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authFullName_s : Michel Polak
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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.
EBioMedicine, 2016, 13, pp.225 - 236. ⟨10.1016/j.ebiom.2016.10.002⟩
Journal articles hal-01936768v1

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.
Cell Biology International Reports, 2014, 9 (6), pp.2206-2218. ⟨10.1016/j.celrep.2014.11.010⟩
Journal articles inserm-01103648v1
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Génétique de l’hypothyroïdie congénitale

Athanasia Stoupa , Dulanjalee Kariyawasam , Michel Polak , Aurore Carré
Médecine/Sciences, 2022, 38 (3), pp.263-273. ⟨10.1051/medsci/2022028⟩
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.
Pharmaceutics, 2021, 13 (7), pp.1095. ⟨10.3390/pharmaceutics13071095⟩
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.
Human Mutation, 2019, 40 (11), pp.2033 - 2043. ⟨10.1002/humu.23847⟩
Journal articles inserm-03712902v1

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.
Annales de Biologie Clinique, 2014, 72 (4), pp.385-389. ⟨10.1684/abc.2014.0972⟩
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.
American Journal of Translational Research, 2020, pp.S1931-5244(20)30244-9. ⟨10.1016/j.trsl.2020.10.003⟩
Journal articles inserm-02980520v1

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 of Clinical Endocrinology and Metabolism, 2017, 102 (1), pp.290-301. ⟨10.1210/jc.2016-3158⟩
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.
Endocrine Connections, 2017, 6 (7), pp.422-429. ⟨10.1530/EC-17-0094⟩
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.
Orphanet Journal of Rare Diseases, 2022, 17 (S1), pp.261. ⟨10.1186/s13023-022-02423-5⟩
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.
European Society for Paediatric Endocrinology, Sep 2018, Athens, Greece, Greece. ⟨10.3252/⟩
Conference poster inserm-03956401v1

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.
Nature Communications, 2017, 8 (1), pp.2176. ⟨10.1038/s41467-017-01932-3⟩
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.
Clinical Endocrinology, 2016, ⟨10.1111/cen.13105⟩
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.
Endocrine Connections, 2020, ⟨10.1530/EC-20-0520⟩
Journal articles hal-03104007v1

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.
Annales d'Endocrinologie, 2021, 82 (6), pp.555-571. ⟨10.1016/j.ando.2021.09.001⟩
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.
American Journal of Human Genetics, 2011, 89 (1), pp.7 - 14. ⟨10.1016/j.ajhg.2011.05.012⟩
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.
Molecular and Cellular Endocrinology, 2020, 500, ⟨10.1016/j.mce.2019.110636⟩
Journal articles hal-03014038v1

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.
Human Mutation, 2010, 31 (2), pp.E1146-E1162. ⟨10.1002/humu.21183⟩
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.
Diabetologia, 2020, 63 (9), pp.1808-1821. ⟨10.1007/s00125-020-05200-w⟩
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.
Nature Immunology, 2017, 18 (12), pp.1321-1331. ⟨10.1038/ni.3854⟩
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.
Clinical Endocrinology, 2021, 94 (2), pp.277-289. ⟨10.1111/cen.14355⟩
Journal articles hal-03225618v1