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

Targeting Aurora kinase A to prevent GVHD and relapse after myeloablative allogeneic hematopoietic cell transplantation

靶向 Aurora 激酶 A 以预防清髓性异基因造血干细胞移植后的移植物抗宿主病和复发

Holtan, Shernan G; Grover, Punita; Walton, Kelly; El Jurdi, Najla; Quinones, Victoria; Maakaron, Joseph E; Juckett, Mark B; Bachanova, Veronika; Hou, Joshua H; Terezakis, Stephanie; Myers, Thomas J; Paradiso, Linda J; DeFor, Todd E; Cao, Qing; Betts, Brian C

Characterising PRPF31-associated retinal dystrophy: Clinical insights from baseline data in a natural history study

PRPF31相关视网膜营养不良的特征分析:来自自然史研究基线数据的临床见解

Eriksen, Kathrine Olaussen; Eidet, Jon Roger; Kjellström, Ulrika; Baldesi, Jacopo; Bragadóttir, Ragnheidur; Colombo, Leonardo; Holtan, Josephine Prener

Improved Patient-Reported Outcomes With Post-Transplant Cyclophosphamide: A Quality-of-Life Evaluation and 2-Year Outcomes of BMT CTN 1703

移植后环磷酰胺治疗改善患者报告结局:BMT CTN 1703 的生活质量评估和 2 年结局

Holtan, Shernan G; Bolaños-Meade, Javier; Al Malki, Monzr M; Wu, Juan; Kitko, Carrie L; Reshef, Ran; Rezvani, Andrew R; Shaffer, Brian C; Solh, Melhem M; Yao, Janny M; Runaas, Lyndsey; Elmariah, Hany; Larkin, Karilyn T; El Jurdi, Najla; Gooptu, Mahasweta; Loren, Alison W; Hall, Aric C; Alousi, Amin M; Jamy, Omer; Clark, William; Kean, Leslie; Bhatt, Ami S; Perales, Miguel-Angel; Applegate, Kristy; Efebera, Yvonne Adeduni; Leifer, Eric; Jones, Richard J; Horowitz, Mary M; Mattila, Deborah; Saber, Wael; Hamadani, Mehdi; Martens, Michael J

Ukrainian war trauma patients abroad: the rehabilitation process in light of language barriers, cultural differences, war, and infection isolation

