Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 51 Records) |
Query Trace: Syndrome and NF1[original query] |
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Identification of Mutation Regions on NF1 Responsible for High- and Low-Risk Development of Optic Pathway Glioma in Neurofibromatosis Type I. Frontiers in genetics 2018 8 9 270. Xu Min, Xiong Hui, Han Yanfang, Li Chijun, Mai Shaozhen, Huang Zhongzhou, Ai Xuechen, Guo Zhixuan, Zeng Fanqin, Guo Qi |
Impact of Patient Age on Molecular Alterations of Left-Sided Colorectal Tumors. The oncologist 2018 7 24 (3): 319-326. Puccini Alberto, Lenz Heinz-Josef, Marshall John L, Arguello David, Raghavan Derek, Korn W Michael, Weinberg Benjamin A, Poorman Kelsey, Heeke Arielle L, Philip Philip A, Shields Anthony F, Goldberg Richard M, Salem Mohamed |
Neurofibromatosis type I: mutation spectrum of NF1 in spanish patients. Annals of human genetics 2018 7 82 (6): 425-436. Palma Milla Carmen, Lezana Rosales José Miguel, López Montiel Javier, Andrés Garrido Lucas David, Sánchez Linares Carlos, Carmona Tamajón Sandra, Torres Fernández Carmen, Sánchez González Pablo, Franco Freire Sara, Benito López Carmen, López Siles Ju |
Whole exome sequencing identifies MRVI1 as a susceptibility gene for moyamoya syndrome in neurofibromatosis type 1. PloS one 2018 13 (7): e0200446. Santoro Claudia, Giugliano Teresa, Kraemer Markus, Torella Annalaura, Schwitalla Jan Claudius, Cirillo Mario, Melis Daniela, Berlit Peter, Nigro Vincenzo, Perrotta Silverio, Piluso Giul |
The molecular landscape of glioma in patients with Neurofibromatosis 1. Nature medicine 2018 12 25 (1): 176-187. D'Angelo Fulvio, Ceccarelli Michele, Tala , Garofano Luciano, Zhang Jing, Frattini Véronique, Caruso Francesca P, Lewis Genevieve, Alfaro Kristin D, Bauchet Luc, Berzero Giulia, Cachia David, Cangiano Mario, Capelle Laurent, de Groot John, DiMeco Francesco, Ducray François, Farah Walid, Finocchiaro Gaetano, Goutagny Stéphane, Kamiya-Matsuoka Carlos, Lavarino Cinzia, Loiseau Hugues, Lorgis Véronique, Marras Carlo E, McCutcheon Ian, Nam Do-Hyun, Ronchi Susanna, Saletti Veronica, Seizeur Romuald, Slopis John, Suñol Mariona, Vandenbos Fanny, Varlet Pascale, Vidaud Dominique, Watts Colin, Tabar Viviane, Reuss David E, Kim Seung-Ki, Meyronet David, Mokhtari Karima, Salvador Hector, Bhat Krishna P, Eoli Marica, Sanson Marc, Lasorella Anna, Iavarone Anton |
Prevalence, Type, and Molecular Spectrum of NF1 Mutations in Patients with Neurofibromatosis Type 1 and Congenital Heart Disease. Genes 2019 Sep 10 (9): . Pinna Valentina, Daniele Paola, Calcagni Giulio, Mariniello Lucio, Criscione Roberta, Giardina Chiara, Lepri Francesca Romana, Hozhabri Hossein, Alberico Angela, Cavone Stefania, Morella Annunziata Tina, Mandile Roberta, Annunziata Francesca, Di Giosaffatte Niccolò, D'Asdia Maria Cecilia, Versacci Paolo, Capolino Rossella, Strisciuglio Pietro, Giustini Sandra, Melis Daniela, Digilio Maria Cristina, Tartaglia Marco, Marino Bruno, De Luca Alessand |
