Alport Syndrome Study at University of Utah:
Speeches and Conference Abstracts

1. RL Stephen, GC Leroy, A Maldonado, C Atkin, D van Dura, WJ Kolff. Recirculating peritoneal dialysis with a subcutaneous peritoneal catheter. Eighth Annual Meeting of the American Society of Nephrology, Abstracts, 39, Washington, DC, November 25-26, 1975.

2. WM O'Neill, CL Atkin, HA Bloomer. Correlation of clinical and genetic information in hereditary nephritis. Ninth Annual Meeting of the American Society of Nephrology. Abstracts, 21, Washington, DC, November 21-23, 1976.

3. CL Atkin, WM O'Neill Jr, TR Lloyd, HA Bloomer. A unique urinary protein in Alport's syndrome. Eleventh Annual Meeting of the American Society of Nephrology, Abstracts, 102A, New Orleans, November 19-21, 1978.

4. DP Duffy, CL Atkin, JT Wu, HA Bloomer. Beta 2 microglobulinuria in hereditary nephritis. Clinical Research 28, 62A, 1980.

5. TR Lloyd, CL Atkin, WM O'Neill Jr, HA Bloomer. The urine protein specific to hereditary nephritis is a breakdown product of complement component C3. Clinical Research 28, 63A, 1980.

6. CL Atkin. Biochemical and clinical studies of hereditary nephritis. ESRD Network #5 Coordinating Council, Denver, Colorado. December 1980.

7. E Palomaki, DE Jeffery, CL Atkin. Karyotypic investigations of Alport syndrome. Encyclia 58, 160, 1981.

8. CL Atkin. Alport syndrome. Dean's Research Conference, Snowbird, Utah, October, 1983.

9. L Menlove, J Aldridge, C Schwartz, C Atkin, S Hasstedt, L Kunkel, G Bruns, S Latt, M Skolnick. Linkage between Alport syndrome-like hereditary nephritis and X-linked RFLPS. American Journal of Human Genetics 36, 146S, 1984.

10. L Menlove, N Kirschner, K Nguyen, T Morrison, J Aldridge, C Schwartz, C Atkin, S Hasstedt, L Kunkel, G Bruns, S Latt, M Skolnick. Linkage between Alport syndrome-like hereditary nephritides and X-linked RFLPs. Human Gene Mapping 8, Cytogenetics and Cell Genetics 40, 697-698, 1985.

11. CL Atkin. Genetic heterogeneity of Alport syndrome. Symposium on Hereditary Nephropathy, American Society of Pediatric Nephrology, Washington, DC. May 2, 1988.

12. J Dietz-Band, A Turco, H Willard, D Goldgar, J-L Mandel, C Atkin, M Skolnick, D Barker. Characterization and physical localization of 37 RFLPs for the X chromosome and linkage of two markers to the gene for X-linked Alport syndrome. American Journal of Human Genetics 43(3):A142 (abstract 0566) 1988.

13. DF Barker, JN Dietz-Band, DE Goldgar, KN Nguyen, AE Turco, CW Donaldson, HF Willard, MH Skolnick, CL Atkin. Mapping of the gene for Alport syndrome (ASLN) within a physically and genetically mapped cluster of X RFLP markers (A2019). Human Gene Mapping 10, Cytogenetics and Cell Genetics 51(1-4):957, 1989.

14. DF Barker, JN Dietz-Band, DE Goldgar, K Nguyen, AE Turco, CW Donaldson, HF Willard, MH Skolnick, CL Atkin. Mapping the gene for Alport syndrome (ASLN) within a physically and genetically mapped cluster of X RFLP markers. P. 20 in C. Cantor, M. Olson, and R. Roberts (eds), Abstracts of papers presented at the April 26-30, 1989, meeting on GENOME MAPPING AND SEQUENCING, Cold Spring Harbor Laboratory, Cold Spring Harbor, New York, 1989.

