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CACNA1H Mutations Are Associated With Different Forms of Primary Aldosteronism
Georgios Daniil
,
Fabio L. Fernandes-Rosa
,
Jean Chemin
,
Iulia Blesneac
,
Jacques Beltrand
,
et al.
Journal articles
hal-01936768v1
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Contribution of Functionally Assessed GHRHR Mutations to Idiopathic Isolated Growth Hormone Deficiency in a Cohort of 312 Unrelated Patients
Enzo Cohen
,
Sabrina Belkacem
,
Soumeya Fedala
,
Nathalie Collot
,
Eliane Khallouf
,
et al.
57th Annual Meeting of the European Society for Paediatric Endocrinology, Sep 2018, Athenes, Grece, Greece
Conference papers
inserm-03934333v1
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RFX6 Regulates Insulin Secretion by Modulating Ca2+ Homeostasis in Human β Cells
Vikash Chandra
,
Olivier Albagli-Curiel
,
Benoit Hastoy
,
Julie Piccand
,
Clotilde Randriamampita
,
et al.
Journal articles
inserm-01103648v1
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Génétique de l’hypothyroïdie congénitale
Athanasia Stoupa
,
Dulanjalee Kariyawasam
,
Michel Polak
,
Aurore Carré
Journal articles
hal-03620424v1
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Long-Term Oral Treatment with Non-Hypoglycemic Dose of Glibenclamide Reduces Diabetic Retinopathy Damage in the Goto-KakizakiRat Model
Marianne Berdugo
,
Kimberley Delaunay
,
Cécile Lebon
,
Marie-Christine Naud
,
Lolita Radet
,
et al.
Journal articles
hal-03336189v1
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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.
Journal articles
inserm-03712902v1
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Ostéopathies fragilisantes, maladie rénale chronique, malabsorptions, anomalies biologiques du métabolisme phosphocalcique : les bonnes indications pour un remboursement raisonné du dosage de vitamine D
Jean-Claude Souberbielle
,
Claude-Laurent Benhamou
,
Bernard Cortet
,
Mickael Rousière
,
Christian Roux
,
et al.
Journal articles
hal-01225515v1
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The antidiabetic drug glibenclamide exerts direct retinal neuroprotection
Marianne Berdugo
,
Kimberley Delaunay
,
Marie-Christine Naud
,
Justine Guegan
,
Alexandre Moulin
,
et al.
Journal articles
inserm-02980520v1
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Contribution of LHX4 Mutations to Pituitary Deficits in a Cohort of 417 Unrelated Patients
Enzo Cohen
,
Mohamad Maghnie
,
Nathalie Collot
,
Juliane Leger
,
Florence Dastot
,
et al.
Journal articles
inserm-03837720v1
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Impact of transition on quality of life in patients with congenital adrenal hyperplasia diagnosed during childhood
Anne Bachelot
,
Magaly Vialon
,
Amandine Baptiste
,
Isabelle Tejedor
,
Caroline Elie
,
et al.
Journal articles
hal-01617789v1
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Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol)
Elodie Fiot
,
Bertille Alauze
,
Bruno Donadille
,
Dinane Samara-Boustani
,
Muriel Houang
,
et al.
Journal articles
inserm-04031866v1
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Clinical and Preliminary Molecular Description of a Cohort of Patients with Growth Retardation due to Severe Primary IGF1 Deficiency (GROWPATI Study)
Athanasia Stoupa
,
Magali Viaud
,
Isabelle Flechtner
,
Graziella Pinto
,
Dinane Samara-Boustani
,
et al.
Conference poster
inserm-03956401v1
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Contribution des mutations du gène GHRHR aux déficits isolés en hormone de croissance non syndromiques dans une large cohorte de 313 patients indépendants
Sabrina Belkacem
,
Enzo Cohen
,
Soumeya Fedala
,
Nathalie Collot
,
Eliane Khallouf
,
et al.
Assises de Génétique Humaine et Médicale, Jan 2018, Nantes (FR), France
Conference poster
inserm-03952757v1
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Type I interferon-mediated autoinflammation due to DNase II deficiency
Mathieu Rodéro
,
Alessandra Tesser
,
Eva Bartok
,
Gillian Rice
,
Erika Della Mina
,
et al.
Journal articles
pasteur-01768950v1
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Long-term outcome of ovarian function in women with intermittent premature ovarian insufficiency
Anne Bachelot
,
Carole Nicolas
,
Maud Bidet
,
Jérôme Dulon
,
Monique Leban
,
et al.
Journal articles
hal-01327895v1
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Transition of young adults with endocrine and metabolic diseases: the TRANSEND cohort
Enora Le Roux
,
Florence Menesguen
,
Isabelle Tejedor
,
Marc Popelier
,
Marine Halbron
,
et al.
Journal articles
hal-03104007v1
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Position statement on the diagnosis and management of premature/primary ovarian insufficiency (except Turner Syndrome)
Sophie Christin-Maitre
,
Maria Givony
,
Frédérique Albarel
,
Anne Bachelot
,
Maud Bidet
,
et al.
Journal articles
inserm-03856183v1
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Mutations in the TGFβ Binding-Protein-Like Domain 5 of FBN1 Are Responsible for Acromicric and Geleophysic Dysplasias
Carine Le Goff
,
Clementine C. Mahaut
,
Lauren W Wang
,
Slimane Allali
,
Avinash Abhyankar
,
et al.
Journal articles
hal-01670058v1
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Link between steroidogenesis, the cell cycle, and PKA in adrenocortical tumor cells
Marthe Rizk-Rabin
,
Sabrina Chaoui-Ibadioune
,
Anna Vaczlavik
,
Christopher Ribes
,
Michel Polak
,
et al.
Journal articles
hal-03014038v1
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NKX2-1 mutations leading to surfactant protein promoter dysregulation cause interstitial lung disease in “Brain-Lung-Thyroid Syndrome”
Loïc Guillot
,
Aurore Carré
,
Gabor Szinnai
,
Mireille Castanet
,
Elodie Tron
,
et al.
Journal articles
hal-02519910v1
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Low-dose IL-2 in children with recently diagnosed type 1 diabetes: a Phase I/II randomised, double-blind, placebo-controlled, dose-finding study
Michelle Rosenzwajg
,
Randa Salet
,
Roberta Lorenzon
,
Nicolas Tchitchek
,
Alexandra Roux
,
et al.
Journal articles
hal-03345047v1
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Cytotoxic and regulatory roles of mucosal-associated invariant T cells in type 1 diabetes
Ophelie Rouxel
,
Jennifer da Silva
,
Lucie Beaudoin
,
Isabelle Nel
,
Celine Tard
,
et al.
Journal articles
inserm-02339318v1
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Clinical lessons learned in constitutional hypopituitarism from two decades of experience in a large international cohort
Nicolas Jullien
,
Alexandru Saveanu
,
Julia Vergier
,
Emeline Marquant
,
Marie Helene Quentien
,
et al.
Journal articles
hal-03225618v1
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