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Items: 1 to 50 of 74

1.

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 Oct 20. doi: 10.1056/NEJMoa1801562. [Epub ahead of print]

PMID:
30345907
2.

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
3.

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.

4.

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
5.

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
6.

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
7.

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.

PMID:
29167304
8.

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.

9.

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
10.

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
11.

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.

12.

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.

13.

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.

14.

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.

15.

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.

Eur Respir J. 2016 Dec;48(6):1721-1731. doi: 10.1183/13993003.02115-2015. Epub 2016 Nov 11.

16.

Reply.

Karim Z, Puy H, Beaumont C, Gouya L, Kannengiesser C.

Gastroenterology. 2016 Oct;151(4):771-2. doi: 10.1053/j.gastro.2016.09.002. Epub 2016 Sep 10. No abstract available.

PMID:
27623323
17.

Severe Pulmonary Fibrosis as the First Manifestation of Interferonopathy (TMEM173 Mutation).

Picard C, Thouvenin G, Kannengiesser C, Dubus JC, Jeremiah N, Rieux-Laucat F, Crestani B, Belot A, Thivolet-Béjui F, Secq V, Ménard C, Reynaud-Gaubert M, Reix P.

Chest. 2016 Sep;150(3):e65-71. doi: 10.1016/j.chest.2016.02.682.

PMID:
27613991
18.

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.

Br J Haematol. 2017 Aug;178(4):648-651. doi: 10.1111/bjh.14164. Epub 2016 Jun 13. No abstract available.

PMID:
27292130
19.

Mutations of the RTEL1 Helicase in a Hoyeraal-Hreidarsson Syndrome Patient Highlight the Importance of the ARCH Domain.

Jullien L, Kannengiesser C, Kermasson L, Cormier-Daire V, Leblanc T, Soulier J, Londono-Vallejo A, de Villartay JP, Callebaut I, Revy P.

Hum Mutat. 2016 May;37(5):469-72. doi: 10.1002/humu.22966. Epub 2016 Feb 23.

PMID:
26847928
20.

Germline SFTPA1 mutation in familial idiopathic interstitial pneumonia and lung cancer.

Nathan N, Giraud V, Picard C, Nunes H, Dastot-Le Moal F, Copin B, Galeron L, De Ligniville A, Kuziner N, Reynaud-Gaubert M, Valeyre D, Couderc LJ, Chinet T, Borie R, Crestani B, Simansour M, Nau V, Tissier S, Duquesnoy P, Mansour-Hendili L, Legendre M, Kannengiesser C, Coulomb-L'Hermine A, Gouya L, Amselem S, Clement A.

Hum Mol Genet. 2016 Apr 15;25(8):1457-67. doi: 10.1093/hmg/ddw014. Epub 2016 Jan 19.

PMID:
26792177
21.

PARKIN Inactivation Links Parkinson's Disease to Melanoma.

Hu HH, Kannengiesser C, Lesage S, André J, Mourah S, Michel L, Descamps V, Basset-Seguin N, Bagot M, Bensussan A, Lebbé C, Deschamps L, Saiag P, Leccia MT, Bressac-de-Paillerets B, Tsalamlal A, Kumar R, Klebe S, Grandchamp B, Andrieu-Abadie N, Thomas L, Brice A, Dumaz N, Soufir N.

J Natl Cancer Inst. 2015 Dec 17;108(3). doi: 10.1093/jnci/djv340. Print 2016 Mar.

PMID:
26683220
22.

Heterozygous Mutations in BMP6 Pro-peptide Lead to Inappropriate Hepcidin Synthesis and Moderate Iron Overload in Humans.

Daher R, Kannengiesser C, Houamel D, Lefebvre T, Bardou-Jacquet E, Ducrot N, de Kerguenec C, Jouanolle AM, Robreau AM, Oudin C, Le Gac G, Moulouel B, Loustaud-Ratti V, Bedossa P, Valla D, Gouya L, Beaumont C, Brissot P, Puy H, Karim Z, Tchernitchko D.

Gastroenterology. 2016 Mar;150(3):672-683.e4. doi: 10.1053/j.gastro.2015.10.049. Epub 2015 Nov 12.

23.

Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations.

Mercier S, Küry S, Salort-Campana E, Magot A, Agbim U, Besnard T, Bodak N, Bou-Hanna C, Bréhéret F, Brunelle P, Caillon F, Chabrol B, Cormier-Daire V, David A, Eymard B, Faivre L, Figarella-Branger D, Fleurence E, Ganapathi M, Gherardi R, Goldenberg A, Hamel A, Igual J, Irvine AD, Israël-Biet D, Kannengiesser C, Laboisse C, Le Caignec C, Mahé JY, Mallet S, MacGowan S, McAleer MA, McLean I, Méni C, Munnich A, Mussini JM, Nagy PL, Odel J, O'Regan GM, Péréon Y, Perrier J, Piard J, Puzenat E, Sampson JB, Smith F, Soufir N, Tanji K, Thauvin C, Ulane C, Watson RM, Khumalo NP, Mayosi BM, Barbarot S, Bézieau S.

