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. 1957 Jun;9(2):98–116.

The Laboratory Detection of Heterozygotes1

David Yi-Yung Hsia
PMCID: PMC1931845  PMID: 13444248

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Selected References

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

  1. ADLERSBERG D. Hypercholesteremia with predisposition to atherosclerosis, an inborn error of lipid metabolism. Am J Med. 1951 Nov;11(5):600–614. doi: 10.1016/0002-9343(51)90046-0. [DOI] [PubMed] [Google Scholar]
  2. ADLERSBERG D. Inborn errors of lipid metabolism; clinical, genetic, and chemical aspects. AMA Arch Pathol. 1955 Nov;60(5):481–492. [PubMed] [Google Scholar]
  3. ALDRICH R. A., STEINBERG A. G., CAMPBELL D. C. Pedigree demonstrating a sex-linked recessive condition characterized by draining ears, eczematoid dermatitis and bloody diarrhea. Pediatrics. 1954 Feb;13(2):133–139. [PubMed] [Google Scholar]
  4. ALEXANDER B., GOLDSTEIN R. Parahemophilia in three siblings (Owren's disease). Am J Med. 1952 Sep;13(3):255–272. doi: 10.1016/0002-9343(52)90281-7. [DOI] [PubMed] [Google Scholar]
  5. ANDERSON R. C., WRIGHT W. S., BAUER E. G., McQUARRIE I. Familial hypoglycemosis of probable genetic origin. Am J Hum Genet. 1950 Sep;2(3):264–268. [PMC free article] [PubMed] [Google Scholar]
  6. BARON D. N., DENT C. E., HARRIS H., HART E. W., JEPSON J. B. Hereditary pellagra-like skin rash with temporary cerebellar ataxia, constant renal amino-aciduria, and other bizarre biochemical features. Lancet. 1956 Sep 1;271(6940):421–428. doi: 10.1016/s0140-6736(56)91914-6. [DOI] [PubMed] [Google Scholar]
  7. BARRETT A. M., FAIRWEATHER D. V., MCCANCE R. A., MORRISON A. B. Genetic, clinical, biochemical, and pathological features of hypophosphatasia; based on the study of a family. Q J Med. 1956 Oct;25(100):523–537. [PubMed] [Google Scholar]
  8. BEARN A. G. Genetic and biochemical aspects of Wilson's disease. Am J Med. 1953 Oct;15(4):442–449. doi: 10.1016/0002-9343(53)90134-x. [DOI] [PubMed] [Google Scholar]
  9. BEARN A. G., KUNKEL H. G. Localization of Cu64 in serum fractions following oral administration: an alteration in Wilson's disease. Proc Soc Exp Biol Med. 1954 Jan;85(1):44–48. doi: 10.3181/00379727-85-20780. [DOI] [PubMed] [Google Scholar]
  10. BERNARD J., BOIRON M., ESTAGER J. Une grande famille hémolytique; treize cas de maladie de Minkowski-Chauffard observés dans la même fratrie. Sem Hop. 1952 Dec 14;28(92):3741–3744. [PubMed] [Google Scholar]
  11. BIGGS R., DOUGLAS A. S. The thromboplastin generation test. J Clin Pathol. 1953 Feb;6(1):23–29. doi: 10.1136/jcp.6.1.23. [DOI] [PMC free article] [PubMed] [Google Scholar]
  12. BONGIOVANNI A. M., EBERLEIN W. R., CARA J. Studies on the metabolism of adrenal steroids in the adrenogenital syndrome. J Clin Endocrinol Metab. 1954 Apr;14(4):409–422. doi: 10.1210/jcem-14-4-409. [DOI] [PubMed] [Google Scholar]
  13. BRINKHOUS K. M., LANGDELL R. D., PENICK G. D., GRAHAM J. B., WAGNER R. H. Newer approaches to the study of hemophilia and hemophilioid states. J Am Med Assoc. 1954 Feb 6;154(6):481–486. doi: 10.1001/jama.1954.02940400019005. [DOI] [PubMed] [Google Scholar]
