Alport Syndrome Study at University of Utah: Scientific Publications

Version of October 11, 1999

  1. GT Perkoff, FE Stephens, DA Dolowitz, FH Tyler. A clinical study of hereditary interstitial pyelonephritis. Archives of Internal Medicine 88:191-200, 1951.

  2. FE Stephens, GT Perkoff, DA Dolowitz, FH Tyler. Partially sex-linked dominant inheritance of interstitial pyelonephritis. American Journal of Human Genetics 3:303-313, 1951.

  3. GT Perkoff, CA Nugent Jr, DA Dolowitz, WH Carnes, FH Tyler. A follow-up study of hereditary chronic nephritis. Annals of Internal Medicine 102:733-746, 1958.

  4. GT Perkoff. Hereditary chronic nephritis, pages 259-274 in: Biology of Pyelonephritis, International Symposium Sponsored by Henry Ford Hospital, Detroit, Michigan. Little, Brown & Co., Boston, 1960.

  5. GT Perkoff. Hereditary chronic nephritis, Chapter 33 (pages 953-960) in: MB Strauss & LG Welt editors, Diseases of the Kidney. Little, Brown & Co., Boston, 1963.

  6. GT Perkoff. The hereditary renal diseases. New England Journal of Medicine 277:79-85 and 129-138, 1967.

  7. GT Perkoff. Renal diseases, Chapter 12 (pages 435-463) in: RM Goodman editor, Genetic Disorders of Man. Little, Brown & Co., Boston, 1970.

  8. GT Perkoff. Hereditary chronic nephritis, Chapter 37 (pages 1275-1286) in: MB Strauss & LG Welt editors, Diseases of the Kidney, Second Edition, Little, Brown & Co., Boston, 1971.

  9. CL Atkin, RL Stephen. Leakage indicator for recirculating peritoneal dialysis. U.S. Patent No. 4081372, Official Gazette of the U.S. Patent and Trademark Office, March 28, 1978. (To Baxter-Travenol Labs.).

  10. WM O'Neill Jr, CL Atkin, HA Bloomer. Hereditary nephritis: a re-examination of its clinical and genetic features. Annals of Internal Medicine 88:176-182, 1978.

  11. WM O'Neill Jr, CL Atkin. Letters. Annals of Internal Medicine 88:176-182, 1978.

  12. JG Eichwald. Hearing in a Utah kindred with Alport's syndrome. M.A. dissertation, University of Utah, 1978.

  13. WM O'Neill Jr, RP Mennemeyer, HA Bloomer, CL Atkin. Early pathologic features of hereditary nephritis: a clinicopathologic correlation. Pathology Research and Practice 168:146-162, 1980.

  14. RL Stephen, C Kablitz, D van Dura, CL Atkin, SC Jacobsen. Iodine composition and method for prevention and treatment of dialysis induced peritonitis. U.S. Patent No. 4235230. Official Gazette of the U.S. Patent Office, November 25, 1980.

  15. FJ Chiu, CL Atkin. Catabolites of the third component of complement in urines of hereditary nephritis patients. Journal of Biological Chemistry 258:7200-7207, 1983.

  16. SJ Hasstedt, CL Atkin. X-Linked inheritance of Alport syndrome: family P revisited. American Journal of Human Genetics 35:1241-1251, 1983.

  17. FJ Chiu, CL Atkin. Polypeptide fragments of the third component of complement in urine of hereditary nephritis patients. Journal of Immunology 134:4057-4061, 1985.

  18. SJ Hasstedt, CL Atkin, AC San Juan Jr. Genetic heterogeneity among kindreds with Alport syndrome. American Journal of Human Genetics 38:940-953, 1986.

  19. CL Atkin, MC Gregory, WA Border. Alport syndrome, Chapter 19 (pages 617-641) in: RW Schrier & CW Gottschalk editors, Diseases of the Kidney, Fourth Edition, Little, Brown & Co., Boston, 1988.

  20. CL Atkin, SJ Hasstedt, L Menlove, L Cannon, N Kirschner, C Schwartz, K Nguyen, M Skolnick. Mapping of Alport syndrome to the long arm of the X chromosome. American Journal of Human Genetics 42:249-255, 1988.

  21. MC Gregory, WA Border, CL Atkin. Hereditary nephropathies, Chapter 118 (pages 791-793) in: WN Kelley editor, Textbook of Internal Medicine. Lippincott, Philadelphia, 1989.

  22. CE Kashtan, CL Atkin, MC Gregory, AF Michael. Identification of variant Alport phenotypes using an Alport-specific antibody probe. Kidney International 36:669-674, 1989.

  23. DF Barker, SL Hostikka, J Zhou, LT Chow, AR Oliphant, SC Gerken, MC Gregory, MH Skolnick, CL Atkin, K Tryggvason. Identification of mutations in the COL4A5 collagen gene in Alport syndrome. Science 248:1224-1227, 1990.

  24. DC Wester. A Clinical Study of Auditory Phenotypes in X-Linked Alport Syndrome Using Routine and Ultra-High Frequency Audiometry. PhD Dissertation, University of Utah, Salt Lake City, UT, 1990.

  25. J Zhou, DF Barker, SL Hostikka, MC Gregory, CL Atkin, K Tryggvason. Single base mutation in 5(IV) collagen chain gene converting a conserved cysteine to serine in Alport syndrome. Genomics 9: 10-18, 1991.

  26. DF Barker, PR Fain, DE Goldgar, JN Dietz-Band, AE Turco, CE Kashtan, MC Gregory, K Tryggvason, MH Skolnick, CL Atkin. High-density genetic and physical mapping of DNA markers near the X-linked Alport syndrome locus: definition and use of flanking polymorphic markers. Human Genetics 88:189-194, 1991.

