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Gene|February 15, 2015
Haploinsufficiency of the miR-873/miR-876 microRNA cluster is associated with craniofacial abnormalitiesCostas Koufaris, Gregoris Papagregoriou, Ludmila Kousoulidou, et al.
Orphanet Journal of Rare Diseases|November 6, 2019
Causes of death in Prader-Willi syndrome: lessons from 11 years' experience of a national reference centerDibia Liz Pacoricona Alfaro, Perrine Lemoine, Virginie Ehlinger, et al.
Molecular Psychiatry|April 1, 2024
Differential DNA methylation in iPSC-derived dopaminergic neurons: a step forward on the role of SNORD116 microdeletion in the pathophysiology of addictive behavior in Prader-Willi syndromeJuliette Salles, Sanaa Eddiry, Saber Amri, et al.
Orphanet Journal of Rare Diseases|March 2, 2025
Early oxytocin treatment in infants with Prader-Willi syndrome is safe and is associated with better endocrine, metabolic and behavioral outcomesMarion Valette, Gwenaelle Diene, Mélanie Glattard, et al.
Human Molecular Genetics|April 17, 2018
Noonan syndrome-causing SHP2 mutants impair ERK-dependent chondrocyte differentiation during endochondral bone growthMylène Tajan, Julie Pernin-Grandjean, Nicolas Beton, et al.
Journal of Clinical Medicine|August 27, 2021
Hyponatremia in Children and Adults with Prader-Willi Syndrome: A Survey Involving Seven CountriesMuriel Coupaye, Karlijn Pellikaan, Anthony P Goldstone, et al.
Molecular and Cellular Biology|March 24, 2010
Functional effects of PTPN11 (SHP2) mutations causing LEOPARD syndrome on epidermal growth factor-induced phosphoinositide 3-kinase/AKT/glycogen synthase kinase 3beta signalingThomas Edouard, Jean-Philippe Combier, Audrey Nédélec, et al.
The Journal of Clinical Endocrinology and Metabolism|October 6, 2022
Obesity, Overweight, and Pituitary Stalk Interruption Syndrome in Children and Young AdultsGaëlle Nannette, Céline Bar, Gwenaëlle Diene, et al.
European Journal of Endocrinology|October 17, 2018
Noonan syndrome males display Sertoli cell-specific primary testicular insufficiencySophie Moniez, Catherine Pienkowski, Benoit Lepage, et al.
Orphanet Journal of Rare Diseases|July 22, 2021
Paradoxical low severity of COVID-19 in Prader-Willi syndrome: data from a French survey on 647 patientsMuriel Coupaye, Virginie Laurier, Grégoire Benvegnu, et al.
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