Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 33 Records) |
| Query Trace: Disease and FANCA[original query] |
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| [Association between clinical outcome and gene mutation in children with Fanconi anemia]. Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 2016 Aug 18 (8): 742-5. Chang Li-Xian, Ren Ruan-Ruan, Yang Wen-Yu, Zhang Jia-Yuan, Wan Yang, Liu Tian-Feng, Zhang Li, Chen Xiao-Juan, Zhu Shuai, Ruan Min, Chen Xia, Liu Xiao-Ming, Qi Ben-Quan, Zhang Ran-Ran, Zou Yao, Chen Yu-Mei, Zhu Xiao-F |
| A strategy for molecular diagnostics of Fanconi anemia in Brazilian patients. Molecular genetics & genomic medicine 2017 Jul 5 (4): 360-372. Pilonetto Daniela V, Pereira Noemi F, Bonfim Carmem M S, Ribeiro Lisandro L, Bitencourt Marco A, Kerkhoven Lianne, Floor Karijn, Ameziane Najim, Joenje Hans, Gille Johan J P, Pasquini Ricar |
| Characterizing key nucleotide polymorphisms of hepatitis C virus-disease associations via mass-spectrometric genotyping. International journal of oncology 2017 12 52 (2): 441-452. Horiuchi Yuta, Lin Jason, Shinojima Yui, Fujiwara Kyoko, Moriyama Mitsuhiko, Nagase Hiro |
| Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia. Haematologica 2017 12 103 (3): 417-426. Bottega Roberta, Nicchia Elena, Cappelli Enrico, Ravera Silvia, De Rocco Daniela, Faleschini Michela, Corsolini Fabio, Pierri Filomena, Calvillo Michaela, Russo Giovanna, Casazza Gabriella, Ramenghi Ugo, Farruggia Piero, Dufour Carlo, Savoia An |
| Prevalence of DNA repair gene mutations in localized prostate cancer according to clinical and pathologic features: association of Gleason score and tumor stage. Prostate cancer and prostatic diseases 2018 Aug . Marshall Catherine Handy, Fu Wei, Wang Hao, Baras Alexander S, Lotan Tamara L, Antonarakis Emmanuel |
| Functional analysis of Fanconi anemia mutations in China. Experimental hematology 2018 7 66 32-41.e8. Li Niu, Ding Lixia, Li Benshang, Wang Jian, D'Andrea Alan D, Chen Ji |
| Integrated case-control and somatic-germline interaction analyses of melanoma susceptibility genes. Biochimica et biophysica acta. Molecular basis of disease 2018 Jun 1864 (6 Pt B): 2247-2254. Yu Yao, Hu Hao, Chen Jiun-Sheng, Hu Fulan, Fowler Jerry, Scheet Paul, Zhao Hua, Huff Chad |
| Mutation Spectrum of Cancer-Associated Genes in Patients With Early Onset of Colorectal Cancer. Frontiers in oncology 2019 8 9 673. Zhunussova Gulnur, Afonin Georgiy, Abdikerim Saltanat, Jumanov Abai, Perfilyeva Anastassiya, Kaidarova Dilyara, Djansugurova Ley |
| Identification of candidate cancer predisposing variants by performing whole-exome sequencing on index patients from BRCA1 and BRCA2-negative breast cancer families. BMC cancer 2019 Apr 19 (1): 313. Shahi Rajendra Bahadur, De Brakeleer Sylvia, Caljon Ben, Pauwels Ingrid, Bonduelle Maryse, Joris Sofie, Fontaine Christel, Vanhoeij Marian, Van Dooren Sonia, Teugels Erik, De Grève Jacqu |
| Germline susceptibility variants impact clinical outcome and therapeutic strategies for stage III colorectal cancer. Scientific reports 2019 Mar 9 (1): 3931. Lin Peng-Chan, Yeh Yu-Min, Wu Pei-Ying, Hsu Keng-Fu, Chang Jang-Yang, Shen Meng- |
