Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 30 (of 167 Records) |
Query Trace: Retinoblastoma[original query] |
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Germline RB1 Mutation in Retinoblastoma Patients: Detection Methods and Implication in Tumor Focality. Translational vision science & technology 2022 9 11 (9): 30. Rojanaporn Duangnate, Chitphuk Sermsiri, Iemwimangsa Nareenart, Chareonsirisuthigul Takol, Saengwimol Duangporn, Aroonroch Rangsima, Anurathathapan Usanarat, Hongeng Suradej, Kaewkhaw Rossuk |
Palbociclib Rechallenge for Hormone Receptor-Positive/HER-Negative Advanced Breast Cancer: Findings from the Phase II BioPER Trial. Clinical cancer research : an official journal of the American Association for Cancer Research 2022 9 29 (1): 67-80. Albanell Joan, Pérez-García José Manuel, Gil-Gil Miguel, Curigliano Giuseppe, Ruíz-Borrego Manuel, Comerma Laura, Gibert Joan, Bellet Meritxell, Bermejo Begoña, Calvo Lourdes, de la Haba Juan, Espinosa Enrique, Minisini Alessandro Marco, Quiroga Vanesa, Santaballa Bertran Ana, Mina Leonardo, Bellosillo Beatriz, Rojo Federico, Menéndez Silvia, Sampayo-Cordero Miguel, Popa Crina, Malfettone Andrea, Cortés Javier, Llombart-Cussac Anton |
Follow-up of intraocular retinoblastoma through the quantitative analysis of conserved nuclear DNA sequences in aqueous humor from patients. The journal of pathology. Clinical research 2022 9 9 (1): 32-43. Cuadrado-Vilanova Maria, Burgueño Victor, Balaguer-Lluna Leire, Aschero Rosario, Castillo-Ecija Helena, Liu Jing, Perez-Jaume Sara, Pascual-Pasto Guillem, Olaciregui Nagore G, Gomez-Gonzalez Soledad, Correa Genoveva, Suñol Mariona, Schaiquevich Paula, Radvanyi François, Lavarino Cinzia, Mora Jaume, Catala-Mora Jaume, Chantada Guillermo L, Carcaboso Angel |
Landscape of RB1 alterations in 22,432 Chinese solid tumor patients. Annals of translational medicine 2022 9 10 (16): 885. Xu Guanghui, Zheng Jiyang, Wang Shu, Wang Yuhao, Li Guixiang, Wang Nan, She Xueke, Duan Weiming, Zhang Hushan, Huang Depei, Bei Ting, Fu Dan, Yang Jianj |
Spectrum and tissue distribution of RB1 pathogenic alleles in mosaic retinoblastoma patients. Ophthalmic genetics 2022 Aug 1-11. Zhang Yan, Wei Wen-Bin, Zhao Junyang, Xu Xiaolin, Wang Fufe |
Identification of novel genes by targeted exome sequencing in Retinoblastoma. Ophthalmic genetics 2022 8 43 (6): 771-788. Bisht Shilpa, Chawla Bhavna, Kumar Amit, Vijayan Viswanathan, Kumar Manoj, Sharma Pradeep, Dada Ri |
Diverse mutational spectrum in the 13q14 chromosomal region in a Brazilian cohort of retinoblastoma. Experimental eye research 2022 8 224 109211. Mendonça Vanessa, Pereira Sena Priscila, Evangelista Dos Santos Anna Claudia, Rodrigues Bonvicino Cibele, Ashton-Prolla Patricia, Epelman Sidnei, Ferman Sima Esther, Lapunzina Pablo, Nevado Julián, Grigorovski Nathalia, Mattosinho Clarissa, Seuànez Hector, Regla Vargas Fernan |
Retinoblastoma in Adults: Clinical Features, Gene Mutations and Treatment Outcomes: A Study of Six Cases. Frontiers in oncology 2022 8 12 835965. Zhou Nan, Yang Lihong, Xu Xiaolin, Liu Yueming, Wei Wenb |
Five novel RB1 gene mutations and genotype-phenotype correlations in Chinese children with retinoblastoma. International ophthalmology 2022 8 42 (11): 3421-3430. Li Luting, Li Haibo, Zhang Jing, Gan Hairun, Liu Ruihong, Hu Xinyan, Pang Pengfei, Li Bi |
