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

Phenotypic Spectrum of Gastric Adenocarcinoma and Proximal Polyposis of the Stomach (GAPPS) in Denmark: A Case Series Characterizing the First Danish Families With the APC Promotor 1B Variant c.-191T > C

丹麦胃腺癌和近端胃息肉病（GAPPS）的表型谱：首批携带APC启动子1B变异c.-191T>C的丹麦家族病例系列研究

期刊:Case Reports in Genetics
影响因子:
doi:10.1155/crig/4024148
Skat-Rørdam, P A; Jelsig, A M; Karstensen, J G; Petersen, A H; Madsen, M B; Jensen, T D
APP
肿瘤
APC
肿瘤免疫
发表日期：2026
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The c.1744G > C, p.(Glu582Gln) missense variant in coding exon 14 of APC increases skipping of a natural occurring isoform and causes Familial Adenomatous Polyposis

APC基因第14号编码外显子中的c.1744G>C，p.(Glu582Gln)错义变异会增加天然存在的异构体的跳跃，并导致家族性腺瘤性息肉病。

期刊:Journal of Cancer Research and Clinical Oncology
影响因子:2.8
doi:10.1007/s00432-025-06357-w
Jelsig, Anne Marie; Boelman, Maria Bejerholm; Birkedal, Ulf; Hübertz, Jane; Al-Zehawi, Lana; Lautrup, Charlotte; Karstensen, John Gásdal; van Overeem Hansen, Thomas
APC
免疫/内分泌
发表日期：2025
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The clinicopathological features of breast cancer in Peutz-Jeghers syndrome: results from an international survey

Peutz-Jeghers综合征乳腺癌的临床病理特征：一项国际调查的结果

期刊:Familial Cancer
影响因子:2
doi:10.1007/s10689-025-00469-5
Loehrer, Elizabeth; Wagner, Anja; Bahar, Massiah; Ramzan, F Rubab; Jelsig, Anne Marie; Goverde, Anne; van Leerdam, Monique; Korsse, Susanne E; Dekker, Evelien; Spaander, Manon C W; Karstensen, John Gásdal; Zuber, Veronica; Macrae, Finlay; Latchford, Andrew
肿瘤
肿瘤免疫
乳腺癌
发表日期：2025
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Re-evaluating the genotypes of patients with adenomatous polyposis of unknown etiology: a nationwide study

重新评估病因不明的腺瘤性息肉病患者的基因型：一项全国性研究

期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-024-01585-z
Karstensen, John Gásdal; Hansen, Thomas V Overeem; Burisch, Johan; Djursby, Malene; Højen, Helle; Madsen, Majbritt Busk; Jespersen, Niels; Jelsig, Anne Marie
发表日期：2024
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Gastrointestinal manifestations in patients with gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS): a systematic review with analysis of individual patient data

胃腺癌合并胃近端息肉病（GAPPS）患者的胃肠道表现：一项基于个体患者数据的系统评价

期刊:Hereditary Cancer in Clinical Practice
影响因子:2.4
doi:10.1186/s13053-024-00284-6
Skat-Rørdam, P A; Kaya, Y; Qvist, N; Hansen, TvO; Jensen, T D; Karstensen, J G; Jelsig, A M
APP
肿瘤
肿瘤免疫
发表日期：2024
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Endoscopic indicators in patients with familial adenomatous polyposis undergoing duodenal resections - a nationwide Danish cohort study with long-term follow-up

家族性腺瘤性息肉病患者十二指肠切除术的内镜指标——一项丹麦全国性队列研究及长期随访

期刊:Familial Cancer
影响因子:2
doi:10.1007/s10689-024-00415-x
Karstensen, J G; Wewer, M D; Bülow, S; Hansen, Tvo; Højen, H; Jelsig, A M; Kuhlmann, T P; Burisch, J; Pommergaard, H C
免疫/内分泌
发表日期：2024
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Germline pathogenic variants in RNF43 in patients with and without serrated polyposis syndrome

RNF43基因的种系致病变异在伴有和不伴有锯齿状息肉综合征的患者中均有发现。

期刊:Familial Cancer
影响因子:2
doi:10.1007/s10689-024-00428-6
Brinch, Heidi Hesselø; Byrjalsen, Anna; Lohse, Zuzana; Rasmussen, Andreas Ørslev; Karstensen, John Gásdal; Kristiansen, Britta Schlott; Jelsig, Anne Marie
发表日期：2024
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Cancer risk and mortality in patients with solitary juvenile polyps-A nationwide cohort study with matched controls

孤立性幼年性息肉患者的癌症风险和死亡率——一项全国性队列研究及匹配对照组

期刊:United European Gastroenterology Journal
影响因子:6.7
doi:10.1002/ueg2.12441
Jelsig, Anne Marie; Wullum, Laus; Kuhlmann, Tine Plato; Ousager, Lilian Bomme; Burisch, Johan; Karstensen, John Gásdal
肿瘤
肿瘤免疫
发表日期：2023
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Cancer risk and mortality in patients with solitary Peutz-Jeghers polyps

孤立性Peutz-Jeghers息肉患者的癌症风险和死亡率

期刊:Gastroenterology Report
影响因子:4.2
doi:10.1093/gastro/goad056
Jelsig, Anne Marie; Wullum, Laus; Ousager, Lilian Bomme; Burish, Johan; Kühlmann, Tine Plato; Karstensen, John Gásdal
肿瘤
肿瘤免疫
发表日期：2023
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CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology

CUX1 相关神经发育障碍：深入了解表型-基因型谱和潜在病理

期刊:European Journal of Human Genetics
影响因子:3.7
doi:10.1038/s41431-023-01445-2
Henry Oppermann #, Elia Marcos-Grañeda #, Linnea A Weiss, Christina A Gurnett, Anne Marie Jelsig, Susanne H Vineke, Bertrand Isidor, Sandra Mercier, Kari Magnussen, Pia Zacher, Mona Hashim, Alistair T Pagnamenta, Simone Race, Siddharth Srivastava, Zoë Frazier, Robert Maiwald, Matthias Pergande, Dona
神经
发表日期：2023
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