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Hydroxychloroquine in children with interstitial (diffuse parenchymal) lung diseases.

Braun S, Ferner M, Kronfeld K, Griese M.

Pediatr Pulmonol. 2014 Dec 9. doi: 10.1002/ppul.23133. [Epub ahead of print]

 

Characterization of CSF2RA mutation related juvenile pulmonary alveolar proteinosis.

Hildebrandt J, Yalcin E, Bresser HG, Cinel G, Gappa M, Haghighi A, Kiper N, Khalilzadeh S, Reiter K, Sayer J, Schwerk N, Sibbersen A, Van Daele S, Nübling G, Lohse P, Griese M.

Orphanet J Rare Dis. 2014 Nov 26;9(1):171. [Epub ahead of print]

 

Pulmonary alveolar proteinosis in children on La Réunion Island: a new inherited disorder?

Enaud L, Hadchouel A, Coulomb A, Berteloot L, Lacaille F, Boccon-Gibod L, Boulay V, Darcel F, Griese M, Linard M, Louha M, Renouil M, Rivière JP, Toupance B, Verkarre V, Delacourt C, de Blic J.

Orphanet J Rare Dis. 2014 Jun 14;9:85. doi: 10.1186/1750-1172-9-85.

 

Long-term inhaled granulocyte macrophage-colony-stimulating factor in autoimmune pulmonary alveolar proteinosis: effectiveness, safety, and lowest effective dose.

Papiris SA, Tsirigotis P, Kolilekas L, Papadaki G, Papaioannou AI, Triantafillidou C, Papaporfyriou A, Karakatsani A, Kagouridis K, Griese M, Manali ED.

Clin Drug Investig. 2014 Aug;34(8):553-64. doi: 10.1007/s40261-014-0208-z.

 

A large kindred of pulmonary fibrosis associated with a novel ABCA3 gene variant.

Campo I, Zorzetto M, Mariani F, Kadija Z, Morbini P, Dore R, Kaltenborn E, Frixel S, Zarbock R, Liebisch G, Hegermann J, Wrede C, Griese M, Luisetti M.

Respir Res. 2014 Apr 15;15:43. doi: 10.1186/1465-9921-15-43.

 

Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum.

Thorwarth A, Schnittert-Hübener S, Schrumpf P, Müller I, Jyrch S, Dame C, Biebermann H, Kleinau G, Katchanov J, Schuelke M, Ebert G, Steininger A, Bönnemann C, Brockmann K, Christen HJ, Crock P, deZegher F, Griese M, Hewitt J, Ivarsson S, Hübner C, Kapelari K, Plecko B, Rating D, Stoeva I, Ropers HH, Grüters A, Ullmann R, Krude H.

J Med Genet. 2014 Jun;51(6):375-87. doi: 10.1136/jmedgenet-2013-102248. Epub 2014 Apr 8.

 

Successful weaning from mechanical ventilation in a patient with surfactant protein C deficiency presenting with severe neonatal respiratory distress.

van Hoorn J, Brouwers A, Griese M, Kramer B.

BMJ Case Rep. 2014 Mar 19;2014. pii: bcr2013203053. doi: 10.1136/bcr-2013-203053.

 

Neonatal respiratory insufficiency caused by an (homozygous) ABCA3-stop mutation: a systematic evaluation of therapeutic options.

Winter J, Essmann S, Kidszun A, Aslanidis C, Griese M, Poplawska K, Bartsch M, Schmitz G, Mildenberger E.

Klin Padiatr. 2014 Apr;226(2):53-8. doi: 10.1055/s-0033-1363687. Epub 2014 Mar 14. Review.

 

Hypersensitivity pneumonitis: lessons for diagnosis and treatment of a rare entity in children.

Griese M, Haug M, Hartl D, Teusch V, Glöckner-Pagel J, Brasch F; National EAA Study Group.

Orphanet J Rare Dis. 2013 Aug 8;8:121. doi: 10.1186/1750-1172-8-121.

 

Successful treatment of neonatal respiratory failure caused by a novel surfactant protein C p.Cys121Gly mutation with hydroxychloroquine.

Hepping N, Griese M, Lohse P, Garbe W, Lange L.

J Perinatol. 2013 Jun;33(6):492-4. doi: 10.1038/jp.2012.131.

 

SFTPC mutations cause SP-C degradation and aggregate formation without increasing ER stress.

Thurm T, Kaltenborn E, Kern S, Griese M, Zarbock R.

Eur J Clin Invest. 2013 Aug;43(8):791-800. doi: 10.1111/eci.12107. Epub 2013 May 24.

 

Serum KL-6 is a predictor of outcome in pulmonary alveolar proteinosis.

Bonella F, Ohshimo S, Miaotian C, Griese M, Guzman J, Costabel U.

Orphanet J Rare Dis. 2013 Apr 4;8:53. doi: 10.1186/1750-1172-8-53.

    

The risk of hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type 2.

Jessen B, Bode SF, Ammann S, Chakravorty S, Davies G, Diestelhorst J, Frei-Jones M, Gahl WA, Gochuico BR, Griese M, Griffiths G, Janka G, Klein C, Kögl T, Kurnik K, Lehmberg K, Maul-Pavicic A, Mumford AD, Pace D, Parvaneh N, Rezaei N, de Saint Basile G, Schmitt-Graeff A, Schwarz K, Karasu GT, Zieger B, Zur Stadt U, Aichele P, Ehl S.

Blood. 2013 Apr 11;121(15):2943-51. doi: 10.1182/blood-2012-10-463166. Epub 2013 Feb 12.

       

Research in progress: put the orphanage out of business.

Andrew Bush, Gisela Anthony, Angelo Barbato, Steve Cunningham, Annick Clement, R Epaud, Carlee Gilbert, Lutz Goldbeck, Kai Kronfeld, Andrew G Nicholson, Nicolaus Schwerk, Matthias Griese, on behalf of the ch-ILD collaborators

Thorax Online First, published on February 21, 2013 as 10.1136/thoraxjnl-2012-203201