Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 98 Records) |
Query Trace: FANCA[original query] |
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Spectrum of Germline Mutations Within Fanconi Anemia-Associated Genes Across Populations of Varying Ancestry. JNCI cancer spectrum 2022 8 5 (1): . Chan Sock Hoai, Ni Ying, Li Shao-Tzu, Teo Jing Xian, Ishak Nur Diana Binte, Lim Weng Khong, Ngeow Joan |
Next-generation Sequencing Reveals Age-dependent Genetic Underpinnings in Lung adenocarcinoma. Journal of Cancer 2022 4 13 (5): 1565-1572. Wu Xiaonan, Zhao Jun, Yang Ling, Nie Xin, Wang Zheng, Zhang Ping, Li Chao, Hu Xueqing, Tang Min, Yi Yuting, Du Xinhua, Xia Xuefeng, Guan Yanfang, Yu Zicheng, Gu Wenguang, Quan Xiangming, Li Lin, Shi Ho |
Identification of deleterious variants in patients with male infertility due to idiopathic non-obstructive azoospermia. Reproductive biology and endocrinology : RB&E 2022 4 20 (1): 63. Tang Dongdong, Li Kuokuo, Geng Hao, Xu Chuan, Lv Mingrong, Gao Yang, Wang Guanxiong, Yu Hui, Shao Zhongmei, Shen Qunshan, Jiang Hui, Zhang Xiansheng, He Xiaojin, Cao Yunx |
MAPK Pathway Genetic Alterations Are Associated with Prolonged Overall Survival in Low-Grade Serous Ovarian Carcinoma. Clinical cancer research : an official journal of the American Association for Cancer Research 2022 4 28 (20): 4456-4465. Manning-Geist Beryl, Gordhandas Sushmita, Liu Ying L, Zhou Qin, Iasonos Alexia, Da Cruz Paula Arnaud, Mandelker Diana, Roche Kara Long, Zivanovic Oliver, Maio Anna, Kemel Yelena, Chi Dennis S, O'Cearbhaill Roisin E, Aghajanian Carol, Weigelt Britta, Chui M Herman, Grisham Rachel |
Genotype-phenotype and outcome associations in patients with Fanconi anemia: the National Cancer Institute cohort. Haematologica 2022 4 108 (1): 69-82. Altintas Burak, Giri Neelam, McReynolds Lisa J, Best Ana, Alter Blanche |
Phenotypic and genotypic correlation evaluation of 148 pediatric patients with Fanconi anemia in a Chinese rare disease cohort. Clinica chimica acta; international journal of clinical chemistry 2022 12 539 41-49. Chang Lixian, Zhang Li, An Wenbin, Wan Yang, Cai Yuli, Lan Yang, Zhang Aoli, Liu Lipeng, Ruan Min, Liu Xiaoming, Guo Ye, Yang Wenyu, Chen Xiaojuan, Chen Yumei, Wang Shuchun, Zou Yao, Yuan Weiping, Zhu Xiaof |
Canonical and uncanonical pathogenic germline variants in colorectal cancer patients by next-generation sequencing in a European referral center. ESMO open 2022 11 7 (6): 100607. Poliani L, Greco L, Barile M, Dal Buono A, Bianchi P, Basso G, Giatti V, Genuardi M, Malesci A, Laghi L, |
Alterations in Homologous Recombination-Related Genes and Distinct Platinum Response in Metastatic Triple-Negative Breast Cancers: A Subgroup Analysis of the ProfiLER-01 Trial. Journal of personalized medicine 2022 10 12 (10): . Bonnet Elise, Haddad Véronique, Quesada Stanislas, Baffert Kim-Arthur, Lardy-Cléaud Audrey, Treilleux Isabelle, Pissaloux Daniel, Attignon Valéry, Wang Qing, Buisson Adrien, Heudel Pierre-Etienne, Bachelot Thomas, Dufresne Armelle, Eberst Lauriane, Toussaint Philippe, Bonadona Valérie, Lasset Christine, Viari Alain, Sohier Emilie, Paindavoine Sandrine, Combaret Valérie, Pérol David, Ray-Coquard Isabelle, Blay Jean-Yves, Trédan Olivi |
Genome-wide association study identifies novel loci associated with skin autofluorescence in individuals without diabetes.
