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

Year Number of Results
1964 1
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2008 27
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1,326 results

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Quoted phrase not found in phrase index: "Abnormality of the kidney"
Page 1
Ciliopathies and the Kidney: A Review.
McConnachie DJ, Stow JL, Mallett AJ. McConnachie DJ, et al. Am J Kidney Dis. 2021 Mar;77(3):410-419. doi: 10.1053/j.ajkd.2020.08.012. Epub 2020 Oct 9. Am J Kidney Dis. 2021. PMID: 33039432 Free article. Review.
Many of these mutations manifest as renal ciliopathies, characterized by kidney dysfunction resulting from aberrant cilia or ciliary functions. ...Due to cystic-associated kidney injury and systemic inflammation, cases result in kidney failure requiring dialy …
Many of these mutations manifest as renal ciliopathies, characterized by kidney dysfunction resulting from aberrant cilia or ciliary …
The genetics and pathogenesis of CAKUT.
Kolvenbach CM, Shril S, Hildebrandt F. Kolvenbach CM, et al. Nat Rev Nephrol. 2023 Nov;19(11):709-720. doi: 10.1038/s41581-023-00742-9. Epub 2023 Jul 31. Nat Rev Nephrol. 2023. PMID: 37524861 Review.
Congenital anomalies of the kidney and urinary tract (CAKUT) comprise a large variety of malformations that arise from defective kidney or urinary tract development and frequently lead to kidney failure. The clinical spectrum ranges from severe …
Congenital anomalies of the kidney and urinary tract (CAKUT) comprise a large variety of malformations that arise from …
A Primer on Congenital Anomalies of the Kidneys and Urinary Tracts (CAKUT).
Murugapoopathy V, Gupta IR. Murugapoopathy V, et al. Clin J Am Soc Nephrol. 2020 May 7;15(5):723-731. doi: 10.2215/CJN.12581019. Epub 2020 Mar 18. Clin J Am Soc Nephrol. 2020. PMID: 32188635 Free PMC article. Review.
Congenital anomalies of the kidneys and urinary tracts (CAKUT) are disorders caused by defects in the development of the kidneys and their outflow tracts. ...However, in less severe cases, the baby can survive with combined kidney and outflow tract defects or they m …
Congenital anomalies of the kidneys and urinary tracts (CAKUT) are disorders caused by defects in the development of the kidneys and …
Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players.
Domingo-Gallego A, Pybus M, Bullich G, Furlano M, Ejarque-Vila L, Lorente-Grandoso L, Ruiz P, Fraga G, López González M, Piñero-Fernández JA, Rodríguez-Peña L, Llano-Rivas I, Sáez R, Bujons-Tur A, Ariceta G, Guirado L, Torra R, Ars E. Domingo-Gallego A, et al. Nephrol Dial Transplant. 2022 Mar 25;37(4):687-696. doi: 10.1093/ndt/gfab019. Nephrol Dial Transplant. 2022. PMID: 33532864
BACKGROUND: Inherited kidney diseases are one of the leading causes of chronic kidney disease (CKD) that manifests before the age of 30 years. ...RESULTS: We achieved a global diagnostic yield of 65% (300/460), which varied depending on the clinical diagnostic group …
BACKGROUND: Inherited kidney diseases are one of the leading causes of chronic kidney disease (CKD) that manifests before the …
Management of the congenital solitary kidney: consensus recommendations of the Italian Society of Pediatric Nephrology.
La Scola C, Ammenti A, Bertulli C, Bodria M, Brugnara M, Camilla R, Capone V, Casadio L, Chimenz R, Conte ML, Conversano E, Corrado C, Guarino S, Luongo I, Marsciani M, Marzuillo P, Meneghesso D, Pennesi M, Pugliese F, Pusceddu S, Ravaioli E, Taroni F, Vergine G, Peruzzi L, Montini G. La Scola C, et al. Pediatr Nephrol. 2022 Sep;37(9):2185-2207. doi: 10.1007/s00467-022-05528-y. Epub 2022 Jun 17. Pediatr Nephrol. 2022. PMID: 35713730 Free PMC article. Review.
