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

De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa

U4 和 U6 snRNA 基因的新生突变和遗传性显性突变会导致视网膜色素变性。

Quinodoz, Mathieu; Rodenburg, Kim; Cvackova, Zuzana; Kaminska, Karolina; de Bruijn, Suzanne E; Iglesias-Romero, Ana Belén; Boonen, Erica G M; Ullah, Mukhtar; Zomer, Nick; Folcher, Marc; Bijon, Jacques; Holtes, Lara K; Tsang, Stephen H; Corradi, Zelia; Freund, K Bailey; Shliaga, Stefanida; Panneman, Daan M; Hitti-Malin, Rebekkah J; Ali, Manir; AlTalbishi, Ala'a; Andréasson, Sten; Ansari, Georg; Arno, Gavin; Astuti, Galuh D N; Ayuso, Carmen; Ayyagari, Radha; Banfi, Sandro; Banin, Eyal; Barakat, Tahsin Stefan; Barboni, Mirella T S; Bauwens, Miriam; Ben-Yosef, Tamar; Bernard, Virginie; Birch, David G; Biswas, Pooja; Blanco-Kelly, Fiona; Bocquet, Beatrice; Boon, Camiel J F; Branham, Kari; Bremond-Gignac, Dominique; Britten-Jones, Alexis Ceecee; Bujakowska, Kinga M; Burin des Roziers, Cyril; Cadena, Elizabeth L; Calzetti, Giacomo; Cancellieri, Francesca; Cattaneo, Luca; Chadderton, Naomi; Charbel Issa, Peter; Coutinho-Santos, Luísa; Daiger, Stephen P; De Baere, Elfride; De Bruyne, Marieke; de la Cerda, Berta; De Roach, John N; De Zaeytijd, Julie; Derks, Ronny; Dhaenens, Claire-Marie; Dudakova, Lubica; Duncan, Jacque L; Farrar, G Jane; Feltgen, Nicolas; Fenner, Beau J; Fernández-Caballero, Lidia; Ferraz Sallum, Juliana M; Gana, Simone; Garanto, Alejandro; Gardner, Jessica C; Gilissen, Christian; Gonzàlez-Duarte, Roser; Goto, Kensuke; Griffiths-Jones, Sam; Haack, Tobias B; Haer-Wigman, Lonneke; Hardcastle, Alison J; Hayashi, Takaaki; Héon, Elise; Hoefsloot, Lies H; Hoischen, Alexander; Holtan, Josephine P; Hoyng, Carel B; Ibanez, Manuel Benjamin B 4th; Inglehearn, Chris F; Iwata, Takeshi; Jensson, Brynjar O; Jones, Kaylie; Kalatzis, Vasiliki; Kamakari, Smaragda; Karali, Marianthi; Kellner, Ulrich; Klaver, Caroline C W; Knézy, Krisztina; Koenekoop, Robert K; Kohl, Susanne; Kominami, Taro; Kühlewein, Laura; Lamey, Tina M; Leibu, Rina; Leroy, Bart P; Liskova, Petra; Lopez, Irma; López-Rodríguez, Victor R de J; Mahieu, Quinten; Mahroo, Omar A; Manes, Gaël; Mansard, Luke; Martín-Gutiérrez, M Pilar; Martins, Nelson; Mauring, Laura; McKibbin, Martin; McLaren, Terri L; Meunier, Isabelle; Michaelides, Michel; Millán, José M; Mizobuchi, Kei; Mukherjee, Rajarshi; Nagy, Zoltán Zsolt; Neveling, Kornelia; Ołdak, Monika; Oorsprong, Michiel; Pan, Yang; Papachristou, Anastasia; Percesepe, Antonio; Pfau, Maximilian; Pierce, Eric A; Place, Emily; Ramesar, Raj; Ramond, Francis; Rasquin, Florence Andrée; Rice, Gillian I; Roberts, Lisa; Rodríguez-Hidalgo, María; Ruiz-Ederra, Javier; Sabir, Ataf H; Sajiki, Ai Fujita; Sánchez-Barbero, Ana Isabel; Sarma, Asodu Sandeep; Sangermano, Riccardo; Santos, Cristina M; Scarpato, Margherita; Scholl, Hendrik P N; Sharon, Dror; Signorini, Sabrina G; Simonelli, Francesca; Sousa, Ana Berta; Stefaniotou, Maria; Stefansson, Kari; Stingl, Katarina; Suga, Akiko; Sulem, Patrick; Sullivan, Lori S; Szabó, Viktória; Szaflik, Jacek P; Taurina, Gita; Thiadens, Alberta A H J; Toomes, Carmel; Tran, Viet H; Tsilimbaris, Miltiadis K; Tsoka, Pavlina; Vaclavik, Veronika; Vajter, Marie; Valeina, Sandra; Valente, Enza Maria; Valentine, Casey; Valero, Rebeca; Valleix, Sophie; van Aerschot, Joseph; van den Born, L Ingeborgh; Van Heetvelde, Mattias; Verhoeven, Virginie J M; Vincent, Andrea L; Webster, Andrew R; Whelan, Laura; Wissinger, Bernd; Yioti, Georgia G; Yoshitake, Kazutoshi; Zenteno, Juan C; Zeuli, Roberta; Zuleger, Theresia; Landau, Chaim; Jacob, Allan I; Lin, Siying; Cremers, Frans P M; Lee, Winston; Ellingford, Jamie M; Stanek, David; Roosing, Susanne; Rivolta, Carlo

