F C M相关文献与解析，生知库 | 链接生命科学的每一步

日期影响因子

Expanding the Molecular-genetic Spectrum of Canalicular Adenoma-like Subtype of Pleomorphic Adenoma of Salivary Glands

拓展唾液腺多形性腺瘤小管腺瘤样亚型的分子遗传学谱

期刊:American Journal of Surgical Pathology

影响因子:4.2

doi:10.1097/PAS.0000000000002377

Klubíčková, Natálie; Loghides, Frederica; van den Hout, Mari F C M; Costes-Martineau, Valérie; Ferrara, Gerardo; Rito, Miguel; Hájková, Veronika; Grossmann, Petr; Šteiner, Petr; Kovářová, Inka; Michal, Michal; Leivo, Ilmo; Skálová, Alena

免疫/内分泌

发表日期：2025

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Innovative all-in-one exome sequencing strategy for diagnostic genetic testing in male infertility: Validation and 10-month experience

用于男性不育症诊断性基因检测的创新型一体化外显子组测序策略：验证及10个月经验

期刊:Andrology

影响因子:3.4

doi:10.1111/andr.13742

Oud, Manon S; de Leeuw, Nicole; Smeets, Dominique F C M; Ramos, Liliana; van der Heijden, Godfried W; Timmermans, Raoul G J; van de Vorst, Maartje; Hofste, Tom; Kempers, Marlies J E; Stokman, Marijn F; D'Hauwers, Kathleen W M; Faas, Brigitte H W; Westra, Dineke

发表日期：2025

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PDGFRA::USP8 Fusion in a Cutaneous Inflammatory Myofibroblastic Tumor, Highlighting Genetic Pleiotropy of Kinase Gene Fusions in Soft Tissue Neoplasms

PDGFRA::USP8融合基因在皮肤炎性肌纤维母细胞瘤中的发现，凸显了激酶基因融合在软组织肿瘤中的遗传多效性

期刊:Genes Chromosomes & Cancer

影响因子:2.8

doi:10.1002/gcc.70035

Vernemmen, Astrid I P; van Kempen, Léon C L T; Aarts, Frits; Zur Hausen, Axel; Sciot, Raf M E; Hornick, Jason L; van den Hout, Mari F C M

细胞生物学

发表日期：2025

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Chorionic Villus Sampling for Rapid Confirmation of High-Risk NIPT Results for Trisomy 21, 18, and 13

绒毛膜绒毛取样用于快速确认21、18和13三体综合征高风险NIPT结果

期刊:Prenatal Diagnosis

影响因子:2.7

doi:10.1002/pd.6837

Srebniak, Malgorzata I; Weerts, Marjolein; Joosten, Marieke; Drost, Mark; Galjaard, Robert Jan; van der Schoot, Vyne; van den Born, Myrthe; Knapen, Maarten F C M; Prinsen, Krista; Cornette, Jerome M J; DeKoninck, Philip L J; Papatsonis, Dimitri; Spaan, Julia; Dijkman, Anneke; de Weerd, Sabina; Go, Attie T J I; Diderich, Karin E M; Van Opstal, Diane

发表日期：2025

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Residual Risks of Fetal Chromosome Aberrations When Cell-Free DNA Prenatal Screening Is Normal: A Retrospective Study

无细胞DNA产前筛查结果正常时，胎儿染色体异常的残余风险：一项回顾性研究

期刊:Prenatal Diagnosis

影响因子:2.7

doi:10.1002/pd.6888

Iglesias, Adriana I; Van Opstal, Diane; Thurik, Florentine F; Drost, Mark; Weerts, Marjolein J A; Joosten, Marieke; Diderich, Karin E M; van der Schoot, Vyne; van den Born, Myrthe; Galjaard, Robert-Jan H; van Veen, Stefanie; Goedegebuur-Zwalua, Eveline; de Weerd, Sabina; Dijkman, Anneke; Papatsonis, Dimitri; Cornette, Jérôme M J; Galjaard, Sander; Knapen, Maarten F C M; Prinsen, Krista; Go, Attie T J I; Stuurman, Kyra E; Srebniak, Malgorzata I

细胞生物学

发表日期：2025

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Prenatal Arsenic Exposure and Gene Expression in Fetal Liver, Heart, Lung, and Placenta.

