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Altérations de l'expression de la protéine A du surfactant dans les pneumopathies interstitielles diffuses

Nadia Moulin Nathan
Génétique humaine. Université Pierre et Marie Curie - Paris VI, 2016. Français. ⟨NNT : 2016PA066590⟩
Theses tel-01589652v1
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AA amyloidosis

Katia Stankovic Stojanovic , Sophie Georgin-Lavialle , Gilles Grateau
Néphrologie & Thérapeutique, 2017, 13 (4), pp.258-264. ⟨10.1016/j.nephro.2017.03.001⟩
Journal articles inserm-04051886v1
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International management platform for children’s interstitial lung disease (chILD-EU)

Matthias Griese , Elias Seidl , Meike Hengst , Simone Reu , Hans Rock , et al.
Thorax, 2017, 73 (3), pp.231 - 239. ⟨10.1136/thoraxjnl-2017-210519⟩
Journal articles inserm-04040506v1
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Long-term effects of azithromycin in patients with cystic fibrosis

Clémentine Samson , Aline Tamalet , Hoang Vu Thien , Jessica Taytard , Caroline Perisson , et al.
Respiratory Medicine, 2016, ⟨10.1016/j.rmed.2016.05.025⟩
Journal articles hal-01321876v1
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Renin-angiotensin system blockade promotes a cardio-renal protection in albuminuric homozygous sickle cell patients

Jean-Philippe Haymann , Nadjib Hammoudi , Katia Stankovic Stojanovic , Frederic Galacteros , Anoosha Habibi , et al.
British Journal of Haematology, 2017, 179 (5), pp.820-828. ⟨10.1111/bjh.14969⟩
Journal articles inserm-04051866v1
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Chronic myelomonocytic leukemia as a cause of fatal uncontrolled inflammation in familial Mediterranean fever

Fawaz Awad , Sophie Georgin-Lavialle , Anne Brignier , Coralie Derrieux , Achille Aouba , et al.
Orphanet Journal of Rare Diseases, 2015, 10, pp.76. ⟨10.1186/s13023-015-0295-9⟩
Journal articles hal-01275739v1
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A framework to identify contributing genes in patients with Phelan-McDermid syndrome

Anne-Claude Tabet , Thomas Rolland , Marie Ducloy , Jonathan Levy , Julien Buratti , et al.
Genomic Medicine, 2017, 2, pp.32. ⟨10.1038/s41525-017-0035-2⟩
Journal articles hal-01738521v1
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Étude des gènes impliqués dans le déterminisme gonadique chez l'homme

Capucine Hyon
Génétique humaine. Université Pierre et Marie Curie - Paris VI, 2016. Français. ⟨NNT : 2016PA066493⟩
Theses tel-01539508v1
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Concordance between CRP and SAA in familial Mediterranean fever during attack-free period: A study of 218 patients

Katia Stankovic Stojanovic , Véronique Hentgen , Soraya Fellahi , Sophie Georgin-Lavialle , Serge Amselem , et al.
Clinical Biochemistry, 2017, 50 (4-5), pp.206-209. ⟨10.1016/j.clinbiochem.2016.11.008⟩
Journal articles hal-02503286v1
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Role of lipid phosphate phosphatase 3 in human aortic endothelial cell function

Zahia Touat-Hamici , Henri Weidmann , Yuna Blum , Carole Proust , Hervé Durand , et al.
Cardiovascular Research, 2016, 112 (3), pp.702 - 713. ⟨10.1093/cvr/cvw217⟩
Journal articles hal-01484581v1
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11p15 ICR1 Partial Deletions Associated with IGF2/H19 DMR Hypomethylation and Silver-Russell Syndrome

Walid Abi Habib , Frederic Brioude , Salah Azzi , Jennifer Salem , Cristina das Neves , et al.
Human Mutation, 2017, 38 (1), pp.105-111. ⟨10.1002/humu.23131⟩
Journal articles hal-04026539v1
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PLA2G10 Gene Variants, sPLA2 Activity, and Coronary Heart Disease Risk

Montse Guardiola , Holly Exeter , Claire Perret , Lasse Folkersen , Ferdinand Van'T Hooft , et al.
Circulation: Cardiovascular Genetics, 2015, 8 (2), pp.356-362. ⟨10.1161/CIRCGENETICS.114.000633⟩
Journal articles inserm-03918966v1
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Functional characterization of a human POU1F1 mutation associated with isolated growth hormone deficiency: a novel etiology for IGHD

Marie-Laure Sobrier , Yu-Cheng Tsai , Christelle Pérez , Bruno Leheup , Tahar Bouceba , et al.
Human Molecular Genetics, 2016, 25 (3), pp.472-483. ⟨10.1093/hmg/ddv486⟩
Journal articles hal-01304122v1
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VLITL is a major cross-beta-sheet signal for fibrinogen A alpha-chain frameshift variants

