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

Maternal Pre-Existing Diabetes: A Non-Inherited Risk Factor for Congenital Cardiopathies

母亲既往糖尿病:先天性心脏病的非遗传性危险因素

Ibrahim, Stéphanie; Gaborit, Bénédicte; Lenoir, Marien; Collod-Beroud, Gwenaelle; Stefanovic, Sonia

Pallidal Deep Brain Stimulation in DYT6 Dystonia: Clinical Outcome and Predictive Factors for Motor Improvement

苍白球深部脑刺激治疗DYT6肌张力障碍:临床疗效及运动功能改善的预测因素

Danielsson, Annika; Carecchio, Miryam; Cif, Laura; Koy, Anne; Lin, Jean-Pierre; Solders, Göran; Romito, Luigi; Lohmann, Katja; Garavaglia, Barbara; Reale, Chiara; Zorzi, Giovanna; Nardocci, Nardo; Coubes, Philippe; Gonzalez, Victoria; Roubertie, Agathe; Collod-Beroud, Gwenaelle; Lind, Göran; Tedroff, Kristina

Clinical utility gene card for: Hereditary thoracic aortic aneurysm and dissection including next-generation sequencing-based approaches

临床实用基因卡,适用于:遗传性胸主动脉瘤和夹层,包括基于下一代测序的方法

Arslan-Kirchner, Mine; Arbustini, Eloisa; Boileau, Catherine; Charron, Philippe; Child, Anne H; Collod-Beroud, Gwenaelle; De Backer, Julie; De Paepe, Anne; Dierking, Anna; Faivre, Laurence; Hoffjan, Sabine; Jondeau, Guillaume; Keyser, Britta; Loeys, Bart; Mayer, Karin; Robinson, Peter N; Schmidtke, Jörg

In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome

SKI基因外显子1的框内突变会导致显性Shprintzen-Goldberg综合征。

Carmignac, Virginie; Thevenon, Julien; Adès, Lesley; Callewaert, Bert; Julia, Sophie; Thauvin-Robinet, Christel; Gueneau, Lucie; Courcet, Jean-Benoit; Lopez, Estelle; Holman, Katherine; Renard, Marjolijn; Plauchu, Henri; Plessis, Ghislaine; De Backer, Julie; Child, Anne; Arno, Gavin; Duplomb, Laurence; Callier, Patrick; Aral, Bernard; Vabres, Pierre; Gigot, Nadège; Arbustini, Eloisa; Grasso, Maurizia; Robinson, Peter N; Goizet, Cyril; Baumann, Clarisse; Di Rocco, Maja; Sanchez Del Pozo, Jaime; Huet, Frédéric; Jondeau, Guillaume; Collod-Beroud, Gwenaëlle; Beroud, Christophe; Amiel, Jeanne; Cormier-Daire, Valérie; Rivière, Jean-Baptiste; Boileau, Catherine; De Paepe, Anne; Faivre, Laurence

Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias

FBN1 的 TGFβ 结合蛋白样结构域 5 突变是导致肢端和皮肤发育不良的原因

Carine Le Goff, Clémentine Mahaut, Lauren W Wang, Slimane Allali, Avinash Abhyankar, Sacha Jensen, Louise Zylberberg, Gwenaelle Collod-Beroud, Damien Bonnet, Yasemin Alanay, Angela F Brady, Marie-Pierre Cordier, Koen Devriendt, David Genevieve, Pelin Özlem Simsek Kiper, Hiroshi Kitoh, Deborah Krakow

Clinical utility gene card for: Marfan syndrome type 1 and related phenotypes [FBN1]

临床实用基因卡:马凡氏综合征 1 型及相关表型 [FBN1]

Arslan-Kirchner, Mine; Arbustini, Eloisa; Boileau, Catherine; Child, Anne; Collod-Beroud, Gwenaelle; De Paepe, Anne; Epplen, Jörg; Jondeau, Guillaume; Loeys, Bart; Faivre, Laurence

Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study

突变类型和位置对1013例患有马凡综合征或相关表型且携带FBN1突变的先证者临床结局的影响:一项国际研究

Faivre, L; Collod-Beroud, G; Loeys, B L; Child, A; Binquet, C; Gautier, E; Callewaert, B; Arbustini, E; Mayer, K; Arslan-Kirchner, M; Kiotsekoglou, A; Comeglio, P; Marziliano, N; Dietz, H C; Halliday, D; Beroud, C; Bonithon-Kopp, C; Claustres, M; Muti, C; Plauchu, H; Robinson, P N; Adès, L C; Biggin, A; Benetts, B; Brett, M; Holman, K J; De Backer, J; Coucke, P; Francke, U; De Paepe, A; Jondeau, G; Boileau, C

Heterozygous TGFBR2 mutations in Marfan syndrome

马凡综合征中的TGFBR2杂合突变

Mizuguchi, Takeshi; Collod-Beroud, Gwenaëlle; Akiyama, Takushi; Abifadel, Marianne; Harada, Naoki; Morisaki, Takayuki; Allard, Delphine; Varret, Mathilde; Claustres, Mireille; Morisaki, Hiroko; Ihara, Makoto; Kinoshita, Akira; Yoshiura, Koh-ichiro; Junien, Claudine; Kajii, Tadashi; Jondeau, Guillaume; Ohta, Tohru; Kishino, Tatsuya; Furukawa, Yoichi; Nakamura, Yusuke; Niikawa, Norio; Boileau, Catherine; Matsumoto, Naomichi