Recommendations for Preventive Care for Women with Rare Genetic Cause of Breast and Ovarian Cancer. Klinicka onkologie : casopis Ceske a Slovenske onkologicke spolecnosti 2019 8 32 (Supplementum2): 6-13. Foretová Lenka, Navrátilová Marie, Svoboda Marek, Vaší?ková Petra, S?ahlová Eva Hrabincová, Házová Jana, Kleiblová Petra, Kleibl Zden?k, Machá?ková Eva, Palácová Markéta, Petráková Katarí |
Genomic Comparison of Endometrioid Endometrial Carcinoma and Its Precancerous Lesions in Chinese Patients by High-Depth Next Generation Sequencing. Frontiers in oncology 2019 3 9 123. Wang Yao, Yu Mei, Yang Jia-Xin, Cao Dong-Yan, Zhang Ying, Zhou Hui-Mei, Yuan Zhen, Shen Ke |
Estimated number of adult survivors of childhood cancer in United States with cancer-predisposing germline variants. Pediatric blood & cancer 2019 11 67 (2): e28047. Wilson Carmen L, Wang Zhaoming, Liu Qi, Ehrhardt Matthew J, Mostafavi Roya, Easton John, Mulder Heather, Hedges Dale J, Wang Shuoguo, Rusch Michael, Edmonson Michael, Levy Shawn, Lanctot Jennifer Q, Currie Kelsey, Lear Matthew, Patel Aman, Sapkota Yadav, Brooke Russell J, Moon Wonjong, Chang Ti-Cheng, Chen Wenan, Kesserwan Chimene A, Wu Gang, Nichols Kim E, Hudson Melissa M, Zhang Jinghui, Robison Leslie L, Yasui Yuta |
Diagnostic yield and clinical utility of a comprehensive gene panel for hereditary tumor syndromes. Hereditary cancer in clinical practice 2019 17 5. Henn Jonas, Spier Isabel, Adam Ronja S, Holzapfel Stefanie, Uhlhaas Siegfried, Kayser Katrin, Plotz Guido, Peters Sophia, Aretz Stef |
Genetics of renovascular hypertension in children. Journal of hypertension 2020 Oct 38 (10): 1964-1970. Viering Daan H H M, Chan Melanie M Y, Hoogenboom Lieke, Iancu Daniela, de Baaij Jeroen H F, Tullus Kjell, Kleta Robert, Bockenhauer Detl |
Juvenile myelomonocytic leukemia - A bona fide RASopathy syndrome. Best practice & research. Clinical haematology 2020 5 33 (2): 101171. Lasho Terra, Patnaik Mrinal |
Whole-Exome Sequencing in NF1-Related West Syndrome Leads to the Identification of KCNC2 as a Novel Candidate Gene for Epilepsy. Neuropediatrics 2020 5 51 (5): 368-372. Rademacher Annika, Schwarz Niklas, Seiffert Simone, Pendziwiat Manuela, Rohr Axel, van Baalen Andreas, Helbig Ingo, Weber Yvonne, Muhle Hiltr |
Analysis of genes within the schizophrenia-linked 22q11.2 deletion identifies interaction of night owl/LZTR1 and NF1 in GABAergic sleep control. PLoS genetics 2020 4 16 (4): e1008727. Maurer Gianna W, Malita Alina, Nagy Stanislav, Koyama Takashi, Werge Thomas M, Halberg Kenneth A, Texada Michael J, Rewitz K |
[Clinical Characteristics and Prognostic Significance of BCOR/BCORL1 Gene Mutation in Patients with Myelodysplastic Syndromes]. Zhongguo shi yan xue ye xue za zhi 2020 Dec 28 (6): 2004-2010. Cen Yan-Xia, Li Y |
Germline Cancer Predisposition Variants in?Pediatric Rhabdomyosarcoma: A Report From the Children's Oncology Group. Journal of the National Cancer Institute 2020 12 113 (7): 875-883. Li He, Sisoudiya Saumya D, Martin-Giacalone Bailey A, Khayat Michael M, Dugan-Perez Shannon, Marquez-Do Deborah A, Scheurer Michael E, Muzny Donna, Boerwinkle Eric, Gibbs Richard A, Chi Yueh-Yun, Barkauskas Donald A, Lo Tammy, Hall David, Stewart Douglas R, Schiffman Joshua D, Skapek Stephen X, Hawkins Douglas S, Plon Sharon E, Sabo Aniko, Lupo Philip |