Cyrille Garnier , Fatma Briki , Brigitte Nedelec , Patrick Le Pogamp , Ahmet Dogan , et al.
Blood, 2017, 130 (25), pp.2799-2807. ⟨10.1182/blood-2017-07-796185⟩
Journal articles hal-01688181v1
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A survey of resistance to colchicine treatment for French patients with familial Mediterranean fever

Alice Corsia , Sophie Georgin-Lavialle , Véronique Hentgen , Eric Hachulla , Gilles Grateau , et al.
Orphanet Journal of Rare Diseases, 2017, 12 (1), pp.54. ⟨10.1186/s13023-017-0609-1⟩
Journal articles inserm-04051765v1
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Respiratory Distress, Congenital Hypothyroidism and Hypotonia in a Newborn

Sophie Jovien , Raphaël Borie , Diane Doummar , Annick Clement , Nadia Nathan
2016, pp.188-191. ⟨10.1159/000449136⟩
Other publications inserm-04147488v1
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Management of suspected monogenic lung fibrosis in a specialised centre

Raphael Borie , Caroline Kannengiesser , Flore Sicre de Fontbrune , Laurent Gouya , Nadia Nathan , et al.
European Respiratory Review, 2017, 26 (144), pp.160122. ⟨10.1183/16000617.0122-2016⟩
Journal articles inserm-04016378v1
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Donor Dependent Variations in Hematopoietic Differentiation among Embryonic and Induced Pluripotent Stem Cell Lines

Olivier Féraud , Yannick Valogne , Michael W. Melkus , Yanyan Zhang , Noufissa Oudrhiri , et al.
PLoS ONE, 2016, 11 (3), pp.e0149291. ⟨10.1371/journal.pone.0149291⟩
Journal articles hal-01297573v1
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Impact of human monocyte and macrophage polarization on NLR expression and NLRP3 inflammasome activation

Fawaz Awad , Eman Assrawi , Claire Jumeau , Sophie Georgin-Lavialle , Laetitia Cobret , et al.
PLoS ONE, 2017, 12 (4), pp.e0175336. ⟨10.1371/journal.pone.0175336⟩
Journal articles hal-01509838v1
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AA amyloidosis is an emerging cause of nephropathy in obese patients

Katia Stankovic Stojanovic , Sophie Georgin-Lavialle , Christine Poitou , David Buob , Serge Amselem , et al.
European Journal of Internal Medicine, 2017, 39, pp.E18-E20. ⟨10.1016/j.ejim.2017.02.004⟩
Journal articles hal-03584602v1
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Management of children with interstitial lung diseases: the difficult issue of acute exacerbations

Annick Clement , Jacques de Blic , Ralph Epaud , Laurie Galeron , Nadia Nathan , et al.
European Respiratory Journal, 2016, 48 (6), pp.1559-1563. ⟨10.1183/13993003.01900-2016⟩
Journal articles inserm-04147459v1
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Formation of upd(7)mat by trisomic rescue: SNP array typing provides new insights in chromosomal nondisjunction

Sandra Chantot-Bastaraud , Svea Stratmann , Frédéric Brioude , Matthias Begemann , Miriam Elbracht , et al.
Molecular Cytogenetics, 2017, 10 (1), pp.28. ⟨10.1186/s13039-017-0329-1⟩
Journal articles hal-04026073v1
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Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders

Markus Wolff , Katrine M. Johannesen , Ulrike B. S. Hedrich , Silvia Masnada , Guido Rubboli , et al.
Brain - A Journal of Neurology , 2017, 140 (5), pp.1316-1336. ⟨10.1093/brain/awx054⟩
Journal articles hal-01668653v1
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Refining the regulatory region upstream of SOX9 associated with 46,XX testicular disorders of Sex Development (DSD).

Capucine Hyon , Sandra Chantot-Bastaraud , Radu Harbuz , Rakia Bhouri , Nicolas Perrot , et al.
American Journal of Medical Genetics Part A, 2015, 167A (8), pp.1851-8. ⟨10.1002/ajmg.a.37101⟩
Journal articles istex hal-01311723v1
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A new index for characterizing micro-bead motion in a flow induced by ciliary beating: Part I, experimental analysis

Mathieu Bottier , Sylvain Blanchon , Gabriel Pelle , Emilie Bequignon , Daniel Isabey , et al.
PLoS Computational Biology, 2017, 13 (7), pp.e1005605. ⟨10.1371/journal.pcbi.1005605⟩
Journal articles hal-01579454v1