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Author/Creator Duquesnoy, Philippe

1. Brief Report: Involvement of TNFRSF11A Molecular Defects in Autoinflammatory Disorders. Issue 9 (September 2014)

Authors:
Jéru, Isabelle; Cochet, Emmanuelle; Duquesnoy, Philippe; Hentgen, Véronique; Copin, Bruno; Mitjavila‐Garcia, Maria Teresa; Sheykholeslami, Shayan; Le Borgne, Gaëlle; Dastot‐Le Moal, Florence; Malan, Valérie; Karabina, Sonia; Mahevas, Mathieu; Chantot‐Bastaraud, Sandra; Lecron, Jean‐Claude; Faivre...
Journal:
Arthritis & rheumatology
Issue:
Volume 66:Issue 9(2014)
Page Start:
2621
Record Type:
Journal Article
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2. Characterization of SLC26A9 in Patients with CF‐Like Lung Disease. Issue 10 (13th August 2013)

Authors:
Bakouh, Naziha; Bienvenu, Thierry; Thomas, Annick; Ehrenfeld, Jordi; Liote, Huguette; Roussel, Delphine; Duquesnoy, Philippe; Farman, Nicolette; Viel, Marion; Cherif‐Zahar, Baya; Amselem, Serge; Taam, Rola Abou; Edelman, Aleksander; Planelles, Gabrielle; Sermet‐Gaudelus, Isabelle
Journal:
Human mutation
Issue:
Volume 34:Issue 10(2013:Oct.)
Page Start:
1404
Record Type:
Journal Article
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3. Contribution of functionally assessed GHRHR mutations to idiopathic isolated growth hormone deficiency in patients without GH1 mutations. Issue 11 (6th August 2019)

Authors:
Cohen, Enzo; Belkacem, Sabrina; Fedala, Soumeya; Collot, Nathalie; Khallouf, Eliane; Dastot, Florence; Polak, Michel; Duquesnoy, Philippe; Brioude, Frederic; Rose, Sophie; Viot, Géraldine; Soleyan, Aude; Carel, Jean‐Claude; Sobrier, Marie‐Laure; Chanson, Philippe; Gatelais, Frédérique; Heinrichs,...
Journal:
Human mutation
Issue:
Volume 40:Issue 11(2019)
Page Start:
2033
Record Type:
Journal Article
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4. Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia. Issue 6 (12th June 2012)

Authors:
Blanchon, Sylvain; Legendre, Marie; Copin, Bruno; Duquesnoy, Philippe; Montantin, Guy; Kott, Esther; Dastot, Florence; Jeanson, Ludovic; Cachanado, Marine; Rousseau, Alexandra; Papon, Jean François; Beydon, Nicole; Brouard, Jacques; Crestani, Bruno; Deschildre, Antoine; Désir, Julie; Dollfus, Hél...
Journal:
Journal of medical genetics
Issue:
Volume 49:Issue 6(2012)
Page Start:
410
Record Type:
Journal Article
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5. Functional assessment and phenotypic heterogeneity of SFTPA1 and SFTPA2 mutations in interstitial lung diseases and lung cancer. Issue 6 (24th December 2020)

Authors:
Legendre, Marie; Butt, Afifaa; Borie, Raphaël; Debray, Marie-Pierre; Bouvry, Diane; Filhol-Blin, Emilie; Desroziers, Tifenn; Nau, Valérie; Copin, Bruno; Dastot-Le Moal, Florence; Héry, Mélanie; Duquesnoy, Philippe; Allou, Nathalie; Bergeron, Anne; Bermudez, Julien; Cazes, Aurélie; Chene, Anne-Lau...
Journal:
European respiratory journal
Issue:
Volume 56:Issue 6(2020)
Page Start:
Record Type:
Journal Article
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6. Mutations in GAS8, a Gene Encoding a Nexin‐Dynein Regulatory Complex Subunit, Cause Primary Ciliary Dyskinesia with Axonemal Disorganization. Issue 8 (12th May 2016)

Authors:
Jeanson, Ludovic; Thomas, Lucie; Copin, Bruno; Coste, André; Sermet‐Gaudelus, Isabelle; Dastot‐Le Moal, Florence; Duquesnoy, Philippe; Montantin, Guy; Collot, Nathalie; Tissier, Sylvie; Papon, Jean‐François; Clement, Annick; Louis, Bruno; Escudier, Estelle; Amselem, Serge; Legendre, Marie
Journal:
Human mutation
Issue:
Volume 37:Issue 8(2016)
Page Start:
776
Record Type:
Journal Article
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8. The NLRP3 p.A441V Mutation in NLRP3‐AID Pathogenesis: Functional Consequences, Phenotype‐Genotype Correlations and Evidence for a Recurrent Mutational Event. Issue 4 (6th June 2019)

Authors:
Awad, Fawaz; Assrawi, Eman; Jumeau, Claire; Odent, Sylvie; Despert, Veronique; Cam, Gérard; Perdriger, Aleth; Louvrier, Camille; Cobret, Laetitia; Copin, Bruno; Chantot‐Bastaraud, Sandra; Duquesnoy, Philippe; Piterboth, William; Le Jeunne, Claire; Quenum‐Miraillet, Genevieve; Siffroi, Jean Pierre...
Journal:
ACR open rheumatology
Issue:
Volume 1:Issue 4(2019)
Page Start:
267
Record Type:
Journal Article
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