Maspoli相关文献与解析，生知库 | 链接生命科学的每一步

Williams, Katie M; Berger, Wolfgang; Koller, Samuel; Pfiffner, Fatma Kivrak; Maspoli, Alessandro; Gloggnitzer, Jiradet; Brühwiler, Britta V T; Stathopoulos, Christina; Munier, Francis; Allen, Louise; Iosifidis, Christos; Black, Graeme C; Sergouniotis, Panagiotis I; Lloyd, Ian Christopher; Gerth-Kahlert, Christina

ADA

发表日期：2026

文献求助收藏

Novel Genetic Variants and Clinical Profiles in Peters Anomaly Spectrum Disorders

Peters异常谱系障碍的新型基因变异和临床特征

期刊:International Journal of Molecular Sciences

影响因子:4.9

doi:10.3390/ijms26136454

Delas, Flora; Koller, Samuel; Maggi, Jordi; Maspoli, Alessandro; Kurmann, Lisa; Lang, Elena; Berger, Wolfgang; Gerth-Kahlert, Christina

发表日期：2025

文献求助收藏

Genetic Landscape of Congenital Cataracts in a Swiss Cohort: Addressing Diagnostic Oversights in Nance-Horan Syndrome

瑞士人群先天性白内障的遗传图谱：解决南斯-霍兰综合征的诊断疏漏

期刊:Biomedicines

影响因子:3.9

doi:10.3390/biomedicines13081883

Delas, Flora; Gloggnitzer, Jiradet; Maspoli, Alessandro; Kurmann, Lisa; Frueh, Beatrice E; Dacheva, Ivanka; Hildebrand, Darius; Berger, Wolfgang; Gerth-Kahlert, Christina

白内障

发表日期：2025

文献求助收藏

Breast cancer and occupation: Non-parametric and parametric net survival analyses among Swiss women (1990-2014)

乳腺癌与职业：瑞士女性（1990-2014 年）的非参数和参数净生存分析

期刊:Frontiers in Public Health

影响因子:3.4

doi:10.3389/fpubh.2023.1129708

Guseva Canu, Irina; Bovio, Nicolas; Arveux, Patrick; Bulliard, Jean-Luc; Fournier, Evelyne; Germann, Simon; Konzelmann, Isabelle; Maspoli, Manuela; Rapiti, Elisabetta; Grzebyk, Michel

Estimating 10-year risk of lung and breast cancer by occupation in Switzerland

瑞士不同职业人群罹患肺癌和乳腺癌的10年风险评估

期刊:Frontiers in Public Health

影响因子:3.4

doi:10.3389/fpubh.2023.1137820

van der Linden, Bernadette Wilhelmina Antonia; Bovio, Nicolas; Arveux, Patrick; Bergeron, Yvan; Bulliard, Jean-Luc; Fournier, Evelyne; Germann, Simon; Konzelmann, Isabelle; Maspoli, Manuela; Rapiti, Elisabetta; Chiolero, Arnaud; Guseva Canu, Irina

Homozygosity for a Novel DOCK7 Variant Due to Segmental Uniparental Isodisomy of Chromosome 1 Associated with Early Infantile Epileptic Encephalopathy (EIEE) and Cortical Visual Impairment

1号染色体节段性单亲二体性导致的新型DOCK7变异纯合子与早期婴儿癫痫性脑病（EIEE）和皮质性视觉障碍相关

期刊:International Journal of Molecular Sciences

影响因子:4.9

doi:10.3390/ijms23137382

Kivrak Pfiffner, Fatma; Koller, Samuel; Ménétrey, Anika; Graf, Urs; Bähr, Luzy; Maspoli, Alessandro; Hackenberg, Annette; Kottke, Raimund; Gerth-Kahlert, Christina; Berger, Wolfgang

Occupational Factors and Socioeconomic Differences in Breast Cancer Risk and Stage at Diagnosis in Swiss Working Women

