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Nephronophthisis

Known as: NEPHRONOPTHISIS, FAMILIAL JUVENILE, cystic kidneys medullary, Nephronopthisis 
Progressive tubulointerstitial injury, inherited in an autosomal recessive pattern, caused by mutations in genes involved in ciliary function, which… 
National Institutes of Health

Related topics

Related topics

21 relations
COACH syndromeCRANIOECTODERMAL DYSPLASIA 3INTERSTITIAL NEPHRITIS, KARYOMEGALICJOUBERT SYNDROME 2

Broader (2)

Congenital cystic kidney diseaseCystic kidney

Narrower (1)

Nephronophthisis, familial juvenile

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2006
2006
Medullary cystic kidney disease type 1: mutational analysis in 37 genes based on haplotype sharing
Medullary cystic kidney disease type 1 (MCKD1) is an autosomal dominant, tubulo-interstitial nephropathy that causes renal salt… 
Highly Cited
2004
Highly Cited
2004
The nephronophthisis complex
The clinical and morphological findings are described in 27 children with nephronophthisis. Seventeen children were considered as… 
Highly Cited
1978
Highly Cited
1978
Tamm-Horsfall protein. Abnormal localization in renal disease.
Interstitial deposits of periodic acid-Schiff positive fibrillar material have been detected in a variety of diseases associated… 
1976
1976
Senior-Loken syndrome (nephronophthisis and tapeto-retinal degeneration): a study of 8 cases from 5 families.
The association of nephronophthisis and tapeto-retional degeneration was described by both Senior and Loken in 1961, but prior to… 
1975
1975
Effect of I,25-dihydroxycholecalciferol in renal osteodystrophy.
A 23-year-old man with medullary cystic disease had been undergoing hemodialysis for 5 years and had become confined to a… 
Highly Cited
1967
Highly Cited
1967
Medullary cystic disease in two siblings
1966
1966
Disorders of renal concentrating ability.
The ability of the kidneys to excrete a concentrated urine is impaired together with other renal functions whenever the kidneys… 
Highly Cited
1965
Highly Cited
1965
FAMILIAL NEPHROPATHY WITH RETINITIS PIGMENTOSA; A NEW OCULORENAL SYNDROME IN ADULTS.
1960
1960
Juvenile Nephronophthisis. Part II A Histologic and Microangiographic Study
The renal changes in fatal cases of familial juvenile nephronophthisis have been described previously (Fanconi et al., 1951… 
1958
1958
Familial Juvenile Nephronophthisis
In two families with five and three children respectively, two of the children in each family died of renal diseases with a very… 
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