BMC genomics 2022 12 23 (1): 840. Vollenbrock Charlotte E, Roshandel Delnaz, van der Klauw Melanie M, Wolffenbuttel Bruce H R, Paterson Andrew |
Gene-environment analyses in a UK Biobank skin cancer cohort identifies important SNPs in DNA repair genes that may help prognosticate disease risk. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2023 8 . Richie Jeremian, Pingxing Xie, Misha Fotovati, Philippe Lefrançois, Ivan V Litvin |
The Spectrum of Germline Nucleotide Variants in Gastric Cancer Patients in the Kyrgyz Republic. Current issues in molecular biology 2023 8 45 (8): 6383-6394. Airat Bilyalov, Sergey Nikolaev, Anastasiia Danishevich, Igor Khatkov, Komron Makhmudov, Zhainagul Isakova, Nurbek Bakirov, Ernis Omurbaev, Alena Osipova, Ramaldan Ramaldanov, Elena Shagimardanova, Andrey Kiyasov, Oleg Gusev, Natalia Boduno |
Next generation sequencing reveals a high prevalence of pathogenic mutations in homologous recombination DNA damage repair genes among patients with uterine sarcoma. Gynecologic oncology 2023 8 177 14-19. Dimitrios Nasioudis, Nawar A Latif, Emily M Ko, Lori Cory, Sarah H Kim, Lainie Martin, Fiona Simpkins, Robert Giunto |
A comprehensive analysis of Fanconi anemia genes in Chinese patients with high-risk hereditary breast cancer. Journal of cancer research and clinical oncology 2023 8 . Qiao-Yan Zhu, Pu-Chun Li, Yi-Fan Zhu, Jia-Ni Pan, Rong Wang, Xiao-Lin Li, Wei-Wu Ye, Xiao-Wen Ding, Xiao-Jia Wang, Wen-Ming C |
Germ line variants in patients with acute myeloid leukemia without a suspicion of hereditary hematologic malignancy syndrome. Blood advances 2023 7 . Francesca Guijarro, Mònica López-Guerra, Jordi Morata, Alex Bataller, Sara Paz, Josep Maria Cornet-Masana, Antònia Banús-Mulet, Laia Cuesta-Casanovas, Josep Maria Carbó, Sandra Castaño-Díez, Carlos Jiménez-Vicente, Albert Cortés-Bullich, Ana Triguero, Alexandra Martínez-Roca, Daniel Esteban, Marta Gómez-Hernando, José Ramón Álamo Moreno, Irene López-Oreja, Marta Garrote, Ruth Muñoz Risueño, Raul Tonda, Ivo G Gut, Dolors Colomer, Marina Díaz-Beya, Jordi Este |
Multiple genetic variants involved in both autoimmunity and autoinflammation detected in Chinese patients with sporadic Meniere's disease: a preliminary study. Frontiers in neurology 2023 6 14 1159658. Jing Zou, Guoping Zhang, Hongbin Li, Zikai Zhao, Qing Zhang, Ilmari Pyykkö, Antti Mäkit |
Genomic analysis of plasma circulating tumor DNA in patients with heavily pretreated HER2?+?metastatic breast cancer. Scientific reports 2023 6 13 (1): 9928. Kyoungmin Lee, Jongwon Lee, Jungmin Choi, Sung Hoon Sim, Jeong Eun Kim, Min Hwan Kim, Yeon Hee Park, Jee Hyun Kim, Su-Jin Koh, Kyong Hwa Park, Myoung Joo Kang, Mi Sun Ahn, Kyoung Eun Lee, Hee-Jun Kim, Hee Kyung Ahn, Han Jo Kim, Keon Uk Park, In Hae Pa |
Germline multigene panel testing of patients with endometrial cancer. Oncology letters 2023 5 25 (6): 216. Jan Kral, Sandra Jelinkova, Petra Zemankova, Michal Vocka, Marianna Borecka, Leona Cerna, Marta Cerna, Lukas Dostalek, Petra Duskova, Lenka Foretova, Ondrej Havranek, Klara Horackova, Milena Hovhannisyan, Stepan Chvojka, Marta Kalousova, Marcela Kosarova, Monika Koudova, Vera Krutilkova, Eva Machackova, Petr Nehasil, Jan Novotny, Barbora Otahalova, Alena Puchmajerova, Marketa Safarikova, Jiri Slama, Viktor Stranecky, Ivan Subrt, Spiros Tavandzis, Michal Zikan, Tomas Zima, Jana Soukupova, Petra Kleiblova, Zdenek Kleibl, Marketa Janato |
Comprehensive profiling of pathogenic germline large genomic rearrangements in a pan-cancer analysis. Molecular oncology 2023 4 . Sun Zhe, Bai Chujie, Su Miaoyi, Tang Haimeng, Wu Xiaoying, Wang Yue, Bao Hua, Liu Xunbiao, Wu Xue, Shao Yang, Xu B |
Comprehensive laboratory diagnosis of Fanconi anaemia: comparison of cellular and molecular analysis. Journal of medical genetics 2023 3 . Joshi Gaurav, Arthur Nancy Beryl Janet, Geetha Thenral S, Datari Phaneendra Venkateswara Rao, Modak Kirti, Roy Debanjan, Chaudhury Anurag Dutta, Sundaraganesan Prasanth, Priyanka Sweety, Na Fouzia, Ramprasad Vedam, Abraham Aby, Srivastava Vivi M, Srivastava Alok, Kulkarni Uday Prakash, George Biju, Velayudhan Shaji |