产前砷暴露与胎儿肝脏、心脏、肺和胎盘中的基因表达

doi:10.1101/2024.11.10.622821

Rychlik K A, Kashiwagi C, Liao J, Mathur A, Illingworth E J, Sanchez S S, Kleensang A, Maertens A, SillÃ© F C M

发表日期：2024

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Predicting HPV association using deep learning and regular H&E stains allows granular stratification of oropharyngeal cancer patients

利用深度学习和常规H&E染色预测HPV关联性，可以对口咽癌患者进行精细分层。

期刊:npj Digital Medicine

影响因子:15.1

doi:10.1038/s41746-023-00901-z

Klein, Sebastian; Wuerdemann, Nora; Demers, Imke; Kopp, Christopher; Quantius, Jennifer; Charpentier, Arthur; Tolkach, Yuri; Brinker, Klaus; Sharma, Shachi Jenny; George, Julie; Hess, Jochen; Stögbauer, Fabian; Lacko, Martin; Struijlaart, Marijn; van den Hout, Mari F C M; Wagner, Steffen; Wittekindt, Claus; Langer, Christine; Arens, Christoph; Buettner, Reinhard; Quaas, Alexander; Reinhardt, Hans Christian; Speel, Ernst-Jan; Klussmann, Jens Peter

发表日期：2023

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The predictive and prognostic value of weight loss and body composition prior to and during immune checkpoint inhibition in recurrent or metastatic head and neck cancer patients

体重减轻和身体成分在复发或转移性头颈癌患者免疫检查点抑制剂治疗前后的预测和预后价值

期刊:Cancer Medicine

影响因子:3.1

doi:10.1002/cam4.5522

Willemsen, Anna C H; De Moor, Nina; Van Dessel, Jeroen; Baijens, Laura W J; Bila, Michel; Hauben, Esther; van den Hout, Mari F C M; Vander Poorten, Vincent; Hoeben, Ann; Clement, Paul M; Schols, Annemie M W J

免疫/内分泌

发表日期：2023

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Molecular characterization of an embryonal rhabdomyosarcoma occurring in a patient with Kabuki syndrome: report and literature review in the light of tumor predisposition syndromes

卡布奇综合征患者胚胎性横纹肌肉瘤的分子特征：病例报告及肿瘤易感综合征相关文献综述

期刊:Familial Cancer

doi:10.1007/s10689-022-00306-z

Aukema, Sietse M; Glaser, Selina; van den Hout, Mari F C M; Dahlum, Sonja; Blok, Marinus J; Hillmer, Morten; Kolarova, Julia; Sciot, Raf; Schott, Dina A; Siebert, Reiner; Stumpel, Constance T R M

横纹肌肉瘤

发表日期：2023

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What proportion of couples with a history of recurrent pregnancy loss and with a balanced rearrangement in one parent can potentially be identified through cell-free DNA genotyping?

通过无细胞DNA基因分型，可以识别出有多少比例的有反复流产史且父母一方存在平衡重排的夫妇？

期刊:Molecular Cytogenetics

影响因子:1.4

doi:10.1186/s13039-023-00657-x

van Zutven, Laura J C M; Mijalkovic, Jona; van Veghel-Plandsoen, Monique; Goense, Margaret; Polak, Marike; Knapen, Maarten F C M; de Weerd, Sabina; Joosten, Marieke; Diderich, Karin E M; Hoefsloot, Lies H; Van Opstal, Diane; Srebniak, Malgorzata I

细胞生物学

发表日期：2023

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