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4. Electro-rentinal abnormalities in heterozygotes of renal-retinal dysplasia. Hogewind BL; Veltkamp JJ; Polak BC; van Es LA Acta Med Scand; 1977; 202(4):323-6. PubMed ID: 920253 [TBL] [Abstract][Full Text] [Related]
5. Nephronophthisis-medullary cystic kidney disease complex: a report on 24 patients from 5 families with Italian ancestry. Scolari F; Valzorio B; Vizzardi V; Carli O; Costantino E; Viola F; Prati E; Maiorca R Contrib Nephrol; 1997; 122():61-3. PubMed ID: 9399041 [No Abstract] [Full Text] [Related]
6. Cystic disease of the renal medulla associated with retinitis pigmentosa and imino acid abnormalities. Bennett WM; Simon NM; Krill AE; Weinstein RF; Carone FA Clin Nephrol; 1975 Jul; 4(1):25-31. PubMed ID: 1157347 [TBL] [Abstract][Full Text] [Related]
7. Evolution of clinical signs in adult-onset cystic disease of the renal medulla. Gardner KD Ann Intern Med; 1971 Jan; 74(1):47-54. PubMed ID: 5539277 [No Abstract] [Full Text] [Related]
9. Hereditary disorders of the kidney. I. Parenchymal defects and malformations. Bernstein J; Kissane JM Perspect Pediatr Pathol; 1973; 1():117-46. PubMed ID: 4596310 [No Abstract] [Full Text] [Related]
10. Hereditary renal disease,retinitis pigmentosa and other anomalies. Asmal AC S Afr Med J; 1969 Aug; 43(33):1033-6. PubMed ID: 5822933 [No Abstract] [Full Text] [Related]
11. Novel mutations in NPHP4 in a consanguineous family with histological findings of focal segmental glomerulosclerosis. Mistry K; Ireland JH; Ng RC; Henderson JM; Pollak MR Am J Kidney Dis; 2007 Nov; 50(5):855-64. PubMed ID: 17954299 [TBL] [Abstract][Full Text] [Related]
12. Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis. Konrad M; Saunier S; Heidet L; Silbermann F; Benessy F; Calado J; Le Paslier D; Broyer M; Gubler MC; Antignac C Hum Mol Genet; 1996 Mar; 5(3):367-71. PubMed ID: 8852662 [TBL] [Abstract][Full Text] [Related]
13. [Juvenile nephronophthisis with tapetoretinal degeneration, skeletal changes and special phenotypic traits]. Castro-Gago M; Meseguer Yebra P; Fernández-Seara MJ; Alvarez Moreno A; Gil Calvo M; Rodríguez-Nuñez A; Pavón Belinchón P An Esp Pediatr; 1996 Jul; 45(1):90-2. PubMed ID: 8849142 [No Abstract] [Full Text] [Related]
14. Medullary cystic disease and juvenile nephronophthisis in separate members of the same family. Sworn MJ; Eisinger AJ Arch Dis Child; 1972 Apr; 47(252):278-81. PubMed ID: 5023476 [TBL] [Abstract][Full Text] [Related]