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Volumn 20, Issue 5, 2009, Pages 343-350

Genetic counseling and genetic testing in ophthalmology

Author keywords

Eye; Genetic counseling; Genetic testing; Pedigree analysis; Psychosocial

Indexed keywords

AUTOSOMAL DOMINANT INHERITANCE; BLINDNESS; DIAGNOSTIC TEST; EYE DISEASE; GENE MUTATION; GENETIC COUNSELING; GENETIC DISORDER; HUMAN; INFORMED CONSENT; OPHTHALMOLOGY; PEDIGREE; PRIORITY JOURNAL; RETINOBLASTOMA; REVIEW; SOCIAL PSYCHOLOGY; X CHROMOSOMAL INHERITANCE;

EID: 69749092231     PISSN: 10408738     EISSN: None     Source Type: Journal    
DOI: 10.1097/ICU.0b013e32832f7f0d     Document Type: Review
Times cited : (17)

References (40)
  • 3
    • 0020070894 scopus 로고
    • Assessment of clinical variables and counseling needs in patients with retinitis pigmentosa
    • Boughman JA, Caldwell RJ. Assessment of clinical variables and counseling needs in patients with retinitis pigmentosa. Am J Med Genet 1982; 12:185-193.
    • (1982) Am J Med Genet , vol.12 , pp. 185-193
    • Boughman, J.A.1    Caldwell, R.J.2
  • 4
    • 62549165132 scopus 로고    scopus 로고
    • Professional ambivalence: Accounts of ethical practice in childhood genetic testing
    • Arribas-Ayllon M, Sarangi S, Clarke A. Professional ambivalence: accounts of ethical practice in childhood genetic testing. J Genet Couns 2009; 18:173-184.
    • (2009) J Genet Couns , vol.18 , pp. 173-184
    • Arribas-Ayllon, M.1    Sarangi, S.2    Clarke, A.3
  • 5
    • 33749849388 scopus 로고    scopus 로고
    • Working up policy: The use of specific disease exemplars in formulating general principles governing childhood genetic testing
    • DOI 10.1007/s10728-006-0007-7
    • Boddington P, Hogben S. Working up policy: the use of specific disease exemplars in formulating general principles governing childhood genetic testing. Healthcare Anal 2006; 14:1-13. (Pubitemid 44560851)
    • (2006) Health Care Analysis , vol.14 , Issue.1 , pp. 1-13
    • Boddington, P.1    Hogben, S.2
  • 6
    • 39449116878 scopus 로고    scopus 로고
    • The micropolitics of responsibility vis-a-vis autonomy: Parental accounts of childhood genetic testing and (non) disclosure
    • Arribas-Ayllon M, Sarangi S, Clarke A. The micropolitics of responsibility vis-a-vis autonomy: parental accounts of childhood genetic testing and (non) disclosure. Sociol Health Illn 2008; 30:255-271.
    • (2008) Sociol Health Illn , vol.30 , pp. 255-271
    • Arribas-Ayllon, M.1    Sarangi, S.2    Clarke, A.3
  • 7
    • 33749473075 scopus 로고    scopus 로고
    • Presymptomatic and predictive genetic testing in minors: A systematic review of guidelines and position papers
    • DOI 10.1111/j.1399-0004.2006.00692.x
    • Borry P, Stultiens L, Nys H, et al. Presymptomatic and predictive genetic testing in minors: a systematic review of guidelines and position papers. Clin Genet 2006; 70:374-381. (Pubitemid 44515636)
    • (2006) Clinical Genetics , vol.70 , Issue.5 , pp. 374-381
    • Borry, P.1    Stultiens, L.2    Nys, H.3    Cassiman, J.-J.4    Dierickx, K.5
  • 8
    • 31344443014 scopus 로고    scopus 로고
    • Carrier testing in minors: A systematic review of guidelines and position papers
    • DOI 10.1038/sj.ejhg.5201509, PII 5201509
    • Borry P, Fryns JP, Schotsmans P, Dierickx K. Carrier testing in minors: a systematic review of guidelines and position papers. 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
  • 9
    • 23244443377 scopus 로고    scopus 로고
    • Policy recommendations for carrier testing and predictive testing in childhood: A distinction that makes a real difference
    • DOI 10.1007/s10897-005-4840-x
