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R. Goldman, G. Haberfelde (1959)
Hereditary Nephritis: Report of a KindredThe New England Journal of Medicine, 261
R. Shaw, R. Glover (1961)
Abnormal Segregation in Hereditary Renal Disease with Deafness.American journal of human genetics, 13 1 Pt 1
Sohar E (1956)
Renal disease, inner ear deafness, and ocular changesArch Intern Med, 97
R. Goldbloom, F. Fraser, Douglas Waugh, M. Aronovitch, F. Wiglesworth (1957)
Hereditary renal disease associated with nerve deafness and ocular lesions.Pediatrics, 20 2
J. Hobday, G. Jones (1969)
HEREDITARY NEPHRITIS WITH DEAFNESSMedical Journal of Australia, 2
G. Perkoff, C. Nugent, D. Dolowitz, F. Stephens, W. Carnes, F. Tyler (1958)
A follow-up study of hereditary chronic nephritis.A.M.A. archives of internal medicine, 102 5
E. Sohar (1956)
Renal disease, inner ear deafness, and ocular changes; a new heredofamilial syndrome.A.M.A. archives of internal medicine, 97 5
I. Schafer, C. Scriver, M. Efron (1962)
Familial hyperprolinemia, cerebral dysfunction and renal anomalies occurring in a family with hereditary nephropathy and deafness.The New England journal of medicine, 267
Thompson MW Thompson JS (1966)
Genetics in Medicine
J. Graham (1959)
Hereditary chronic kidney disease: an alternative to partial sex-linkage in the Utah kindred.American journal of human genetics, 11
L. Guthrie (1902)
" IDIOPATHIC," OR CONGENITAL, HEREDITARY AND FAMILY HÆMATURIA.The Lancet, 159
Alport AC (1927)
Hereditary familial congential haemorrhagic nephritisBrit Med J, 1
G. Spear, J. Whitworth, B. Konigsmark (1970)
Hereditary nephritis with nerve deafness. Immunofluorescent studies on the kidney, with a consideration of discordant immunoglobulin-complement immunofluorescent reactions.The American journal of medicine, 49 1
J. Northway (1971)
Hematuria in children.The Journal of pediatrics, 78 3
A. Chiricosta, S. Jindal, J. Metuzals, B. Koch (1970)
Hereditary nephropathy with hematuria (Alport's syndrome).Canadian Medical Association journal, 102 4
M. Cohen, G. Cassady, B. Hanna (1961)
A genetic study of hereditary renal dysfunction with associated nerve deafness.American journal of human genetics, 13
R. Whalen, S. Huang, E. Peschel, H. McINTOSH (1961)
Hereditary nephropathy, deafness and renal foam cells.The American journal of medicine, 31
D. Kaufman, Rawle Intosh, F. Smith, R. Vernier (1970)
Diffuse familial nephropathy: a clinicopathological study.The Journal of pediatrics, 77 1
Nugent CA Jr Perkoff GT (1958)
A follow-up study of hereditary chronic nephritisArch Intern Med, 102
T. Antonovych, P Deasy, L. Tina, J. D'Albora, C Hollerman, P. Calcagno (1969)
Hereditary Nephritis: Early Clinical, Functional, and Morphological StudiesPediatric Research, 3
Royer P (1968)
Nephrology, 2
Fraser FC Preus M (1971)
Genetics of Alport's disease, in Proceedings of the 16th Annual Meeting, Genetics Society of Canada, Quebec City, Canada, June 10-11, 1971Canad J Genet Cytol, 13
C. Scriver, M. Efron, I. Schafer (1964)
RENAL TUBULAR TRANSPORT OF PROLINE, HYDROXYPROLINE, AND GLYCINE IN HEALTH AND IN FAMILIAL HYPERPROLINEMIA.The Journal of clinical investigation, 43
Crosnier J Hamburger J (1956)
Sur un syndrome familial de néphropathie avec surditéJ Urol Med Chir, 62
