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Physiopathologie des maladies génétiques d'expression pédiatrique
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Enzo Cohen, Sabrina Belkacem, Soumeya Fedala, Nathalie Collot, Eliane Khallouf, et al.. Contribution of functionally assessed GHRHR mutations to idiopathic isolated growth hormone deficiency in patients without GH1 mutations. Human Mutation, Wiley, 2019, 40 (11), pp.2033 - 2043. ⟨10.1002/humu.23847⟩. ⟨inserm-03712902⟩
Javier Muñoz-Garcia, Jorge William Vargas-Franco, Benedicte Brounais-Le Royer, Denis Cochonneau, Jérôme Amiaud, et al.. Inhibiting Endothelin Receptors withMacitentan Strengthens the Bone Protective Action of RANKL Inhibition and Reduces Metastatic Dissemination in Osteosarcoma. Cancers, MDPI, 2022, 14 (7), pp.1765. ⟨10.3390/cancers14071765⟩. ⟨inserm-03625367⟩
Isabelle Koné-Paut, Sophie Georgin-Lavialle, Caroline Galeotti, Linda Rossi-Semerano, Véronique Hentgen, et al.. Autoinflammation secondaire à des défauts d’ubiquitination dans la voie NFKB : haploinsuffisance de A20 (HA20) et déficit en Otuline (Otulinopénie). Revue du Rhumatisme, Elsevier, 2019, 86, pp.358 - 366. ⟨10.1016/j.rhum.2018.09.012⟩. ⟨hal-03486217⟩
Sophie Georgin-Lavialle, Antoine Fayand, François Rodrigues, Claude Bachmeyer, Léa Savey, et al.. Autoinflammatory diseases: State of the art. La Presse Médicale, Elsevier Masson, 2019, 48, pp.e25 - e48. ⟨10.1016/j.lpm.2018.12.003⟩. ⟨hal-03486058⟩
Pierre-yves Boëlle, Dominique Debray, Loïc Guillot, Annick Clement, Harriet Corvol. Cystic Fibrosis Liver Disease: Outcomes and Risk Factors in a Large Cohort of French Patients. Hepatology, Wiley-Blackwell, 2018, ⟨10.1002/hep.30148⟩. ⟨hal-02016641⟩
Raja Ben Tkhayat, Jessica Taytard, Harriet Corvol, Laura Berdah, Blandine Prévost, et al.. Benefits and risks of bronchoalveolar lavage in severe asthma in children. ERJ Open Research, European Respiratory Society, 2021, 7 (4), pp.00332-2021. ⟨10.1183/23120541.00332-2021⟩. ⟨hal-03474991⟩
Serge Amselem, Sonia Gueguen, Jérôme Weinbach, Annick Clement, Paul Landais. RaDiCo, the French national research program on rare disease cohorts. Orphanet Journal of Rare Diseases, BioMed Central, 2021, 16 (1), ⟨10.1186/s13023-021-02089-5⟩. ⟨hal-03420607⟩
Vincent Cottin, Sonia Gueguen, Stéphane Jouneau, Hilario Nunes, Bruno Crestani, et al.. Impact of Gender on the Characteristics of Patients with Idiopathic Pulmonary Fibrosis Included in the RaDiCo-ILD Cohort. Respiration, Karger, 2022, 101 (1), pp.34-45. ⟨10.1159/000518008⟩. ⟨hal-03361027⟩
Marjorie Whitfield, Lucie Thomas, Emilie Bequignon, Alain Schmitt, Laurence Stouvenel, et al.. Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to Asthenozoospermia. American Journal of Human Genetics, Elsevier (Cell Press), 2019, 105 (1), pp.198-212. ⟨10.1016/j.ajhg.2019.04.015⟩. ⟨hal-02315263⟩
Nadia Nathan, Chiara Sileo, Alain Calender, yves Pacheco, Paul-André Rosental, et al.. Paediatric sarcoidosis. Paediatric Respiratory Reviews, Elsevier, 2019, 29, ⟨10.1016/j.prrv.2018.05.003⟩. ⟨hal-02112883⟩
