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. 1967 Sep;19(5):644–659.

Absent thumbs with a ring D2 chromosome: a new deletion syndrome.

R S Sparkes, R E Carrel, S W Wright
PMCID: PMC1706232  PMID: 6050738

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Selected References

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

  1. ADAMS M. S. PALM-PRINTS AND A RING-D CHROMOSOME. Lancet. 1965 Sep 4;2(7410):494–495. doi: 10.1016/s0140-6736(65)91453-4. [DOI] [PubMed] [Google Scholar]
  2. Atkins L., Pant S. S., Hazard G. W., Ouellette E. M. Two cases with a C-group ring autosome. Ann Hum Genet. 1966 Jul;30(1):1–6. doi: 10.1111/j.1469-1809.1966.tb00001.x. [DOI] [PubMed] [Google Scholar]
  3. BAIKIE A. G., BROWN W. M., JACOBS P. A., MILNE J. S. Chromosome studies in human leukaemia. Lancet. 1959 Sep 26;2(7100):425–428. doi: 10.1016/s0140-6736(59)90416-7. [DOI] [PubMed] [Google Scholar]
  4. BAIN A. D., GAULD I. K. Multiple congenital abnormalities associated with ring chromosome. Lancet. 1963 Aug 10;2(7302):304–305. doi: 10.1016/s0140-6736(63)90212-5. [DOI] [PubMed] [Google Scholar]
  5. BENDER M. A., GOOCH P. C. Persistent chromosome aberrations in irradiated human subjects. Radiat Res. 1962 Jan;16:44–53. [PubMed] [Google Scholar]
  6. BEUTLER E., DURON O., KELLY B. M. Improved method for the determination of blood glutathione. J Lab Clin Med. 1963 May;61:882–888. [PubMed] [Google Scholar]
  7. BUCKTON K. E., JACOBS P. A., COURT BROWN W. M., DOLL R. A study of the chromosome damage persisting after x-ray therapy for ankylosing spondylitis. Lancet. 1962 Oct 6;2(7258):676–682. doi: 10.1016/s0140-6736(62)90500-7. [DOI] [PubMed] [Google Scholar]
  8. Beutler E., Baluda M. C. Improved method for measuring galactose-I-phosphate uridyl transferase activity of erythrocytes. Clin Chim Acta. 1966 Mar;13(3):369–379. doi: 10.1016/0009-8981(66)90217-8. [DOI] [PubMed] [Google Scholar]
  9. DIGRADO F., MENDES F. T., SCHROEDER E. RING CHROMOSOME IN A CASE OF DI GUGLIELMO SYNDROME. Lancet. 1964 Dec 5;2(7371):1243–1244. doi: 10.1016/s0140-6736(64)91084-0. [DOI] [PubMed] [Google Scholar]
  10. Gerald P. S., Warner S., Singer J. D., Corcoran P. A., Umansky I. A ring D chromosome and anomalous inheritance of haptoglobin type. J Pediatr. 1967 Feb;70(2):172–179. doi: 10.1016/s0022-3476(67)80411-6. [DOI] [PubMed] [Google Scholar]
  11. Giannelli F., Howlett R. M. The identification of the chromosomes of the D group (13-15) Denver: an autoradiographic and measurement study. Cytogenetics. 1966;5(3):186–205. doi: 10.1159/000129897. [DOI] [PubMed] [Google Scholar]
  12. Hustinx T. W., Bijlsma J. B., Nijenhuis L. E. Localization of haptoglobin and ABO. Nature. 1965 Jul 17;207(994):327–328. doi: 10.1038/207327b0. [DOI] [PubMed] [Google Scholar]
  13. KOUTRAS G. A., HATTORI M., SCHNEIDER A. S., EBAUGH F. G., Jr, VALENTINE W. N. STUDIES ON CHROMATED ERYTHROCYTES. EFFECT OF SODIUM CHROMATE ON ERYTHROCYTE GLUTATHIONE REDUCTASE. J Clin Invest. 1964 Feb;43:323–331. doi: 10.1172/JCI104917. [DOI] [PMC free article] [PubMed] [Google Scholar]
