Identification of a bardet-biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping

Human Molecular Genetics

Volumn 3, Issue 8, 1994, Pages 1331-1335

  Sheffield, Val C ^a   Carml, Rivka ^b,c   Kwltek black, Anne ^a   Rokhlina, Tatiana ^a   Nishlmura, Darryl ^a   Duyk, Geoffrey M ^d   Elbedour, Khalil ^c   Sunden, Sara L ^a   Stone, Edwin M ^e  

^a Departments of 1Pediatrics ^*  (Israel)

^b Division of Pediatrics   (Israel)

^c BEN GURION UNIVERSITY OF THE NEGEV   (Israel)

^d HARVARD UNIVERSITY   (United States)

^e UNIVERSITY OF IOWA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BARDET BIEDL SYNDROME; CHROMOSOME 3; DNA SEQUENCE; FAMILY STUDY; GENE; GENE FREQUENCY; GENE LOCUS; GENE MAPPING; HOMOZYGOSITY; HUMAN; HYPOGONADISM; MENTAL DEFICIENCY; OBESITY; POLYDACTYLY; PRIORITY JOURNAL; RETINITIS PIGMENTOSA;

CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 3; DNA; EVALUATION STUDIES; FEMALE; HOMOZYGOTE; HUMAN; INFANT; LAURENCE-MOON SYNDROME; LINKAGE (GENETICS); MALE; PEDIGREE; SUPPORT, NON-U.S. GOV'T; SUPPORT, U.S. GOV'T, P.H.S.;

EID: 0028000502     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/3.8.1331     Document Type: Article

References (36)

1. McKusick, V.A. Mendelian Inheritance in Man. (1992) Johns Hopkins University Press, Baltimore.
2. Bardet, G. (1920) Univ de Paris. Thesis no. 470.
3. Biedl, A. (1922) Dtsch Med Wochenschr 48:1630.
4. Green, J.S. era/. (1989) N Engl J Med 321:1002-1009.
5. Schachat, A.P. and Maumenee, I.H. (1982) Arch Ophthalmol 100:285-288.
6. Ammann, F. (1970) J Hum Genet 18:l-310.
7. Kwitek-Black, A.E., Carmi, R., Duyk, G.M., Buetow, K.H., Elbedour, K., Parvari, R. Yandava, C.N., Stone, E.M. and Sheffield, V.C. (1993) Nature Genet 5:392—396.
8. Leppert, M., Baird, L., Anderson, K.L., Otterud, B., Lupski, J.R. and Lewis, R.A. (1994) Nature Genet 6:108-112.
9. Farag, T.I. and Teebi, A.S. (1988) Clin Genet 33:78-82.
10. Farag, T.I. and Teebi, A.S. (1989) Clin Genet 36:463-465.
11. Laurence, J.Z. and Moon, R.C. (1866) Ophthal Rev 2:32-41.
12. Biemond, A. (1934) Ned Tijdschr, Geneeskd 78:1801-1809.
13. Alstrom, C.H. et al. (1959) Acta Psychiatr Neurol Scand 129:l—35.
14. Weber, J.L. and May, P.M. (1989) Am J Hum Genet 44:388-396.
15. Weissenbach, J., Gyapay, G., Dib, C. Vignal, A., Morissette, J., Millasseau, P., Vaysseiz, G. and Lathrop, M. (1992) Nature 359:794—801.
16. Blanton, S.H. et al. (1992) Genomics 11:857-869.
17. Ingleheam, C.F. et al. (1993) Nature Genet 4:51-53.
18. Jordan, S.A. et al. (1993) Nature Genet 4:54—58.
19. Kimberling, W.J. et al. (1990) Genomics 7:245—249.
20. Smith, R.J.H. et al. (1992) Genomics 14:995-1002.
21. Kimberling, W.J. et al. (1992) Genomics 14:988-994.
22. Kaplan, J. et al. (1992) Genomics 14:979-987.
23. Sung, C-H. et al. (1991) Proc Natl Acad Sei USA 88:6481-6484.
24. Stone, E.M. Nichols, B.E., Streb, L.M., Kimura, A.E. and Sheffield, V.C. (1992) Nature Genet 1:246-250.
25. Gal, A., Xu, S., Piczenik, Y., Eiberg, H., Duvigneau, C., Schwinger, E. and Rosenberg, T. (1994) Hum Mol Genet 3:323-326.
26. Al-Maghtheh, M., Ingleheam, C.F., Keen, TJ., Evans, K., Moore, A.T., Jay, M., Bird, A.C. and Bhattacharya, S.S. (1994) Hum Mol Genet 3:351-354.
27. Friedman, J.M., Leibei, R.L. and Bahaty, N. (1991) Mammalian Genome 1:130-144.
28. Lander, E.S. and Botstein, D. (1987) Science 236:1567-1570.
29. Pacek, P., Sajantila, A. and Syvanen, A-C. (1993) PCR Methods Applications 2:313-317.
30. Michelmone, R.W., Paran, I. and Kessel, R.V. (1991) Proc Natl Acad Sei USA 88:9828-9832.
31. Miller, S.A., Dykes, D.D. and Polesky, H.F. (1988) Nucleic Acids Res 16:1215.
32. Davis, R.W., Thomas, M., Camerson, J., St. John, Scherer, S. and Padgett, A. (1965) Methods Enzymol 65:49.
33. Bassam, B.J., Cœtano-AnoDes, G. and Gresshoff, P.M. (1991) AnalBiochem 196:80-83.
34. Nichols, B.E., Sheffield, V.C. and Stone, E.M. (1993) CABIOS9:757-759.
35. Morton, N.E. (1955) Am J Hum Genet 7:277—318.
36. Lange, K., Weeks, D.E. and Boehnke, M. (1988) Genet Epidemiol 5:471-472.