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In familial Mediterranean fever, soluble TREM-1 plasma level is higher in case of amyloidosis

Clémence Gorlier , Jérémie Sellam , Ludivine Laurans , Tabassome Simon , Irina Giurgea , et al.
Innate Immunity, 2019, 25 (8), pp.487-490. ⟨10.1177/1753425919870847⟩
Journal articles hal-03028145v1
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Monogenic forms of lipodystrophic syndromes - diagnosis, detection, and practical management considerations from clinical cases

Camille Vatier , Marie-Christine Vantyghem , Caroline Storey , Isabelle Jéru , Sophie Christin-Maitre , et al.
Current Medical Research and Opinion, 2019, 35 (3), pp.543-552. ⟨10.1080/03007995.2018.1533459⟩
Journal articles hal-02272036v1
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Screening a large pediatric cohort with GH deficiency for mutations in genes regulating pituitary development and GH secretion: Frequencies, phenotypes and growth outcomes

Werner Blum , Jürgen Klammt , Serge Amselem , Heike Pfäffle , Marie Legendre , et al.
EBioMedicine, 2018, 36, pp.390-400. ⟨10.1016/j.ebiom.2018.09.026⟩
Journal articles inserm-03780612v1
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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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Specific changes in faecal microbiota are associated with familial Mediterranean fever

Samuel Deshayes , Soraya Fellahi , Jean-Philippe Bastard , Jean-Marie Launay , Jacques Callebert , et al.
Annals of the Rheumatic Diseases, 2019, 78 (10), pp.1398-1404. ⟨10.1136/annrheumdis-2019-215258⟩
Journal articles hal-02291701v1
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MANAGEMENT OF ENDOCRINE DISEASE: Transition of care for young adult patients with Turner syndrome

Valérie Bernard , Bruno Donadille , Tiphaine Le Poulennec , Mariana Nedelcu , Laetitia Martinerie , et al.
European Journal of Endocrinology, 2019, 180 (1), pp.R1-R7. ⟨10.1530/EJE-18-0238⟩
Journal articles hal-02948831v1
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Extreme Short Stature and Severe Neurological Impairment in a 17-Year-Old Male With Untreated Combined Pituitary Hormone Deficiency Due to POU1F1 Mutation

Hussein Majdoub , Serge Amselem , Marie Legendre , Shoshana Rath , Dani Bercovich , et al.
Frontiers in Endocrinology, 2019, 10, pp.381. ⟨10.3389/fendo.2019.00381⟩
Journal articles hal-02180531v1
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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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Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement

Marcella Zollino , Christiane Zweier , Ingrid van Balkom , David Sweetser , Joseph Alaimo , et al.
Clinical Genetics, 2019, 95 (4), pp.462-478. ⟨10.1111/cge.13506⟩
Journal articles inserm-03798487v1
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Expanding the phenotype of the X-linked BCOR microphthalmia syndromes

Nicola Ragge , Bertrand Isidor , Pierre Bitoun , Sylvie Odent , Irina Giurgea , et al.
Human Genetics, 2019, 138 (8-9), pp.1051-1069. ⟨10.1007/s00439-018-1896-x⟩
Journal articles hal-01863370v1
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Author Correction : 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.
npj Genomic Medicine, 2019, 4 (1), pp.16. ⟨10.1038/s41525-019-0090-y⟩
Journal articles hal-02347889v1
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Association of Vasculitis and Familial Mediterranean Fever

Salam Abbara , Gilles Grateau , Stéphanie Ducharme-Bénard , David Saadoun , Sophie Georgin-Lavialle
Frontiers in Immunology, 2019, 10, pp.763. ⟨10.3389/fimmu.2019.00763⟩
Journal articles hal-02122405v1
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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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Autoinflammatory diseases: State of the art

Sophie Georgin-Lavialle , Antoine Fayand , François Rodrigues , Claude Bachmeyer , Léa Savey , et al.
La Presse Médicale, 2019, 48, pp.e25 - e48. ⟨10.1016/j.lpm.2018.12.003⟩
Journal articles hal-03486058v1
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Clinical and multi-omics cross-phenotyping of patients with autoimmune and autoinflammatory diseases: the observational TRANSIMMUNOM protocol

Roberta Lorenzon , Encarnita Mariotti-Ferrandiz , Caroline Aheng , Claire Ribet , Férial Toumi , et al.
BMJ Open, 2018, 8 (8), pp.e021037. ⟨10.1136/bmjopen-2017-021037⟩
Journal articles inserm-01978798v1
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Expression of SAA1, SAA2 and SAA4 genes in human primary monocytes and monocyte-derived macrophages

