Human Genome Epidemiology Literature Finder
Records 1 - 24 (of 24 Records) |
Query Trace: RECQL4[original query] |
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Radiographic abnormalities in Rothmund-Thomson syndrome and genotype-phenotype correlation with RECQL4 mutation status. AJR. American journal of roentgenology 2008 Aug 191 (2): W62-6. Mehollin-Ray Amy R, Kozinetz Claudia A, Schlesinger Alan E, Guillerman R Paul, Wang Lisa |
Variants in DNA double-strand break repair and DNA damage-response genes and susceptibility to lung and head and neck cancers. International journal of cancer. Journal international du cancer 2008 Jul 123 (2): 457-63. Danoy Patrick, Michiels Stefan, Dessen Philippe, Pignat Cécile, Boulet Thomas, Monet Marion, Bouchardy Christine, Lathrop Mark, Sarasin Alain, Benhamou Simo |
DNA-repair gene variants are associated with glioblastoma survival. Acta oncologica (Stockholm, Sweden) 2012 Mar 51 (3): 325-32. Wibom Carl, Sjöström Sara, Henriksson Roger, Brännström Thomas, Broholm Helle, Rydén Patrik, Johansen Christoffer, Collatz-Laier Helle, Hepworth Sara, McKinney Patricia A, Bethke Lara, Houlston Richard S, Andersson Ulrika, Melin Beatrice |
On the interplay of telomeres, nevi and the risk of melanoma. PloS one 2012 7 (12): e52466. Bodelon Clara, Pfeiffer Ruth M, Bollati Valentina, Debbache Julien, Calista Donato, Ghiorzo Paola, Fargnoli Maria Concetta, Bianchi-Scarra Giovanna, Peris Ketty, Hoxha Mirjam, Hutchinson Amy, Burdette Laurie, Burke Laura, Fang Shenying, Tucker Margaret A, Goldstein Alisa M, Lee Jeffrey E, Wei Qingyi, Savage Sharon A, Yang Xiaohong R, Amos Christopher, Landi Maria Tere |
Genetic alterations of chromosome 8 genes in oral cancer. Scientific reports 2014 4 6073. Yong Zachary Wei Ern, Zaini Zuraiza Mohamad, Kallarakkal Thomas George, Karen-Ng Lee Peng, Rahman Zainal Ariff Abdul, Ismail Siti Mazlipah, Sharifah Noor Akmal, Mustafa Wan Mahadzir Wan, Abraham Mannil Thomas, Tay Keng Kiong, Zain Rosnah Bin |
Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene. Molecular genetics & genomic medicine 2016 May 4 (3): 359-66. Suter Aude-Annick, Itin Peter, Heinimann Karl, Ahmed Munaza, Ashraf Tazeen, Fryssira Helen, Kini Usha, Lapunzina Pablo, Miny Peter, Sommerlund Mette, Suri Mohnish, Vaeth Signe, Vasudevan Pradeep, Gallati Sabi |
Targeted next generation sequencing identifies functionally deleterious germline mutations in novel genes in early-onset/familial prostate cancer. PLoS genetics 2018 Apr 14 (4): e1007355. Paulo Paula, Maia Sofia, Pinto Carla, Pinto Pedro, Monteiro Augusta, Peixoto Ana, Teixeira Manuel |
Multigene panel testing beyond BRCA1/2 in breast/ovarian cancer Spanish families and clinical actionability of findings. Journal of cancer research and clinical oncology 2018 10 144 (12): 2495-2513. Bonache Sandra, Esteban Irene, Moles-Fernández Alejandro, Tenés Anna, Duran-Lozano Laura, Montalban Gemma, Bach Vanessa, Carrasco Estela, Gadea Neus, López-Fernández Adrià, Torres-Esquius Sara, Mancuso Francesco, Caratú Ginevra, Vivancos Ana, Tuset Noemí, Balmaña Judith, Gutiérrez-Enríquez Sara, Diez Orla |
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 |
Werner Syndrome Protein Expression in Breast Cancer. Clinical breast cancer 2020 9 21 (1): 57-73.e7. Savva Constantinos, Sadiq Maaz, Sheikh Omar, Karim Syed, Trivedi Sachin, Green Andrew R, Rakha Emad A, Madhusudan Srinivasan, Arora Arvi |
High-Throughput Sequencing of Gastric Cancer Patients: Unravelling Genetic Predispositions Towards an Early-Onset Subtype. Cancers 2020 7 12 (7): . Machlowska Julita, Kapusta Przemys?aw, Baj Jacek, Morsink Folkert H M, Wo?kow Pawe?, Maciejewski Ryszard, Offerhaus G Johan A, Sitarz Robe |
Genetic basis of relapsing polychondritis revealed by family-based whole-exome sequencing. International journal of rheumatic diseases 2020 2 23 (5): 641-646. Feng Junmei, Zuo Xiaoyu, Gui Lian, Qi Jun, Guo Xinghua, Lv Qing, Zhang Yanli, Fang Linkai, Zhang Xi, Gu Jieruo, Lin Zhimi |