  14. BRUTON O. C., KANTER A. J. Idiopathic familial hyperlipemia. AMA Am J Dis Child. 1951 Aug;82(2):153–159. doi: 10.1001/archpedi.1951.02040040162006. [DOI] [PubMed] [Google Scholar]
  15. CARTER C., SIMPKISS M. The carrier state in nephrogenic diabetes insipidus. Lancet. 1956 Nov 24;271(6952):1069–1073. doi: 10.1016/s0140-6736(56)90206-9. [DOI] [PubMed] [Google Scholar]
  16. CHILDS B., GRUMBACH M. M., VAN WYK J. J. Virilizing adrenal hyperplasia; a genetic and hormonal study. J Clin Invest. 1956 Feb;35(2):213–222. doi: 10.1172/JCI103266. [DOI] [PMC free article] [PubMed] [Google Scholar]
  17. COVEY J. A., COHEN J. L., PAPPS J. P. Idiopathic hypoprothrombinemia. Ann Intern Med. 1950 Aug;33(2):467–473. doi: 10.7326/0003-4819-33-2-467. [DOI] [PubMed] [Google Scholar]
  18. CRIGLER J. F., Jr, NAJJAR V. A. Congenital familial nonhemolytic jaundice with kernicterus. Pediatrics. 1952 Aug;10(2):169–180. [PubMed] [Google Scholar]
  19. DE VRIES A., MATOTH Y., SHAMIR Z. Familial congenital labile factor deficiency with syndactylism; investigation on the mode of action of the labile factor. Acta Haematol. 1951 Mar;5(3):129–142. doi: 10.1159/000203820. [DOI] [PubMed] [Google Scholar]
  20. DEBRE R., SCHAPIRA G., DREYFUS J. C., SCHAPIRA F. Métabolisme du fer chez les descendants de malades atteints de cirrhose bronzée. Bull Mem Soc Med Hop Paris. 1952 May 23;68(18-19):665–669. [PubMed] [Google Scholar]
  21. DENT C. E., HARRIS H. Hereditary forms of rickets and osteomalacia. J Bone Joint Surg Br. 1956 Feb;38-B(1):204–226. doi: 10.1302/0301-620X.38B1.204. [DOI] [PubMed] [Google Scholar]
  22. DRISCOLL K. W., HSIA D. Y. Detection of the heterozygous carriers of phenylketonuria. Lancet. 1956 Dec 29;271(6957):1337–1338. doi: 10.1016/s0140-6736(56)91489-1. [DOI] [PubMed] [Google Scholar]
  23. FAJANS S. S., CONN J. W. An approach to the prediction of diabetes mellitus by modification of the glucose tolerance test with cortisone. Diabetes. 1954 Jul-Aug;3(4):296-302; discussion, 302-4. doi: 10.2337/diab.3.4.296. [DOI] [PubMed] [Google Scholar]
  24. FINCH S. C., FINCH C. A. Idiopathic hemochromatosis, an iron storage disease. A. Iron metabolism in hemochromatosis. Medicine (Baltimore) 1955 Dec;34(4):381–430. doi: 10.1097/00005792-195512000-00001. [DOI] [PubMed] [Google Scholar]
  25. FINCH S., HASKINS D., FINCH C. A. Iron metabolism; hematopoiesis following phlebotomy; iron as a limiting factor. J Clin Invest. 1950 Aug;29(8):1078–1086. doi: 10.1172/JCI102339. [DOI] [PMC free article] [PubMed] [Google Scholar]
  26. FRASER D., YENDT E. R., CHRISTIE F. H. Metabolic abnormalities in hypophosphatasia. Lancet. 1955 Feb 5;268(6858):286–286. doi: 10.1016/s0140-6736(55)90112-4. [DOI] [PubMed] [Google Scholar]
  27. FRICK P. G., HAGEN P. S. Congenital familial deficiency of the stable prothrombin conversion factor; restudy of case originally reported as idiopathic hypoprothrombinemia. J Lab Clin Med. 1953 Aug;42(2):212–223. [PubMed] [Google Scholar]
  28. FRICK P. G., McQUARRIE I. Congenital afibrinogenemia. Pediatrics. 1954 Jan;13(1):44–58. [PubMed] [Google Scholar]
