Skip to main content
PMC home page
American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1978 Mar;30(2):105–122.

The William Allan Memorial Award Lecture: Genetic nosology: three approaches.

V A McKusick
PMCID: PMC1685553  PMID: 418674

Full text

PDF
109

Selected References

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

  1. Boyer S. H., Graham J. B. Linkage Between the X Chromosome Loci for Glucose-6-Phosphate Dehydrogenase Electrophoretic Variation and Hemophilia A. Am J Hum Genet. 1965 Jul;17(4):320–324. [PMC free article] [PubMed] [Google Scholar]
  2. Caspersson T., Lomakka G., Zech L. The 24 fluorescence patterns of the human metaphase chromosomes - distinguishing characters and variability. Hereditas. 1972;67(1):89–102. doi: 10.1111/j.1601-5223.1971.tb02363.x. [DOI] [PubMed] [Google Scholar]
  3. Chase G. A., McKusick V. A. Controversy in human genetics: founder effect in Tay-Sachs disease. Am J Hum Genet. 1972 May;24(3):339–340. [PMC free article] [PubMed] [Google Scholar]
  4. DICKIE M. M. The expanding knowledge of the genome of the mouse. J Natl Cancer Inst. 1954 Dec;15(3):679–684. [PubMed] [Google Scholar]
  5. Danes B. S., Bearn A. G. Hurler's syndrome: demonstration of an inherited disorder of connective tissue in cell culture. Science. 1965 Aug 27;149(3687):987–989. doi: 10.1126/science.149.3687.987. [DOI] [PubMed] [Google Scholar]
  6. Donahue R. P., Bias W. B., Renwick J. H., McKusick V. A. Probable assignment of the Duffy blood group locus to chromosome 1 in man. Proc Natl Acad Sci U S A. 1968 Nov;61(3):949–955. doi: 10.1073/pnas.61.3.949. [DOI] [PMC free article] [PubMed] [Google Scholar]
  7. Epinette W. W., Norins A. L., Drew A. L., Zeman W., Patel V. Angiokeratoma corporis diffusum with alpha-L-fucosidase deficiency. Arch Dermatol. 1973 May;107(5):754–757. [PubMed] [Google Scholar]
  8. Fraikor A. L. Tay-Sachs disease: genetic drift among the Ashkenazim Jews. Soc Biol. 1977 Summer;24(2):117–134. doi: 10.1080/19485565.1977.9988272. [DOI] [PubMed] [Google Scholar]
  9. HERS H. G. INBORN LYSOSOMAL DISEASES. Gastroenterology. 1965 May;48:625–633. [PubMed] [Google Scholar]
  10. MARMUR J., SCHILDKRAUT C. L. Growth of bacteria labelled with heavy isotopes for the isolation of nucleic acids. Nature. 1961 Feb 25;189:636–638. doi: 10.1038/189636a0. [DOI] [PubMed] [Google Scholar]
  11. MCKUSICK V. A., BAUER R. L., KOOP C. E., SCOTT R. B. HYDROMETROCOLPOS AS A SIMPLY INHERITED MALFORMATION. JAMA. 1964 Sep 14;189:813–816. doi: 10.1001/jama.1964.03070110015003. [DOI] [PubMed] [Google Scholar]
  12. MCKUSICK V. A., EGELAND J. A., ELDRIDGE R., KRUSEN D. E. DWARFISM IN THE AMISH I. THE ELLIS-VAN CREVELD SYNDROME. Bull Johns Hopkins Hosp. 1964 Oct;115:306–336. [PubMed] [Google Scholar]
  13. MCKUSICK V. A., ELDRIDGE R., HOSTETLER J. A., RUANGWIT U., EGELAND J. A. DWARFISM IN THE AMISH. II. CARTILAGE-HAIR HYPOPLASIA. Bull Johns Hopkins Hosp. 1965 May;116:285–326. [PubMed] [Google Scholar]
  14. MOHR J. A search for linkage between the Lutheran blood group and other hereditary characters. Acta Pathol Microbiol Scand. 1951;28(2):207–210. doi: 10.1111/j.1699-0463.1951.tb03688.x. [DOI] [PubMed] [Google Scholar]
