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

Expanding the clinical and genetic spectrum of RHO-associated retinitis pigmentosa

拓展RHO相关性视网膜色素变性的临床和遗传谱

Amaral, Rebeca A S; Zin, Olivia A; Resende, Rosane G; Moraes, Debora N; Salles, Mariana V; Rodrigues, Gabriela D; Motta, Fabiana L; Sallum, Juliana M F

Mitochondrial genomes and phylogeny of Atratus and Educator Group species of the Melanoconion Section of Culex (Melanoconion) (Diptera: Culicidae)

库蚊属(Culex)黑库蚊组(Melanoconion)(双翅目:蚊科)Atratus 和 Educator 组物种的线粒体基因组和系统发育

Oliveira, Tatiane Marques Porangaba de; Foster, Peter Gordon; Sá, Ivy Luizi Rodrigues de; Sallum, Maria Anice Mureb

Next-generation phenotyping of inherited retinal diseases from multimodal imaging with Eye2Gene

利用 Eye2Gene 进行多模态成像,实现遗传性视网膜疾病的下一代表型分析

Pontikos, Nikolas; Woof, William A; Lin, Siying; Ghoshal, Biraja; Mendes, Bernardo S; Veturi, Advaith; Nguyen, Quang; Javanmardi, Behnam; Georgiou, Michalis; Hustinx, Alexander; Ibarra-Arellano, Miguel A; Moghul, Ismail; Liu, Yichen; Pfau, Kristina; Pfau, Maximilian; Shah, Mital; Yu, Jing; Al-Khuzaei, Saoud; Wagner, Siegfried K; Daich Varela, Malena; Cabral de Guimarães, Thales Antonio; Sen, Sagnik; Naik, Gunjan; Sumodhee, Dayyanah; Fu, Dun Jack; Kabiri, Nathaniel; Furman, Jennifer; Liefers, Bart; Lee, Aaron Y; De Silva, Samantha R; Marques, Caio; Motta, Fabiana; Fujinami-Yokokawa, Yu; Hardcastle, Alison J; Arno, Gavin; Lorenz, Birgit; Herrmann, Philipp; Fujinami, Kaoru; Sallum, Juliana; Madhusudhan, Savita; Downes, Susan M; Holz, Frank G; Balaskas, Konstantinos; Webster, Andrew R; Mahroo, Omar A; Krawitz, Peter M; Michaelides, Michel

Active West Nile virus transmission in Brazil: an epidemiological study

巴西西尼罗河病毒活跃传播:一项流行病学研究

de Lima, Shirlene T S; Claro, Ingra M; Hua, Xinyi; de Jesus, Ronaldo; Serres, Kyla; Simões Mello, Leda M; Forato, Julia; Moreira, Filipe R R; Kato, Rodrigo B; Guimarães, Gustavo N; Scachetti, Gabriel C; Andrade, Pamela Dos Santos; Duarte, Larissa M F; de Lima, Maria Eduarda T; Ferraz, Clarissa P M; Vianna, Marisa P N; Santiago, Rodrigo M; Braga, Enock L R; Carneiro, Igor S; Carlos L Firmino, Antonio; Cabral, Milena G; Souza, Caio; Mello, Liana Perdigão; Li, Sabrina; Sabino, Ester C; Sallum, Maria Anice M; Weaver, Scott C; Faria, Nuno R; Romano, Camila M; Dellicour, Simon; Proenca-Modena, José Luiz; de Souza, William M

Clinical trials to gene therapy development and production in Brazil: a review

巴西基因治疗研发和生产的临床试验:综述

Morales Saute, Jonas Alex; Picanço-Castro, Virginia; de Freitas Lopes, Ana Carolina; da Silva Júnior, João Batista; Henriques Nehm, Johanna; Dos Santos Maciel, Franciele; Doederlein Schwartz, Ida Vanessa; Ferraz Sallum, Juliana Maria; Castro Ozelo, Margareth; Giugliani, Roberto; Bonamino, Martin; Petrs-Silva, Hilda; Baldo, Guilherme

