Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1983 2
1989 1
1993 2
2000 2
2006 1
2009 1
2013 2
2014 1
2015 2
2017 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

14 results

Results by year

Filters applied: . Clear all
Quoted phrase not found in phrase index: "Nephronophthisis 15"
Page 1
Prospective Evaluation of Kidney Disease in Joubert Syndrome.
Fleming LR, Doherty DA, Parisi MA, Glass IA, Bryant J, Fischer R, Turkbey B, Choyke P, Daryanani K, Vemulapalli M, Mullikin JC, Malicdan MC, Vilboux T, Sayer JA, Gahl WA, Gunay-Aygun M. Fleming LR, et al. Clin J Am Soc Nephrol. 2017 Dec 7;12(12):1962-1973. doi: 10.2215/CJN.05660517. Epub 2017 Nov 16. Clin J Am Soc Nephrol. 2017. PMID: 29146704 Free PMC article.
No kidney disease was identified in patients with mutations in C5orf42 (zero of 15) or KIAA0586 (zero of six). Prenatal ultrasonography of kidneys was normal in 72% of patients with kidney disease. Specific types of kidney disease included nephronophthisis (31%), an …
No kidney disease was identified in patients with mutations in C5orf42 (zero of 15) or KIAA0586 (zero of six). Prenatal ultrasonograp …
Clinical and molecular heterogeneity of juvenile nephronophthisis in Italy: insights from molecular screening.
Caridi G, Dagnino M, Gusmano R, Ginevri F, Murer L, Ghio L, Piaggio G, Ciardi MR, Perfumo F, Ghiggeri GM. Caridi G, et al. Am J Kidney Dis. 2000 Jan;35(1):44-51. doi: 10.1016/S0272-6386(00)70300-3. Am J Kidney Dis. 2000. PMID: 10620543
Autosomal recessive nephronophthisis (NPH) is a renal disorder histologically characterized by tubulointerstitial lesions that are, in some cases, associated with extrarenal manifestations such as tapeto-retinal degeneration or liver fibrosis. ...In spite of this genetic h …
Autosomal recessive nephronophthisis (NPH) is a renal disorder histologically characterized by tubulointerstitial lesions that are, i …
Atypical retinopathy in patients with nephronophthisis type 1: an uncommon ophthalmological finding.
Kang HG, Ahn YH, Kim JH, Ha IS, Yu YS, Park YH, Cheong HI. Kang HG, et al. Clin Exp Ophthalmol. 2015 Jul;43(5):437-42. doi: 10.1111/ceo.12469. Epub 2015 Jan 14. Clin Exp Ophthalmol. 2015. PMID: 25401970
BACKGROUND: Progressive retinal degeneration without retinal pigmentation has been repeatedly observed in Korean nephronophthisis (NPHP) type 1 patients with a total homozygous deletion of NPHP1. ...Chronic renal failure was diagnosed in these five patients at 7.9- …
BACKGROUND: Progressive retinal degeneration without retinal pigmentation has been repeatedly observed in Korean nephronophthisis …
Computational gene expression modeling identifies salivary biomarker analysis that predict oral feeding readiness in the newborn.
Maron JL, Hwang JS, Pathak S, Ruthazer R, Russell RL, Alterovitz G. Maron JL, et al. J Pediatr. 2015 Feb;166(2):282-8.e5. doi: 10.1016/j.jpeds.2014.10.065. J Pediatr. 2015. PMID: 25620512 Free PMC article.
Selected gene expression biomarkers (15 from computational modeling; 6 evidence-based; and 3 reference) were evaluated by reverse-transcription quantitative polymerase chain reaction amplification on 400 salivary samples from successful (n = 200) and unsuccessful (n = 200) …
Selected gene expression biomarkers (15 from computational modeling; 6 evidence-based; and 3 reference) were evaluated by reverse-tra …
Nephronophthisis type 1 deletion syndrome with neurological symptoms: prevalence and significance of the association.
Caridi G, Dagnino M, Rossi A, Valente EM, Bertini E, Fazzi E, Emma F, Murer L, Verrina E, Ghiggeri GM. Caridi G, et al. Kidney Int. 2006 Oct;70(7):1342-7. doi: 10.1038/sj.ki.5001768. Epub 2006 Aug 9. Kidney Int. 2006. PMID: 16900087 Free article.
