|1.||Hildebrandt, F: 8 articles (06/2001 - 01/2000)|
|2.||Otto, E: 5 articles (06/2001 - 02/2000)|
|3.||Rensing, C: 4 articles (02/2001 - 02/2000)|
|4.||Antignac, C: 3 articles (11/2006 - 03/2000)|
|5.||Caridi, G: 3 articles (10/2006 - 06/2000)|
|6.||Imm, A: 3 articles (06/2001 - 09/2000)|
|7.||Omran, H: 3 articles (04/2001 - 01/2000)|
|8.||Betz, R: 3 articles (02/2001 - 06/2000)|
|9.||Wang, Ellian: 2 articles (05/2009 - 11/2008)|
|10.||Chiou, Yuan-Yow: 2 articles (05/2009 - 11/2008)|
|1.||Retinitis Pigmentosa (Pigmentary Retinopathy)
07/01/1996 - "[Juvenile nephronophthisis with tapetoretinal degeneration, skeletal changes and special phenotypic traits]."
08/01/1987 - "The association of tapetoretinal degeneration with familial juvenile nephronophthisis is a rare oculorenal syndrome. "
02/01/1980 - "Sector retinitis pigmentosa in juvenile nephronophthisis."
02/01/1968 - "[Autopsied case of familial juvenile nephronophthisis with tapetoretinal degeneration]."
01/01/2004 - "CASE 2: A 14-year-old boy had bilateral retinitis pigmentosa and juvenile nephronophthisis with continuous ambulatory peritoneal dialysis. "
|2.||Inborn Genetic Diseases (Disease, Hereditary)
11/01/2006 - "Our genetic study demonstrated that patients belonging to family 1 had homozygous deletions in NPHP1, all affected individuals from family 3 were linked to NPHP4 and presented a deletion in exons 2 and 3. Results are pending for patients in family 2. Senior-Løken syndrome is a rare hereditary disease that combines familial juvenile nephronophthisis and retinitis pigmentosa. "
12/15/1985 - "Senior-Loken syndrome is a rare hereditary disease that combines a disorder resembling familial juvenile nephronophthisis with retinitis pigmentosa. "
|4.||Pervasive Child Development Disorders
01/01/2014 - "This study supports the clinical observation of nephronophthisis 1 duplication in autism spectrum disorder cases and might contribute to our understanding of the clinical phenotype that arises from this duplication. "
01/01/2014 - "In this study, we identified nephronophthisis 1 duplications in two unrelated Japanese patients with autism spectrum disorder using a high-resolution single-nucleotide polymorphism array. "
01/01/2014 - "However, the second autism spectrum disorder patient with a nephronophthisis 1 duplication had a below-average performance intelligence quotient. "
01/01/2014 - "This report is the first to describe a nephronophthisis 1 duplication in an autism spectrum disorder patient with an average verbal intelligence quotient and an average performance intelligence quotient. "
01/01/2014 - "To the best of our knowledge, only six autism spectrum disorder cases with duplications of the nephronophthisis 1 gene have been reported. "
|5.||Chronic Kidney Failure (Chronic Renal Failure)
11/01/2008 - "Juvenile nephronophthisis type I is the most common genetic disorder causing end-stage renal failure in children and young adults. "
08/01/2003 - "Genes associated with many familial renal disorders that lead to ESRD have been isolated; these include Alport's nephropathy, familial juvenile nephronophthisis and adult polycystic disease. "
02/01/2001 - "Juvenile nephronophthisis (NPH1), an autosomal recessive cystic disease of the kidney, represents the most common genetic cause of end-stage renal disease in the first two decades of life. "
03/01/2000 - "Familial juvenile nephronophthisis is an autosomal recessive, genetically heterogeneous kidney disorder representing the most frequent inherited cause of chronic renal failure in children. "
12/01/1997 - "Familial juvenile nephronophthisis (NPH) is an autosomal recessive, genetically heterogeneous disorder, representing the most frequent inherited cause of chronic renal failure in children. "
|1.||Senior Loken Syndrome
|5.||Collagen Type IV (Type IV Collagen)
|10.||Proteins (Proteins, Gene)
|1.||Continuous Ambulatory Peritoneal Dialysis (CAPD)