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
2003 1
2005 1
2006 2
2008 1
2009 1
2010 1
2014 1
2021 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

8 results

Results by year

Filters applied: . Clear all
Page 1
Diagnosis and Management of Renal Cystic Disease of the Newborn: Core Curriculum 2021.
Raina R, Chakraborty R, Sethi SK, Kumar D, Gibson K, Bergmann C. Raina R, et al. Am J Kidney Dis. 2021 Jul;78(1):125-141. doi: 10.1053/j.ajkd.2020.10.021. Epub 2021 Jan 6. Am J Kidney Dis. 2021. PMID: 33418012 Review.
This installment of AJKD's Core Curriculum in Nephrology discusses various genetic and sporadic kidney cystic diseases, including multicystic dysplastic kidney, nephronophthisis, cystic dysplasia, hepatocyte nuclear factor 1-beta (HNF1-beta) nephropathy, Bardet-Biedl syndr …
This installment of AJKD's Core Curriculum in Nephrology discusses various genetic and sporadic kidney cystic diseases, including multicysti …
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). ...Histologic lesions are …
Nephronophthisis (NPH) is an autosomal recessive disease characterized by a chronic tubulointerstitial nephritis that progress to ter …
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. ...Two animal models with mutations in the mouse orthologs …
There has been tremendous progress in the past few years in understanding the molecular basis of nephronophthisis, and it is now evid …
[Nephronophtisis].
Niaudet P, Salomon R. Niaudet P, et al. Nephrol Ther. 2006 Sep;2(4):200-6. doi: 10.1016/j.nephro.2006.06.006. Epub 2006 Aug 1. Nephrol Ther. 2006. PMID: 16966065 Review. French.
Nephronophthisis is a chronic tubulo-interstitial nephritis which progress to terminal renal failure. ...Medullary cystic disease is transmitted as an autosomic dominant trait. Clinical and histological signs are similar to nephronophthisis, but the disease progress …
Nephronophthisis is a chronic tubulo-interstitial nephritis which progress to terminal renal failure. ...Medullary cystic disease is …
Towards the identification of (a) gene(s) for autosomal dominant medullary cystic kidney disease.
Scolari F, Viola BF, Ghiggeri GM, Caridi G, Amoroso A, Rampoldi L, Casari G. Scolari F, et al. J Nephrol. 2003 May-Jun;16(3):321-8. J Nephrol. 2003. PMID: 12832729 Review.
Medullary cystic kidney disease (MCKD) belongs with nephronophthisis (NPH) in a group of inherited tubulo-interstitial nephritis, which has been referred to as the NPH-MCKD complex. ...The majority of juvenile NPH cases are due to deletion of the NPHP1 gene on chromosome 2 …
Medullary cystic kidney disease (MCKD) belongs with nephronophthisis (NPH) in a group of inherited tubulo-interstitial nephritis, whi …
Genetic kidney diseases in the pediatric population of southern Israel.
Finer G, Shalev H, Landau D. Finer G, et al. Pediatr Nephrol. 2006 Jul;21(7):910-6. doi: 10.1007/s00467-006-0142-2. Epub 2006 May 30. Pediatr Nephrol. 2006. PMID: 16773401 Review.
Herein we summarize the progress that has been made over the past decade in disclosing the molecular basis of several novel GKDs, which were characterized in our area and include Bartter syndrome type IV, type II Bartter syndrome and transient neonatal hyperkalemia, cystinuria an …
Herein we summarize the progress that has been made over the past decade in disclosing the molecular basis of several novel GKDs, which were …
Early presentation of cystic kidneys in a family with a homozygous INVS mutation.
Oud MM, van Bon BW, Bongers EM, Hoischen A, Marcelis CL, de Leeuw N, Mol SJ, Mortier G, Knoers NV, Brunner HG, Roepman R, Arts HH. Oud MM, et al. Am J Med Genet A. 2014 Jul;164A(7):1627-34. doi: 10.1002/ajmg.a.36501. Epub 2014 Mar 26. Am J Med Genet A. 2014. PMID: 24677454 Review.
Nephronophthisis (NPHP) is an autosomal recessive cystic kidney disease that is the most frequent monogenic cause of end-stage renal disease in children. Infantile NPHP, often in combination with other features like situs inversus, are commonly caused by mutations i …
Nephronophthisis (NPHP) is an autosomal recessive cystic kidney disease that is the most frequent monogenic cause of end-stage renal …
[Childhood genetic renal diseases in southern Israel].
Landau D, Shalev H. Landau D, et al. Harefuah. 2010 Mar;149(3):180-5, 193. Harefuah. 2010. PMID: 20684172 Review. Hebrew.
Herein, the authors summarize the progress that has been made over this period in disclosing the molecular basis of several novel GKDs which were characterized in this area and include Bartter syndrome type IV, type II Bartter syndrome and transient neonatal hyperkalemia, cystinu …
Herein, the authors summarize the progress that has been made over this period in disclosing the molecular basis of several novel GKDs which …