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Page 1
Sideroblastic anemia: molecular analysis of the ALAS2 gene in a series of 29 probands and functional studies of 10 missense mutations.
Ducamp S, Kannengiesser C, Touati M, Garçon L, Guerci-Bresler A, Guichard JF, Vermylen C, Dochir J, Poirel HA, Fouyssac F, Mansuy L, Leroux G, Tertian G, Girot R, Heimpel H, Matthes T, Talbi N, Deybach JC, Beaumont C, Puy H, Grandchamp B. Ducamp S, et al. Among authors: kannengiesser c. Hum Mutat. 2011 Jun;32(6):590-7. doi: 10.1002/humu.21455. Epub 2011 Feb 24. Hum Mutat. 2011. PMID: 21309041
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.
Comprehensive functional annotation of 18 missense mutations found in suspected hemochromatosis type 4 patients.
Callebaut I, Joubrel R, Pissard S, Kannengiesser C, Gérolami V, Ged C, Cadet E, Cartault F, Ka C, Gourlaouen I, Gourhant L, Oudin C, Goossens M, Grandchamp B, De Verneuil H, Rochette J, Férec C, Le Gac G. Callebaut I, et al. Among authors: kannengiesser c. Hum Mol Genet. 2014 Sep 1;23(17):4479-90. doi: 10.1093/hmg/ddu160. Epub 2014 Apr 8. Hum Mol Genet. 2014. PMID: 24714983
Severe hematologic complications after lung transplantation in patients with telomerase complex mutations.
Borie R, Kannengiesser C, Hirschi S, Le Pavec J, Mal H, Bergot E, Jouneau S, Naccache JM, Revy P, Boutboul D, Peffault de la Tour R, Wemeau-Stervinou L, Philit F, Cordier JF, Thabut G, Crestani B, Cottin V; Groupe d’Etudes et de Recherche sur les Maladies “Orphelines” Pulmonaires (GERM“O”P). Borie R, et al. Among authors: kannengiesser c. J Heart Lung Transplant. 2015 Apr;34(4):538-46. doi: 10.1016/j.healun.2014.11.010. Epub 2014 Nov 13. J Heart Lung Transplant. 2015. PMID: 25612863 Free article.
Heterozygous RTEL1 mutations are associated with familial pulmonary fibrosis.
Kannengiesser C, Borie R, Ménard C, Réocreux M, Nitschké P, Gazal S, Mal H, Taillé C, Cadranel J, Nunes H, Valeyre D, Cordier JF, Callebaut I, Boileau C, Cottin V, Grandchamp B, Revy P, Crestani B. Kannengiesser C, et al. Eur Respir J. 2015 Aug;46(2):474-85. doi: 10.1183/09031936.00040115. Epub 2015 May 28. Eur Respir J. 2015. PMID: 26022962 Free article.
Lethal ALAS2 mutation in males X-linked sideroblastic anaemia.
Rose C, Callebaut I, Pascal L, Oudin C, Fournier M, Gouya L, Lambilliotte A, Kannengiesser C. Rose C, et al. Among authors: kannengiesser c. Br J Haematol. 2017 Aug;178(4):648-651. doi: 10.1111/bjh.14164. Epub 2016 Jun 13. Br J Haematol. 2017. PMID: 27292130 Free article. No abstract available.
Prevalence and characteristics of TERT and TERC mutations in suspected genetic pulmonary fibrosis.
Borie R, Tabèze L, Thabut G, Nunes H, Cottin V, Marchand-Adam S, Prevot G, Tazi A, Cadranel J, Mal H, Wemeau-Stervinou L, Bergeron Lafaurie A, Israel-Biet D, Picard C, Reynaud Gaubert M, Jouneau S, Naccache JM, Mankikian J, Ménard C, Cordier JF, Valeyre D, Reocreux M, Grandchamp B, Revy P, Kannengiesser C, Crestani B. Borie R, et al. Among authors: kannengiesser c. Eur Respir J. 2016 Dec;48(6):1721-1731. doi: 10.1183/13993003.02115-2015. Epub 2016 Nov 11. Eur Respir J. 2016. PMID: 27836952 Free article.
Shared genetic predisposition in rheumatoid arthritis-interstitial lung disease and familial pulmonary fibrosis.
Juge PA, Borie R, Kannengiesser C, Gazal S, Revy P, Wemeau-Stervinou L, Debray MP, Ottaviani S, Marchand-Adam S, Nathan N, Thabut G, Richez C, Nunes H, Callebaut I, Justet A, Leulliot N, Bonnefond A, Salgado D, Richette P, Desvignes JP, Lioté H, Froguel P, Allanore Y, Sand O, Dromer C, Flipo RM, Clément A, Béroud C, Sibilia J, Coustet B, Cottin V, Boissier MC, Wallaert B, Schaeverbeke T, Dastot le Moal F, Frazier A, Ménard C, Soubrier M, Saidenberg N, Valeyre D, Amselem S; FREX consortium; Boileau C, Crestani B, Dieudé P. Juge PA, et al. Among authors: kannengiesser c. Eur Respir J. 2017 May 11;49(5):1602314. doi: 10.1183/13993003.02314-2016. Print 2017 May. Eur Respir J. 2017. PMID: 28495692 Free article.
130 results