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Regulator of telomere length 1 (RTEL1) mutations are associated with heterogeneous pulmonary and extra-pulmonary phenotypes.
Borie R, Bouvry D, Cottin V, Gauvain C, Cazes A, Debray MP, Cadranel J, Dieude P, Degot T, Dominique S, Gamez AS, Jaillet M, Juge PA, Londono-Vallejo A, Mailleux A, Mal H, Boileau C, Menard C, Nunes H, Prevot G, Quetant S, Revy P, Traclet J, Wemeau-Stervinou L, Wislez M, Kannengiesser C, Crestani B. Borie R, et al. Among authors: kannengiesser c. Eur Respir J. 2019 Feb 7;53(2):1800508. doi: 10.1183/13993003.00508-2018. Print 2019 Feb. Eur Respir J. 2019. PMID: 30523160 Free article.
Pulmonary alveolar proteinosis revealing a telomerase disease.
Marchand-Adam S, Diot B, Magro P, De Muret A, Guignabert C, Kannengiesser C, Londono-Vallejo A, Draskovic I, Toutain A, Diot P. Marchand-Adam S, et al. Among authors: kannengiesser c. Am J Respir Crit Care Med. 2013 Aug 1;188(3):402-4. doi: 10.1164/rccm.201301-0010LE. Am J Respir Crit Care Med. 2013. PMID: 23905534 No abstract available.
The MUC5B variant is associated with idiopathic pulmonary fibrosis but not with systemic sclerosis interstitial lung disease in the European Caucasian population.
Borie R, Crestani B, Dieude P, Nunes H, Allanore Y, Kannengiesser C, Airo P, Matucci-Cerinic M, Wallaert B, Israel-Biet D, Cadranel J, Cottin V, Gazal S, Peljto AL, Varga J, Schwartz DA, Valeyre D, Grandchamp B. Borie R, et al. Among authors: kannengiesser c. PLoS One. 2013 Aug 5;8(8):e70621. doi: 10.1371/journal.pone.0070621. Print 2013. PLoS One. 2013. PMID: 23940607 Free PMC article. Review.
Familial pulmonary fibrosis.
Borie R, Kannengiesser C, Nathan N, Tabèze L, Pradère P, Crestani B. Borie R, et al. Among authors: kannengiesser c. Rev Mal Respir. 2015 Apr;32(4):413-34. doi: 10.1016/j.rmr.2014.07.017. Epub 2014 Nov 5. Rev Mal Respir. 2015. PMID: 25596800 Review.
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.
139 results