ABCA4 Versus PRPH2-Associated Retinopathy: Clinical and Electrophysiological Findings

ABCA4 与 PRPH2 相关性视网膜病变:临床和电生理学发现

Heath Jeffery, Rachael C; Thompson, Jennifer A; Lo, Johnny; Vincent, Andrea L; Patil, Minal; Bianco, Lorenzo; Battaglia Parodi, Maurizio; Ziccardi, Lucia; Dell'Aquila, Carmen; Barbano, Lucilla; Tang, Wei Chao; Chan, Choi Mun; Boon, Camiel J F; Hensman, Jonathan; Chen, Ta-Ching; Lin, Chien-Yu; Chen, Pei-Lung; Vincent, Ajoy; Tumber, Anupreet; Heon, Elise; Grigg, John R; Jamieson, Robyn V; Cornish, Elisa E; Nash, Benjamin M; Chou, Jeremy; Lamey, Tina M; McLenachan, Samuel; Roshandel, Danial; Fujinami, Kaoru; Chelva, Enid; McLaren, Terri L; Chen, Fred K

Anatomy- versus Sensitivity-Based Loci Preselection in Detecting USH2A-Retinopathy Microperimetric Progression

基于解剖结构与基于敏感性的基因位点预选在检测USH2A视网膜病变微视野进展中的应用

Charng, Jason; Alonso-Caneiro, David; Lamey, Tina M; Thompson, Jennifer A; Lim, Jeremiah K H; Ong, Elaine; McLaren, Terri L; Chen, Fred K

The Role of Experimental Animal Models in Liver Transplantation Training Programs

实验动物模型在肝移植培训项目中的作用

El-Shobari, Mohamed; Ramadan, Mahmoud M; Mahdi, Mohamed Tarek; Aljanaahi, Ali; Abo-Jouma, Hasan A; Lamey, Ahmed

Effect of negative pressure wound therapy on surgical wound outcomes in colorectal cancer surgery patients: a systematic review and meta-analysis

负压伤口治疗对结直肠癌手术患者手术伤口结局的影响:系统评价和荟萃分析

Ahmed, Mohamed Sherif Ali; Hassan, Mostafa Ismail Mahmoud; Ibrahim, Ahmed; Lamey, Ahmed; Elsayed, Mahmoud M; Elshaboury, Ahmed; Elkasaby, Mohamed Hamouda; Abdelrafee, Ahmed

Elevated Plasma Complement Factors in CRB1-Associated Inherited Retinal Dystrophies

CRB1 相关遗传性视网膜营养不良症患者血浆补体因子升高

Lude Moekotte, Joke H de Boer, Sanne Hiddingh, Aafke de Ligt, Xuan-Thanh-An Nguyen, Carel B Hoyng, Chris F Inglehearn, Martin McKibbin, Tina M Lamey, Jennifer A Thompson, Fred K Chen, Terri L McLaren, Alaa AlTalbishi, Daan M Panneman, Erica G M Boonen, Sandro Banfi, Béatrice Bocquet, Isabelle Meunie

Longitudinal Assessment of Structural and Functional Changes in Rod-cone Dystrophy: A 10-year Follow-up Study

视杆细胞-视锥细胞营养不良症结构和功能变化的纵向评估:一项为期10年的随访研究

Britten-Jones, Alexis Ceecee; Luu, Chi D; Jolly, Jasleen K; Abbott, Carla J; Allen, Penelope J; Lamey, Tina; McLaren, Terri; Thompson, Jennifer A; De Roach, John; Edwards, Thomas L; Ayton, Lauren N

Retinal Disease Variability in Female Carriers of RPGR Variants Associated with Retinitis Pigmentosa: Clinical and Genetic Parameters

携带RPGR变异基因的女性视网膜疾病变异性与视网膜色素变性相关:临床和遗传参数

Gocuk, Sena A; Edwards, Thomas L; Jolly, Jasleen K; Chen, Fred K; Sousa, David C; McGuinness, Myra B; McLaren, Terri L; Lamey, Tina M; Thompson, Jennifer A; Ayton, Lauren N

Negative Pressure Wound Therapy With Saline Instillation Improves Early Healing in Purulent Soft-Tissue Disease

负压伤口治疗联合生理盐水灌注可改善化脓性软组织疾病的早期愈合

Chinikov, Maxim A; Kislyakov, Valery A; Al-Ariki, Malik K; Antone Lamey, Mohareb A; Misharina, Liya K; Sidik, Abubakar I

A Case Report of Riedel's Thyroiditis Behaving as Anaplastic Thyroid Carcinoma: A Rare Presentation

一例以间变性甲状腺癌为表现的里德尔甲状腺炎病例报告:罕见病例

Lamey, Ahmed; Farahat, Sherif; Elsayed, Salma; Magdy, Mark