Variants in CFAP410 cause a range of retinal and skeletal phenotypes

CFAP410基因变异会导致一系列视网膜和骨骼表型。

Schmidt, Ryan E; Pohodich, Amy E; Birch, David; Jones, Kaylie; Lam, Byron L; Jung, Emily H; Jain, Nieraj; Georgiou, Michalis; Mahroo, Omar A; Webster, Andrew R; Michaelides, Michel; Bakall, Benjamin; Iannaccone, Alessandro; Vincent, Ajoy; Parameswarappa, Deepika C; Heon, Elise; Scholl, Hendrik P N; Janeschitz-Kriegl, Lucas; Traboulsi, Elias I; Zein, Wadih; Brooks, Brian P; Cukras, Catherine; Hufnagel, Robert; Aleman, Tomas S; Sylla, Mohamed M; Tsang, Stephen H; Alabek, Michelle; Sahel, Jose; Gorin, Michael B; van Genderen, Maria M; Stingl, Katarina; Reith, Milda; Kohl, Susanne; Amaral, Rebeca Azevedo Souza; Sallum, Juliana Maria Ferraz; Vincent, Andrea L; Hull, Sarah; Duncan, Jacque L; Hanson, James V M; Tedeus, Matthias; Maggi, Jordi; Graf, Urs; Koller, Samuel; Berger, Wolfgang; Gerth-Kahlert, Christina; Marra, Molly; Everett, Lesley A; Yang, Paul; Pennesi, Mark E

Characterizing the Genetic Basis for Inherited Retinal Disease: Lessons Learned From the Foundation Fighting Blindness Clinical Consortium's Gene Poll

阐明遗传性视网膜疾病的遗传基础:从“对抗失明基金会临床联盟”基因调查中汲取的经验教训

Branham, Kari; Samarakoon, Lassana; Audo, Isabelle; Ayala, Allison R; Cheetham, Janet K; Daiger, Stephen P; Dhooge, Patty; Duncan, Jacque L; Durham, Todd A; Fahim, Abigail T; Huckfeldt, Rachel M; Hufnagel, Robert B; Kohl, Susanne; Maldonado, Ramiro S; Melia, Michele; Michaelides, Michel; Pennesi, Mark E; Sahel, José-Alain; Sallum, Juliana M Ferraz; Singh, Mandeep S; Sharon, Dror; Stepien, Kimberly; Jones, Kaylie; Weng, Christina Y

Modeling Culicoides paraensis distribution and implications for Oropouche virus transmission in Brazil

巴西库蠓分布模型及其对奥罗普切病毒传播的影响

Lorenz, Camila; de Azevedo, Thiago Salomão; Gomes, Alekin Bispo; Chiaravalloti-Neto, Francisco; Sallum, Maria Anice Mureb

The Current State of Robot-Assisted Minimally Invasive Esophagectomy (RAMIE): Outcomes from the Upper GI International Robotic Association (UGIRA) Esophageal Registry

机器人辅助微创食管切除术(RAMIE)的现状:来自上消化道国际机器人协会(UGIRA)食管注册研究的结果

Kooij, Cezanne D; de Jongh, Cas; Kingma, B Feike; van Berge Henegouwen, Mark I; Gisbertz, Suzanne S; Chao, Yin-Kai; Chiu, Philip W; Rouanet, Philippe; Mourregot, Anne; Immanuel, Arul; Mala, Tom; van Boxel, Gijs I; Carter, Nicholas C; Li, Hecheng; Fuchs, Hans F; Bruns, Christiane J; Giacopuzzi, Simone; Kalff, Jörg C; Hölzen, Jens-Peter; Juratli, Mazen A; Benedix, Frank; Lorenz, Eric; Egberts, Jan-Hendrik; Haveman, Jan W; van Etten, Boudewijn; Müller, Beat P; Grimminger, Peter P; Berlth, Felix; Piessen, Guillaume; van den Berg, Jan W; Milone, Marco; Luketich, James D; Sarkaria, Inderpal S; Sallum, Rubens A A; van Det, Marc J; Kouwenhoven, Ewout A; Brüwer, Matthias; Harustiak, Tomas; Kinoshita, Takahiro; Fujita, Takeo; Daiko, Hiroyuki; Li, Zhigang; Ruurda, Jelle P; van Hillegersberg, Richard