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

PCSK9 in vascular smooth muscle cells: biology, pathology, and inhibition to fight atherosclerosis

血管平滑肌细胞中的PCSK9:生物学、病理学及抑制以对抗动脉粥样硬化

Amorosi, Alessio; Varret, Mathilde

APOE Molecular Spectrum in a French Cohort with Primary Dyslipidemia

法国原发性血脂异常患者队列中的 APOE 分子谱

Abou Khalil, Yara; Marmontel, Oriane; Ferrières, Jean; Paillard, François; Yelnik, Cécile; Carreau, Valérie; Charrière, Sybil; Bruckert, Eric; Gallo, Antonio; Giral, Philippe; Philippi, Anne; Bluteau, Olivier; Boileau, Catherine; Abifadel, Marianne; Di-Filippo, Mathilde; Carrié, Alain; Rabès, Jean-Pierre; Varret, Mathilde

Circulating PCSK9 Linked to Dyslipidemia in Lebanese Schoolchildren

黎巴嫩学龄儿童血液中PCSK9水平升高与血脂异常相关

Azar, Yara; Gannagé-Yared, Marie-Hélène; Naous, Elie; Ayoub, Carine; Abou Khalil, Yara; Chahine, Elise; Elbitar, Sandy; Ghaleb, Youmna; Boileau, Catherine; Varret, Mathilde; El Khoury, Petra; Abifadel, Marianne

Low circulating PCSK9 levels in LPL homozygous children with chylomicronemia syndrome in a syrian refugee family in Lebanon

黎巴嫩叙利亚难民家庭中患有乳糜微粒血症综合征的 LPL 纯合子儿童血液 PCSK9 水平较低

Carine Ayoub, Yara Azar, Dina Maddah, Youmna Ghaleb, Sandy Elbitar, Yara Abou-Khalil, Selim Jambart, Mathilde Varret, Catherine Boileau, Petra El Khoury, Marianne Abifadel

Pathogenic variants in THSD4, encoding the ADAMTS-like 6 protein, predispose to inherited thoracic aortic aneurysm

编码ADAMTS样蛋白6的THSD4基因的致病性变异会导致遗传性胸主动脉瘤。

Elbitar, Sandy; Renard, Marjolijn; Arnaud, Pauline; Hanna, Nadine; Jacob, Marie-Paule; Guo, Dong-Chuan; Tsutsui, Ko; Gross, Marie-Sylvie; Kessler, Ketty; Tosolini, Laurent; Dattilo, Vincenzo; Dupont, Sebastien; Jonquet, Jeremie; Langeois, Maud; Benarroch, Louise; Aubart, Melodie; Ghaleb, Youmna; Abou Khalil, Yara; Varret, Mathilde; El Khoury, Petra; Ho-Tin-Noé, Benoit; Alembik, Yves; Gaertner, Sébastien; Isidor, Bertrand; Gouya, Laurent; Milleron, Olivier; Sekiguchi, Kiyotoshi; Milewicz, Dianna; De Backer, Julie; Le Goff, Carine; Michel, Jean-Baptiste; Jondeau, Guillaume; Sakai, Lynn Y; Boileau, Catherine; Abifadel, Marianne

Identification of a Variant in APOB Gene as a Major Cause of Hypobetalipoproteinemia in Lebanese Families

确定 APOB 基因变异是黎巴嫩家庭低 β 脂蛋白血症的主要原因

Carine Ayoub, Yara Azar, Yara Abou-Khalil, Youmna Ghaleb, Sandy Elbitar, Georges Halaby, Selim Jambart, Marie-Hélène Gannagé-Yared, Cesar Yaghi, Carole Saade Riachy, Ralph El Khoury, Jean-Pierre Rabès, Mathilde Varret, Catherine Boileau, Petra El Khoury, Marianne Abifadel

New Sequencing technologies help revealing unexpected mutations in Autosomal Dominant Hypercholesterolemia

新的测序技术有助于揭示常染色体显性高胆固醇血症中的意外突变

Sandy Elbitar, Delia Susan-Resiga, Youmna Ghaleb, Petra El Khoury, Gina Peloso, Nathan Stitziel, Jean-Pierre Rabès, Valérie Carreau, Josée Hamelin, Ali Ben-Djoudi-Ouadda, Eric Bruckert, Catherine Boileau, Nabil G Seidah, Mathilde Varret, Marianne Abifadel

MFAP5 loss-of-function mutations underscore the involvement of matrix alteration in the pathogenesis of familial thoracic aortic aneurysms and dissections

MFAP5 功能丧失突变强调基质改变在家族性胸主动脉瘤和夹层发病机制中的作用

Mathieu Barbier, Marie-Sylvie Gross, Mélodie Aubart, Nadine Hanna, Ketty Kessler, Dong-Chuan Guo, Laurent Tosolini, Benoit Ho-Tin-Noe, Ellen Regalado, Mathilde Varret, Marianne Abifadel, Olivier Milleron, Sylvie Odent, Sophie Dupuis-Girod, Laurence Faivre, Thomas Edouard, Yves Dulac, Tiffany Busa, L

Description of a large family with autosomal dominant hypercholesterolemia associated with the APOE p.Leu167del mutation

描述一个患有常染色体显性遗传性高胆固醇血症的大家族,该家族与 APOE p.Leu167del 突变相关

Marduel, Marie; Ouguerram, Khadija; Serre, Valérie; Bonnefont-Rousselot, Dominique; Marques-Pinheiro, Alice; Erik Berge, Knut; Devillers, Martine; Luc, Gérald; Lecerf, Jean-Michel; Tosolini, Laurent; Erlich, Danièle; Peloso, Gina M; Stitziel, Nathan; Nitchké, Patrick; Jaïs, Jean-Philippe; Abifadel, Marianne; Kathiresan, Sekar; Leren, Trond Paul; Rabès, Jean-Pierre; Boileau, Catherine; Varret, Mathilde

Autosomal dominant hypercholesterolemia: needs for early diagnosis and cascade screening in the tunisian population

常染色体显性高胆固醇血症:突尼斯人群早期诊断和级联筛查的必要性

Jelassi, Awatef; Najah, Mohamed; Slimani, Afef; Jguirim, Imen; Slimane, Mohamed Naceur; Varret, Mathilde