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Last submissions
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Juliette Quilichini, Sandrine Perol, Laurence Cuisset, Sarah Grotto, Corinne Fouveaut, et al.. Stratification of the risk of ovarian dysfunction by studying the complexity of intermediate and premutation alleles of the FMR1 gene. American Journal of Medical Genetics Part A, 2023, 194 (4), pp.e63479. ⟨10.1002/ajmg.a.63479⟩. ⟨inserm-04811409⟩
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Penelope Jordan, Camille Verebi, Berenice Hervé, Sandrine Perol, Zeina Chakhtoura, et al.. Shifting the landscape: Dominant C-terminal rare missense FOXL2 variants in non-syndromic primary ovarian failure etiology.. Clinical Genetics, 2024, Clinical Genetics, 106 (1), pp.102-108. ⟨10.1111/cge.14526⟩. ⟨hal-04749744⟩
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Farah Diab, Camille Louvrier, Marc Fabre, Mira Rabbaa, Aphrodite Daskalopoulou, et al.. Late-onset expression of an autoinflammatory disease: Identification and functional characterization of a mosaic variant in NLRC4. European Society of Human Genetics, Jun 2024, Berlin (Germany), Germany. ⟨inserm-04674678⟩
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Rahma Mani, Mafalda Gomes, Adrián Rodríguez González, Claire Hogg, Deborah Morris-Rosendahl, et al.. Development and first results of the BEAT PCD international Primary Ciliary Dyskinesia gene variant database: CiliaVar. ERS International Congress 2021, in session “Prediction of exacerbations in patients with COPD”, Sep 2021, Online, United Kingdom. European Respiratory Society, pp.PA3458, ⟨10.1183/13993003.congress-2021.PA3458⟩. ⟨inserm-04121677v2⟩
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Marion Delplanque, Lionel Galicier, Eric Oziol, Stéphanie Ducharme-Bénard, Eric Oksenhendler, et al.. AA Amyloidosis Secondary to Primary Immune Deficiency: About 40 Cases Including 2 New French Cases and a Systematic Literature Review. Journal of Allergy and Clinical Immunology: In Practice, 2021, 9 (2), pp.745-752.e1. ⟨10.1016/j.jaip.2020.09.023⟩. ⟨inserm-04050271⟩
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Thomas Cuny, Rachel Reynaud, Gérald Raverot, Régis Coutant, Philippe Chanson, et al.. Diagnosis and management of children and adult craniopharyngiomas: a French Endocrine Society/French Society for Paediatric Endocrinology & Diabetes Consensus Statement. Annales d'Endocrinologie = Annals of Endocrinology, 2024, ⟨10.1016/j.ando.2024.07.002⟩. ⟨hal-04646201⟩
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Nadia Nathan, Blandine Prevost, Sidonie Lambert, Aurélie Schnuriger, Harriet Corvol. Severe Acute Respiratory Syndrome Coronavirus 2 Variant Delta Infects All 6 Siblings but Spares Comirnaty (BNT162b2, BioNTech/Pfizer)-Vaccinated Parents. Journal of Infectious Diseases, 2021, 224 (11), pp.1984-1986. ⟨10.1093/infdis/jiab410⟩. ⟨hal-03827740⟩
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Marie‐hélène Odièvre, Charles Marcellus, Hubert Ducou Le Pointe, Slimane Allali, Anne‐sophie Romain, et al.. Dramatic improvement after tocilizumab of severe COVID ‐19 in a child with sickle cell disease and acute chest syndrome. American Journal of Hematology, 2020, 95 (8), ⟨10.1002/ajh.25855⟩. ⟨hal-03827781⟩
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Lucie Thomas, Laurence Cuisset, Jean-François Papon, Aline Tamalet, Isabelle Pin, et al.. Skewed X-chromosome inactivation drives the proportion of DNAAF6-defective airway motile cilia and variable expressivity in primary ciliary dyskinesia. The European Society of Human Genetics, Jun 2024, Berlin (DE), Germany. ⟨inserm-04614713⟩
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Julien Bermudez, Nadia Nathan, Benjamin Coiffard, Antoine Roux, Sandrine Hirschi, et al.. Outcome of lung transplantation for adults with interstitial lung disease associated with genetic disorders of the surfactant system. ERJ Open Research, 2023, 9 (6), pp.00240-2023. ⟨10.1183/23120541.00240-2023⟩. ⟨hal-04517578⟩