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

Loss-of-function variants in SAXO6, encoding a microtubule inner protein of photoreceptor cilia, cause a late-onset retinal dystrophy

SAXO6基因的功能缺失变异会导致迟发性视网膜营养不良,该基因编码光感受器纤毛的微管内层蛋白。

Moye, Abigail R; McCafferty, Caitlyn L; Lin, Siying; Han, Ji Hoon; Dudakova, Lubica; Rodenburg, Kim; Szabó, Viktória; Nagy, Zoltán Zsolt; Zur, Dinah; Vajter, Marie; Kousal, Bohdan; Moulin, Alexandre P; Graff-Meyer, Alexandra; Roosing, Susanne; Mahroo, Omar A; Arno, Gavin; Webster, Andrew R; Ben-Yosef, Tamar; Liskova, Petra; Engel, Benjamin D; Zobor, Ditta; Quinodoz, Mathieu; Rivolta, Carlo

Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy.

编码囊泡 AP-5 复合物不同亚基的三个基因的双等位基因变异会导致遗传性黄斑营养不良

Kaminska Karolina, Cancellieri Francesca, Quinodoz Mathieu, Moye Abigail R, Bauwens Miriam, Lin Siying, Janeschitz-Kriegl Lucas, Hayman Tamar, Barberán-Martínez Pilar, Schlaeger Regina, Van den Broeck Filip, Ávila Fernández Almudena, Fernández-Caballero Lidia, Perea-Romero Irene, García-García Gema, Salom David, Mazzola Pascale, Zuleger Theresia, Poths Karin, Haack Tobias B, Jacob Julie, Vermeer Sascha, Terbeek Frédérique, Feltgen Nicolas, Moulin Alexandre P, Koutroumanou Louisa, Papadakis George, Browning Andrew C, Madhusudhan Savita, Gränse Lotta, Banin Eyal, Sousa Ana Berta, Coutinho Santos Luisa, Kuehlewein Laura, De Angeli Pietro, Leroy Bart P, Mahroo Omar A, Sedgwick Fay, Eden James, Pfau Maximilian, Andréasson Sten, Scholl Hendrik P N, Ayuso Carmen, Millán José M, Sharon Dror, Tsilimbaris Miltiadis K, Vaclavik Veronika, Tran Hoai V, Ben-Yosef Tamar, De Baere Elfride, Webster Andrew R, Arno Gavin, Sergouniotis Panagiotis I, Kohl Susanne, Santos Cristina, Rivolta Carlo

Sub-ciliary localization of CEP290 and effects of its loss in mouse photoreceptors during development

CEP290在小鼠光感受器中位于纤毛下,其缺失对小鼠发育过程中光感受器的影响

Moye, Abigail R; Robichaux, Michael A; Agosto, Melina A; Moulin, Alexandre P; Graff-Meyer, Alexandra; Rivolta, Carlo; Wensel, Theodore G

Ciliopathy-associated protein, CEP290, is required for ciliary necklace and outer segment membrane formation in retinal photoreceptors.

纤毛病相关蛋白 CEP290 是视网膜感光细胞中纤毛项链和外节膜形成所必需的

Moye Abigail R, Robichaux Michael A, Agosto Melina A, Rivolta Carlo, Moulin Alexandre P, Wensel Theodore G

Mutations in SAMD7 cause autosomal-recessive macular dystrophy with or without cone dysfunction

SAMD7基因突变会导致常染色体隐性遗传性黄斑营养不良,伴或不伴视锥细胞功能障碍。

Bauwens, Miriam; Celik, Elifnaz; Zur, Dinah; Lin, Siying; Quinodoz, Mathieu; Michaelides, Michel; Webster, Andrew R; Van Den Broeck, Filip; Leroy, Bart P; Rizel, Leah; Moye, Abigail R; Meunier, Audrey; Tran, Hoai Viet; Moulin, Alexandre P; Mahieu, Quinten; Van Heetvelde, Mattias; Arno, Gavin; Rivolta, Carlo; De Baere, Elfride; Ben-Yosef, Tamar

The Pediatric and Young Adult Choroidal and Ciliary Body Melanoma Genetic Study, A Survey by the European Ophthalmic Oncology Group

儿童及青少年脉络膜和睫状体黑色素瘤遗传学研究,欧洲眼科肿瘤协作组调查

van Poppelen, Natasha M; Cassoux, Nathalie; Turunen, Joni A; Naus, Nicole C; Verdijk, Robert M; Vaarwater, Jolanda; Cohen, Victoria; Papastefanou, Vasilios P; Kiratli, Hayyam; Saakyan, Svetlana V; Tsygankov, Alexander Y; Rospond-Kubiak, Iwona; Mudhar, Hardeep S; Salvi, Sachin M; Kiilgaard, Jens F; Heegaard, Steffen; Moulin, Alexandre P; Saornil, Maria A; Garciá-Alvarez, Ciro; Fili, Maria; Eide, Nils A; Meyer, Peter; Kivelä, Tero T; de Klein, Annelies; Kilic, Emine; Al-Jamal, Rana'a T

Ten-year experience with intracameral chemotherapy for aqueous seeding in retinoblastoma: long-term efficacy, safety and toxicity

视网膜母细胞瘤房水播散的眼内化疗十年经验:长期疗效、安全性和毒性

Stathopoulos, Christina; Beck-Popovic, Maja; Moulin, Alexandre P; Munier, Francis L

β-Catenin Expression and Activation in Conjunctival Melanoma

结膜黑色素瘤中β-catenin的表达和激活

Larivé, Emerentienne; Nicolas, Michael; Kaya, Gürkan; Riggi, Nicolo; Moulin, Alexandre P

Mathematical population genetics, Biomathematics

数学群体遗传学,生物数学

Royer-Bertrand, Beryl; Torsello, Matteo; Rimoldi, Donata; El Zaoui, Ikram; Cisarova, Katarina; Pescini-Gobert, Rosanna; Raynaud, Franck; Zografos, Leonidas; Schalenbourg, Ann; Speiser, Daniel; Nicolas, Michael; Vallat, Laureen; Klein, Robert; Leyvraz, Serge; Ciriello, Giovanni; Riggi, Nicolò; Moulin, Alexandre P; Rivolta, Carlo; Seashore, Margretta R; Caskey, C Thomas; Elston, Robert C