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Items: 1 to 20 of 75

1.

Resequencing Study Confirms Host Defense and Cell Senescence Gene Variants Contribute to the Risk of Idiopathic Pulmonary Fibrosis.

Moore C, Blumhagen RZ, Yang IV, Walts A, Powers J, Walker T, Bishop M, Russell P, Vestal B, Cardwell J, Markin CR, Mathai SK, Schwarz MI, Steele MP, Lee J, Brown KK, Loyd JE, Crapo JD, Silverman EK, Cho MH, James JA, Guthridge JM, Cogan JD, Kropski JA, Swigris JJ, Bair C, Soon Kim D, Ji W, Kim H, Song JW, Maier LA, Pacheco KA, Hirani N, Poon AS, Li F, Jenkins RG, Braybrooke R, Saini G, Maher TM, Molyneaux PL, Saunders P, Zhang Y, Gibson KF, Kass DJ, Rojas M, Sembrat J, Wolters PJ, Collard HR, Sundy JS, O'Riordan T, Strek ME, Noth I, Ma SF, Porteous MK, Kreider ME, Patel NB, Inoue Y, Hirose M, Arai T, Akagawa S, Eickelberg O, Fernandez IE, Behr J, Mogulkoc N, Corte TJ, Glaspole I, Tomassetti S, Ravaglia C, Poletti V, Crestani B, Borie R, Kannengiesser C, Parfrey H, Fiddler C, Rassl D, Molina-Molina M, Machahua C, Montes Worboys A, Gudmundsson G, Isaksson HJ, Lederer DJ, Podolanczuk AJ, Montesi SB, Bendstrup E, Danchel V, Selman M, Pardo A, Henry MT, Keane MP, Doran P, Vašáková M, Sterclova M, Ryerson CJ, Wilcox PG, Okamoto T, Furusawa H, Miyazaki Y, Laurent G, Baltic S, Prele C, Moodley Y, Shea BS, Ohta K, Suzukawa M, Narumoto O, Nathan SD, Venuto DC, Woldehanna ML, Kokturk N, de Andrade JA, Luckhardt T, Kulkarni T, Bonella F, Donnelly SC, McElroy A, Armstrong ME, Aranda A, Carbone RG, Puppo F, Beckman KB, Nickerson DA, Fingerlin TE, Schwartz DA.

Am J Respir Crit Care Med. 2019 Apr 29. doi: 10.1164/rccm.201810-1891OC. [Epub ahead of print]

PMID:
31034279
2.

A Novel Heterozygous Deletion Variant in KLOTHO Gene Leading to Haploinsufficiency and Impairment of Fibroblast Growth Factor 23 Signaling Pathway.

Martín-Núñez E, Donate-Correa J, Kannengiesser C, De Brauwere DP, Leroy C, Oudin C, Friedlander G, Prieto-Morín C, Tagua VG, Ureña-Torres PA, Navarro-González JF.

J Clin Med. 2019 Apr 12;8(4). pii: E500. doi: 10.3390/jcm8040500.

3.

GLRX5 mutations impair heme biosynthetic enzymes ALA synthase 2 and ferrochelatase in Human congenital sideroblastic anemia.

Daher R, Mansouri A, Martelli A, Bayart S, Manceau H, Callebaut I, Moulouel B, Gouya L, Puy H, Kannengiesser C, Karim Z.

Mol Genet Metab. 2019 Jan 7. pii: S1096-7192(18)30633-4. doi: 10.1016/j.ymgme.2018.12.012. [Epub ahead of print]

PMID:
30660387
4.

Genetic diagnosis of primary immunodeficiencies: A survey of the French national registry.

Mahlaoui N, Picard C, Bach P, Costes L, Courteille V, Ranohavimparany A, Alcaïs A, Jais JP, Fischer A; CEREDIH French PID study group.

J Allergy Clin Immunol. 2019 Apr;143(4):1646-1649.e10. doi: 10.1016/j.jaci.2018.12.994. Epub 2019 Jan 9. No abstract available.

PMID:
30639347
5.

Pulmonary fibrosis: Genetic analysis of telomere-related genes, telomere length measurement-or both?

Kannengiesser C, Borie R, Renzoni EA.