  29. GOOD R. A. Studies on agammaglobulinemia. II. Failure of plasma cell formation in the bone marrow and lymph nodes of patients with agammaglobulinemia. J Lab Clin Med. 1955 Aug;46(2):167–181. [PubMed] [Google Scholar]
  30. GRAHAM J. B., MCLENDON W. W., BRINKHOUS K. M. Mild hemophilia; allelic form of the disease. Am J Med Sci. 1953 Jan;225(1):46–53. [PubMed] [Google Scholar]
  31. HARRIS H., MITTWOCH U., ROBSON E. B., WARREN F. L. Phenotypes and genotypes in cystinuria. Ann Hum Genet. 1955 Aug;20(1):57–91. doi: 10.1111/j.1469-1809.1955.tb01278.x. [DOI] [PubMed] [Google Scholar]
  32. HERNDON C. N. Genetics of the lipidoses. Res Publ Assoc Res Nerv Ment Dis. 1954;33:239–258. [PubMed] [Google Scholar]
  33. HOLZEL A., KOMROWER G. M. A study of the genetics of galactosaemia. Arch Dis Child. 1955 Apr;30(150):155–159. doi: 10.1136/adc.30.150.155. [DOI] [PMC free article] [PubMed] [Google Scholar]
  34. ISSELBACHER K. J., ANDERSON E. P., KURAHASHI K., KALCKAR H. M. Congenital galactosemia, a single enzymatic block in galactose metabolism. Science. 1956 Apr 13;123(3198):635–636. doi: 10.1126/science.123.3198.635. [DOI] [PubMed] [Google Scholar]
  35. KAPILA C. C., KAUL S., CHATTERJEE B. C. Glycogen-storage disease of liver. Br Med J. 1956 Apr 21;1(4972):893–897. doi: 10.1136/bmj.1.4972.893. [DOI] [PMC free article] [PubMed] [Google Scholar]
  36. KENCH J. E., LANGLEY F. A., WILKINSON J. F. Biochemical and pathological studies of congenital porphyria. Q J Med. 1953 Jul;22(87):285–294. [PubMed] [Google Scholar]
  37. KINGSLEY C. S. Familial factor V deficiency: the pattern of heredity. Q J Med. 1954 Jul;23(91):323–329. [PubMed] [Google Scholar]
  38. LANGDELL R. D., WAGNER R. H., BRINKHOUS K. M. Effect of antihemophilic factor on one-stage clotting tests; a presumptive test for hemophilia and a simple one-stage antihemophilic factor assy procedure. J Lab Clin Med. 1953 Apr;41(4):637–647. [PubMed] [Google Scholar]
  39. LAWSON H. A. Congenital afibrinogenemia; report of a case. N Engl J Med. 1953 Mar 26;248(13):552–554. doi: 10.1056/NEJM195303262481306. [DOI] [PubMed] [Google Scholar]
  40. LIPTON E. L. Elliptocytosis with hemolytic anemia: the effects of splenectomy. Pediatrics. 1955 Jan;15(1):67–83. [PubMed] [Google Scholar]
  41. MARGOLIUS A., Jr, RATNOFF O. D. A laboratory study of the carrier state in classic hemophilia. J Clin Invest. 1956 Nov;35(11):1316–1323. doi: 10.1172/JCI103387. [DOI] [PMC free article] [PubMed] [Google Scholar]
  42. MERSKEY C., MACFARLANE R. G. The female carrier of haemophilia. A clinical and laboratory study. Lancet. 1951 Mar 3;1(6653):487–490. doi: 10.1016/s0140-6736(51)91970-8. [DOI] [PubMed] [Google Scholar]
  43. MOTULSKY A. G., SINGER K., CROSBY W. H., SMITH V. The life span of the elliptocyte; hereditary elliptocytosis and its relationship to other familial hemolytic diseases. Blood. 1954 Jan;9(1):57–72. [PubMed] [Google Scholar]
  44. McCANCE R. A., MORRISON A. B., DENT C. E. The excretion of phosphoethanolamine and hypophosphatasia. Lancet. 1955 Jan 15;268(6855):131–131. doi: 10.1016/s0140-6736(55)91704-9. [DOI] [PubMed] [Google Scholar]
