메뉴 건너뛰기




Volumn 19, Issue 3, 2011, Pages 3-4

Clinical utility gene card for: Bardet-Biedl syndrome

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BARDET BIEDL SYNDROME; DIAGNOSTIC TEST; DIFFERENTIAL DIAGNOSIS; ETHNICITY; GENE; GENE MUTATION; GENETIC ANALYSIS; GENETIC RISK; HUMAN; PRIORITY JOURNAL; SENSITIVITY AND SPECIFICITY; GENETIC SCREENING; GENETICS; PRENATAL DIAGNOSIS; RISK ASSESSMENT; RISK FACTOR;

EID: 79951812293     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2010.199     Document Type: Article
Times cited : (6)

References (11)
  • 2
    • 79951809087 scopus 로고    scopus 로고
    • Bardet-Biedl syndrome
    • Cassidy S, Allanson J (eds). 3rd edn Oxford: Wiley Liss
    • Slavotinek AM: Bardet-Biedl syndrome; in Cassidy S, Allanson J (eds): Management of Genetic Syndromes. Oxford: Wiley Liss, 2010, 3rd edn, pp 111-127.
    • (2010) Management of Genetic Syndromes , pp. 111-127
    • Slavotinek, A.M.1
  • 4
    • 84954488991 scopus 로고
    • Bardet-Biedl syndrome
    • Pagon RA, Bird TC, Dolan CR, Stephens K (eds) Seattle, WA: University of Washington, Seattle 14 July [updated 22 July 2010]
    • Waters AM, Beales PL: Bardet-Biedl syndrome; in Pagon RA, Bird TC, Dolan CR, Stephens K (eds): GeneReviews [Internet]. Seattle, WA: University of Washington, Seattle, 1993-2003 14 July [updated 22 July 2010].
    • (1993) GeneReviews [Internet]
    • Waters, A.M.1    Beales, P.L.2
  • 5
    • 0000672298 scopus 로고
    • Investigations cliniques et genetiques sur le syndrome de Bardet-Biedl en suisse
    • Ammann F: Investigations cliniques et genetiques sur le syndrome de Bardet-Biedl en suisse. J Genet Hum 1970; 18: 1-310.
    • (1970) J Genet Hum , vol.18 , pp. 1-310
    • Ammann, F.1
  • 6
    • 0033062278 scopus 로고    scopus 로고
    • New criteria for improved diagnosis of Bardet-Biedl syndrome: Results of a population survey
    • Beales PL, Elcioglu N, Woolf AS, Parker D, Flinter FA: New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey. J Med Genet 1999; 36: 437-446. (Pubitemid 29267741)
    • (1999) Journal of Medical Genetics , vol.36 , Issue.6 , pp. 437-446
    • Beales, P.L.1    Elcioglu, N.2    Woolf, A.S.3    Parker, D.4    Flinter, F.A.5
  • 7
    • 0023852163 scopus 로고
    • Bardet-Biedl and Laurence-Moon syndromes in a mixed Arab population
    • Farag TI, Teebi AS: Bardet-Biedl and Laurence-Moon syndromes in a mixed Arab population. Clin Genet 1988; 33: 78-82. (Pubitemid 18046715)
    • (1988) Clinical Genetics , vol.33 , Issue.2 , pp. 78-82
    • Farag, T.I.1    Teebi, A.S.2
  • 8
    • 0024366485 scopus 로고
    • High incidence of Bardet Biedl syndrome among the Bedouin
    • Farag TI, Teebi AS: High incidence of Bardet-Biedl syndrome among the Bedouin. Clin Genet 1989; 36: 463-464. (Pubitemid 20000901)
    • (1989) Clinical Genetics , vol.36 , Issue.6 , pp. 463-464
    • Farag, T.I.1    Teebi, A.S.2
  • 10
    • 79951811006 scopus 로고    scopus 로고
    • Bardet-Biedl Syndrome Gene Sequencing Panel, Test # 269, testing for BBS1-BBS12
    • Prevention genetics (http://www.preventiongenetics.com/), Bardet-Biedl Syndrome Gene Sequencing Panel, Test # 269, testing for BBS1-BBS12.
    • Prevention Genetics
  • 11
    • 51049118124 scopus 로고    scopus 로고
    • Bardet-Biedl syndrome: An atypical phenotype in brothers with a proven BBS1 mutation
    • Cannon PS, Clayton-Smith J, Beales PL, Lloyd IC: Bardet-Biedl syndrome: an atypical phenotype in brothers with a proven BBS1 mutation. Ophthalmic Genet 2008; 29: 128-132.
    • (2008) Ophthalmic Genet , vol.29 , pp. 128-132
    • Cannon, P.S.1    Clayton-Smith, J.2    Beales, P.L.3    Lloyd, I.C.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.