Orphanet J Rare Dis. 2015 Oct 15;10:135. doi: 10.1186/s13023-015-0352-4.

24.

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.

Eur Respir J. 2015 Aug;46(2):474-85. doi: 10.1183/09031936.00040115. Epub 2015 May 28.

25.

[Treatment of alveolar proteinosis by intrapulmonary transplantation of macrophages].

Borie R, Danel C, Lainé C, Kannengiesser C, Crestani B.

Med Sci (Paris). 2015 Mar;31(3):241-4. doi: 10.1051/medsci/20153103005. Epub 2015 Apr 8. French. No abstract available.

26.

LC-MS/MS method for hepcidin-25 measurement in human and mouse serum: clinical and research implications in iron disorders.

Lefebvre T, Dessendier N, Houamel D, Ialy-Radio N, Kannengiesser C, Manceau H, Beaumont C, Nicolas G, Gouya L, Puy H, Karim Z.

Clin Chem Lab Med. 2015 Sep 1;53(10):1557-67. doi: 10.1515/cclm-2014-1093.

PMID:
25781546
27.

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).

J Heart Lung Transplant. 2015 Apr;34(4):538-46. doi: 10.1016/j.healun.2014.11.010. Epub 2014 Nov 13.

28.

Familial pulmonary fibrosis.

Borie R, Kannengiesser C, Nathan N, Tabèze L, Pradère P, Crestani B.

Rev Mal Respir. 2015 Apr;32(4):413-34. doi: 10.1016/j.rmr.2014.07.017. Epub 2014 Nov 5. Review.

PMID:
25596800
29.

Novel microdeletions affecting the GNAS locus in pseudohypoparathyroidism: characterization of the underlying mechanisms.

Garin I, Elli FM, Linglart A, Silve C, de Sanctis L, Bordogna P, Pereda A, Clarke JT, Kannengiesser C, Coutant R, Tenebaum-Rakover Y, Admoni O, de Nanclares GP, Mantovani G.

J Clin Endocrinol Metab. 2015 Apr;100(4):E681-7. doi: 10.1210/jc.2014-3098. Epub 2015 Jan 16.

30.

Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD).

Chakraborty PK, Schmitz-Abe K, Kennedy EK, Mamady H, Naas T, Durie D, Campagna DR, Lau A, Sendamarai AK, Wiseman DH, May A, Jolles S, Connor P, Powell C, Heeney MM, Giardina PJ, Klaassen RJ, Kannengiesser C, Thuret I, Thompson AA, Marques L, Hughes S, Bonney DK, Bottomley SS, Wynn RF, Laxer RM, Minniti CP, Moppett J, Bordon V, Geraghty M, Joyce PB, Markianos K, Rudner AD, Holcik M, Fleming MD.

Blood. 2014 Oct 30;124(18):2867-71. doi: 10.1182/blood-2014-08-591370. Epub 2014 Sep 5.

31.

Functional and clinical impact of novel TMPRSS6 variants in iron-refractory iron-deficiency anemia patients and genotype-phenotype studies.

De Falco L, Silvestri L, Kannengiesser C, Morán E, Oudin C, Rausa M, Bruno M, Aranda J, Argiles B, Yenicesu I, Falcon-Rodriguez M, Yilmaz-Keskin E, Kocak U, Beaumont C, Camaschella C, Iolascon A, Grandchamp B, Sanchez M.

Hum Mutat. 2014 Nov;35(11):1321-9. doi: 10.1002/humu.22632. Epub 2014 Sep 10.

PMID:
25156943
32.

Pulmonary fibrosis associated with TINF2 gene mutation: is somatic reversion required?

Kannengiesser C, Borie R, Revy P.

Eur Respir J. 2014 Jul;44(1):269-70. doi: 10.1183/09031936.00038714. No abstract available.

33.

Evidence for different expression profiles for c-Met, EGFR, PTEN and the mTOR pathway in low and high grade endometrial carcinomas in a cohort of consecutive women. Occurrence of PIK3CA and K-Ras mutations and microsatellite instability.

Thoury A, Descatoire V, Kotelevets L, Kannengiesser C, Bertrand G, Theou-Anton N, Frey C, Genestie C, Raymond E, Chastre E, Lehy T, Walker F.

Histol Histopathol. 2014 Nov;29(11):1455-66. doi: 10.14670/HH-29.1455. Epub 2014 May 8.

PMID:
24811063
34.

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.

Hum Mol Genet. 2014 Sep 1;23(17):4479-90. doi: 10.1093/hmg/ddu160. Epub 2014 Apr 8.

PMID:
24714983
35.

A double red cells population in a woman with a microcytic anemia.

Garçon L, Kannengiesser C.

Blood. 2014 Feb 6;123(6):808. No abstract available.

36.

Is telomeropathy the explanation for combined pulmonary fibrosis and emphysema syndrome?: report of a family with TERT mutation.

Nunes H, Monnet I, Kannengiesser C, Uzunhan Y, Valeyre D, Kambouchner M, Naccache JM.