  45. McQUARRIE I. Idiopathic spontaneously occurring hypoglycemia in infants; clinical significance of problem and treatment. AMA Am J Dis Child. 1954 Apr;87(4):399–428. [PubMed] [Google Scholar]
  46. Neel J. V. The Inheritance of Sickle Cell Anemia. Science. 1949 Jul 15;110(2846):64–66. doi: 10.1126/science.110.2846.64. [DOI] [PubMed] [Google Scholar]
  47. Neel J. V. The detection of the genetic carriers of hereditary disease. Am J Hum Genet. 1949 Sep;1(1):19–36. [PMC free article] [PubMed] [Google Scholar]
  48. OWEN C. A., Jr, COOPER T. Parahemophilia. AMA Arch Intern Med. 1955 Feb;95(2):194–201. doi: 10.1001/archinte.1955.00250080016003. [DOI] [PubMed] [Google Scholar]
  49. PAULING L., ITANO H. A. Sickle cell anemia a molecular disease. Science. 1949 Nov 25;110(2865):543–548. doi: 10.1126/science.110.2865.543. [DOI] [PubMed] [Google Scholar]
  50. Peters J. P., Man E. B. THE INTERRELATIONS OF SERUM LIPIDS IN NORMAL PERSONS. J Clin Invest. 1943 Sep;22(5):707–714. doi: 10.1172/JCI101443. [DOI] [PMC free article] [PubMed] [Google Scholar]
  51. QUICK A. J., PISCIOTTA A. V., HUSSEY C. V. Congenital hypoprothrombinemic states. AMA Arch Intern Med. 1955 Jan;95(1):2–14. doi: 10.1001/archinte.1955.00250070018002. [DOI] [PubMed] [Google Scholar]
  52. RAMOT B., ANGELOPOULOS B., SINGER K. Variable manifestations of plasma thromboplastin component deficiency. J Lab Clin Med. 1955 Jul;46(1):80–88. [PubMed] [Google Scholar]
  53. ROSENTHAL R. L., DRESKIN O. H., ROSENTHAL N. New hemophilia-like disease caused by deficiency of a third plasma thromboplastin factor. Proc Soc Exp Biol Med. 1953 Jan;82(1):171–174. doi: 10.3181/00379727-82-20057. [DOI] [PubMed] [Google Scholar]
  54. SACKS M. S., RACCUGLIA G. Hereditary deficiency of proaccelerin (parahemophilia): a family study. J Lab Clin Med. 1955 Jul;46(1):98–110. [PubMed] [Google Scholar]
  55. SCHAEFER L. E., DRACHMAN S. R., STEINBERG A. G., ADLERSBERG D. Genetic studies on hypercholesteremia: frequency in a hospital population and in families of hypercholesteremic index patients. Am Heart J. 1953 Jul;46(1):99–116. doi: 10.1016/0002-8703(53)90243-9. [DOI] [PubMed] [Google Scholar]
  56. SEEGERS W. H., ALKJAERSIG N., JOHNSON S. A. On the nature of the blood coagulation mechanisms in certain clinical states. Am J Clin Pathol. 1955 Sep;25(9):983–987. doi: 10.1093/ajcp/25.9.983. [DOI] [PubMed] [Google Scholar]
  57. SMITH C. H., SISSON T. R. C., FLOYD W. H., Jr, SIEGAL S. Serum iron and iron-binding capacity of the serum in children with severe Mediterranean (Cooley's) anemia. Pediatrics. 1950 May;5(5):799–807. [PubMed] [Google Scholar]
  58. SOBEL E. H., CLARK L. C., Jr, FOX R. P., ROBINOW M. Rickets, deficiency of alkaline phosphatase activity and premature loss of teeth in childhood. Pediatrics. 1953 Apr;11(4):309–322. [PubMed] [Google Scholar]
  59. STANBURY J. B., KASSENAAR A. A., MEIJER J. W., TERPSTRA J. The occurrence of mono- and di-iodotyrosine in the blood of a patient with congenital goiter. J Clin Endocrinol Metab. 1955 Oct;15(10):1216–1227. doi: 10.1210/jcem-15-10-1216. [DOI] [PubMed] [Google Scholar]
