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Page 1
Renal tubular dysgenesis.
Gubler MC. Gubler MC. Pediatr Nephrol. 2014 Jan;29(1):51-9. doi: 10.1007/s00467-013-2480-1. Epub 2013 May 1. Pediatr Nephrol. 2014. PMID: 23636579 Review.
Renal tubular dysgenesis (RTD) is a severe foetal disorder characterised by the absence or poor development of proximal tubules, early onset and persistent anuria (leading to oligohydramnios and the Potter sequence) and ossification defects of the skull. ...
Renal tubular dysgenesis (RTD) is a severe foetal disorder characterised by the absence or poor development of proximal …
Renal tubular dysgenesis in Israel: pathologist's experience and literature review.
Moldavsky M. Moldavsky M. Isr Med Assoc J. 2009 Jan;11(1):6-10. Isr Med Assoc J. 2009. PMID: 19344005 Free article. Review.
BACKGROUND: Renal tubular dysgenesis is a rare lethal kidney abnormality clinically manifested by olighydramnios, anuria and respiratory distress. ...
BACKGROUND: Renal tubular dysgenesis is a rare lethal kidney abnormality clinically manifested by olighydramnios, anuri …
Expanding the clinical spectrum of autosomal-recessive renal tubular dysgenesis: Two siblings with neonatal survival and review of the literature.
Vincent KM, Alrajhi A, Lazier J, Bonin B, Lawrence S, Weiler G, Armour CM. Vincent KM, et al. Mol Genet Genomic Med. 2022 May;10(5):e1920. doi: 10.1002/mgg3.1920. Epub 2022 Mar 14. Mol Genet Genomic Med. 2022. PMID: 35286024 Free PMC article. Review.
BACKGROUND: Autosomal-recessive renal tubular dysgenesis (AR-RTD) is a rare genetic disorder caused by defects in the renin-angiotensin system that manifests as fetal anuria leading to oligohydramnios and Potter sequence. ...
BACKGROUND: Autosomal-recessive renal tubular dysgenesis (AR-RTD) is a rare genetic disorder caused by defects in the r …
Renal tubular dysgenesis: a not uncommon autosomal recessive syndrome: a review.
Allanson JE, Hunter AG, Mettler GS, Jimenez C. Allanson JE, et al. Am J Med Genet. 1992 Jul 15;43(5):811-4. doi: 10.1002/ajmg.1320430512. Am J Med Genet. 1992. PMID: 1642268 Review.
Renal tubular dysgenesis is a recently recognized autosomal recessive condition characterized by short and poorly developed proximal convoluted tubules, leading to oligohydramnios, Potter sequence, and neonatal respiratory failure. ...
Renal tubular dysgenesis is a recently recognized autosomal recessive condition characterized by short and poorly devel …
Management of a Preterm Infant with Renal Tubular Dysgenesis: A Case Report and Review of the Literature.
Kondoh T, Kawai Y, Matsumoto Y, Kumagai N, Miyata M, Tanaka K, Hibino S, Fujita N, Ikezumi Y. Kondoh T, et al. Tohoku J Exp Med. 2020 Sep;252(1):9-14. doi: 10.1620/tjem.252.9. Tohoku J Exp Med. 2020. PMID: 32814721 Free article. Review.
Renal tubular dysgenesis (RTD) is the absence or poor development of the renal proximal tubules caused by gene mutations in the renin-angiotensin system. ...
Renal tubular dysgenesis (RTD) is the absence or poor development of the renal proximal tubules caused by gene mutation …
Renin-angiotensin system in kidney development: renal tubular dysgenesis.
Gubler MC, Antignac C. Gubler MC, et al. Kidney Int. 2010 Mar;77(5):400-6. doi: 10.1038/ki.2009.423. Epub 2009 Nov 18. Kidney Int. 2010. PMID: 19924102 Free article. Review.
Autosomal recessive renal tubular dysgenesis (RTD) is a severe disorder of renal tubular development characterized by early onset and persistent fetal anuria leading to oligohydramnios and the Potter sequence. ...
Autosomal recessive renal tubular dysgenesis (RTD) is a severe disorder of renal tubular development characterized by e …
Obstructed Hemivagina with Ipsilateral Renal Anomaly.
Santos XM, Dietrich JE. Santos XM, et al. J Pediatr Adolesc Gynecol. 2016 Feb;29(1):7-10. doi: 10.1016/j.jpag.2014.09.008. Epub 2014 Sep 28. J Pediatr Adolesc Gynecol. 2016. PMID: 26165909 Review.
Renal tubular dysgenesis (RTD) - an important cause of the oligohydramnion-sequence. Report of 3 cases and review of the literature.
Kriegsmann J, Coerdt W, Kommoss F, Beetz R, Hallermann C, Müntefering H. Kriegsmann J, et al. Pathol Res Pract. 2000;196(12):861-5. doi: 10.1016/s0344-0338(00)80090-4. Pathol Res Pract. 2000. PMID: 11156331 Review.
Renal tubular dysgenesis (RTD) is a disorder characterized by neonatal renal failure and regular gross renal architecture, although the histological features of immature and shortened proximal tubules lead to neonatal death. ...Our data confirm that late seco …
Renal tubular dysgenesis (RTD) is a disorder characterized by neonatal renal failure and regular gross renal architectu …
Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis.
Gribouval O, Morinière V, Pawtowski A, Arrondel C, Sallinen SL, Saloranta C, Clericuzio C, Viot G, Tantau J, Blesson S, Cloarec S, Machet MC, Chitayat D, Thauvin C, Laurent N, Sampson JR, Bernstein JA, Clemenson A, Prieur F, Daniel L, Levy-Mozziconacci A, Lachlan K, Alessandri JL, Cartault F, Rivière JP, Picard N, Baumann C, Delezoide AL, Belar Ortega M, Chassaing N, Labrune P, Yu S, Firth H, Wellesley D, Bitzan M, Alfares A, Braverman N, Krogh L, Tolmie J, Gaspar H, Doray B, Majore S, Bonneau D, Triau S, Loirat C, David A, Bartholdi D, Peleg A, Brackman D, Stone R, DeBerardinis R, Corvol P, Michaud A, Antignac C, Gubler MC. Gribouval O, et al. Hum Mutat. 2012 Feb;33(2):316-26. doi: 10.1002/humu.21661. Epub 2011 Dec 22. Hum Mutat. 2012. PMID: 22095942 Review.
Autosomal recessive renal tubular dysgenesis (RTD) is a severe disorder of renal tubular development characterized by early onset and persistent fetal anuria leading to oligohydramnios and the Potter sequence, associated with skull ossification defects. ...
Autosomal recessive renal tubular dysgenesis (RTD) is a severe disorder of renal tubular development characterized by e …
Renin-angiotensin system-growth factor cross-talk: a novel mechanism for ureteric bud morphogenesis.
Yosypiv IV. Yosypiv IV. Pediatr Nephrol. 2009 Jun;24(6):1113-20. doi: 10.1007/s00467-008-1021-9. Epub 2008 Oct 29. Pediatr Nephrol. 2009. PMID: 18958502 Free PMC article. Review.
Mutations in the genes encoding components of the RAS cause a spectrum of congenital abnormalities of the kidney and renal collecting system, ranging from hypoplasia of the renal medulla and hydronephrosis in mice to renal tubular dysgenesis in humans. Howeve …
Mutations in the genes encoding components of the RAS cause a spectrum of congenital abnormalities of the kidney and renal collecting system …
24 results