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

RP9 revisited; RP9 p.(H137L) remains a likely cause of dominant splicing factor-Retinitis Pigmentosa

RP9 再探;RP9 p.(H137L) 突变仍然是显性剪接因子视网膜色素变性的可能病因。

Chang, Leon; Poulter, James A; Webster, Andrew R; Arno, Gavin; Mukherjee, Rajarshi; Lotery, Andrew; Hardcastle, Alison J; Watson, Christopher M; Inglehearn, Chris F

ACP4 Variants in Hypoplastic Amelogenesis Imperfecta

釉质发育不全症中的 ACP4 变异

Liu, Lu; Au, Cheuk Wang; Hany, Ummey; Rigby, Alice L; Chauhan, Anesha; Brown, Catriona; Sims, Jessie; Murillo, Gina; Acosta de Carmargo, Marìa Gabriela; Inglehearn, Chris F; Watson, Christopher M; Mighell, Alan J; Smith, Claire E L

Estradiol, via estrogen receptor β signaling, mediates stress-susceptibility in the male brain

雌二醇通过雌激素受体β信号通路介导男性大脑的应激敏感性

Georgiou, Polymnia; Postle, Abagail F; Mou, Ta-Chung M; Potter, Liam E; An, Xiaoxian; Zanos, Panos; Patton, Michael S; Pultorak, Katherine J; Clark, Sarah M; Ngyuyen, Vien; Powels, Chris F; Prokai-Tatrai, Katalin; Kirmizis, Antonis; Merchenthaler, Istvan; Prokai, Laszlo; McCarthy, Margaret M; Mathur, Brian N; Gould, Todd D

RetiGene, a comprehensive gene atlas for inherited retinal diseases

RetiGene,一个全面的遗传性视网膜疾病基因图谱

Rivolta, Carlo; Celik, Elifnaz; Kamdar, Dhryata; Cancellieri, Francesca; Kaminska, Karolina; Ullah, Mukhtar; Barberán-Martínez, Pilar; Bouckaert, Manon; Cortón, Marta; Delanote, Emma; Fernández-Caballero, Lidia; García García, Gema; Holtes, Lara K; Karali, Marianthi; Lopez, Irma; Peter, Virginie G; Schneider, Nina; Vincke, Lieselot; Ayuso, Carmen; Banfi, Sandro; Bocquet, Beatrice; Coppieters, Frauke; Cremers, Frans P M; Inglehearn, Chris F; Iwata, Takeshi; Kalatzis, Vasiliki; Koenekoop, Robert K; Millán, José M; Sharon, Dror; Toomes, Carmel; Quinodoz, Mathieu

Diagnosing Wilson Disease in Acute Liver Failure: Comparison of Existing and Experimental Biomarkers

急性肝衰竭中威尔逊病的诊断:现有生物标志物与实验性生物标志物的比较

Sandahl, Thomas Damgaard; Harrington, Chris F; Kirk, Frederik Teicher; Carpenter, Geoffrey; Douglas, Leisa; Mills, Craig; Rule, Jody A; Lee, William M; Coskun, Ayse; Schilsky, Michael L

'Flattened, fattened, and forgotten': the 'dis-integrated' care of patients prescribed antipsychotics in the UK

“被压抑、被忽视、被遗忘”:英国抗精神病药物患者的“支离破碎”的护理

Woodall, Alan; Buchan, Iain; Walker, Lauren E; Sheard, Sally; Fu, Yu; Joyce, Dan; Johnson, Chris F; Mair, Frances S

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

Expansion of the ABCA4-Associated Retinopathy Spectrum: Severe Variants Can be Associated With Early-Onset Severe Retinal Dystrophy

ABCA4相关视网膜病变谱的扩展:严重变异体可能与早发性严重视网膜营养不良相关

Panneman, Daan M; Hitti-Malin, Rebekkah J; McKibbin, Martin; de Bruijn, Suzanne E; Boonen, Erica G M; Vincent, Andrea L; Vargas, Glenda; Corominas, Jordi; Astuti, Galuh; Gilissen, Christian; De Baere, Elfride; Inglehearn, Chris F; Roosing, Susanne; Koenekoop, Robert K; Cremers, Frans P M

Long-Range PCR and Nanopore Sequencing Enables High-Throughput Detection of TCF4 Trinucleotide Repeat Expansions in Fuchs Endothelial Corneal Dystrophy

长片段PCR和纳米孔测序技术可实现对Fuchs内皮角膜营养不良中TCF4三核苷酸重复序列扩增的高通量检测

Alayed, Bushra; Siddiqui, Salina; Anand, Seema; Inglehearn, Chris F; Watson, Christopher M; Ali, Manir