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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. Among authors: bitzan m. Hum Mutat. 2012 Feb;33(2):316-26. doi: 10.1002/humu.21661. Epub 2011 Dec 22. Hum Mutat. 2012. PMID: 22095942 Review.
Renal tubular dysgenesis and microcolon, a novel association. Report of three cases.
Saskin A, Alfares A, Bernard C, Blumenkrantz M, Braverman N, Gupta I, Brosnihan KB, Antignac C, Gubler MC, Morinière V, De Bie I, Bitzan M. Saskin A, et al. Among authors: bitzan m. Eur J Med Genet. 2019 Apr;62(4):254-258. doi: 10.1016/j.ejmg.2018.07.024. Epub 2018 Jul 31. Eur J Med Genet. 2019. PMID: 30071301
Management of hemolytic uremic syndrome.
Loirat C, Saland J, Bitzan M. Loirat C, et al. Among authors: bitzan m. Presse Med. 2012 Mar;41(3 Pt 2):e115-35. doi: 10.1016/j.lpm.2011.11.013. Epub 2012 Jan 27. Presse Med. 2012. PMID: 22284541
An international consensus approach to the management of atypical hemolytic uremic syndrome in children.
Loirat C, Fakhouri F, Ariceta G, Besbas N, Bitzan M, Bjerre A, Coppo R, Emma F, Johnson S, Karpman D, Landau D, Langman CB, Lapeyraque AL, Licht C, Nester C, Pecoraro C, Riedl M, van de Kar NC, Van de Walle J, Vivarelli M, Frémeaux-Bacchi V; HUS International. Loirat C, et al. Among authors: bitzan m. Pediatr Nephrol. 2016 Jan;31(1):15-39. doi: 10.1007/s00467-015-3076-8. Epub 2015 Apr 11. Pediatr Nephrol. 2016. PMID: 25859752 Review.
ARHGDIA: a novel gene implicated in nephrotic syndrome.
Gupta IR, Baldwin C, Auguste D, Ha KC, El Andalousi J, Fahiminiya S, Bitzan M, Bernard C, Akbari MR, Narod SA, Rosenblatt DS, Majewski J, Takano T. Gupta IR, et al. Among authors: bitzan m. J Med Genet. 2013 May;50(5):330-8. doi: 10.1136/jmedgenet-2012-101442. Epub 2013 Feb 22. J Med Genet. 2013. PMID: 23434736 Free PMC article.
Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.
Otto EA, Ramaswami G, Janssen S, Chaki M, Allen SJ, Zhou W, Airik R, Hurd TW, Ghosh AK, Wolf MT, Hoppe B, Neuhaus TJ, Bockenhauer D, Milford DV, Soliman NA, Antignac C, Saunier S, Johnson CA, Hildebrandt F; GPN Study Group. Otto EA, et al. J Med Genet. 2011 Feb;48(2):105-16. doi: 10.1136/jmg.2010.082552. Epub 2010 Nov 10. J Med Genet. 2011. PMID: 21068128 Free PMC article.
An audit analysis of a guideline for the investigation and initial therapy of diarrhea negative (atypical) hemolytic uremic syndrome.
Johnson S, Stojanovic J, Ariceta G, Bitzan M, Besbas N, Frieling M, Karpman D, Landau D, Langman C, Licht C, Pecoraro C, Riedl M, Siomou E, van de Kar N, Walle JV, Loirat C, Taylor CM. Johnson S, et al. Among authors: bitzan m. Pediatr Nephrol. 2014 Oct;29(10):1967-78. doi: 10.1007/s00467-014-2817-4. Epub 2014 May 11. Pediatr Nephrol. 2014. PMID: 24817340
93 results