In recent years, several studies have been published on the prognosis of children with congenital solitary kidney (CSK), with controversial results, and a worldwide consensus on management and follow-up is lacking. ...We recommend that any antenatal suspicion/diagno …
In recent years, several studies have been published on the prognosis of children with congenital solitary kidney (CSK), with …
Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract.
van der Ven AT, Connaughton DM, Ityel H, Mann N, Nakayama M, Chen J, Vivante A, Hwang DY, Schulz J, Braun DA, Schmidt JM, Schapiro D, Schneider R, Warejko JK, Daga A, Majmundar AJ, Tan W, Jobst-Schwan T, Hermle T, Widmeier E, Ashraf S, Amar A, Hoogstraaten CA, Hugo H, Kitzler TM, Kause F, Kolvenbach CM, Dai R, Spaneas L, Amann K, Stein DR, Baum MA, Somers MJG, Rodig NM, Ferguson MA, Traum AZ, Daouk GH, Bogdanović R, Stajić N, Soliman NA, Kari JA, El Desoky S, Fathy HM, Milosevic D, Al-Saffar M, Awad HS, Eid LA, Selvin A, Senguttuvan P, Sanna-Cherchi S, Rehm HL, MacArthur DG, Lek M, Laricchia KM, Wilson MW, Mane SM, Lifton RP, Lee RS, Bauer SB, Lu W, Reutter HM, Tasic V, Shril S, Hildebrandt F. van der Ven AT, et al. J Am Soc Nephrol. 2018 Sep;29(9):2348-2361. doi: 10.1681/ASN.2017121265. Epub 2018 Aug 24. J Am Soc Nephrol. 2018. PMID: 30143558 Free PMC article.
BACKGROUND: Congenital anomalies of the kidney and urinary tract (CAKUT) are the most prevalent cause of kidney disease in the first three decades of life. ...
BACKGROUND: Congenital anomalies of the kidney and urinary tract (CAKUT) are the most prevalent cause of kidney …
Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD).
Carrera P, Calzavara S, Magistroni R, den Dunnen JT, Rigo F, Stenirri S, Testa F, Messa P, Cerutti R, Scolari F, Izzi C, Edefonti A, Negrisolo S, Benetti E, Alibrandi MT, Manunta P, Boletta A, Ferrari M. Carrera P, et al. Sci Rep. 2016 Aug 8;6:30850. doi: 10.1038/srep30850. Sci Rep. 2016. PMID: 27499327 Free PMC article.
Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the most common hereditary kidney disease. ...
Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the most common hereditary kidney disease. ...
Hereditary Renal Diseases.
Mehta L, Jim B. Mehta L, et al. Semin Nephrol. 2017 Jul;37(4):354-361. doi: 10.1016/j.semnephrol.2017.05.007. Semin Nephrol. 2017. PMID: 28711074 Review.
Hereditary kidney disease comprises approximately 10% of adults and nearly all children who require renal replacement therapy. ...In this article, we review the genetics of renal diseases, including common monogenic diseases such as polycystic kidney disease, Alport …
Hereditary kidney disease comprises approximately 10% of adults and nearly all children who require renal replacement therapy. ...In …
Inherited renal diseases.
Leung JC. Leung JC. Curr Pediatr Rev. 2014;10(2):95-100. doi: 10.2174/157339631002140513101755. Curr Pediatr Rev. 2014. PMID: 25088262 Review.
Genetic disorders of the kidney include cystic diseases, metabolic diseases and immune glomerulonephritis. Cystic diseases include autosomal dominant and recessive polycystic kidney disease (ADPKD, ARPKD, respectively). Neonates with enlarged, cystic kidneys …
Genetic disorders of the kidney include cystic diseases, metabolic diseases and immune glomerulonephritis. Cystic diseases inc …
Genetic Spectrum of Polycystic Kidney and Liver Diseases and the Resulting Phenotypes.
Yang H, Sieben CJ, Schauer RS, Harris PC. Yang H, et al. Adv Kidney Dis Health. 2023 Sep;30(5):397-406. doi: 10.1053/j.akdh.2023.04.004. Adv Kidney Dis Health. 2023. PMID: 38097330 Review.
Polycystic kidney diseases are a group of monogenically inherited disorders characterized by cyst development in the kidney with defects in primary cilia function central to pathogenesis. Autosomal dominant polycystic kidney disease (ADPKD) has progres …
Polycystic kidney diseases are a group of monogenically inherited disorders characterized by cyst development in the kidney …
1,326 results