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

Identifying colorectal cancer-specific vulnerabilities in the Wnt-driven long non-coding transcriptome.

识别 Wnt 驱动的长非编码转录组中结直肠癌特异性脆弱性

Schwarzmueller Laura J, Adam Ronja S, Moreno Leandro F, Nijman Lisanne E, Logiantara Adrian, Eleonora Steven, Bril Oscar, Vromans Sophie, de Groot Nina E, Giugliano Francesca Paola, Stepanova Ekaterina, Muncan Vanesa, Elbers Clara C, Lenos Kristiaan J, Zwijnenburg Danny A, van Eijndhoven Monique A J, Pegtel Dirk Michiel, van Neerven Sanne M, Loayza-Puch Fabricio, Dadali Tulin, Broom Wendy J, Maier Martin A, Koster Jan, Vermeulen Louis, Léveillé Nicolas

REEV: review, evaluate and explain variants

REEV:审查、评估和解释变异

Hramyka, Dzmitry; Sczakiel, Henrike Lisa; Zhao, Max Xiaohang; Stolpe, Oliver; Nieminen, Mikko; Adam, Ronja; Danyel, Magdalena; Einicke, Lara; Hägerling, René; Knaus, Alexej; Mundlos, Stefan; Schwartzmann, Sarina; Seelow, Dominik; Ehmke, Nadja; Mensah, Martin Atta; Boschann, Felix; Beule, Dieter; Holtgrewe, Manuel

Development of a miRNA-based classifier for detection of colorectal cancer molecular subtypes

开发基于miRNA的结直肠癌分子亚型检测分类器

Adam, Ronja S; Poel, Dennis; Ferreira Moreno, Leandro; Spronck, Joey M A; de Back, Tim R; Torang, Arezo; Gomez Barila, Patricia M; Ten Hoorn, Sanne; Markowetz, Florian; Wang, Xin; Verheul, Henk M W; Buffart, Tineke E; Vermeulen, Louis

Variant profiling of colorectal adenomas from three patients of two families with MSH3-related adenomatous polyposis

对来自两个家族的三名患有 MSH3 相关腺瘤性息肉病的患者的结直肠腺瘤进行变异谱分析

Perne, Claudia; Peters, Sophia; Cartolano, Maria; Horpaopan, Sukanya; Grimm, Christina; Altmüller, Janine; Sommer, Anna K; Hillmer, Axel M; Thiele, Holger; Odenthal, Margarete; Möslein, Gabriela; Adam, Ronja; Sivalingam, Sugirthan; Kirfel, Jutta; Schweiger, Michal R; Peifer, Martin; Spier, Isabel; Aretz, Stefan

Diagnostic yield and clinical utility of a comprehensive gene panel for hereditary tumor syndromes

综合基因检测在遗传性肿瘤综合征诊断中的应用价值和临床应用价值

Henn, Jonas; Spier, Isabel; Adam, Ronja S; Holzapfel, Stefanie; Uhlhaas, Siegfried; Kayser, Katrin; Plotz, Guido; Peters, Sophia; Aretz, Stefan

Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis.

外显子组测序发现双等位基因 MSH3 生殖系突变是结直肠腺瘤性息肉病的隐性亚型

Adam Ronja, Spier Isabel, Zhao Bixiao, Kloth Michael, Marquez Jonathan, Hinrichsen Inga, Kirfel Jutta, Tafazzoli Aylar, Horpaopan Sukanya, Uhlhaas Siegfried, Stienen Dietlinde, Friedrichs Nicolaus, Altmüller Janine, Laner Andreas, Holzapfel Stefanie, Peters Sophia, Kayser Katrin, Thiele Holger, Holinski-Feder Elke, Marra Giancarlo, Kristiansen Glen, Nöthen Markus M, Büttner Reinhard, Möslein Gabriela, Betz Regina C, Brieger Angela, Lifton Richard P, Aretz Stefan

Chromoendoscopy in combination with random biopsies does not improve detection of gastric cancer foci in CDH1 mutation positive patients

染色内镜联合随机活检并不能提高CDH1基因突变阳性患者胃癌病灶的检出率。

Hüneburg, Robert; Marwitz, Tim; van Heteren, Peer; Weismüller, Tobias J; Trebicka, Jonel; Adam, Ronja; Aretz, Stefan; Perez Bouza, Alberto; Pantelis, Dimitrios; Kalff, Jörg C; Nattermann, Jacob; Strassburg, Cristian P

De novo duplication of chromosome 16p in a female infant with signs of neonatal hemochromatosis

一名女婴出现新生儿血色素沉着症症状,其染色体16p发生新生重复。

Schwaibold, Eva Maria Christina; Bartels, Iris; Küster, Helmut; Lorenz, Michael; Burfeind, Peter; Adam, Ronja; Zoll, Barbara