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Last submissions
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Robin Deterding, Matthias Griese, Gail Deutsch, David Warburton, Emily M Deboer, et al.. Study design of a randomised, placebo-controlled trial of nintedanib in children and adolescents with fibrosing interstitial lung disease. ERJ Open Research, 2021, 7 (2), pp.00805-2020. ⟨10.1183/23120541.00805-2020⟩. ⟨inserm-04038073⟩
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Elodie Fiot, Bertille Alauze, Bruno Donadille, Dinane Samara-Boustani, Muriel Houang, et al.. Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol). Orphanet Journal of Rare Diseases, 2022, 17 (S1), pp.261. ⟨10.1186/s13023-022-02423-5⟩. ⟨inserm-04031866⟩
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Lucas Bouys, Anna Vaczlavik, Anne Jouinot, Patricia Vaduva, Stéphanie Espiard, et al.. Identification of predictive criteria for pathogenic variants of primary bilateral macronodular adrenal hyperplasia (PBMAH) gene ARMC5 in 352 unselected patients. European Journal of Endocrinology, 2023, 187 (1), pp.123-134. ⟨10.1530/EJE-21-1032⟩. ⟨hal-03982784⟩
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Maud Blanluet, Sandra Chantot-Bastaraud, Pascal Chambon, Kévin Cassinari, Gabriella Vera, et al.. Recurrence of an early postzygotic rescue of an inherited unbalanced translocation resulting in mosaic segmental uniparental isodisomy of chromosome 11q in siblings. American Journal of Medical Genetics Part A, 2021, 185 (10), pp.3057-3061. ⟨10.1002/ajmg.a.62361⟩. ⟨inserm-03856026⟩
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Aubin Garcia, Marie Legendre, Sandra Chantot-Bastaraud, Jean Pierre Siffroi, Sophie Christin-Maitre. Unravelling a case of 46,XY DSD due to 17ß-Hydroxysteroid Dehydrogenase type 3 mutations at the age of 49. Annales d'Endocrinologie, 2022, pp.S0003-4266(22)00005-1. ⟨10.1016/j.ando.2022.01.003⟩. ⟨inserm-03798449⟩
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Roseline Vibert, Cyril Mignot, Boris Keren, Sandra Chantot-Bastaraud, Marie-France Portnoï, et al.. Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication–deletion: Genotype–phenotype correlation for anomalies of the corpus callosum. Clinical Genetics, 2022, 101 (3), pp.307-316. ⟨10.1111/cge.14096⟩. ⟨inserm-03838049⟩
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Daphné Karila, Bruno Donadille, Juliane Leger, Claire Bouvattier, Anne Bachelot, et al.. Prevalence and characteristics of gonadoblastoma in a retrospective multi-centre study with follow-up investigations of 70 patients with Turner syndrome and a 45,X/46,XY karyotype. European Journal of Endocrinology, 2022, pp.EJE-22-0593. ⟨10.1530/EJE-22-0593⟩. ⟨inserm-03851939⟩
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Julie Sarfati, Camille Vatier, Isabelle Keller, Jérome Guéchot, Christine Bellanné-Chantelot, et al.. Severe Congenital Adrenal Hyperplasia Presenting as Bilateral Testicular Tumors and Azoospermia in the Third Decade of Life. Journal of the Endocrine Society, 2018, 2 (9), pp.997 - 1000. ⟨10.1210/js.2018-00103⟩. ⟨hal-03982827⟩
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Alexandre Rouen, Eli Rogers, Veronique Kerlan, Brigitte Delemer, Sophie Catteau-Jonard, et al.. Whole exome sequencing in a cohort of familial premature ovarian insufficiency cases reveals a broad array of pathogenic or likely pathogenic variants in 50% of families. Fertility and Sterility, 2022, 117 (4), pp.843-853. ⟨10.1016/j.fertnstert.2021.12.023⟩. ⟨hal-03678844⟩
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Fanny Canesi, Véronique Mateo, Dominique Couchie, Sonia Karabina, Anne Nègre-Salvayre, et al.. A thioredoxin-mimetic peptide exerts potent anti-inflammatory, antioxidant, and atheroprotective effects in ApoE2.Ki mice fed high fat diet. Cardiovascular Research, 2019, 115 (2), pp.292-301. ⟨10.1093/cvr/cvy183⟩. ⟨inserm-03978156⟩
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