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

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Page 1
Nephronophthisis-Related Ciliopathies.
Stokman M, Lilien M, Knoers N. Stokman M, et al. 2016 Jun 23 [updated 2023 Mar 2]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. 2016 Jun 23 [updated 2023 Mar 2]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. PMID: 27336129 Free Books & Documents. Review.
Briefly describe the clinical characteristics of nephronophthisis-related ciliopathies; 2.. Review the genetic causes of nephronophthisis-related ciliopathies; 3.. ...Review management of nephronophthisis-related ciliopathies; 6.. Inform genetic counseling of …
Briefly describe the clinical characteristics of nephronophthisis-related ciliopathies; 2.. Review the genetic causes of nephronop …
Nephronophthisis: a pathological and genetic perspective.
Wolf MTF, Bonsib SM, Larsen CP, Hildebrandt F. Wolf MTF, et al. Pediatr Nephrol. 2024 Jul;39(7):1977-2000. doi: 10.1007/s00467-023-06174-8. Epub 2023 Nov 6. Pediatr Nephrol. 2024. PMID: 37930417 Review.
Nephronophthisis (NPHP) is an autosomal recessive cystic kidney disease and is one of the most frequent genetic causes for kidney failure (KF) in children and adolescents. ...
Nephronophthisis (NPHP) is an autosomal recessive cystic kidney disease and is one of the most frequent genetic causes for kidney fai …
Nephronophthisis.
Wolf MT, Hildebrandt F. Wolf MT, et al. Pediatr Nephrol. 2011 Feb;26(2):181-94. doi: 10.1007/s00467-010-1585-z. Epub 2010 Jul 22. Pediatr Nephrol. 2011. PMID: 20652329 Free PMC article. Review.
Nephronophthisis (NPHP) is an autosomal recessive cystic kidney disease and the most frequent genetic cause of end-stage renal disease up to the third decade of life. ...As an increasing number of these genes are identified, our knowledge of nephronophthisis is chan …
Nephronophthisis (NPHP) is an autosomal recessive cystic kidney disease and the most frequent genetic cause of end-stage renal diseas …
Nephronophthisis.
Salomon R, Saunier S, Niaudet P. Salomon R, et al. Pediatr Nephrol. 2009 Dec;24(12):2333-44. doi: 10.1007/s00467-008-0840-z. Epub 2008 Jul 8. Pediatr Nephrol. 2009. PMID: 18607645 Free PMC article. Review.
Nephronophthisis (NPH) is an autosomal recessive disease characterized by a chronic tubulointerstitial nephritis that progress to terminal renal failure during the second decade (juvenile form) or before the age of 5 years (infantile form). ...
Nephronophthisis (NPH) is an autosomal recessive disease characterized by a chronic tubulointerstitial nephritis that progress to ter …
The Joubert-Meckel-Nephronophthisis Spectrum of Ciliopathies.
Van De Weghe JC, Gomez A, Doherty D. Van De Weghe JC, et al. Annu Rev Genomics Hum Genet. 2022 Aug 31;23:301-329. doi: 10.1146/annurev-genom-121321-093528. Epub 2022 Jun 2. Annu Rev Genomics Hum Genet. 2022. PMID: 35655331 Free PMC article. Review.
The Joubert syndrome (JS), Meckel syndrome (MKS), and nephronophthisis (NPH) ciliopathy spectrum could be the poster child for advances and challenges in Mendelian human genetics over the past half century. ...
The Joubert syndrome (JS), Meckel syndrome (MKS), and nephronophthisis (NPH) ciliopathy spectrum could be the poster child for advanc …
Nephronophthisis.
Saunier S, Salomon R, Antignac C. Saunier S, et al. Curr Opin Genet Dev. 2005 Jun;15(3):324-31. doi: 10.1016/j.gde.2005.04.012. Curr Opin Genet Dev. 2005. PMID: 15917209 Review.
There has been tremendous progress in the past few years in understanding the molecular basis of nephronophthisis, and it is now evident that the disease is characterized by both clinical and genetic heterogeneity. ...
There has been tremendous progress in the past few years in understanding the molecular basis of nephronophthisis, and it is now evid …
Nephronophthisis: A review of genotype-phenotype correlation.
Luo F, Tao YH. Luo F, et al. Nephrology (Carlton). 2018 Oct;23(10):904-911. doi: 10.1111/nep.13393. Epub 2018 Jun 21. Nephrology (Carlton). 2018. PMID: 29717526 Free PMC article. Review.
Nephronophthisis is a genetically heterogenous disorder with more than 25 identified genes. ...This review provides an update of the recent advances in the clinical features and related gene mutations of nephronophthisis, and novel approaches for therapy in nephr …
Nephronophthisis is a genetically heterogenous disorder with more than 25 identified genes. ...This review provides an update of the …
Nephronophthisis and related syndromes.
Wolf MT. Wolf MT. Curr Opin Pediatr. 2015 Apr;27(2):201-11. doi: 10.1097/MOP.0000000000000194. Curr Opin Pediatr. 2015. PMID: 25635582 Free PMC article. Review.
PURPOSE OF REVIEW: Nephronophthisis (NPHP) is an autosomal recessive cystic kidney disease and is one of the most common genetic disorders causing end-stage renal disease (ESRD) in children and adolescents. ...
PURPOSE OF REVIEW: Nephronophthisis (NPHP) is an autosomal recessive cystic kidney disease and is one of the most common genetic diso …
Nephronophthisis-Pathobiology and Molecular Pathogenesis of a Rare Kidney Genetic Disease.
Gupta S, Ozimek-Kulik JE, Phillips JK. Gupta S, et al. Genes (Basel). 2021 Nov 5;12(11):1762. doi: 10.3390/genes12111762. Genes (Basel). 2021. PMID: 34828368 Free PMC article. Review.
This shift has enabled the discovery of novel cystogenic genes at an accelerated pace unlike ever before and, most notably, the past decade has seen the largest increase in identification of the genes which cause nephronophthisis (NPHP). NPHP is a monogenic autosomal reces …
This shift has enabled the discovery of novel cystogenic genes at an accelerated pace unlike ever before and, most notably, the past decade …
Nephronophthisis.
Srivastava S, Sayer JA. Srivastava S, et al. J Pediatr Genet. 2014 Jun;3(2):103-14. doi: 10.3233/PGE-14086. J Pediatr Genet. 2014. PMID: 27625867 Free PMC article.
Nephronophthisis (NPHP) is a childhood cystic kidney disease, which almost invariably leads to end-stage renal disease in those affected. ...
Nephronophthisis (NPHP) is a childhood cystic kidney disease, which almost invariably leads to end-stage renal disease in those affec …
1,071 results