Type 1 nephronophthisis (NPHP) with homozygous deletions of nephrocystin [NPHP1, DEL] has been considered a pure renal disorder, but co-occurrence of extrarenal symptoms, mainly retinitis pigmentosa, is observed in a subset of patients. ...All had small hyperechoic …
Type 1 nephronophthisis (NPHP) with homozygous deletions of nephrocystin [NPHP1, DEL] has been considered a pure renal disorder, but …
Infantile chronic tubulo-interstitial nephritis with cortical microcysts: variant of nephronophthisis or new disease entity?
Gagnadoux MF, Bacri JL, Broyer M, Habib R. Gagnadoux MF, et al. Pediatr Nephrol. 1989 Jan;3(1):50-5. doi: 10.1007/BF00859626. Pediatr Nephrol. 1989. PMID: 2702088
Over a 15-year period we observed seven children (four girls, three boys) who presented within the first months of life with severe renal failure and acidosis, associated with hypertension in five patients and polyuria in four. ...Two children had successful renal t …
Over a 15-year period we observed seven children (four girls, three boys) who presented within the first months of life with s …
Renal cyclooxygenase products are higher and lipoxygenase products are lower in early disease in the pcy mouse model of adolescent nephronophthisis.
Yamaguchi T, Lysecki C, Reid A, Nagao S, Aukema HM. Yamaguchi T, et al. Lipids. 2014 Jan;49(1):39-47. doi: 10.1007/s11745-013-3859-2. Epub 2013 Nov 1. Lipids. 2014. PMID: 24178445
Nephronophthisis (NPHP) is a pediatric form of hereditary polycystic kidney disease (PKD), and is the leading cause of end stage renal disease in children. ...Renal cysts in enlarged kidneys were observed in pcy mice by 15 days of age and increased over time. …
Nephronophthisis (NPHP) is a pediatric form of hereditary polycystic kidney disease (PKD), and is the leading cause of end stage rena …
Lethal cystic kidney disease in Amish neonates associated with homozygous nonsense mutation of NPHP3.
Simpson MA, Cross HE, Cross L, Helmuth M, Crosby AH. Simpson MA, et al. Am J Kidney Dis. 2009 May;53(5):790-5. doi: 10.1053/j.ajkd.2008.12.026. Epub 2009 Mar 20. Am J Kidney Dis. 2009. PMID: 19303681
BACKGROUND: Nephronophthisis is a group of genetically heterogeneous autosomal recessive cystic kidney disorders with a wide spectrum of severity and age of onset. ...Sequence analysis of this gene showed a cytosine to thymine substitution in exon 15 (c.2104C-->T …
BACKGROUND: Nephronophthisis is a group of genetically heterogeneous autosomal recessive cystic kidney disorders with a wide spectrum …
A contribution to the morphology and pathogenesis of thyroid-like lesions in the kidney.
Laberke HG, Klingebiel T, Quack G. Laberke HG, et al. Pathol Res Pract. 1983 Mar;176(2-4):284-96. doi: 10.1016/S0344-0338(83)80018-1. Pathol Res Pract. 1983. PMID: 6856520
The morphological variations of thyroid-like lesions in the kidney in 15 cases with chronic destructive interstitial nephritis as the basic alteration were examined with light microscopy and immunohistological methods. ...They are pathognomonic for healed destructive bacte …
The morphological variations of thyroid-like lesions in the kidney in 15 cases with chronic destructive interstitial nephritis as the …
A gene for familial juvenile nephronophthisis (recessive medullary cystic kidney disease) maps to chromosome 2p.
Antignac C, Arduy CH, Beckmann JS, Benessy F, Gros F, Medhioub M, Hildebrandt F, Dufier JL, Kleinknecht C, Broyer M, et al. Antignac C, et al. Nat Genet. 1993 Apr;3(4):342-5. doi: 10.1038/ng0493-342. Nat Genet. 1993. PMID: 7981755
Familial juvenile nephronophthisis (NPH) is a chronic autosomal recessive kidney disease responsible for 15% of end stage renal failure in children. ...This was confirmed using adjacent microsatellite markers, one of which (AFM220ze3 at the D2S160 locus) gave a lod …
Familial juvenile nephronophthisis (NPH) is a chronic autosomal recessive kidney disease responsible for 15% of end stage rena …
14 results