Deconstructing ADAURA: It is Time to Forgo Adjuvant Platinum-Based Chemotherapy in Resected IB-IIIA EGFR+ NSCLC (Except with RB Alterations?) When Adopting Adjuvant Osimertinib. Lung Cancer (Auckland, N.Z.) 2022 5 13 23-31. Zhang Shannon S, Ou Sai-Hong Ignati |
Aqueous humor as a surrogate biomarker for retinoblastoma tumor tissue. Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus 2022 5 26 (3): 137.e1-137.e5. Raval Vishal, Racher Hilary, Wrenn Jacquelyn, Singh Arun |
Co-expression patterns explain how a basic transcriptional role for MYC modulates Wnt and MAPK pathways in colon and lung adenocarcinomas. Cell cycle (Georgetown, Tex.) 2022 4 21 (15): 1619-1638. Kucherlapati Melanie Ha |
The role of maternal age & birth order on the development of unilateral and bilateral retinoblastoma: a multicentre study. Eye (London, England) 2022 4 . Lloyd Philippa, Westcott Mark, Kaliki Swathi, Ji Xunda, Zou Yihua, Rashid Riffat, Sultana Sadia, Sherief Sadik Taju, Cassoux Nathalie, Diaz Coronado Rosdali Yesenia, Garcia Leon Juan Luis, López Arturo Manuel Zapata, Polyakov Vladimir G, Ushakova Tatiana L, Roy Soma Rani, Ahmad Alia, Harby Lamis Al, Berry Jesse L, Kim Jonathan, Polski Ashley, Astbury Nicholas J, Bascaran Covadonga, Blum Sharon, Bowman Richard, Burton Matthew J, Foster Allen, Gomel Nir, Keren-Froim Naama, Madgar Shiran, Stacey Andrew W, Mohamed Ashik, Zondervan Marcia, Sagoo Mandeep S, Fabian Ido Didi, Reddy M Ashw |
A multicenter-retrospective study of non-small-cell lung carcinoma harboring uncommon epidermal growth factor receptor (EGFR) mutations: different subtypes of EGFR exon 19 deletion-insertions exhibit the clinical characteristics and prognosis of non-small cell lung carcinoma. Translational lung cancer research 2022 3 11 (2): 238-249. Chen Ying, Xu Jinhe, Zhang Lei, Song Yingfang, Wen Wen, Lu Jun, Zhao Zhongquan, Kong Wencui, Liu Wei, Guo Aiping, Santarpia Mariacarmela, Yamada Tadaaki, Cai Xiuyu, Yu Zongya |
RB1 gene mutations and genetic spectrum in retinoblastoma cases. Medicine 2023 9 102 (36): e35068. Demet Akdeniz Odemis, Rejin Kebudi, Jamila Bayramova, Seda Kilic Erciyas, Gozde Kuru Turkcan, Seref Bugra Tuncer, Ozge Sukruoglu Erdogan, Betul Celik, Busra Kurt Gultaslar, Sema Buyukkapu Bay, Samuray Tuncer, Hulya Yazi |
Clinical and genetic characteristics of retinoblastoma patients in a single center with four novel RB1 variants. International journal of ophthalmology 2023 8 16 (8): 1274-1279. Özge Vural, Hatice Tuba Atalay, Gulsum Kayhan, Bercin Tarlan, Merve Oral, Arzu Okur, Faruk Güçlü P?narl?, Ceyda Karaden |
Clinical trio genome sequencing facilitates the interpretation of variants in cancer predisposition genes in paediatric tumour patients. European journal of human genetics : EJHG 2023 7 . Christopher Schroeder, Ulrike Faust, Luisa Krauße, Alexandra Liebmann, Michael Abele, German Demidov, Leon Schütz, Olga Kelemen, Alexandra Pohle, Silja Gauß, Marc Sturm, Cristiana Roggia, Monika Streiter, Rebecca Buchert, Sorin Armenau-Ebinger, Dominik Nann, Rudi Beschorner, Rupert Handgretinger, Martin Ebinger, Peter Lang, Ursula Holzer, Julia Skokowa, Stephan Ossowski, Tobias B Haack, Ulrike A Mau-Holzmann, Andreas Dufke, Olaf Riess, Ines B Brec |
Repeatedly next-generation sequencing during treatment follow-up of patients with small cell lung cancer. Medicine 2023 6 102 (26): e34143. Yin JiaXin, Cong XiaoFeng, Cui PengFei, Zhao Songchen, Liu Zili |