| Screening of the FANCA gene mutational hotspots in the Pakistani fanconi anemia patients revealed 19 sequence variations. Congenital anomalies 2019 2 60 (1): 32-39. Shahid Muhammad, Firasat Sabika, Satti Humayoon Shafique, Satti Tariq Mahmood, Ghafoor Tariq, Sharif Imtenan, Afshan Kir |
| Clinical Impact of Somatic Variants in Homologous Recombination Repair-Related Genes in Ovarian High-Grade Serous Carcinoma. Cancer research and treatment : official journal of Korean Cancer Association 2020 Jan . Choi Min Chul, Hwang Sohyun, Kim Sewha, Jung Sang Geun, Park Hyun, Joo Won Duk, Song Seung Hun, Lee Chan, Kim Tae-Heon, Kang Haeyoun, An Hee Ju |
| Clinical, cytogenetic and molecular findings in nine Moroccan patients with Fanconi anemia. The Pan African medical journal 2021 8 39 72. Doubaj Yassamine, Zrhidri Abdelali, Elalaoui Siham Chafai, Lyahyai Jaber, El Kadiri Youssef, Elkassimi Nadia, Sbiti Aziza, El Kababri Maria, Hessissen Laila, Sefiani Abdelaz |
| Severe telomere shortening in Fanconi anemia complementation group L. Molecular biology reports 2021 1 48 (1): 585-593. Shah Anjali, George Merin, Dhangar Somprakash, Rajendran Aruna, Mohan Sheila, Vundinti Babu R |
| 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 |
| Clinical Benefit With PARP Inhibitor for Pathogenic Germline FANCA-Mutated Relapsed Epithelial Ovarian Cancer: A Case Report. Frontiers in oncology 2022 3 12 778545. Qian Bing, Leng Wenshu, Yan Zhengqing, Lu Jin, Chen Shiqing, Yi Huan, Jiang Z |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| Identification of novel candidate predisposing genes in familial nonmedullary thyroid carcinoma implicating DNA damage repair pathways. International journal of cancer 2024 9 . Carolina Pires, Inês J Marques, Ana Saramago, Margarida M Moura, Marta Pojo, Rafael Cabrera, Catarina Santos, Francisco Rosário, Diana Lousa, João B Vicente, Tiago M Bandeiras, Manuel R Teixeira, Valeriano Leite, Branca M Cava |
| Prevalence of germline variants in Brazilian pancreatic carcinoma patients. Scientific reports 2024 9 14 (1): 21083. Lívia Munhoz Rodrigues, Simone Maistro, Maria Lucia Hirata Katayama, Vinícius Marques Rocha, Rossana Veronica Mendoza Lopez, Edia Filomena di Tullio Lopes, Fernanda Toledo Gonçalves, Cintia Fridman, Pedro Adolpho de Menezes Pacheco Serio, Luciana Rodrigues Carvalho Barros, Luiz Antonio Senna Leite, Vanderlei Segatelli, Maria Del Pilar Estevez-Diz, Rodrigo Santa Cruz Guindalini, Ulysses Ribeiro Junior, Maria Aparecida Azevedo Koike Folguei |
| The Impact of Li Fraumeni and Germline Retinoblastoma Mutations on Leiomyosarcoma Initiation, Outcomes and Genetic Testing Recommendations. Clinical cancer research : an official journal of the American Association for Cancer Research 2024 8 . Josephine K Dermawan, David H Abramson, Sarah Chiang, Martee L Hensley, William D Tap, Sujana Movva, Robert G Maki, Diana Mandelker, Cristina R Antones |
| Genetic landscape of Romanian PPGLs. Journal of cellular and molecular medicine 2024 12 28 (23): e70204. Sofia-Maria Lider-Burciulescu, Monica Gheorghiu, Elena Braha, Laura Semonia Stanescu, Attila Patocs, Corin Bad |
| 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 |
- Page last reviewed:Feb 1, 2024
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