15. DF Barker, D Goldgar, JN Dietz-Band, K Nguyen, AE Turco, CW Donaldson, HF Willard, MH Skolnick, CL Atkin. Genetic mapping of Alport syndrome (ASLN) with physically and genetically ordered X RFLPs (0671). American Journal of Human Genetics 45 (4 Suppl., Program and Abstracts Volume Fortieth Annual Meeting of the American Society of Human Genetics, Baltimore, Maryland, November 11-15):A172, 1989.

16. M Gregory, C Atkin, D Goldgar, D Barker, M Skolnick. Allelism of Alport syndrome (AS) types III and IV. American Society of Nephrology Twenty-second Annual Meeting, 12/3-6/89, Washington, DC, p. 60A.

17. DF Barker, AR Oliphant, PR Fain, DE Goldgar, JN Dietz-Band, SC Gerken, AE Turco, MC Gregory, MH Skolnick, CL Atkin, LT Chow, SL Hostikka, J Zhou, K Tryggvason. [Abstract 3.1] Genetic basis for Alport syndrome: disease mapping and identification of COL4A5 mutations. Fifth International Symposium on Basement Membranes, Oulu, Finland, August 8-10, 1990.

18. J Zhou, SL Hostikka, DF Barker, LT Chow, MC Gregory, CL Atkin, K Tryggvason. [Abstract 3.11] Cloning of the human a5(IV) collagen gene and characterization of mutations in Alport syndrome. Fifth International Symposium on Basement Membranes, Oulu, Finland, August 8-10, 1990.

19. CL Atkin. Alport syndrome. Fifth International Symposium on Basement Membranes, Oulu, Finland. August 8-10, 1990.

20. MC Gregory, D Barker, D Terreros, C Atkin, K Tryggvason. Potential misdiagnosis of female Alport gene-carriers. Journal of the American Society of Nephrology 1:299, 1990.

21. MC Gregory, J Zhou, D Barker, SL Hostikka, D Wester, A Oliphant, C Atkin, K Tryggvason. Phenotypic heterogeneity resulting from different mutations in the COL4A5 collagen gene in Alport syndrome. Journal of the American Society of Nephrology 1:299, 1990.

22. J Zhou, SL Hostikka, DF Barker, LT Chow, SC Gerken, CL Atkin, K Tryggvason. Cloning of the a5(IV) collagen gene and characterization of mutations in Alport syndrome (0329). American Journal of Human Genetics 47:A85, 1990.

23. DF Barker, AR Oliphant, PR Fain, DE Goldgar, JN Dietz-Band, AE Turco, MC Gregory, MH Skolnick, CL Atkin, LT Chow, SL Hostikka, J Zhou, K Tryggvason. Refined genetic and physical mapping of the Alport syndrome locus and identification of mutations in the COL4A5 gene (0812). American Journal of Human Genetics 47:A207, 1990.

24. DC Wester, CL Atkin, MC Gregory. A clinical study of auditory phenotypes in X-linked Alport syndrome using routine and ultra-high frequency audiometry. Third Annual Convention, American Academy of Audiology, Denver, Colorado. April 25-28, 1991. Audiology Today 3 (2):43, March/April 1991.

25. DF Barker, PR Fain, DE Goldgar, J Dietz-Band, AE Turco, MH Skolnick, CE Kashtan, MC Gregory, K Tryggvason, CL Atkin. Characterization of markers near and within COL4A5 and their use in studying heterogeneity of Alport syndrome. International Workshop on Alport Syndrome, Oulu, Finland. August 23-24, 1991.

26. CL Atkin. Multiple phenotypes of X-linked and of autosomal dominant nephritides. International Workshop on Alport Syndrome, Oulu, Finland. August 23-24, 1991.

27. CL Atkin. Molecular genetics of Alport syndrome. Symposium "Molecular Genetics in Nephrology," Canadian Society of Nephrology, Québec City, Canada. September 20, 1991.

28. MC Gregory, PN Fain, C Donaldson, DF Barker, CL Atkin. Small-kindred linkage analysis reveals genetic heterogeneity in Alport syndrome (AS). American Society of Nephrology Twenty-fourth Annual Meeting, November 17-20, 1991. Journal of the American Society of Nephrology 2:253, 1991.

