Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 38 Records) |
| Query Trace: Anemia and FANCA[original query] |
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| Polymorphisms within the FANCA gene associate with premature ovarian failure in Korean women. Menopause (New York, N.Y.) 2014 May 21 (5): 530-3. Pyun Jung-A, Kim Sunshin, Cha Dong Hyun, Kwack KyuB |
| Genetic variants in fanconi anemia pathway genes BRCA2 and FANCA predict melanoma survival. The Journal of investigative dermatology 2015 Feb 135 (2): 542-50. Yin Jieyun, Liu Hongliang, Liu Zhensheng, Wang Li-E, Chen Wei V, Zhu Dakai, Amos Christopher I, Fang Shenying, Lee Jeffrey E, Wei Qing |
| Founder haplotype analysis of Fanconi anemia in the Korean population finds common ancestral haplotypes for a FANCG variant. Annals of human genetics 2015 May 79 (3): 153-61. Park Joonhong, Kim Myungshin, Jang Woori, Chae Hyojin, Kim Yonggoo, Chung Nack-Gyun, Lee Jae-Wook, Cho Bin, Jeong Dae-Chul, Park In Yang, Park Mi S |
| [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 |
| Biallelic truncating FANCM mutations cause early-onset cancer but not Fanconi anemia. Genetics in medicine : official journal of the American College of Medical Genetics 2017 8 20 (4): 458-463. Bogliolo Massimo, Bluteau Dominique, Lespinasse James, Pujol Roser, Vasquez Nadia, d'Enghien Catherine Dubois, Stoppa-Lyonnet Dominique, Leblanc Thierry, Soulier Jean, Surrallés Jor |
| 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 |
| A rare FANCA gene variation as a breast cancer susceptibility allele in an Iranian population. Molecular medicine reports 2017 Apr . Abbasi Sakineh, Rasouli Mi |
| 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 |
| 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 |
| Identification of rare heterozygous missense mutations in FANCA in esophageal atresia patients using next-generation sequencing. Gene 2018 4 661 182-188. Feng Yu, Chen Runsen, Da Min, Qian Bo, Mo Xumi |
| Associations of complementation group, ALDH2 genotype, and clonal abnormalities with hematological outcome in Japanese patients with Fanconi anemia. Annals of hematology 2019 Feb 98 (2): 271-280. Yabe Miharu, Koike Takashi, Ohtsubo Keisuke, Imai Eri, Morimoto Tsuyoshi, Takakura Hiromitsu, Koh Katsuyoshi, Yoshida Kenichi, Ogawa Seishi, Ito Etsuro, Okuno Yusuke, Muramatsu Hideki, Kojima Seiji, Matsuo Keitaro, Mori Minako, Hira Asuka, Takata Minoru, Yabe Hiroma |
| 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 |
| Reanalysing genomic data by normalized coverage values uncovers CNVs in bone marrow failure gene panels. NPJ genomic medicine 2019 4 30. Lauhasurayotin Supanun, Cuvelier Geoff D, Klaassen Robert J, Fernandez Conrad V, Pastore Yves D, Abish Sharon, Rayar Meera, Steele MacGregor, Jardine Lawrence, Breakey Vicky R, Brossard Josee, Sinha Roona, Silva Mariana, Goodyear Lisa, Lipton Jeffrey H, Michon Bruno, Corriveau-Bourque Catherine, Sung Lillian, Shabanova Iren, Li Hongbing, Zlateska Bozana, Dhanraj Santhosh, Cada Michaela, Scherer Stephen W, Dror Yig |
| Novel FANCA mutation in the first fully-diagnosed patient with Fanconi anemia in Polish population - case report. Molecular cytogenetics 2020 8 13 33. Repczynska Anna, Pastorczak Agata, Babol-Pokora Katarzyna, Skalska-Sadowska Jolanta, Drozniewska Malgorzata, Mlynarski Wojciech, Haus Ol |