  27. MC Gregory, CL Atkin. Hereditary nephropathies, Chapter 118 (pages 736-738) in: WN Kelley editor, Textbook of Internal Medicine, 2nd edition, Lippincott, Philadelphia, 1992.

  28. DF Barker, J Cleverly, PR Fain. Two CA-dinucleotide polymorphisms at the COL4A5 (Alport syndrome) gene in Xq22. Nucleic Acids Research 20:929, 1992.

  29. MC Gregory. Alport's syndrome and related hereditary nephritides. Pages 143-156 in VE Andreucci & LG Fine editors, International Yearbook of Nephrology, 1992.

  30. MC Gregory, CL Atkin. Alport syndrome, Chapter 19 (pages 571-591) in: RW Schrier & CW Gottschalk editors, Diseases of the Kidney, Fifth Edition, Little, Brown & Co., Boston, 1993.

  31. J Zhou, MC Gregory, JM Hertz, DF Barker, C Atkin, ES Spencer, K Tryggvason. Mutations in the codon for a conserved arginine-1563 in the COL4A5 gene in Alport syndrome. Kidney International 43:722-729, March 1993.

  32. MC Gregory, CL Atkin, DF Barker. Hearing loss. New England Journal of Medicine 330(10):714-715, 1994. Comments on JB Nadol Jr. Hearing loss. New England Journal of Medicine 329(15):1092-1102, 1993.

  33. MC Gregory. Alport's syndrome and related disorders, pages 211-212 in: A Greenberg editor, A Primer of Nephrology. National Kidney Foundation, 1994.

  34. DC Wester, CL Atkin, MC Gregory. Alport syndrome: clinical update. Journal of the American Academy of Audiology 6(1):73-79, January 1995.

  35. MC Gregory, DA Terreros, DF Barker, PR Fain, JC Denison, CL Atkin. Alport syndrome -- clinical phenotypes, incidence, and pathology, pages 1-28 in: K Tryggvason editor, Molecular Pathology and Genetics of Alport Syndrome. Contributions to Nephrology (Contrib. Nephrol. Basel), Volume 117, S. Karger AG, Basel, 1996. NLM Call No. WJ 353 M718 1996.

  36. DF Barker, CL Atkin, MC Gregory, PR Fain. Application of linked markers for genetic diagnosis of Alport syndrome, pages 29-45 in: K Tryggvason editor, Molecular Pathology and Genetics of Alport Syndrome. Contributions to Nephrology (Contrib. Nephrol. Basel), Volume 117, S. Karger AG, Basel, 1996. NLM Call No. WJ 353 M718 1996.

  37. N Heiskari, X Zhang, J Zhou, A Leinonen, D Barker, M Gregory, CL Atkin, KO Netzer, M Weber, S Reeders, C Grönhagen-Riska, HPH Neumann, R Trembath, K Tryggvason. Identification of 17 mutations in ten exons in the COL4A5  collagen gene, but no mutations found in four exons in COL4A6 : a study of 250 patients with hematuria and suspected of having Alport syndrome. Journal of the American Society of Nephrology 7(5):702-709, May 1996.

  38. DF Barker, CJ Pruchno, X Jiang, CL Atkin, EM Stone, JC Denison, PR Fain, MC Gregory. A mutation causing Alport syndrome with tardive hearing loss is common in the western United States. American Journal of Human Genetics 58(6):1157-1165, June 1996.

  39. MC Gregory, CL Atkin. Alport's Syndrome, Fabry's Disease, and Nail-Patella Syndrome, chapter 19 (pages 561-590) in RW Schrier & CW Gottschalk editors, Diseases of the Kidney, Sixth Edition, Lippincott Williams & Wilkins Publishers, 1996. NLM Call No. WJ 300 D611 1996, ISBN 0-316-77456-1.

  40. MC Gregory, CL Atkin. Hereditary nephropathies, pages 1018-1020 (Chapter 157) in WN Kelley editor, Textbook of Internal Medicine, 3rd edition, Lippincott, Philadelphia, 1997. NLM Call No. WB 115 T355 1997.

  41. MC Gregory. Alport's syndrome, pages107-108 in P O'Kane editor, Rapid Access Guide to Internal Medicine, Companion to Kelley's Textbook of Internal Medicine, Lippincott-Raven, Philadelphia, 1997.

  42. MC Gregory. Alport's syndrome and related disorders, pages318-323 in A Greenberg editor, A Primer of Nephrology, 2nd ed, National Kidney Foundation, 1997.

  43. DF Barker, JC Denison, CL Atkin, MC Gregory. Common ancestry of three Ashkenazi-American families with Alport Syndrome and COL4A5 R1677Q. Human Genetics 99:681-684, May 1997. This paper may be seen online and downloaded in pdf format.

  44. S Sasaki, B Zhou, WW Fan, Y Kim, DF Barker, JC Denison, CL Atkin, MC Gregory, J Zhou, Y Segal, Y Sado, Y Ninomiya, AF Michael, CE Kashtan. Expression of mRNA for type IV collagen 1, 5 and 6 chains by cultured dermal fibroblasts from patients with X-linked Alport syndrome. Matrix Biology 17(4):279-291, August 1998.

  45. P Martin, N Heiskari, J Zhou, A Leinonen, T Tumelius, JM Hertz, D Barker, M Gregory, C Atkin, U Styrkarsdottir, H Neumann, J Springate, T Shows, E Pettersson, K Tryggvason. High mutation detection rate in the COL4A5 collagen gene in suspected Alport syndrome using PCR and direct DNA sequencing. Journal of the American Society of Nephrology 9(12):2291-2301, December 1998.