  14. Puck T. T. ACTION OF RADIATION ON MAMMALIAN CELLS III. RELATIONSHIP BETWEEN REPRODUCTIVE DEATH AND INDUCTION OF CHROMOSOME ANOMALIES BY X-IRRADIATION OF EUPLOID HUMAN CELLS IN VITRO. Proc Natl Acad Sci U S A. 1958 Aug 15;44(8):772–780. doi: 10.1073/pnas.44.8.772. [DOI] [PMC free article] [PubMed] [Google Scholar]
  15. REISMAN L. E., DARNELL A., MURPHY J. W. ABNORMALITIES WITH RING CHROMOSOME. Lancet. 1965 Aug 28;2(7409):445–445. doi: 10.1016/s0140-6736(65)90802-0. [DOI] [PubMed] [Google Scholar]
  16. SANDBERG A. A., ISHIHARA T., CROSSWHITE L. H., HAUSCHKA T. S. Chromosomal dichotomy in blood and marrow of acute leukemia. Cancer Res. 1962 Jul;22:748–756. [PubMed] [Google Scholar]
  17. SCHNEIDER A. S., VALENTINE W. N., HATTORI M., HEINS H. L., Jr HEREDITARY HEMOLYTIC ANEMIA WITH TRIOSEPHOSPHATE ISOMERASE DEFICIENCY. N Engl J Med. 1965 Feb 4;272:229–235. doi: 10.1056/NEJM196502042720503. [DOI] [PubMed] [Google Scholar]
  18. Schwartz D. On the Stabilization of a Ring Chromosome in Maize. Genetics. 1958 Jan;43(1):86–91. doi: 10.1093/genetics/43.1.86. [DOI] [PMC free article] [PubMed] [Google Scholar]
  19. Shaw K. N., Lieberman E., Koch R., Donnell G. N. Cystathioninuria. Am J Dis Child. 1967 Jan;113(1):119–128. doi: 10.1001/archpedi.1967.02090160169027. [DOI] [PubMed] [Google Scholar]
  20. TOUGH I. M., BUCKTON K. E., BAIKIE A. G., COURT-BROWN W. M. X-ray-induced chromosome damage in man. Lancet. 1960 Oct 15;2(7155):849–851. doi: 10.1016/s0140-6736(60)91911-5. [DOI] [PubMed] [Google Scholar]
  21. TURNER B. CYTOGENETIC STUDIES IN MENTAL RETARDATION. Proc Aust Assoc Neurol. 1963 May;72:41–42. [PubMed] [Google Scholar]
  22. VALENTINE W. N., BECK W. S. Biochemical studies on leucocytes. I. Phosphatase activity in health, leucocytosis, and myelocytic leucemia. J Lab Clin Med. 1951 Jul;38(1):39–55. [PubMed] [Google Scholar]
  23. VALENTINE W. N., TANAKA K. R. The glyoxalase content of human erythrocytes and leukocytes. Acta Haematol. 1961;26:303–316. doi: 10.1159/000206665. [DOI] [PubMed] [Google Scholar]
  24. Valentine W. N., Oski F. A., Paglia D. E., Baughan M. A., Schneider A. S., Naiman J. L. Hereditary hemolytic anemia with hexokinase deficiency. Role of hexokinase in erythrocyte aging. N Engl J Med. 1967 Jan 5;276(1):1–11. doi: 10.1056/NEJM196701052760101. [DOI] [PubMed] [Google Scholar]
  25. WANG H. C., MELNYK J., McDONALD L. T., UCHIDA I. A., CARR D. H., GOLDBERG B. Ring chromosomes in human beings. Nature. 1962 Aug 18;195:733–734. doi: 10.1038/195733a0. [DOI] [PubMed] [Google Scholar]
  26. Yunis J. J., Hook E. B. Deoxyribonucleic acid replication and mapping of the D-1 chromosome. A study of two patients with partial trisomy D-1. Am J Dis Child. 1966 Jan;111(1):83–89. doi: 10.1001/archpedi.1966.02090040119017. [DOI] [PubMed] [Google Scholar]

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