乌克兰战争创伤患者在海外康复:语言障碍、文化差异、战争和感染隔离等因素如何影响康复过程

Kraby, Maria Ryssdal; Toropchyna, Mariia; Holtan, Anders; Becker, Frank

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

U4 和 U6 snRNA 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; Barboni, Mirella T S; Bauwens, Miriam; Ben-Yosef, Tamar; Birch, David G; Biswas, Pooja; Blanco-Kelly, Fiona; Bocquet, Beatrice; Boon, Camiel J F; Branham, Kari; Britten-Jones, Alexis Ceecee; Bujakowska, Kinga M; Cadena, Elizabeth L; Calzetti, Giacomo; Cancellieri, Francesca; Cattaneo, Luca; Issa, Peter Charbel; Chadderton, Naomi; Coutinho-Santos, Luísa; Daiger, Stephen P; De Baere, Elfride; 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; Fernández-Caballero, Lidia; Sallum, Juliana M Ferraz; Gana, Simone; Garanto, Alejandro; Gardner, Jessica C; Gilissen, Christian; Goto, Kensuke; Gonzàlez-Duarte, Roser; Griffiths-Jones, Sam; Haack, Tobias B; Haer-Wigman, Lonneke; Hardcastle, Alison J; Hayashi, Takaaki; Héon, Elise; Hoischen, Alexander; Holtan, Josephine P; Hoyng, Carel B; Ibanez, Manuel Benjamin B 4th; Inglehearn, Chris F; Iwata, Takeshi; Jones, Kaylie; Kalatzis, Vasiliki; Kamakari, Smaragda; Karali, Marianthi; Kellner, Ulrich; Knézy, Krisztina; Klaver, Caroline C W; Koenekoop, Robert K; Kohl, Susanne; Kominami, Taro; Kühlewein, Laura; Lamey, Tina M; Leroy, Bart P; Martín-Gutiérrez, María Pilar; Martins, Nelson; Mauring, Laura; Leibu, Rina; Lin, Siying; Liskova, Petra; Lopez, Irma; López-Rodríguez, Victor R de J; Mahroo, Omar A; Manes, Gaël; 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; Rasquin, Florence Andrée; Rice, Gillian I; Roberts, Lisa; Rodríguez-Hidalgo, María; Ruiz-Eddera, 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 Giovanna; Simonelli, Francesca; Sousa, Ana Berta; Stefaniotou, Maria; Stingl, Katarina; Suga, Akiko; Sullivan, Lori S; Szabó, Viktória; Szaflik, Jacek P; Taurina, Gita; Toomes, Carmel; Tran, Viet H; Tsilimbaris, Miltiadis K; Tsoka, Pavlina; Vaclavik, Veronika; Vajter, Marie; Valeina, Sandra; Valente, Enza Maria; Valentine, Casey; Valero, Rebeca; van Aerschot, Joseph; van den Born, L Ingeborgh; Webster, Andrew R; Whelan, Laura; Wissinger, Bernd; Yioti, Georgia G; Yoshitake, Kazutoshi; Zenteno, Juan C; Zeuli, Roberta; Zuleger, Theresia; Landau, Chaim; Jacob, Allan I; Cremers, Frans P M; Lee, Winston; Ellingford, Jamie M; Stanek, David; Rivolta, Carlo; Roosing, Susanne

Long- and short-term effects of fecal microbiota transplantation on antibiotic resistance genes: results from a randomized placebo-controlled trial

粪便微生物移植对抗生素耐药基因的长期和短期影响:一项随机安慰剂对照试验的结果

Rashidi, Armin; Ebadi, Maryam; Rehman, Tauseef Ur; Elhusseini, Heba; Kazadi, David; Halaweish, Hossam; Khan, Mohammad H; Hoeschen, Andrea; Cao, Qing; Luo, Xianghua; Kabage, Amanda J; Lopez, Sharon; Holtan, Shernan G; Weisdorf, Daniel J; Liu, Chang; Ishii, Satoshi; Khoruts, Alexander; Staley, Christopher

Amphiregulin as a biomarker for monitoring lifethreatening acute graft-versus-host disease: secondary analysis of two prospective clinical trials

双调蛋白作为监测危及生命的急性移植物抗宿主病的生物标志物:两项前瞻性临床试验的二次分析

Holtan, Shernan G; El Jurdi, Najla; Rashidi, Armin; Betts, Brian C; Demorest, Connor; Galvin, John P; MacMillan, Margaret L; Weisdorf, Daniel J; Panoskaltsis-Mortari, Angela; Pratta, Michael A

Functional Characterization of ABCA4 Missense Variants Aids Variant Interpretation and Phenotype Prediction in Patients With ABCA4-Retinal Dystrophies

ABCA4 错义变异的功能表征有助于 ABCA4 视网膜营养不良患者的变异解释和表型预测

Sigrid Aslaksen, Ingvild Aukrust, Laurie Molday, Josephine Prener Holtan, Ragnhild Wivestad Jansson, Siren Berland, Eyvind Rødahl, Cecilie Bredrup, Ragnheiður Bragadóttir, Eirik Bratland, Robert S Molday, Per Morten Knappskog

The development and flux of the University of Minnesota Survivorship Program: progress, challenges, and opportunities

明尼苏达大学幸存者计划的发展与演变:进展、挑战与机遇

Rick, Tara J; Lee, Jill; Skendzel, Sasha; Verich, Kaia; Schempp, Ashley; Napurski, Char; Kreuser, Holly; Turcotte, Lucie; Holtan, Shernan; Sadak, Karim; Blaes, Anne