메뉴 건너뛰기




Volumn 55, Issue 1, 1999, Pages 2-9

Genetic heterogeneity of Bardet-Biedl syndrome in a distinct Canadian population: Evidence for a fifth locus

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BARDET BIEDL SYNDROME; CANADA; CLINICAL ARTICLE; CLINICAL FEATURE; FAMILY STUDY; FEMALE; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENE LOCUS; GENETIC HETEROGENEITY; HAPLOTYPE; HUMAN; HYPOGONADISM; KIDNEY DISEASE; MALE; PEDIGREE; PRIORITY JOURNAL; RETINA DYSTROPHY; TERATOLOGY;

EID: 0032963190     PISSN: 08887543     EISSN: None     Source Type: Journal    
DOI: 10.1006/geno.1998.5626     Document Type: Article
Times cited : (57)

References (28)
  • 6
    • 0001539825 scopus 로고
    • Ein geschwisterpaar mit adiposo genitaler dystrophie
    • Biedl A. Ein geschwisterpaar mit adiposo genitaler dystrophie. Dtsch. Med. Wochenschr. 48:1922;1630.
    • (1922) Dtsch. Med. Wochenschr. , vol.48 , pp. 1630
    • Biedl, A.1
  • 10
    • 0024366485 scopus 로고
    • High incidence of Bardet-Biedl syndrome among the Bedouin
    • Farag T. I., Teebi A. S. High incidence of Bardet-Biedl syndrome among the Bedouin. Clin. Genet. 36:1989;463-465.
    • (1989) Clin. Genet. , vol.36 , pp. 463-465
    • Farag, T.I.1    Teebi, A.S.2
  • 11
    • 0004119413 scopus 로고
    • Philadelphia: Lea & Febiger. p. 1287,1517
    • Gray H. Anatomy of the Human Body. 1985;Lea & Febiger, Philadelphia. p. 1287,1517.
    • (1985) Anatomy of the Human Body
    • Gray, H.1
  • 14
    • 0014605392 scopus 로고
    • The syndrome of Lawrence-Moon-Bardet-Biedl and allied diseases in Switzerland
    • Klein D., Ammann F. The syndrome of Lawrence-Moon-Bardet-Biedl and allied diseases in Switzerland. J. Neurol. Sci. 9:1969;479-513.
    • (1969) J. Neurol. Sci. , vol.9 , pp. 479-513
    • Klein, D.1    Ammann, F.2
  • 16
    • 0023239442 scopus 로고
    • Homozygosity mapping: A way to map human recessive traits with the DNA of inbred children
    • Lander E., Botstein D. Homozygosity mapping: A way to map human recessive traits with the DNA of inbred children. Science. 236:1987;1567-1570.
    • (1987) Science , vol.236 , pp. 1567-1570
    • Lander, E.1    Botstein, D.2
  • 17
    • 0021344005 scopus 로고
    • Easy calculations of LOD scores and genetic risks on small computers
    • Lathrop G. M., Lalouel J. M. Easy calculations of LOD scores and genetic risks on small computers. Am. J. Hum. Genet. 36:1984;460-465.
    • (1984) Am. J. Hum. Genet. , vol.36 , pp. 460-465
    • Lathrop, G.M.1    Lalouel, J.M.2
  • 18
    • 0028128537 scopus 로고
    • Bardet-Biedl syndrome is linked to DNA markers on chromosome 11q and is genetically heterogeneous
    • Leppert M., Baird L., Anderson K. L., Otterud B., Lupski J. R., Lewis R. A. Bardet-Biedl syndrome is linked to DNA markers on chromosome 11q and is genetically heterogeneous. Nat. Genet. 7:1994;108-112.
    • (1994) Nat. Genet. , vol.7 , pp. 108-112
    • Leppert, M.1    Baird, L.2    Anderson, K.L.3    Otterud, B.4    Lupski, J.R.5    Lewis, R.A.6
  • 19
    • 0027183463 scopus 로고
    • Shadow bands seen when typing polymorphic dinucleotide repeats - Some causes and cures
    • Litt M., Hauge X., Sharma V. Shadow bands seen when typing polymorphic dinucleotide repeats - Some causes and cures. BioTechniques. 15:1993;280-284.
    • (1993) BioTechniques , vol.15 , pp. 280-284
    • Litt, M.1    Hauge, X.2    Sharma, V.3
  • 20
  • 21
    • 0024284028 scopus 로고
    • A simple salting out procedure for extracting DNA from human nucleated cells
    • Miller S. A., Dykes D. D., Polesky H. F. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 16:1988.
    • (1988) Nucleic Acids Res. , vol.16
    • Miller, S.A.1    Dykes, D.D.2    Polesky, H.F.3
  • 25
    • 0020057211 scopus 로고
    • Bardet-Biedl syndrome and related disorders
    • Schachat A. P., Maumenee I. H. Bardet-Biedl syndrome and related disorders. Arch. Ophthalmol. 100:1982;285-288.
    • (1982) Arch. Ophthalmol. , vol.100 , pp. 285-288
    • Schachat, A.P.1    Maumenee, I.H.2
  • 28
    • 0031855921 scopus 로고    scopus 로고
    • A Canadian Bardet-Biedl syndrome family reduces the critical region of BBS3 (3p) and presents with a variable phenotype
    • Young T.-L., Woods M. O., Parfrey P. S., Green J. S., O'Leary E., Hefferton D., Davidson W. S. A Canadian Bardet-Biedl syndrome family reduces the critical region of BBS3 (3p) and presents with a variable phenotype. Am. J. Med. Genet. 78:1998;461-467.
    • (1998) Am. J. Med. Genet. , vol.78 , pp. 461-467
    • Young, T.-L.1    Woods, M.O.2    Parfrey, P.S.3    Green, J.S.4    O'Leary, E.5    Hefferton, D.6    Davidson, W.S.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.