Claire Jumeau , Fawaz Awad , Eman Assrawi , Laetitia Cobret , Philippe Duquesnoy , et al.
PLoS ONE, 2019, 14 (5), pp.e0217005. ⟨10.1371/journal.pone.0217005⟩
Journal articles hal-02147656v1
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Autoinflammation secondaire à des défauts d’ubiquitination dans la voie NFKB : haploinsuffisance de A20 (HA20) et déficit en Otuline (Otulinopénie)

Isabelle Koné-Paut , Sophie Georgin-Lavialle , Caroline Galeotti , Linda Rossi-Semerano , Véronique Hentgen , et al.
Revue du Rhumatisme, 2019, 86, pp.358 - 366. ⟨10.1016/j.rhum.2018.09.012⟩
Journal articles hal-03486217v1
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Monoclonal Gammopathy, Arthralgias, and Recurrent Fever Syndrome: A New Autoinflammatory Syndrome?

Alexandre Terré , Alexis Talbot , Camille Louvrier , Jean Baptiste Picque , Matthieu Mahévas , et al.
Journal of Rheumatology, 2019, 46 (11), pp.1535-1539. ⟨10.3899/jrheum.181204⟩
Journal articles inserm-03794378v1
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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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Health‐related quality of life in infants and children with interstitial lung disease

Clara Lauby , Pierre-Yves Boëlle , Rola Abou Taam , Katia Bessaci , Jacques Brouard , et al.
Pediatric Pulmonology, 2019, 54 (6), pp.828-836. ⟨10.1002/ppul.24308⟩
Journal articles hal-02153909v1
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Commentary to “A 44-year-old female with familial Mediterranean fever, cardiomyopathy and end stage renal disease” by Magaki et al.

Diane Bodez , Sophie Georgin-Lavialle , Gilles Grateau , David Buob
2019, pp.311-311. ⟨10.1111/bpa.12712⟩
Other publications inserm-04050956v1
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Les maladies auto-inflammatoires

G. Grateau
Other publications inserm-04099791v1
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Contribution of functionally assessed GHRHR mutations to idiopathic isolated growth hormone deficiency in patients without GH1 mutations

Enzo Cohen , Sabrina Belkacem , Soumeya Fedala , Nathalie Collot , Eliane Khallouf , et al.
Human Mutation, 2019, 40 (11), pp.2033 - 2043. ⟨10.1002/humu.23847⟩
Journal articles inserm-03712902v1
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FcRn-Dependent Transcytosis of Monoclonal Antibody in Human Nasal Epithelial Cells In Vitro: A Prerequisite for a New Delivery Route for Therapy?

Emilie Bequignon , Christine Dhommée , Christelle Angely , Lucie Thomas , Mathieu Bottier , et al.
International Journal of Molecular Sciences, 2019, 20 (6), pp.1379. ⟨10.3390/ijms20061379⟩
Journal articles hal-02122366v1
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Proteasomal degradation of NOD2 by NLRP12 in monocytes promotes bacterial tolerance and colonization by enteropathogens

Sylvain Normand , Nadine Waldschmitt , Andre Neerincx , Ruben Julio Martinez-Torres , Camille Chauvin , et al.
Nature Communications, 2018, 9, pp.5338. ⟨10.1038/s41467-018-07750-5⟩
Journal articles hal-01976051v1
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Gas exchanges in children with cystic fibrosis or primary ciliary dyskinesia: A retrospective study

Marilyn Fuger , Camille Aupiais , Guillaume Thouvenin , Jessica Taytard , Aline Tamalet , et al.
Respiratory Physiology & Neurobiology, 2018, 251, pp.1-7. ⟨10.1016/j.resp.2018.01.010⟩
Journal articles hal-01954683v1
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Risk estimation of uniparental disomy of chromosome 14 or 15 in a fetus with a parent carrying a non‐homologous Robertsonian translocation. Should we still perform prenatal diagnosis?

Kamran Moradkhani , Laurence Cuisset , Pierre Boisseau , Olivier Pichon , Marine Lebrun , et al.
Prenatal Diagnosis, 2019, 39 (11), pp.986-992. ⟨10.1002/pd.5518⟩
Journal articles hal-02343373v1
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Inflammasome biology, molecular pathology and therapeutic implications

Fawaz Awad , Eman Assrawi , Camille Louvrier , Claire Jumeau , Sophie Georgin-Lavialle , et al.
Pharmacology and Therapeutics, 2018, 187, pp.133-149. ⟨10.1016/j.pharmthera.2018.02.011⟩
Journal articles inserm-03788465v1
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Photoaging and skin cancer: Is the inflammasome the missing link?

Fawaz Awad , Eman Assrawi , Camille Louvrier , Claire Jumeau , Irina Giurgea , et al.
Mechanisms of Ageing and Development, 2018, 172, pp.131-137. ⟨10.1016/j.mad.2018.03.003⟩
Journal articles inserm-03788374v1
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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