New pathogenic germline variants identified in mesothelioma. Lung cancer (Amsterdam, Netherlands) 2023 3 179 107172. Belcaid Laila, Bertelsen Birgitte, Wadt Karin, Tuxen Ida, Spanggaard Iben, Højgaard Martin, Benn Sørensen Jens, Ravn Jesper, Lassen Ulrik, Cilius Nielsen Finn, Rohrberg Kristoffer, Westmose Yde Christi |
Germline cancer gene expression quantitative trait loci are associated with local and global tumor mutations. Cancer research 2023 2 . Liu Yuxi, Gusev Alexander, Kraft Pet |
Whole Exome Sequencing Study Suggests an Impact of FANCA, CDH1 and VEGFA Genes on Diffuse Gastric Cancer Development. Genes 2023 2 14 (2): . Nurgalieva Alfiia, Galliamova Lilia, Ekomasova Natalia, Yankina Maria, Sakaeva Dina, Valiev Ruslan, Prokofyeva Darya, Dzhaubermezov Murat, Fedorova Yuliya, Khusnutdinov Shamil, Khusnutdinova El |
Association of Reported Candidate Monogenic Genes With Lung Cancer Risk. Clinical lung cancer 2023 2 . Rifkin Andrew S, Less Ethan M, Wei Jun, Shi Zhuqing, Zheng Siqun Lilly, Helfand Brian T, Hulick Peter J, Krantz Seth B, Xu Jianfe |
Pathogenic germline variants in non-BRCA1/2 homologous recombination genes in ovarian cancer: Analysis of tumor phenotype and survival. Gynecologic oncology 2023 12 180 35-43. Ryan M Kahn, Pier Selenica, Thomas Boerner, Kara Long Roche, Yonghong Xiao, Tiffany Y Sia, Anna Maio, Yelena Kemel, Margaret Sheehan, Erin Salo-Mullen, Kelsey E Breen, Qin Zhou, Alexia Iasonos, Rachel N Grisham, Roisin E O'Cearbhaill, Dennis S Chi, Michael F Berger, Ritika Kundra, Nikolaus Schultz, Lora H Ellenson, Zsofia K Stadler, Kenneth Offit, Diana Mandelker, Carol Aghajanian, Dmitriy Zamarin, Paul Sabbatini, Britta Weigelt, Ying L L |
Germline mutations in pediatric cancer cohort with mixed-ancestry Mexicans. Molecular genetics & genomic medicine 2023 12 e2332. Oscar Alonso-Luna, Gabriela E Mercado-Celis, Jorge Melendez-Zajgla, Rodrigo Barquera, Marta Zapata-Tarres, Luis Enrique Juárez-Villegas, Elvia Cristina Mendoza-Caamal, Elianeth Rey-Helo, Socorro Aida Borges-Yañ |
MC1R and age heteroclassification of face phenotypes in the Rio Grande do Sul population. International journal of legal medicine 2023 12 . Cássio Augusto Bettim, Alexsandro Vasconcellos da Silva, Alessandro Kahmann, Márcio Dorn, Clarice Sampaio Alho, Eduardo Avi |
Mutations of TP53 and genes related to homologous recombination repair in breast cancer with germline BRCA1/2 mutations. Human genomics 2023 1 17 (1): 2. Kim Jinyong, Jeong Kyeonghun, Jun Hyeji, Kim Kwangsoo, Bae Jeong Mo, Song Myung Geun, Yi Hanbaek, Park Songyi, Woo Go-Un, Lee Dae-Won, Kim Tae-Yong, Lee Kyung-Hun, Im Seock- |
SMARCA4 Mutations in Gastroesophageal Adenocarcinoma: An Observational Study via a Next-Generation Sequencing Panel. Cancers 2024 4 16 (7): . Kohei Yamashita, Matheus Sewastjanow-Silva, Katsuhiro Yoshimura, Jane E Rogers, Ernesto Rosa Vicentini, Melissa Pool Pizzi, Yibo Fan, Gengyi Zou, Jenny J Li, Mariela Blum Murphy, Qiong Gan, Rebecca E Waters, Linghua Wang, Jaffer A Aja |
Genomic profiling of relapsed small cell lung cancer reveals potential pathways of therapeutic targets. Journal of thoracic disease 2024 1 15 (12): 6796-6805. Wen Ouyang, Jing Yu, Zihang Zeng, Jun Gong, Junhong Zhang, Conghua X |
Digging into the NGS Information from a Large-Scale South European Population with Metastatic/Unresectable Pancreatic Ductal Adenocarcinoma: A Real-World Genomic Depiction. Cancers 2024 1 16 (1): . Dimitrios C Ziogas, Eirini Papadopoulou, Helen Gogas, Stratigoula Sakellariou, Evangellos Felekouras, Charalampos Theocharopoulos, Dimitra T Stefanou, Maria Theochari, Ioannis Boukovinas, Dimitris Matthaios, Anna Koumarianou, Eleni Zairi, Michalis Liontos, Konstantinos Koutsoukos, Vasiliki Metaxa-Mariatou, George Kapetsis, Angeliki Meintani, Georgios N Tsaousis, George Nasioul |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 22, 2024
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