Abstract The clinical, pathological, and genetic features of Alport's syndrome are presented and discussed with reference to seven families previously unreported. The commonly described features of hematuria, nerve deafness, progressive renal failure, and early death were observed. A close correlation of clinical and renal pathological changes was discovered. Evidence suggests that the primary lesion is glomerular, probably in the basement membrane, with progressive renal changes ensuing. Inheritance is most likely autosomal dominant with variable penetrance and expressivity. Implications in clinical pediatrics and genetic counseling are stressed. References 1. Guthrie LG: "Idiopathic", or congenital, hereditary and family haematuria . Lancet 1:1243, 1902.Crossref 2. Alport AC: Hereditary familial congential haemorrhagic nephritis . Brit Med J 1:504-506, 1927.Crossref 3. Sohar E: Renal disease, inner ear deafness, and ocular changes . Arch Intern Med 97:627-630, 1956.Crossref 4. Hamburger J, Crosnier J, Lissac J, et al: Sur un syndrome familial de néphropathie avec surdité . J Urol Med Chir 62:113-124, 1956. 5. Naffah J: Sur un syndrome familial de néphropathie avec surdité, thesis. Paris, 1956. 6. Royer P: Familial nephropathy with deafness , in Hamburger J (ed): Nephrology . Philadelphia, WB Saunders Co, 1968, vol 2, pp 803-810. 7. Thompson JS, Thompson MW: Genetics in Medicine . Philadelphia, WB Saunders Co, 1966. 8. Schafer IA, Scriver CR, Efron ML: Familial hyperprolinemia, cerebral dysfunction and renal anomalies occurring in a family with hereditary nephropathy and deafness . New Eng J Med 267:51-60, 1962.Crossref 9. Scriver CR, Efron ML, Schafer IA: Renal tubular transport of proline, hydroxy-proline, and glycine in health and in familial hyperprolinemia . J Clin Invest 43:374-385, 1964.Crossref 10. Northway JD: Hematuria in children . J Pediat 78:381-396, 1971.Crossref 11. Goldman R, Haberfelde GC: Hereditary nephritis: Report of a kindred . New Eng J Med 261:734-738, 1959.Crossref 12. Hobday JD, Jones GDT: Hereditary nephritis with deafness . Med J Aust 2:1140-1143, 1969. 13. Kaufman DB, McIntosh RM, Smith FG Jr, et al: Diffuse familial nephropathy: A clinicopathological study . J Pediat 77:37-47, 1970.Crossref 14. Spears GS, Whitworth JM, Konigsmark BW: Hereditary nephritis with nerve deafness: Immunofluorescent studies on the kidney, with a consideration of discordant immunoglobulincomplement immunofluorescent reactions . Amer J Med 49:52-63, 1970.Crossref 15. Chiricosta A, Jindal SL, Metuzals J, et al: Hereditary nephropathy with hematuria (Alport's syndrome) . Canad Med Assoc J 102:396-401, 1970. 16. Antonovych TT, Deasy PF, Tina LU, et al: Hereditary nephritis: Early clinical, functional, and morphological studies . Pediat Res 3:545-556, 1969.Crossref 17. Goldbloom RB, Fraser FC, Waugh D, et al: Hereditary renal disease associated with nerve deafness and ocular lesions . Pediatrics 20:241-252, 1957. 18. Whalen RE, Huang S, Peschel E, et al: Hereditary nephropathy, deafness and renal foam cells . Amer J Med 31:171-186, 1961.Crossref 19. Cohen MM, Cassady G, Hanna BL: A genetic study of hereditary renal dysfunction with associated nerve deafness . Amer J Hum Genet 13:379-389, 1961. 20. Preus M, Fraser FC: Genetics of Alport's disease, in Proceedings of the 16th Annual Meeting, Genetics Society of Canada, Quebec City, Canada, June 10-11, 1971 , abstracted. Canad J Genet Cytol 13:642, 1971. 21. Perkoff GT, Nugent CA Jr, Dolowitz DA, et al: A follow-up study of hereditary chronic nephritis . Arch Intern Med 102:733-746, 1958.Crossref 22. Graham JB: Hereditary chronic kidney disease: An alternative to partial sex-linkage in the Utah kindred . Amer J Hum Genet 11:333-338, 1959. 23. Shaw RF, Glover RA: Abnormal segregation in hereditary renal disease with deafness . Amer J Hum Genet 13:89-97, 1961.
American Journal of Diseases of Children – American Medical Association
Published: Jul 1, 1972
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