Somatic alterations and mutational burden are potential predictive factors for metachronous development of early gastric cancer. Scientific reports 2020 12 10 (1): 22071. Sakuta Kazuhiro, Sasaki Yu, Abe Yasuhiko, Sato Hidenori, Shoji Masakuni, Yaoita Takao, Yagi Makoto, Mizumoto Naoko, Onozato Yusuke, Kon Takashi, Koseki Ayumi, Sato Sonoko, Murakami Ryoko, Miyano Yuki, Ueno Yoshiyu |
Pathogenic germline variants are associated with poor survival in stage III/IV melanoma patients. Scientific reports 2020 Oct 10 (1): 17687. Aoude Lauren G, Bonazzi Vanessa F, Brosda Sandra, Patel Kalpana, Koufariotis Lambros T, Oey Harald, Nones Katia, Wood Scott, Pearson John V, Lonie James M, Arneil Melissa, Atkinson Victoria, Smithers B Mark, Waddell Nicola, Barbour Andrew |
Increased Cancer Prevalence in Peripartum Cardiomyopathy. JACC. CardioOncology 2021 8 1 (2): 196-205. Pfeffer Tobias J, Schlothauer Stella, Pietzsch Stefan, Schaufelberger Maria, Auber Bernd, Ricke-Hoch Melanie, List Manuel, Berliner Dominik, Abou Moulig Valeska, König Tobias, Arany Zolt, Sliwa Karen, Bauersachs Johann, Hilfiker-Kleiner Deni |
Genetic differences between lung metastases and liver metastases from left-sided microsatellite stable colorectal cancer: next generation sequencing and clinical implications. Annals of translational medicine 2021 Jun 9 (12): 967. Wang Zhenghang, Zheng Xue, Wang Xicheng, Chen Yawei, Li Zhongwu, Yu Jianing, Yang Wanning, Mao Beibei, Zhang Henghui, Li Jian, Shen L |
Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer. Frontiers in oncology 2021 11 637431. Zeng Bing, Huang Peide, Du Peina, Sun Xiaohui, Huang Xuanlin, Fang Xiaodong, Li L |
Untangling the clinicopathological significance of MRE11-RAD50-NBS1 complex in sporadic breast cancers. NPJ breast cancer 2021 Nov 7 (1): 143. Alblihy Adel, Shoqafi Ahmed, Toss Michael S, Algethami Mashael, Harris Anna E, Jeyapalan Jennie N, Abdel-Fatah Tarek, Servante Juliette, Chan Stephen Y T, Green Andrew, Mongan Nigel P, Rakha Emad A, Madhusudan Srinivas |
Multigene Panel Sequencing Identifies a Novel Germline Mutation Profile in Male Breast Cancer Patients. International journal of molecular sciences 2023 9 24 (18): . Ayman Al Saati, Pierre Vande Perre, Julien Plenecassagnes, Julia Gilhodes, Nils Monselet, Bastien Cabarrou, Norbert Lignon, Thomas Filleron, Dominique Telly, Emilie Perello-Lestrade, Viviane Feillel, Anne Staub, Mathilde Martinez, Edith Chipoulet, Gaëlle Collet, Fabienne Thomas, Laurence Gladieff, Christine Toul |
A Novel Germline Pathogenic Variant of RECQL4 Gene in an Iranian Pedigree with Familial Squamous Cell Carcinoma: A Brief Report. Iranian journal of medical sciences 2023 7 48 (4): 420-424. Mina Amin, Elaheh Mahmoodi-Khaledi, Sina Narrei, Mehrdad Zeinali |
Multiregional Sequencing Analysis Reveals Extensive Genetic Heterogeneity in Gastric Tumors from Latinos. Cancer research communications 2023 3 2 (11): 1487-1496. Toal Ted W, Estrada-Florez Ana P, Polanco-Echeverry Guadalupe M, Sahasrabudhe Ruta M, Lott Paul C, Suarez-Olaya John J, Guevara-Tique Alix A, Rocha Sienna, Morales-Arana Alexa, Castro-Valencia Fabian, Urayama Shiro, Kirane Amanda, Wei Dongguang, Rios-Sarabia Nora, Medrano Rafael, Mantilla Alejandra, Echeverry de Polanco Magdalena, Torres Javier, Bohorquez-Lozano Mabel E, Carvajal-Carmona Luis |
Recurrent Somatic Copy Number Alterations and Their Association with Oncogene Expression Levels in High-Grade Ovarian Serous Carcinoma. Life (Basel, Switzerland) 2023 11 13 (11): . Hillary P Esplen, Richard K Yang, Awdhesh Kalia, Zhenya Tang, Guilin Tang, L Jeffrey Medeiros, Gokce A Torun |
BRCA2, PALB2, RECQL4 Germline Pathogenic Variants, and Somatic TP53 Mutation in Triple Metachronous Malignancies: A Case Report and Literature Review. International medical case reports journal 2024 1 17 23-29. Yang Liu, Hui Yang, Xueshu Fu, Luting Zhong, Ping Xu, Fang Fang, Ying Liu, Qing Li, Ya'nan Yan, Shanchuang Wei, Junqing Wang, Chunhua Zha |
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- Page last updated:Apr 16, 2024
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