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. 1993 Jun;30(6):449–451. doi: 10.1136/jmg.30.6.449

Low segregation ratios in autosomal recessive disorders.

S Bundey, I D Young
PMCID: PMC1016413  PMID: 8179645

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Brookfield J. F., Pollitt R. J., Young I. D. Family size limitation: a method for demonstrating recessive inheritance. J Med Genet. 1988 Mar;25(3):181–185. doi: 10.1136/jmg.25.3.181. [DOI] [PMC free article] [PubMed] [Google Scholar]
  2. Gardner J. M., Nakatsu Y., Gondo Y., Lee S., Lyon M. F., King R. A., Brilliant M. H. The mouse pink-eyed dilution gene: association with human Prader-Willi and Angelman syndromes. Science. 1992 Aug 21;257(5073):1121–1124. doi: 10.1126/science.257.5073.1121. [DOI] [PubMed] [Google Scholar]
  3. Godfrey M., Keene D. R., Blank E., Hori H., Sakai L. Y., Sherwin L. A., Hollister D. W. Type II achondrogenesis-hypochondrogenesis: morphologic and immunohistopathologic studies. Am J Hum Genet. 1988 Dec;43(6):894–903. [PMC free article] [PubMed] [Google Scholar]
  4. Kausch K., Müller C. R., Grimm T., Ricker K., Rietschel M., Rudnik-Schöneborn S., Zerres K. No evidence for linkage of autosomal dominant proximal spinal muscular atrophies to chromosome 5q markers. Hum Genet. 1991 Jan;86(3):317–318. doi: 10.1007/BF00202419. [DOI] [PubMed] [Google Scholar]
  5. Mäkitie O. Cartilage-hair hypoplasia in Finland: epidemiological and genetic aspects of 107 patients. J Med Genet. 1992 Sep;29(9):652–655. doi: 10.1136/jmg.29.9.652. [DOI] [PMC free article] [PubMed] [Google Scholar]
  6. Pearn J., Bundley S., Carter C. O., Wilson J., Gardner-Medwin D., Walton J. N. A genetic study of subacute and chronic spinal muscular atrophy in childhood. A nosological analysis of 124 index patients. J Neurol Sci. 1978 Jul;37(3):227–248. doi: 10.1016/0022-510x(78)90206-x. [DOI] [PubMed] [Google Scholar]
  7. Prockop D. J., Constantinou C. D., Dombrowski K. E., Hojima Y., Kadler K. E., Kuivaniemi H., Tromp G., Vogel B. E. Type I procollagen: the gene-protein system that harbors most of the mutations causing osteogenesis imperfecta and probably more common heritable disorders of connective tissue. Am J Med Genet. 1989 Sep;34(1):60–67. doi: 10.1002/ajmg.1320340112. [DOI] [PubMed] [Google Scholar]
  8. Rinchik E. M., Bultman S. J., Horsthemke B., Lee S. T., Strunk K. M., Spritz R. A., Avidano K. M., Jong M. T., Nicholls R. D. A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism. Nature. 1993 Jan 7;361(6407):72–76. doi: 10.1038/361072a0. [DOI] [PubMed] [Google Scholar]
  9. Rosenfeld P. J., Cowley G. S., McGee T. L., Sandberg M. A., Berson E. L., Dryja T. P. A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa. Nat Genet. 1992 Jun;1(3):209–213. doi: 10.1038/ng0692-209. [DOI] [PubMed] [Google Scholar]
  10. Thompson E. M., Young I. D., Hall C. M., Pembrey M. E. Recurrence risks and prognosis in severe sporadic osteogenesis imperfecta. J Med Genet. 1987 Jul;24(7):390–405. doi: 10.1136/jmg.24.7.390. [DOI] [PMC free article] [PubMed] [Google Scholar]
  11. Woods C. G., Bundey S. E., Taylor A. M. Unusual features in the inheritance of ataxia telangiectasia. Hum Genet. 1990 May;84(6):555–562. doi: 10.1007/BF00210809. [DOI] [PubMed] [Google Scholar]
  12. Woods C. G., Edwards J. H. The need for care in the use of linkage analysis for genetic diagnosis in small families, with particular reference to uniparental disomy. Am J Hum Genet. 1992 Nov;51(5):1171–1172. [PMC free article] [PubMed] [Google Scholar]

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