|
|
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.
Journal articles
hal-03028145v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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.
Journal articles
hal-02272036v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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.
Journal articles
inserm-03780612v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
AA amyloidosis
Katia Stankovic Stojanovic
,
Sophie Georgin-Lavialle
,
Gilles Grateau
Journal articles
inserm-04051886v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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.
Journal articles
hal-02291701v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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.
Journal articles
hal-02948831v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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.
Journal articles
hal-02180531v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
International management platform for children’s interstitial lung disease (chILD-EU)
Matthias Griese
,
Elias Seidl
,
Meike Hengst
,
Simone Reu
,
Hans Rock
,
et al.
Journal articles
inserm-04040506v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement
Marcella Zollino
,
Christiane Zweier
,
Ingrid van Balkom
,
David Sweetser
,
Joseph Alaimo
,
et al.
Journal articles
inserm-03798487v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Expanding the phenotype of the X-linked BCOR microphthalmia syndromes
Nicola Ragge
,
Bertrand Isidor
,
Pierre Bitoun
,
Sylvie Odent
,
Irina Giurgea
,
et al.
Journal articles
hal-01863370v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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.
Journal articles
hal-02347889v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Association of Vasculitis and Familial Mediterranean Fever
Salam Abbara
,
Gilles Grateau
,
Stéphanie Ducharme-Bénard
,
David Saadoun
,
Sophie Georgin-Lavialle
Journal articles
hal-02122405v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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.
Journal articles
hal-04026539v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Autoinflammatory diseases: State of the art
Sophie Georgin-Lavialle
,
Antoine Fayand
,
François Rodrigues
,
Claude Bachmeyer
,
Léa Savey
,
et al.
Journal articles
hal-03486058v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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.
Journal articles
inserm-01978798v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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.
Journal articles
hal-02147656v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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.
Journal articles
hal-03486217v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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 articles
inserm-03794378v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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.
Journal articles
inserm-04051866v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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.
Journal articles
hal-02153909v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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
Other publications
inserm-04050956v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Les maladies auto-inflammatoires
G. Grateau
Other publications
inserm-04099791v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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.
Journal articles
inserm-03712902v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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.
Journal articles
hal-02122366v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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.
Journal articles
hal-01976051v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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.
Journal articles
hal-01954683v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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.
Journal articles
hal-02343373v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Inflammasome biology, molecular pathology and therapeutic implications
Fawaz Awad
,
Eman Assrawi
,
Camille Louvrier
,
Claire Jumeau
,
Sophie Georgin-Lavialle
,
et al.
Journal articles
inserm-03788465v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Photoaging and skin cancer: Is the inflammasome the missing link?
Fawaz Awad
,
Eman Assrawi
,
Camille Louvrier
,
Claire Jumeau
,
Irina Giurgea
,
et al.
Journal articles
inserm-03788374v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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.
Journal articles
hal-01738521v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|