  60. STANBURY J. B., MEIJER J. W., KASSENAAR A. A. The metabolism of iodotyrosines. II. The metabolism of mono- and diiodotyrosine in certain patients with familial goiter. J Clin Endocrinol Metab. 1956 Jul;16(7):848–868. doi: 10.1210/jcem-16-7-848. [DOI] [PubMed] [Google Scholar]
  61. STECHER R. M., HERSH A. H., SOLOMON W. M. The heredity of gout and its relationship to familial hyperuricemia. Ann Intern Med. 1949 Oct;31(4):595–614. doi: 10.7326/0003-4819-31-4-595. [DOI] [PubMed] [Google Scholar]
  62. STEFANINI M. Activity of plasma labile factor in disease. Lancet. 1951 Mar 17;1(6655):606–610. doi: 10.1016/s0140-6736(51)91115-4. [DOI] [PubMed] [Google Scholar]
  63. STOHLMAN F., Jr, HARRINGTON W. J., MOLONEY W. C. Parahemophilia (Owren's disease); report of a case in a woman with studies on other members of her family. J Lab Clin Med. 1951 Dec;38(6):842–845. [PubMed] [Google Scholar]
  64. STURGEON P., ITANO H. A., BERGREN W. R. Genetic and biochemical studies of intermediate types of Cooley's anaemia. Br J Haematol. 1955 Jul;1(3):264–277. doi: 10.1111/j.1365-2141.1955.tb05509.x. [DOI] [PubMed] [Google Scholar]
  65. Silvestroni E., Bianco I. Microcytemia, constitutional microcytic anemia, and Cooley's anemia. Am J Hum Genet. 1949 Sep;1(1):83–93. [PMC free article] [PubMed] [Google Scholar]
  66. Smyth C. J., Cotterman C. W., Freyberg R. H. THE GENETICS OF GOUT AND HYPERURICEMIA-AN ANALYSIS OF NINETEEN FAMILIES. J Clin Invest. 1948 Nov;27(6):749–759. doi: 10.1172/JCI102025. [DOI] [PMC free article] [PubMed] [Google Scholar]
  67. Stecher R. M., Hersh A. H. Note on the Genetics of Hypercholesterolemia. Science. 1949 Jan 21;109(2821):61–62. doi: 10.1126/science.109.2821.61-a. [DOI] [PubMed] [Google Scholar]
  68. TURPIN R., JEROME H., SCHMITT H. Study of variations of the coeruloplasmin by an easy technique. Proc R Soc Med. 1953 Dec;46(12):1061–1062. [PMC free article] [PubMed] [Google Scholar]
  69. UDENFRIEND S., COOPER J. R. Assay of L-phenylalanine as phenylethylamine after enzymatic decarboxylation; application to isotopic studies. J Biol Chem. 1953 Aug;203(2):953–960. [PubMed] [Google Scholar]
  70. UZMAN L. L., HOOD B. The familial nature of the amino-aciduria of Wilson's disease (hepatolenticular degeneration). Am J Med Sci. 1952 Apr;223(4):392–400. doi: 10.1097/00000441-195204000-00006. [DOI] [PubMed] [Google Scholar]
  71. WALKER N. F., RANCE C. P. Inheritance of nephrogenic diabetes insipidus. Am J Hum Genet. 1954 Sep;6(3):354–358. [PMC free article] [PubMed] [Google Scholar]
  72. WEST J. R., KRAMER J. G. Nephrogenic diabetes insipidus. Pediatrics. 1955 Apr;15(4):424–432. [PubMed] [Google Scholar]
  73. YOUNG L. E. Hereditary spherocytosis. Am J Med. 1955 Mar;18(3):486–497. doi: 10.1016/0002-9343(55)90229-1. [DOI] [PubMed] [Google Scholar]
  74. YOUNG L. E., IZZO M. J., PLATZER R. F. Hereditary spherocytosis. I. Clinical, hematologic and genetic features in 28 cases, with particular reference to the osmotic and mechanical fragility of incubated erythrocytes. Blood. 1951 Nov;6(11):1073–1098. [PubMed] [Google Scholar]

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