Late-onset renal failure in Senior-Loken syndrome

American Journal of Kidney Diseases

Volumn 36, Issue 6, 2000, Pages 1271-1275

  Georges, B ^a   Cosyns, J P ^a   Dahan, K ^a   Snyers, B ^a   Carlier, B ^a   Loute, G ^a   Pirson, Y ^a  

^a CLINIQUES UNIVERSITAIRES SAINT LUC   (Belgium)

Author keywords

Nephronophthisis; Retinal dystrophy; Senior Loken syndrome

Indexed keywords

GENE PRODUCT; PROTEIN NPH 1; UNCLASSIFIED DRUG;

ADULT; ALLELE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CLINICAL FEATURE; DISEASE ASSOCIATION; FEMALE; GENETIC HETEROGENEITY; HISTOLOGY; HUMAN; INTERSTITIAL NEPHRITIS; KIDNEY FAILURE; KIDNEY FUNCTION; MALE; NEPHRONOPHTHISIS; RETINA DEGENERATION; SYMPTOM; TAPETORETINAL DEGENERATION; VISUAL IMPAIRMENT;

EID: 0033659759     PISSN: 02726386     EISSN: None     Source Type: Journal    
DOI: 10.1053/ajkd.2000.19845     Document Type: Article

References (21)

1. Nephronophthisis
2. Nephronophthisis
3. Familial nephropathy with retinitis pigmentosa
4. Senior-Loken syndrome (nephronophthisis and tapeto-retinal degeneration): A study of 8 cases from 5 families
5. Hereditary nephritis, retinitis pigmenrosa and chromosomal abnormalities
6. Nephronophthisis
7. Nephronophthisis (medullary cystic disease of the kidney)
8. Large humozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis
9. Late occurrence of cysts in autosomal dominant medullary cystic kidney disease
10. Chromosome 1 localization of a gene for autosomal dominant medullary cystic kidney disease (ADMCKD)
11. Autosomal dominant medullary cystic disease: Disorder with variable clinical pictures and exclusion of linkage with the NPH 1 locus
12. Kidney involvement in mitochondrial disorders
13. The spectrum of renal disease in Laurence Moon Biedl syndrome
14. Familial interstitial nephritis and retinitis pigmentosa
15. About familial intersitial nephritis and retinitis pigmentosa
16. A gene for familiar juvenile nephronophthisis (recessive medullary cystic kidney disease) maps to chromosome 2p
17. A Bedouin kindred with infantile nephronophthisis demonstrates linkage to chromosome 9 by homozygosity mapping
18. A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1
19. Vers l'identification du gene de la nephronophtise
20. Renal-retinal syndromes: Association of retinal anomalies and recessive nephronophthisis in patients with homozygous deletion of the NPH1 locus
21. Clinical and molecular heterogeneity of juvenile nephronophthisis in Italy: Insights from molecular screening