Nino Guy Cassuto, David Piquemal, Florence Boitrelle, Lionel Larue, Nathalie Lédée, et al.. Molecular Profiling of Spermatozoa Reveals Correlations between Morphology and Gene Expression: A Novel Biomarker Panel for Male Infertility. BioMed Research International , Hindawi Publishing Corporation, 2021, 2021, pp.1 - 14. ⟨10.1155/2021/1434546⟩. ⟨hal-03369698⟩
Alexandre Terré, Magali Colombat, Alexandre Cez, Claire Martin, Carine Diet, et al.. Title: AA amyloidosis complicating monoclonal gammopathies, an unusual feature validating the concept of "monoclonal gammopathy of inflammatory significance"? Authors: Alexandre Terré¹ , ¹³ https://orcid.org/0000-0002-8295-9068, Magali Colombat². International Journal of Clinical Practice, Wiley, 2021, ⟨10.1111/ijcp.14817⟩. ⟨hal-03359330⟩
Ommar Omarjee, Anne-Laure Mathieu, Gaëlle Quiniou, Marion Moreews, Michelle Ainouze, et al.. LACC1 deficiency links juvenile arthritis with autophagy and metabolism in macrophages. Journal of Experimental Medicine, Rockefeller University Press, 2021, 218 (3), pp.e20201006. ⟨10.1084/jem.20201006⟩. ⟨hal-03355059⟩
Philippe Horellou, Aliénor de Chalus, Laetitia Giorgi, Carole Leroy, Pascale Chrétien, et al.. Regulatory T Cells Increase After rh-MOG Stimulation in Non-Relapsing but Decrease in Relapsing MOG Antibody-Associated Disease at Onset in Children. Frontiers in Immunology, Frontiers, 2021, 12, ⟨10.3389/fimmu.2021.679770⟩. ⟨hal-03280710⟩
Nicole Beydon, Aline Tamalet, Estelle Escudier, Marie Legendre, Guillaume Thouvenin. Breath holding and tidal breathing nasal NO to screen children for Primary Ciliary Dyskinesia. Pediatric Pulmonology, Wiley, 2021, ⟨10.1002/ppul.25432⟩. ⟨hal-03201639⟩
Matthieu Peycelon. Mécanismes physiopathologiques impliqués dans la différenciation du tractus génital masculin. Génétique humaine. Sorbonne Université, 2019. Français. ⟨NNT : 2019SORUS461⟩. ⟨tel-03153249⟩
Catherine Dong, Bertrand Condat, Magalie Picon-Coste, yves Chrétien, Pascal Potier, et al.. Low-phospholipid-associated cholelithiasis syndrome: Prevalence, clinical features, and comorbidities. JHEP Reports Innovation in Hepatology, Elsevier, 2021, 3 (2), pp.100201. ⟨10.1016/j.jhepr.2020.100201⟩. ⟨hal-03136120⟩
Maud Blanluet, Julien Masliah-Planchon, Irina Giurgea, Franck Bielle, Élodie Girard, et al.. SHH medulloblastoma in a young adult with a TCF4 germline pathogenic variation. Acta Neuropathologica, Springer Verlag, 2019, 137 (4), pp.675-678. ⟨10.1007/s00401-019-01983-4⟩. ⟨hal-02347134⟩
Nadia Nathan, Blandine Prevost, Chiara Sileo, Nicolas Richard, Laura Berdah, et al.. The Wide Spectrum of COVID-19 Clinical Presentation in Children. Journal of Clinical Medicine, MDPI, 2020, 9 (9), pp.2950. ⟨10.3390/jcm9092950⟩. ⟨hal-02988401⟩
Valérie Bernard, Bruno Donadille, Tiphaine Le Poulennec, Mariana Nedelcu, Laetitia Martinerie, et al.. MANAGEMENT OF ENDOCRINE DISEASE: Transition of care for young adult patients with Turner syndrome. European Journal of Endocrinology, BioScientifica, 2019, 180 (1), pp.R1-R7. ⟨10.1530/EJE-18-0238⟩. ⟨hal-02948831⟩
Number of fulltext
72
Number of reference
43
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