Respirology. 2019 Feb;24(2):97-98. doi: 10.1111/resp.13456. Epub 2018 Dec 17. No abstract available.

6.

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.

Eur Respir J. 2019 Feb 7;53(2). pii: 1800508. doi: 10.1183/13993003.00508-2018. Print 2019 Feb.

PMID:
30523160
7.

MUC5B Promoter Variant and Rheumatoid Arthritis with Interstitial Lung Disease.

Juge PA, Lee JS, Ebstein E, Furukawa H, Dobrinskikh E, Gazal S, Kannengiesser C, Ottaviani S, Oka S, Tohma S, Tsuchiya N, Rojas-Serrano J, González-Pérez MI, Mejía M, Buendía-Roldán I, Falfán-Valencia R, Ambrocio-Ortiz E, Manali E, Papiris SA, Karageorgas T, Boumpas D, Antoniou K, van Moorsel CHM, van der Vis J, de Man YA, Grutters JC, Wang Y, Borie R, Wemeau-Stervinou L, Wallaert B, Flipo RM, Nunes H, Valeyre D, Saidenberg-Kermanac'h N, Boissier MC, Marchand-Adam S, Frazier A, Richette P, Allanore Y, Sibilia J, Dromer C, Richez C, Schaeverbeke T, Lioté H, Thabut G, Nathan N, Amselem S, Soubrier M, Cottin V, Clément A, Deane K, Walts AD, Fingerlin T, Fischer A, Ryu JH, Matteson EL, Niewold TB, Assayag D, Gross A, Wolters P, Schwarz MI, Holers M, Solomon JJ, Doyle T, Rosas IO, Blauwendraat C, Nalls MA, Debray MP, Boileau C, Crestani B, Schwartz DA, Dieudé P.

N Engl J Med. 2018 Dec 6;379(23):2209-2219. doi: 10.1056/NEJMoa1801562. Epub 2018 Oct 20.

PMID:
30345907
8.

New splicing pathogenic variant in EBP causing extreme familial variability of Conradi-Hünermann-Happle Syndrome.

Pacault M, Vincent M, Besnard T, Kannengiesser C, Bénéteau C, Barbarot S, Latypova X, Belabbas K, Lamazière A, Winer N, Joubert M, Bézieau S, Isidor B, Mercier S, Nizon M, Leclerc-Mercier S, Hadj-Rabia S, Dufernez F.

Eur J Hum Genet. 2018 Dec;26(12):1784-1790. doi: 10.1038/s41431-018-0217-0. Epub 2018 Aug 22.

PMID:
30135486
9.

The SLC40A1 R178Q mutation is a recurrent cause of hemochromatosis and is associated with a novel pathogenic mechanism.

Ka C, Guellec J, Pepermans X, Kannengiesser C, Ged C, Wuyts W, Cassiman D, de Ledinghen V, Varet B, de Kerguenec C, Oudin C, Gourlaouen I, Lefebvre T, Férec C, Callebaut I, Le Gac G.

Haematologica. 2018 Nov;103(11):1796-1805. doi: 10.3324/haematol.2018.189845. Epub 2018 Jul 12.

10.

Aspergillus-induced pneumonia in adult without obvious immunodeficiency: test the burst!

Flament H, Granger V, Vezinet C, Marzaioli V, Kannengiesser C, de Chaisemartin L, Hurtado-Nedelec M, Litvinova E, Messika J, Adam N, Gougerot-Pocidalo MA, Dang PM, Monteiro R, El Benna J, Langeron O, Chollet-Martin S, Monsel A.

Eur Respir J. 2018 Apr 26;51(4). pii: 1702711. doi: 10.1183/13993003.02711-2017. Print 2018 Apr. No abstract available.

PMID:
29496757
11.

Donor Club Cell Secretory Protein G38A Polymorphism Is Associated With a Decreased Risk of Primary Graft Dysfunction in the French Cohort in Lung Transplantation.

Hin A, Kannengiesser C, Roussel A, Renaud-Picard B, Roux A, Reynaud-Gaubert M, Claustre J, Tissot A, Guillemain R, Mornex JF, Mussot S, Dromer C, Dahan M, Brugière O, Mercier O, Borie R, Pretolani M, Castier Y, Mordant P; COLT Consortium.

