日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Transition From Children's to Adults' Healthcare for Youth With (Genetic) Intellectual Disabilities: An ERN-ITHACA Guideline

为患有(遗传性)智力障碍的青少年从儿童医疗保健过渡到成人医疗保健:ERN-ITHACA 指南

Klein Haneveld, Mirthe J; Świeczkowska, Katarzyna; Grybek, Tomasz; Labunets, Kinga; van Amelsvoort, Thérèse A M J; Bedeschi, Maria F; Behan, Claire; Dufke, Andreas; Dupont, Juliette; Gaasterland, Charlotte M W; Garavelli, Livia; Helverschou, Sissel B; McAnallen, Susan; Milska-Musa, Katarzyna A; van Staa, AnneLoes; Streață, Ioana; Stumpel, Connie T R M; Tamburrino, Federica; Vasseghi, Mary; Vyshka, Klea; Wierzba, Jolanta M; van Eeghen, Agnies M

'Mind the Gap'-A Survey on Care Gaps and Priorities for the Transition to Adult Healthcare According to Caregivers of Young People With Rare Conditions Associated With Intellectual Disability

“弥合差距”——一项关于罕见智力障碍相关疾病青少年照护者对过渡到成人医疗保健的照护差距和优先事项的调查

Klein Haneveld, Mirthe J; Vyshka, Klea; Gaasterland, Charlotte M W; Grybek, Tomasz; Świeczkowska, Katarzyna; Van Staa, AnneLoes; Van Eeghen, Agnies M

Genetic and Epigenetic Defects at the GNAS Locus Lead to Distinct Patterns of Skeletal Growth but Similar Early-Onset Obesity

GNAS基因座的遗传和表观遗传缺陷导致不同的骨骼生长模式,但都会导致相似的早发性肥胖。

Hanna, Patrick; Grybek, Virginie; Perez de Nanclares, Guiomar; Tran, Léa C; de Sanctis, Luisa; Elli, Francesca; Errea, Javier; Francou, Bruno; Kamenicky, Peter; Linglart, Léa; Pereda, Arrate; Rothenbuhler, Anya; Tessaris, Daniele; Thiele, Susanne; Usardi, Alessia; Shoemaker, Ashley H; Kottler, Marie-Laure; Jüppner, Harald; Mantovani, Giovanna; Linglart, Agnès

Loss of methylation at GNAS exon A/B is associated with increased intrauterine growth

GNAS 外显子 A/B 甲基化缺失与宫内生长增加有关

Bréhin, Anne-Claire; Colson, Cindy; Maupetit-Méhouas, Stéphanie; Grybek, Virginie; Richard, Nicolas; Linglart, Agnès; Kottler, Marie-Laure; Jüppner, Harald

European guidance for the molecular diagnosis of pseudohypoparathyroidism not caused by point genetic variants at GNAS: an EQA study

欧洲关于非由基因点变异引起的假性甲状旁腺功能减退症分子诊断的指南(GNAS):一项外部质量评估研究

Garin, Intza; Mantovani, Giovanna; Aguirre, Urko; Barlier, Anne; Brix, Bettina; Elli, Francesca M; Freson, Kathleen; Grybek, Virginie; Izzi, Benedetta; Linglart, Agnès; Perez de Nanclares, Guiomar; Silve, Caroline; Thiele, Susanne; Werner, Ralf

Methylation and transcripts expression at the imprinted GNAS locus in human embryonic and induced pluripotent stem cells and their derivatives

人类胚胎干细胞、诱导多能干细胞及其衍生物中印迹基因GNAS位点的甲基化和转录表达

Grybek, Virginie; Aubry, Laetitia; Maupetit-Méhouas, Stéphanie; Le Stunff, Catherine; Denis, Cécile; Girard, Mathilde; Linglart, Agnès; Silve, Caroline

Reply to Reijmerink et al

回复 Reijmerink 等人

Garin, Intza; Mantovani, Giovanna; Aguirre, Urko; Barlier, Anne; Brix, Bettina; Elli, Francesca M; Freson, Kathleen; Grybek, Virginie; Izzi, Benedetta; Linglart, Agne's; de Nanclares, Guiomar Perez; Silve, Caroline; Thiele, Susanne; Werner, Ralf; Meirelles, Osorio D; Ding, Jun; Tanaka, Toshiko; Sanna, Serena; Yang, Hsih-Te; Dudekula, Dawood B; Cucca, Francesco; Ferrucci, Luigi; Abecasis, Goncalo; Schlessinger, David; Evans, D Gareth R; O'Hara, Catherine; Wilding, Anna; Ingham, Sarah L; Howard, Elizabeth; Dawson, John; Moran, Anthony; Scott-Kitching, Vilka; Holt, Felicity; Huson, Susan M; Hawkins, Malcolm; Boyle, Jennifer; Wright, Kathleen E; Elles, Rob; Ramsden, Simon C; O'Grady, Anna; Sweeney, Michael; Barton, David E; Burgess, Trent; Moore, Melanie; Burns, Chris; Stacey, Glyn; Gray, Elaine; Metcalfe, Paul; Hawkins, J Ross; Plantinga, Theo S; Alonso, Santos; Izagirre, Neskuts; Hervella, Montserrat; Fregel, Rosa; van der Meer, Jos W M; Netea, Mihai G; de la Rúa, Concepcion; Wilcke, Arndt; Jana Burkhardt, Carolin Ligges; Alexander, Michael; Wolf, Christiane; Quente, Elfi; Ahnert, Peter; Hoffmann, Per; Becker, Albert; Müller-Myhsok, Bertram; Cichon, Sven; Boltze, Johannes; Kirsten, Holger; Bhoj, Elizabeth J; Ramos, Purita; Baker, Linda A; Garg, Vidu; Cost, Nicholas; Nordenskjöld, Agneta; Elder, Frederick F; Bleyl, Steven B; Bowles, Neil E; Arrington, Cammon B; Delhomme, Brigitte; Vanhoutteghem, Amandine; Djian, Philippe; Zinn, Andrew R; Breman, Amy M; Ramocki, Melissa B; Kang, Sung-Hae L; Williams, Misti; Freedenberg, Debra; Patel, Ankita; Bader, Patricia I; Cheung, Sau Wai; Pillai, Sreekumar G