    • Hogben S, Boddington P. Policy recommendations for carrier testing and predictive testing in childhood: a distinction that makes a real difference. J Genet Couns 2005; 14:271-281. (Pubitemid 41095421)
    • (2005) Journal of Genetic Counseling , vol.14 , Issue.4 , pp. 271-281
    • Hogben, S.1    Boddington, P.2
  • 10
    • 34147097300 scopus 로고    scopus 로고
    • Retinitis pigmentosa
    • Hamel C. Retinitis pigmentosa. Orphanet J Rare Dis 2006; 1:40.
    • (2006) Orphanet J Rare Dis , vol.1 , pp. 40
    • Hamel, C.1
  • 17
    • 0020169842 scopus 로고
    • Wishes of patients with retinitis pigmentosa concerning genetic counselling
    • Bundey S, Crews SJ. Wishes of patients with retinitis pigmentosa concerning genetic counselling. J Med Genet 1982; 19:317-318.
    • (1982) J Med Genet , vol.19 , pp. 317-318
    • Bundey, S.1    Crews, S.J.2
  • 18
    • 34848828516 scopus 로고    scopus 로고
    • Qualitative research methodology in the exploration of patients' perceptions of participating in a genetic research program
    • DOI 10.1080/13816810701356627, PII 782465215
    • Basson F, Futter MJ, Greenberg J. Qualitative research methodology in the exploration of patients' perceptions of participating in a genetic research program. Ophthalmic Genet 2007; 28:143-149. (Pubitemid 47493764)
    • (2007) Ophthalmic Genetics , vol.28 , Issue.3 , pp. 143-149
    • Basson, F.1    Futter, M.J.2    Greenberg, J.3
  • 19
    • 34548189307 scopus 로고    scopus 로고
    • Assessing oral literacy demand in genetic counseling dialogue: Preliminary test of a conceptual framework
    • DOI 10.1016/j.socscimed.2007.05.033, PII S0277953607003164
    • Roter DL, Erby LH, Larson S, Ellington L. Assessing oral literacy demand in genetic counseling dialogue: preliminary test of a conceptual framework. Soc Sci Med 2007; 65:1442-1457. (Pubitemid 47314425)
    • (2007) Social Science and Medicine , vol.65 , Issue.7 , pp. 1442-1457
    • Roter, D.L.1    Erby, L.H.2    Larson, S.3    Ellington, L.4
  • 20
    • 0028923465 scopus 로고
    • Recommendations for standardized human pedigree nomenclature
    • Pedigree Standardization Task Force of the National Society of Genetic Counselors.
    • Bennett RL, Steinhaus KA, Uhrich SB, et al. Recommendations for standardized human pedigree nomenclature. Pedigree Standardization Task Force of the National Society of Genetic Counselors. AmJ Hum Genet 1995; 56:745-752.
    • (1995) AmJ Hum Genet , vol.56 , pp. 745-752
    • Bennett, R.L.1    Steinhaus, K.A.2    Uhrich, S.B.3
  • 21
    • 53949106969 scopus 로고    scopus 로고
    • Standardized human pedigree nomenclature: Update and assessment of the recommendations of the National Society of Genetic Counselors
    • A review of the standard pedigree symbols with suggestions on how to ensure that medical pedigrees abide by current privacy restrictions.
    • Bennett RL, French KS, Resta RG, Doyle DL. Standardized human pedigree nomenclature: update and assessment of the recommendations of the National Society of Genetic Counselors. J Genet Couns 2008; 17:424-433. A review of the standard pedigree symbols with suggestions on how to ensure that medical pedigrees abide by current privacy restrictions.
    • (2008) J Genet Couns , vol.17 , pp. 424-433
    • Bennett, R.L.1    French, K.S.2    Resta, R.G.3    Doyle, D.L.4
  • 25
    • 37549046444 scopus 로고    scopus 로고
    • Genetics of hereditary vitreoretinal degenerations
    • Pachydaki SI, Young LH. Genetics of hereditary vitreoretinal degenerations. Semin Ophthalmol 2007; 22:219-227.
    • (2007) Semin Ophthalmol , vol.22 , pp. 219-227
    • Pachydaki, S.I.1    Young, L.H.2
  • 28
    • 0016017772 scopus 로고
