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

Variable response of germline activating PDGFRB variants to receptor tyrosine kinase inhibitors: implications for treatment

生殖系激活型PDGFRB变异体对受体酪氨酸激酶抑制剂的反应存在差异:对治疗的启示

Cristea, Ileana; Mehrasa, Roya; Gladkauskas, Titas; Rødahl, Eyvind; Bruland, Ove; Bredrup, Cecilie

Temperature as a Key Modulator: Investigating Phosphorylation Patterns of p.Asn666 PDGFRB Variants and Their Role in Downstream Signaling

温度作为关键调节因子:研究p.Asn666 PDGFRB变体的磷酸化模式及其在下游信号传导中的作用

Titas Gladkauskas ,Ileana Cristea ,Roya Mehrasa ,Jean-Baptiste Demoulin ,Bjørn Tore Gjertsen ,Ove Bruland ,Eyvind Rødahl ,Cecilie Bredrup

Early-Onset Stargardt Disease Caused by Homozygosity of a Complex ABCA4 Allele from Eastern Africa: Two Case Reports

东非地区由复杂ABCA4等位基因纯合子引起的早发性斯塔加特病:两例病例报告

Aslaksen, Sigrid; Bratland, Eirik; Bu, Mari Hamre; Aukrust, Ingvild; Bredrup, Cecilie; Flydal, Marte Innselset; DeLuca, Adam P; Andorf, Jeaneen L; Stone, Edwin M; Knappskog, Per Morten

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

Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement

鲁宾斯坦-泰比综合征的诊断和治疗:首个国际共识声明

Lacombe, Didier; Bloch-Zupan, Agnès; Bredrup, Cecilie; Cooper, Edward B; Houge, Sofia Douzgou; García-Miñaúr, Sixto; Kayserili, Hülya; Larizza, Lidia; Lopez Gonzalez, Vanesa; Menke, Leonie A; Milani, Donatella; Saettini, Francesco; Stevens, Cathy A; Tooke, Lloyd; Van der Zee, Jill A; Van Genderen, Maria M; Van-Gils, Julien; Waite, Jane; Adrien, Jean-Louis; Bartsch, Oliver; Bitoun, Pierre; Bouts, Antonia H M; Cueto-González, Anna M; Dominguez-Garrido, Elena; Duijkers, Floor A; Fergelot, Patricia; Halstead, Elizabeth; Huisman, Sylvia A; Meossi, Camilla; Mullins, Jo; Nikkel, Sarah M; Oliver, Chris; Prada, Elisabetta; Rei, Alessandra; Riddle, Ilka; Rodriguez-Fonseca, Cristina; Rodríguez Pena, Rebecca; Russell, Janet; Saba, Alicia; Santos-Simarro, Fernando; Simpson, Brittany N; Smith, David F; Stevens, Markus F; Szakszon, Katalin; Taupiac, Emmanuelle; Totaro, Nadia; Valenzuena Palafoll, Irene; Van Der Kaay, Daniëlle C M; Van Wijk, Michiel P; Vyshka, Klea; Wiley, Susan; Hennekam, Raoul C

IC3D Classification of Corneal Dystrophies-Edition 3

IC3D角膜营养不良分类-第3版

Weiss, Jayne S; Rapuano, Christopher J; Seitz, Berthold; Busin, Massimo; Kivelä, Tero T; Bouheraoua, Nacim; Bredrup, Cecilie; Nischal, Ken K; Chawla, Harshvardhan; Borderie, Vincent; Kenyon, Kenneth R; Kim, Eung Kweon; Møller, Hans Ulrik; Munier, Francis L; Berger, Tim; Lisch, Walter

Corneal Vascularization Associated With a Novel PDGFRB Variant

与新型 PDGFRB 变体相关的角膜血管化

Titas Gladkauskas, Ove Bruland, Leen Abu Safieh, Deepak P Edward, Eyvind Rødahl, Cecilie Bredrup

A Pellino-2 variant is associated with constitutive NLRP3 inflammasome activation in a family with ocular pterygium-digital keloid dysplasia

Pellino-2 变体与眼部翼状胬肉-指(趾)瘢痕疙瘩发育不良家族中的组成性 NLRP3 炎症小体激活有关

Ileana Cristea, Hugo Abarca, Anne E Christensen Mellgren, Milana Trubnykova, Roya Mehrasa, Dorien J M Peters, Gunnar Houge, Raoul C M Hennekam, Eyvind Rødahl, Ove Bruland, Cecilie Bredrup

Functional characterization of all-trans retinoic acid-induced differentiation factor (ATRAID)

全反式维甲酸诱导分化因子(ATRAID)的功能表征

Roya Mehrasa,Ileana Cristea,Cecilie Bredrup,Eyvind Rødahl,Ove Bruland

Temperature-dependent autoactivation associated with clinical variability of PDGFRB Asn666 substitutions

PDGFRB Asn666 突变引起的临床变异性与温度依赖性自身激活有关

Bredrup, Cecilie; Cristea, Ileana; Safieh, Leen Abu; Di Maria, Emilio; Gjertsen, Bjørn Tore; Tveit, Kåre Steinar; Thu, Frode; Bull, Nils; Edward, Deepak P; Hennekam, Raoul C M; Høvding, Gunnar; Haugen, Olav H; Houge, Gunnar; Rødahl, Eyvind; Bruland, Ove