Assessment of Cancer Predisposition Syndromes in a National Cohort of Children With a Neoplasm. JAMA network open 2023 2 6 (2): e2254157. Bakhuizen Jette J, Hopman Saskia M J, Bosscha Machteld I, Dommering Charlotte J, van den Heuvel-Eibrink Marry M, Hol Janna A, Kester Lennart A, Koudijs Marco J, Langenberg Karin P S, Loeffen Jan L C, van der Lugt Jasper, Moll Annette C, van Noesel Max M, Smetsers Stephanie E, de Vos-Kerkhof Evelien, Merks Johannes H M, Kuiper Roland P, Jongmans Marjolijn C |
De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases. Investigative ophthalmology & visual science 2023 2 64 (2): 5. Li Wei, He Xiang-Dong, Yang Zheng-Tao, Han Dong-Ming, Sun Yan, Chen Yan-Xian, Han Xiao-Tong, Guo Si-Cheng, Ma Yu-Ting, Jin Xin, Yang Huan-Ming, Gao Ya, Wang Zhuo-Shi, Li Jian-Kang, He W |
Serum Metabolomics of Retinoblastoma: Assessing the Differential Serum Metabolic Signatures of Unilateral and Bilateral Patients. ACS omega 2023 12 8 (50): 48233-48250. Khushboo Gulati, Radhika Manukonda, Manikyaprabhu Kairamkonda, Swathi Kaliki, Krishna Mohan Polu |
Investigation of the methylation changes in the promoter region of RB1 gene in retinoblastoma: Unraveling the epigenetic puzzle in retinoblastoma. Pathology, research and practice 2023 11 253 154939. Özge ?ükrüo?lu Erdo?an, Demet Akdeniz Ödemi?, Zübeyde Yaln?z Kay?m, Orkun Gürbüz, ?eref Bu?ra Tunçer, Seda K?l?ç, Betül Çelik, Samuray Tuncer, Sema Büyükkapu Bay, Rejin Kebudi, Hülya Yaz? |
Understanding the killer-cell immunoglobulin like receptor polymorphism in retinoblastoma. Ophthalmic genetics 2023 1 44 (1): 1-5. Aggarwal Ritu, Sharma Madhulika, Singh Usha, Poulton Kay, Bhatia Tanvi, Mangat Navdeep, Kakkar Nandita, Bansal Deep |
Association of RB1 rs9568036 and CDKN1A rs1801270 Polymorphisms with Retinoblastoma Susceptibility. Journal of current ophthalmology 2023 1 34 (3): 328-332. Azimi Fatemeh, Naseripour Masood, Sedaghat Ahad, Kachoei Zohre Ataei, Khakpoor Goln |
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 |
Integrative multi-omic profiling of triple-negative breast cancer for identifying suitable therapies. Clinical cancer research : an official journal of the American Association for Cancer Research 2024 8 . Bojana Jovanovic, Sarah E Church, Kara M Gorman, Khrystyna North, Edward T Richardson, Molly DiLullo, Victoria Attaya, Julie Kasparian, Ayesha Mohammed-Abreu, Gregory Kirkner, Melissa E Hughes, Nancy U Lin, Elizabeth A Mittendorf, Stuart J Schnitt, Sara M Tolaney, Shom Go |
RB1 circulating-tumor DNA in the blood of Retinoblastoma patients increases in untreated patients. Retina (Philadelphia, Pa.) 2024 8 . Rebecca F Silverman, Jasmine H Francis, Melissa A Robbins, Ira J Dunkel, David H Abrams |
Integrative genomic analysis reveals cancer-associated mutations in patients with ophthalmic tumors. The Journal of international medical research 2024 7 52 (7): 3000605241258171. Fengjiao Zhu, Pengpeng Wang, Zhiyuan Zhang, Chunlei Yao, Yijie Wang, Juan Ye, Jian |
Collateral damage of NUDT15 deficiency in cancer provides a cancer pharmacogenetic therapeutic window with thiopurines. bioRxiv : the preprint server for biology 2024 4 . Jacob C Massey, Joseph Magagnoli, S Scott Sutton, Phillip J Buckhaults, Michael D Wya |
Circulating Tumor DNA Posttreatment Measurements and Clinical Correlates in Retinoblastoma. JAMA ophthalmology 2024 2 . David H Abramson, Melissa A Robbins, Y Pierre Gobin, Ira J Dunkel, Jasmine H Franc |
- Page last reviewed:Feb 1, 2024
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