    • Pedigree analysis to determine the mode of inheritance in a family with retinitis pigmentosa
    • Spence MA, Elston RC, Cederbaum SD. Pedigree analysis to determine the mode of inheritance in a family with retinitis pigmentosa. Clin Genet 1974; 5:338-343.
    • (1974) Clin Genet , vol.5 , pp. 338-343
    • Spence, M.A.1    Elston, R.C.2    Cederbaum, S.D.3
  • 29
    • 33749537467 scopus 로고    scopus 로고
    • Albinism in Africa as a public health issue
    • DOI 10.1186/1471-2458-6-212
    • Hong ES, Zeeb H, Repacholi MH. Albinism in Africa as a public health issue. BMC Public Health 2006; 6:212. (Pubitemid 44525051)
    • (2006) BMC Public Health , vol.6 , pp. 212
    • Hong, E.S.1    Zeeb, H.2    Repacholi, M.H.3
  • 31
    • 38349186412 scopus 로고    scopus 로고
    • Mothers' explanations of communicating past health and future risks to survivors of childhood cancer
    • Survivors' mothers often do not discuss the details of future health risks associated with retinoblastoma with their children when they have grown up unless they are specifically asked. This study highlights the need to educate survivors of retinoblastoma.
    • Clarke SA, Sheppard L, Eiser C. Mothers' explanations of communicating past health and future risks to survivors of childhood cancer. Clin Child Psychol Psychiatry 2008; 13:157-170. Survivors' mothers often do not discuss the details of future health risks associated with retinoblastoma with their children when they have grown up unless they are specifically asked. This study highlights the need to educate survivors of retinoblastoma.
    • (2008) Clin Child Psychol Psychiatry , vol.13 , pp. 157-170
    • Clarke, S.A.1    Sheppard, L.2    Eiser, C.3
  • 32
    • 36349012399 scopus 로고    scopus 로고
    • Attitudes regarding carrier testing in incompetent children: A survey of European clinical geneticists
    • DOI 10.1038/sj.ejhg.5201909, PII 5201909
    • Borry P, Goffin T, Nys H, Dierickx K. Attitudes regarding carrier testing in incompetent children: a survey of European clinical geneticists. Eur J Hum Genet 2007; 15:1211-1217. (Pubitemid 350143177)
    • (2007) European Journal of Human Genetics , vol.15 , Issue.12 , pp. 1211-1217
    • Borry, P.1    Goffin, T.2    Nys, H.3    Dierickx, K.4
  • 34
    • 41149138131 scopus 로고    scopus 로고
    • Detection of mosaic retinal dysfunction in choroideremia carriers electroretinographic and psychophysical testing
    • Vajaranant TS, Fishman GA, Szlyk JP, et al. Detection of mosaic retinal dysfunction in choroideremia carriers electroretinographic and psychophysical testing. Ophthalmology 2008; 115:723-729.
    • (2008) Ophthalmology , vol.115 , pp. 723-729
    • Vajaranant, T.S.1    Fishman, G.A.2    Szlyk, J.P.3
  • 36
    • 0029814661 scopus 로고    scopus 로고
    • Cost comparison of molecular versus conventional screening of relatives at risk for retinoblastoma
    • Noorani HZ, Khan HN, Gallie BL, Detsky AS. Cost comparison of molecular versus conventional screening of relatives at risk for retinoblastoma. Am J Hum Genet 1996; 59:301-307.
    • (1996) Am J Hum Genet , vol.59 , pp. 301-307
    • Noorani, H.Z.1    Khan, H.N.2    Gallie, B.L.3    Detsky, A.S.4
  • 38
    • 43049147169 scopus 로고    scopus 로고
    • Genetic analysis of chromosome 11p13 and the PAX6 gene in a series of 125 cases referred with aniridia
    • Robinson DO, Howarth RJ, Williamson KA, et al. Genetic analysis of chromosome 11p13 and the PAX6 gene in a series of 125 cases referred with aniridia. Am J Med Genet A 2008; 146A:558-569.
    • (2008) Am J Med Genet a , vol.146 A , pp. 558-569
    • Robinson, D.O.1    Howarth, R.J.2    Williamson, K.A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.