  15. McKusick V. A. Editorial notes: Molecular defects in collagen. Ann Intern Med. 1975 Apr;82(4):585–586. doi: 10.7326/0003-4819-82-4-585. [DOI] [PubMed] [Google Scholar]
  16. McKusick V. A. Phenotypic diversity of human diseases resulting from allelic series. Am J Hum Genet. 1973 Jul;25(4):446–456. [PMC free article] [PubMed] [Google Scholar]
  17. McKusick V. A., Ruddle F. H. The status of the gene map of the human chromosomes. Science. 1977 Apr 22;196(4288):390–405. doi: 10.1126/science.850784. [DOI] [PubMed] [Google Scholar]
  18. McKusick V. A., Weilbaecher R. G., Gragg G. W. Recessive inheritance of a congenital malformation syndrome: unilateral absence deformity of leg and congenital cataracts. JAMA. 1968 Apr 8;204(2):113–118. [PubMed] [Google Scholar]
  19. Nevanlinna H. R. The Finnish population structure. A genetic and genealogical study. Hereditas. 1972;71(2):195–236. doi: 10.1111/j.1601-5223.1972.tb01021.x. [DOI] [PubMed] [Google Scholar]
  20. Norio R., Nevanlinna H. R., Perheentupa J. Hereditary diseases in Finland; rare flora in rare soul. Ann Clin Res. 1973 Jun;5(3):109–141. [PubMed] [Google Scholar]
  21. O'Brien J. S. Molecular genetics of GM1 beta-galactosidase. Clin Genet. 1975 Nov;8(5):303–313. [PubMed] [Google Scholar]
  22. O'Brien J. S., Norden A. G. Nature of the mutation in adult beta-galactosidase deficient patients. Am J Hum Genet. 1977 Mar;29(2):184–190. [PMC free article] [PubMed] [Google Scholar]
  23. PORTER I. H., SCHULZE J., MCKUSICK V. A. Genetical linkage between the loci for glucose-6-phosphate dehydrogenase deficiency and colour-blindness in American Negroes. Ann Hum Genet. 1962 Nov;26:107–122. doi: 10.1111/j.1469-1809.1962.tb01316.x. [DOI] [PubMed] [Google Scholar]
  24. Pinsky L. A community of human malformation syndromes involving the Müllerian ducts, distal extremities, urinary tract, and ears. Teratology. 1974 Feb;9(1):65–79. doi: 10.1002/tera.1420090109. [DOI] [PubMed] [Google Scholar]
  25. Pinsky L. The community of human malformation syndromes that shares ectodermal dysplasia and deformities of the hands and feet. Teratology. 1975 Jun;11(3):227–242. doi: 10.1002/tera.1420110302. [DOI] [PubMed] [Google Scholar]
  26. Rao D. C., Morton N. E. Large deviations in the distribution of rare genes. Am J Hum Genet. 1973 Nov;25(6):594–597. [PMC free article] [PubMed] [Google Scholar]
  27. Ricciuti F., Ruddle F. H. Assignment of nucleoside phosphorylase to D-14 and localization of X-linked loci in man by somatic cell genetics. Nat New Biol. 1973 Feb 7;241(110):180–182. doi: 10.1038/newbio241180a0. [DOI] [PubMed] [Google Scholar]
  28. Stewart R. E., Hollister D. W., Rimoin D. L. A new variant of Ehlers-Danlos syndrome: an autosomal dominant disorder of fragile skin, abnormal scarring, and generalized periodontitis. Birth Defects Orig Artic Ser. 1977;13(3B):85–93. [PubMed] [Google Scholar]
  29. Weiss M. C., Green H. Human-mouse hybrid cell lines containing partial complements of human chromosomes and functioning human genes. Proc Natl Acad Sci U S A. 1967 Sep;58(3):1104–1111. doi: 10.1073/pnas.58.3.1104. [DOI] [PMC free article] [PubMed] [Google Scholar]

Articles from American Journal of Human Genetics are provided here courtesy of American Society of Human Genetics

RESOURCES