瑞士职业女性乳腺癌风险及诊断分期中的职业因素和社会经济差异

期刊:Cancers

影响因子:4.4

doi:10.3390/cancers14153713

Bulliard, Jean-Luc; Bovio, Nicolas; Arveux, Patrick; Bergeron, Yvan; Chiolero, Arnaud; Fournier, Evelyne; Germann, Simon; Konzelmann, Isabelle; Maspoli, Manuela; Rapiti, Elisabetta; Canu, Irina Guseva

Management and Outcome of Young Women (≤40 Years) with Breast Cancer in Switzerland

瑞士年轻女性（≤40岁）乳腺癌的管理和预后

期刊:Cancers

影响因子:4.4

doi:10.3390/cancers14051328

Montagna, Giacomo; Schaffar, Robin; Bordoni, Andrea; Spitale, Alessandra; Terribile, Daniela A; Rossi, Lorenzo; Bergeron, Yvan; van der Linden, Bernadette W A; Konzelmann, Isabelle; Rohrmann, Sabine; Staehelin, Katharina; Maspoli-Conconi, Manuela; Bulliard, Jean-Luc; Meani, Francesco; Pagani, Olivia; Rapiti, Elisabetta

Work-Related Factors and Lung Cancer Survival: A Population-Based Study in Switzerland (1990-2014)

工作相关因素与肺癌生存率：一项基于瑞士人群的研究（1990-2014 年）

期刊:International Journal of Environmental Research and Public Health

影响因子:

doi:10.3390/ijerph192113856

Bovio, Nicolas; Grzebyk, Michel; Arveux, Patrick; Bulliard, Jean-Luc; Chiolero, Arnaud; Fournier, Evelyne; Germann, Simon; Konzelmann, Isabelle; Maspoli, Manuela; Rapiti, Elisabetta; Guseva Canu, Irina

Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases

基于长片段PCR的NGS技术在孟德尔视网膜疾病诊断中的应用

期刊:International Journal of Molecular Sciences

影响因子:0.7

doi:10.3390/ijms22041508.

Jordi Maggi,Samuel Koller,Luzy Bähr,Silke Feil,Fatma Kivrak Pfiffner,James V M Hanson,Alessandro Maspoli,Christina Gerth-Kahlert,Wolfgang Berger

发表日期：2021

文献求助收藏

The Phenotypic and Genotypic Features of ADAMTSL4-Related Ocular Disease

ADAMTSL4相关眼病的表型和基因型特征

Novel Genetic Variants and Clinical Profiles in Peters Anomaly Spectrum Disorders

Peters异常谱系障碍的新型基因变异和临床特征

Genetic Landscape of Congenital Cataracts in a Swiss Cohort: Addressing Diagnostic Oversights in Nance-Horan Syndrome

瑞士人群先天性白内障的遗传图谱：解决南斯-霍兰综合征的诊断疏漏

Breast cancer and occupation: Non-parametric and parametric net survival analyses among Swiss women (1990-2014)

乳腺癌与职业：瑞士女性（1990-2014 年）的非参数和参数净生存分析

Estimating 10-year risk of lung and breast cancer by occupation in Switzerland

瑞士不同职业人群罹患肺癌和乳腺癌的10年风险评估

Homozygosity for a Novel DOCK7 Variant Due to Segmental Uniparental Isodisomy of Chromosome 1 Associated with Early Infantile Epileptic Encephalopathy (EIEE) and Cortical Visual Impairment

1号染色体节段性单亲二体性导致的新型DOCK7变异纯合子与早期婴儿癫痫性脑病（EIEE）和皮质性视觉障碍相关

Occupational Factors and Socioeconomic Differences in Breast Cancer Risk and Stage at Diagnosis in Swiss Working Women

瑞士职业女性乳腺癌风险及诊断分期中的职业因素和社会经济差异

Management and Outcome of Young Women (≤40 Years) with Breast Cancer in Switzerland

瑞士年轻女性（≤40岁）乳腺癌的管理和预后

Work-Related Factors and Lung Cancer Survival: A Population-Based Study in Switzerland (1990-2014)

工作相关因素与肺癌生存率：一项基于瑞士人群的研究（1990-2014 年）

Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases

基于长片段PCR的NGS技术在孟德尔视网膜疾病诊断中的应用