29. MC Gregory, B Skinner, CL Atkin, DF Barker. A novel mutation in COL4A5 relates three families with type IV Alport syndrome. American Society of Nephrology Twenty-fourth Annual Meeting, November 17-20, 1991. Journal of the American Society of Nephrology 2:254, 1991.

30. MC Gregory, D Terreros, CE Kashtan, L Ptacek, K Tryggvason, DF Barker, CL Atkin. Ultrastructural and immunologic evidence of Alport syndrome (AS) in a kindred with Charcot-Marie-Tooth disease (CMT). American Society of Nephrology Twenty-fifth Annual Meeting, November 17-20, 1991. Journal of the American Society of Nephrology 2:254, 1991.

31. MC Gregory, D Terreeros, CE Kashtan, CL Atkin, DF Barker. Multiclonal anti-GBM antibodies and Goodpasture syndrome after transplantation in Alport syndrome. American Society of Nephrology Twenty-fifth Annual Meeting, November 15-18, 1992, Washington, DC. Journal of the American Society of Nephrology 3:296, 1992.

32. MC Gregory, D Terreros, CE Kashtan, CL Atkin, DF Barker. Multiclonal anti-GBM antibodies and Goodpasture syndrome after transplantation in Alport syndrome. American Society of Nephrology Twenty-fifth Annual Meeting, November 15-18, 1992. Journal of the American Society of Nephrology 3:269, 1992.

33. DF Barker, CL Atkin, MC Gregory, PR Fain. Application of linked markers for genetic diagnosis of Alport syndrome. Second International Workshop on Alport Syndrome, Yale University, New Haven, Connecticut, February 26-27, 1993.

34. MC Gregory, DF Barker, CE Kashtan, ST Reeders, M Picken, PR Fain, CL Atkin. Autosomal dominant families. Second International Workshop on Alport Syndrome, Yale University, New Haven, Connecticut, February 26-27, 1993.

35. MC Gregory, CL Atkin, DF Barker, PR Fain. Clinical data collection. Second International Workshop on Alport Syndrome, Yale University, New Haven, Connecticut, February 26-27, 1993.

36. N Saarinen, J Zhou, A Leinonen, D Barker, M Gregory, C Atkin, K Netzer, M Weber, S Reeders, JM Herz, T Shows, J Springate, C Grönhagen-Riska, K Tryggvason. Identification of 17 small mutations in the COL4A5 gene in Alport syndrome. Journal of the American Society of Nephrology 4:822, 1993.

37. N Saarinen, J Zhou, A Leinonen, D Barker, M Gregory, C Atkin, K Netzer, M Weber, S Reeders, JM Herz, T Shows, J Springate, C Grönhagen-Riska, H Neumann, R Trembath, K Tryggvason. Large-scale mutation search on Alport syndrome. Third International Workshop on Alport Syndrome, Erlangen-Nürnberg, Germany, September 11-14, 1994.

38. Fourth International Workshop on Alport Syndrome, held April 15-17, 1999, in Salt Lake City, Utah, USA

    • Patient, Family, and Friends Day, April 15
        * CL Atkin, History of Alport studies in Utah.
        * DF Barker, Introduction to genetics of Alport syndrome.
        * JC Denison, Unraveling family histories.
        * DF Barker, Molecular genetics of Alport syndrome..
        * LM Nelson. Prenatal and preimplantation diagnosis.
        * MC Gregory. Treatment of kidney disease in Alport syndrome.
        * MD Page. Treatment of hearing loss in Alport syndrome.
      

    • Scientific Sessions, April 16-17
        * MC Gregory. COL4A5 Genotype-Phenotype Correlations in the Utah Series.
        * LM Nelson. Molecular Diagnostic Testing for X-linked Alport Syndrome: The Utah Experience.
        * MC Gregory. Diagnostic Traps in Genetic Diagnosis.