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Page 1
TERT Promoter Mutations as Simple and Non-Invasive Urinary Biomarkers for the Detection of Urothelial Bladder Cancer in a High-Risk Region.
Pakmanesh H, Anvari O, Forey N, Weiderpass E, Malekpourafshar R, Iranpour M, Shahesmaeili A, Ahmadi N, Bazrafshan A, Zendehdel K, Kannengiesser C, Ba I, McKay J, Zvereva M, Hosen MI, Sheikh M, Calvez-Kelm FL. Pakmanesh H, et al. Among authors: kannengiesser c. Int J Mol Sci. 2022 Nov 18;23(22):14319. doi: 10.3390/ijms232214319. Int J Mol Sci. 2022. PMID: 36430798 Free PMC article.
Variable age of onset and clinical severity in transferrin receptor 2 related haemochromatosis: novel observations.
Bardou-Jacquet E, Cunat S, Beaumont-Epinette MP, Kannengiesser C, Causse X, Sauvion S, Pouliquen B, Deugnier Y, David V, Loréal O, Aguilar-Martinez P, Brissot P, Jouanolle AM. Bardou-Jacquet E, et al. Among authors: kannengiesser c. Br J Haematol. 2013 Jul;162(2):278-81. doi: 10.1111/bjh.12350. Epub 2013 Apr 18. Br J Haematol. 2013. PMID: 23600741 Free article. No abstract available.
Inactive matriptase-2 mutants found in IRIDA patients still repress hepcidin in a transfection assay despite having lost their serine protease activity.
Guillem F, Kannengiesser C, Oudin C, Lenoir A, Matak P, Donadieu J, Isidor B, Méchinaud F, Aguilar-Martinez P, Beaumont C, Vaulont S, Grandchamp B, Nicolas G. Guillem F, et al. Among authors: kannengiesser c. Hum Mutat. 2012 Sep;33(9):1388-96. doi: 10.1002/humu.22116. Epub 2012 May 30. Hum Mutat. 2012. PMID: 22581667 Free article.
Iron refractory iron deficiency anemia.
De Falco L, Sanchez M, Silvestri L, Kannengiesser C, Muckenthaler MU, Iolascon A, Gouya L, Camaschella C, Beaumont C. De Falco L, et al. Among authors: kannengiesser c. Haematologica. 2013 Jun;98(6):845-53. doi: 10.3324/haematol.2012.075515. Haematologica. 2013. PMID: 23729726 Free PMC article. Review.
Two novel mutations in the EIF2AK3 gene in children with Wolcott-Rallison syndrome.
Reis AF, Kannengiesser C, Jennane F, Manna TD, Cheurfa N, Oudin C, Savoldelli RD, Oliveira C, Grandchamp B, Kok F, Velho G. Reis AF, et al. Among authors: kannengiesser c. Pediatr Diabetes. 2011 May;12(3 Pt 1):187-91. doi: 10.1111/j.1399-5448.2010.00679.x. Epub 2010 Sep 7. Pediatr Diabetes. 2011. PMID: 21518408
Missense SLC25A38 variations play an important role in autosomal recessive inherited sideroblastic anemia.
Kannengiesser C, Sanchez M, Sweeney M, Hetet G, Kerr B, Moran E, Fuster Soler JL, Maloum K, Matthes T, Oudot C, Lascaux A, Pondarré C, Sevilla Navarro J, Vidyatilake S, Beaumont C, Grandchamp B, May A. Kannengiesser C, et al. Haematologica. 2011 Jun;96(6):808-13. doi: 10.3324/haematol.2010.039164. Epub 2011 Mar 10. Haematologica. 2011. PMID: 21393332 Free PMC article.
Hematologically important mutations: X-linked chronic granulomatous disease (third update).
Roos D, Kuhns DB, Maddalena A, Roesler J, Lopez JA, Ariga T, Avcin T, de Boer M, Bustamante J, Condino-Neto A, Di Matteo G, He J, Hill HR, Holland SM, Kannengiesser C, Köker MY, Kondratenko I, van Leeuwen K, Malech HL, Marodi L, Nunoi H, Stasia MJ, Ventura AM, Witwer CT, Wolach B, Gallin JI. Roos D, et al. Among authors: kannengiesser c. Blood Cells Mol Dis. 2010 Oct 15;45(3):246-65. doi: 10.1016/j.bcmd.2010.07.012. Epub 2010 Aug 21. Blood Cells Mol Dis. 2010. PMID: 20729109 Free PMC article. Review.
129 results