Am J Respir Crit Care Med. 2014 Mar 15;189(6):753-4. doi: 10.1164/rccm.201309-1724LE. No abstract available.

PMID:
24628319
37.

A new family with hereditary hyperferritinemia cataract syndrome.

Tuysuz G, Ozdemir N, Sonmez E, Kannengiesser C, Celkan T.

Genet Couns. 2013;24(4):393-7.

PMID:
24551982
38.

RHOXF2 gene, a new candidate gene for spermatogenesis failure.

Frainais C, Kannengiesser C, Albert M, Molina-Gomes D, Boitrelle F, Bailly M, Grandchamp B, Selva J, Vialard F.

Basic Clin Androl. 2014 Feb 10;24:3. doi: 10.1186/2051-4190-24-3. eCollection 2014.

39.

X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA-binding site mutations.

Campagna DR, de Bie CI, Schmitz-Abe K, Sweeney M, Sendamarai AK, Schmidt PJ, Heeney MM, Yntema HG, Kannengiesser C, Grandchamp B, Niemeyer CM, Knoers NV, Swart S, Marron G, van Wijk R, Raymakers RA, May A, Markianos K, Bottomley SS, Swinkels DW, Fleming MD.

Am J Hematol. 2014 Mar;89(3):315-9. doi: 10.1002/ajh.23616. Epub 2013 Nov 20. Erratum in: Am J Hematol. 2014 Jun;89(6):670.

40.

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.

PLoS One. 2013 Aug 5;8(8):e70621. doi: 10.1371/journal.pone.0070621. Print 2013. Review.

41.

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.

Am J Respir Crit Care Med. 2013 Aug 1;188(3):402-4. doi: 10.1164/rccm.201301-0010LE. No abstract available.

PMID:
23905534
42.

Iron refractory iron deficiency anemia.

De Falco L, Sanchez M, Silvestri L, Kannengiesser C, Muckenthaler MU, Iolascon A, Gouya L, Camaschella C, Beaumont C.

Haematologica. 2013 Jun;98(6):845-53. doi: 10.3324/haematol.2012.075515. Review.

43.

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.

Br J Haematol. 2013 Jul;162(2):278-81. doi: 10.1111/bjh.12350. Epub 2013 Apr 18. No abstract available.

PMID:
23600741
44.

A novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD).

Wiseman DH, May A, Jolles S, Connor P, Powell C, Heeney MM, Giardina PJ, Klaassen RJ, Chakraborty P, Geraghty MT, Major-Cook N, Kannengiesser C, Thuret I, Thompson AA, Marques L, Hughes S, Bonney DK, Bottomley SS, Fleming MD, Wynn RF.

Blood. 2013 Jul 4;122(1):112-23. doi: 10.1182/blood-2012-08-439083. Epub 2013 Apr 3.

45.

Wilms' tumor in patients with 9q22.3 microdeletion syndrome suggests a role for PTCH1 in nephroblastomas.

Isidor B, Bourdeaut F, Lafon D, Plessis G, Lacaze E, Kannengiesser C, Rossignol S, Pichon O, Briand A, Martin-Coignard D, Piccione M, David A, Delattre O, Jeanpierre C, Sévenet N, Le Caignec C.

Eur J Hum Genet. 2013 Jul;21(7):784-7. doi: 10.1038/ejhg.2012.252. Epub 2012 Nov 21.

46.

Familial forms of nonspecific interstitial pneumonia/idiopathic pulmonary fibrosis: clinical course and genetic background.

Borie R, Kannengiesser C, Crestani B.

Curr Opin Pulm Med. 2012 Sep;18(5):455-61. doi: 10.1097/MCP.0b013e328356b15c. Review.

PMID:
22781209
47.

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.

Hum Mutat. 2012 Sep;33(9):1388-96. doi: 10.1002/humu.22116. Epub 2012 May 30.

48.

Two novel mutations in the L ferritin coding sequence associated with benign hyperferritinaemia unmasked by glycosylated ferritin assay.

Thurlow V, Vadher B, Bomford A, DeLord C, Kannengiesser C, Beaumont C, Grandchamp B.

Ann Clin Biochem. 2012 May;49(Pt 3):302-5. doi: 10.1258/acb.2011.011229. Epub 2012 Apr 25.

PMID:
22535864
49.

A novel type of congenital hypochromic anemia associated with a nonsense mutation in the STEAP3/TSAP6 gene.

Grandchamp B, Hetet G, Kannengiesser C, Oudin C, Beaumont C, Rodrigues-Ferreira S, Amson R, Telerman A, Nielsen P, Kohne E, Balser C, Heimpel H.

Blood. 2011 Dec 15;118(25):6660-6. doi: 10.1182/blood-2011-01-329011. Epub 2011 Oct 26.

50.

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.

Pediatr Diabetes. 2011 May;12(3 Pt 1):187-91. doi: 10.1111/j.1399-5448.2010.00679.x. Epub 2010 Sep 7.

PMID:
21518408

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