| Exploring the Role of Mutations in Fanconi Anemia Genes in Hereditary Cancer Patients. Cancers 2020 4 12 (4): . Del Valle Jesús, Rofes Paula, Moreno-Cabrera José Marcos, López-Dóriga Adriana, Belhadj Sami, Vargas-Parra Gardenia, Teulé Àlex, Cuesta Raquel, Muñoz Xavier, Campos Olga, Salinas Mónica, de Cid Rafael, Brunet Joan, González Sara, Capellá Gabriel, Pineda Marta, Feliubadaló Lídia, Lázaro Con |
| FANCA Polymorphism Is Associated with the Rate of Proliferation in Uterine Leiomyoma in Korea. Journal of personalized medicine 2020 Nov 10 (4): . Ha Eunyoung, Lee Seungmee, Lee So Min, Jung Jeeyeon, Chung Hyewon, Choi Eunsom, Kwon Sun Young, Cha Min Ho, Shin So-J |
| A comprehensive molecular study identified 12 complementation groups with 56 novel FANC gene variants in Indian Fanconi anemia subjects. Human mutation 2021 Sep . George Merin, Solanki Avani, Chavan Niranjan, Rajendran Aruna, Raj Revathi, Mohan Sheila, Nemani Sandeep, Kanvinde Shailesh, Munirathnam Deendayalan, Rao Sudha, Radhakrishnan Nita, Lashkari Harsha Prasada, Ghildhiyal Radha Gulati, Manglani Mamta, Shanmukhaiah Chandrakala, Bhat Sunil, Ramesh Sowmyashree, Cherian Anchu, Junagade Pritesh, Vundinti Babu R |
| Clear Cell Papillary Renal Cell Carcinoma Shares Distinct Molecular Characteristics and may be Significantly Associated With Higher Risk of Developing Second Primary Malignancy. Pathology oncology research : POR 2021 9 27 1609809. Tian Xi, Xu Wen-Hao, Wu Jun-Long, Gan Hua-Lei, Wang Hong-Kai, Gu Wei-Jie, Qu Yuan-Yuan, Zhang Hai-Liang, Ye Ding-W |
| 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 |
| Nitric oxide synthase-2 (NOS2) gene polymorphism c.1832C>T (Ser608Leu) associated with nitrosative stress in Fanconi anaemia. Molecular biology reports 2021 Mar . George Merin, Solanki Avani, Mohanty Purvi, Dhangar Somprakash, Rajendran Aruna, Mohan Sheila, Vundinti Babu R |
| Fanconi anemia gene-associated germline predisposition in aplastic anemia and hematologic malignancies. Frontiers of medicine 2021 Nov . Nie Daijing, Zhang Jing, Wang Fang, Li Xvxin, Liu Lili, Zhang Wei, Cao Panxiang, Chen Xue, Zhang Yang, Chen Jiaqi, Ma Xiaoli, Zhou Xiaosu, Wu Qisheng, Liu Ming, Liu Mingyue, Tian Wenjun, Liu Hongxi |
| 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 |
| 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 |
| 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 |
| 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 |
| Fanconi Anemia Patients from an Indigenous Community in Mexico Carry a New Founder Pathogenic Variant in FANCG. International journal of molecular sciences 2022 2 23 (4): . Reyes Pedro, García-de Teresa Benilde, Juárez Ulises, Pérez-Villatoro Fernando, Fiesco-Roa Moisés O, Rodríguez Alfredo, Molina Bertha, Villarreal-Molina María Teresa, Meléndez-Zajgla Jorge, Carnevale Alessandra, Torres Leda, Frias Sa |
| 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 |
| 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 |
| Biallelic FANCA variants detected in sisters with isolated premature ovarian insufficiency. Clinical genetics 2024 5 . Elena J Tucker, Michael F Sharp, Anna Lokchine, Katrina M Bell, Catherine S Palmer, Brianna L Kline, Gorjana Robevska, Jocelyn van den Bergen, Jérôme Dulon, Diana Stojanovski, Katie L Ayers, Philippe Touraine, Wayne Crismani, Sylvie Jaillard, Andrew H Sincla |
| 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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