine and Biomedical and Behavioral Research. Screening and counselling for genetic conditions. U.S. Washington, DC: Goverment Printing Office, 1993.
    • (1993) Screening and Counselling for Genetic Conditions


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.