Transplantation. 2018 Aug;102(8):1382-1390. doi: 10.1097/TP.0000000000002143.

PMID:
29470356
12.

Safety and efficacy of pirfenidone in patients carrying telomerase complex mutation.

Justet A, Thabut G, Manali E, Molina Molina M, Kannengiesser C, Cadranel J, Cottin V, Gondouin A, Nunes H, Magois E, Tromeur C, Prevot G, Papiris S, Marchand-Adam S, Gamez AS, Reynaud-Gaubert M, Wemeau L, Crestani B, Borie R.

Eur Respir J. 2018 Mar 15;51(3). pii: 1701875. doi: 10.1183/13993003.01875-2017. Print 2018 Mar. No abstract available.

PMID:
29449422
13.

Pneumocystosis revealing immunodeficiency secondary to TERC mutation.

Borie R, Kannengiesser C, Sicre de Fontbrune F, Boutboul D, Tabeze L, Brunet-Possenti F, Lainey E, Debray MP, Cazes A, Crestani B.

Eur Respir J. 2017 Nov 22;50(5). pii: 1701443. doi: 10.1183/13993003.01443-2017. Print 2017 Nov. No abstract available.

14.

Mutation in human CLPX elevates levels of δ-aminolevulinate synthase and protoporphyrin IX to promote erythropoietic protoporphyria.

Yien YY, Ducamp S, van der Vorm LN, Kardon JR, Manceau H, Kannengiesser C, Bergonia HA, Kafina MD, Karim Z, Gouya L, Baker TA, Puy H, Phillips JD, Nicolas G, Paw BH.

Proc Natl Acad Sci U S A. 2017 Sep 19;114(38):E8045-E8052. doi: 10.1073/pnas.1700632114. Epub 2017 Sep 5.

15.

Non syndromic childhood onset congenital sideroblastic anemia: A report of 13 patients identified with an ALAS2 or SLC25A38 mutation.

Le Rouzic MA, Fouquet C, Leblanc T, Touati M, Fouyssac F, Vermylen C, Jäkel N, Guichard JF, Maloum K, Toutain F, Lutz P, Perel Y, Manceau H, Kannengiesser C, Vannier JP.

Blood Cells Mol Dis. 2017 Jul;66:11-18. doi: 10.1016/j.bcmd.2017.07.003. Epub 2017 Jul 26.

PMID:
28772256
16.

The Genetic Diagnosis of Interstitial Lung Disease: A Need for an International Consensus.

Borie R, Kannengiesser C, Debray MP, Crestani B.

Am J Respir Crit Care Med. 2017 Jun 1;195(11):1538-1539. doi: 10.1164/rccm.201611-2209LE. No abstract available.

PMID:
28569587
17.

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.

Eur Respir J. 2017 May 11;49(5). pii: 1602314. doi: 10.1183/13993003.02314-2016. Print 2017 May.

18.

Pleuroparenchymal fibroelastosis associated with telomerase reverse transcriptase mutations.

Nunes H, Jeny F, Bouvry D, Picard C, Bernaudin JF, Ménard C, Brillet PY, Kannengiesser C, Valeyre D, Kambouchner M.

Eur Respir J. 2017 May 11;49(5). pii: 1602022. doi: 10.1183/13993003.02022-2016. Print 2017 May. No abstract available.

19.

Management of suspected monogenic lung fibrosis in a specialised centre.

Borie R, Kannengiesser C, Sicre de Fontbrune F, Gouya L, Nathan N, Crestani B.

Eur Respir Rev. 2017 Apr 26;26(144). pii: 160122. doi: 10.1183/16000617.0122-2016. Print 2017 Jun 30. Review.

20.

Extended clinical and genetic spectrum associated with biallelic RTEL1 mutations.

Touzot F, Kermasson L, Jullien L, Moshous D, Ménard C, Ikincioğullari A, Doğu F, Sari S, Giacobbi-Milet V, Etzioni A, Soulier J, Londono-Vallejo A, Fischer A, Callebaut I, de Villartay JP, Leblanc T, Kannengiesser C, Revy P.

Blood Adv. 2016 Nov 22;1(1):36-46. doi: 10.1182/bloodadvances.2016001313. eCollection 2016 Nov 29.

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