Clinical variability of neurofibromatosis 1: A modifying role of cooccurring PTPN11 variants and atypical brain MRI findings. Clinical genetics 2021 8 100 (5): 563-572. D'Amico Alessandra, Rosano Carmen, Pannone Luca, Pinna Valentina, Assunto Antonia, Motta Marialetizia, Ugga Lorenzo, Daniele Paola, Mandile Roberta, Mariniello Lucio, Siano Maria Anna, Santoro Claudia, Piluso Giulio, Martinelli Simone, Strisciuglio Pietro, De Luca Alessandro, Tartaglia Marco, Melis Danie |
Implications of mosaicism in variant interpretation: A case of a de novo homozygous NF1 variant. European journal of medical genetics 2021 5 64 (7): 104236. Alghamdi Malak, Monies Dorota, Alsohime Fahad, Temsah Hani, Almodaihsh Fahad, Aldawasri Mana, Alsultan Abdulrahman, Alkuraya Fowzan |
Juvenile xanthogranuloma in Noonan syndrome. American journal of medical genetics. Part A 2021 5 185 (10): 3048-3052. Ali Marwan M, Gilliam Amy E, Ruben Beth S, Tidyman William E, Rauen Katherine |
Pseudohypoxic pheochromocytomas and paragangliomas dominate in children. Pediatric blood & cancer 2021 3 68 (7): e28981. Redlich Antje, Pamporaki Christina, Lessel Lienhard, Frühwald Michael C, Vorwerk Peter, Kuhlen Michae |
Primary central nervous system sarcoma with DICER1 mutation-treatment results of a novel molecular entity in pediatric Peruvian patients. Cancer 2021 Oct . Diaz Coronado Rosdali Y, Mynarek Martin, Koelsche Christian, Mora Alferez Pamela, Casavilca Zambrano Sandro, Wachtel Aptowitzer Antonio, Sahm Felix, von Deimling Andreas, Schüller Ulrich, Spohn Michael, Sturm Dominik, Pfister Stefan M, Morales La Madrid Andres, Sernaque Quintana Raymundo, Sarria Bardales Gustavo, Negreiros Chinchihuara Tatiana, Ojeda Medina Luis, Garcia-Corrochano Medina Pamela, Campos Sanchez Danny A, Ponce Farfan Jimena, Rutkowski Stefan, Garcia Leon Juan |
Survival and NF1 Analysis in a Cohort of Orthopedics Patients with Malignant Peripheral Nerve Sheath Tumors. Sarcoma 2021 10 2021 9386823. Knewitz Daniel K, Anderson Colin J, Presley William T, Horodyski MaryBeth, Scarborough Mark T, Wallace Margaret |
A Novel Prognostic Scoring Model for Myelodysplastic Syndrome Patients With SF3B1 Mutation. Frontiers in oncology 2022 7 12 905490. Ma Liya, Liang Bin, Hu Huixian, Yang Wenli, Lin Shengyun, Cao Lihong, Li Kongfei, Kuang Yuemin, Shou Lihong, Jin Weimei, Lan Jianping, Ye Xingnong, Le Jing, Lei Huyi, Fu Jiaping, Lin Ying, Jiang Wenhua, Zheng Zhiying, Jiang Songfu, Fu Lijuan, Su Chuanyong, Yin XiuFeng, Liu Lixia, Qin Jiayue, Jin Jie, Qian Shenxian, Ouyang Guifang, Tong Hongy |
Identification of Germline Mutations in Upper Tract Urothelial Carcinoma With Suspected Lynch Syndrome. Frontiers in oncology 2022 4 12 774202. Guan Bao, Wang Jie, Li Xuesong, Lin Lin, Fang Dong, Kong Wenwen, Tian Chuangyu, Li Juan, Yang Kunlin, Han Guanpeng, Wu Yucai, He Yuhui, Peng Yiji, Yu Yanfei, He Qun, He Shiming, Gong Yanqing, Zhou Liqun, Tang |
[Genetic analysis of two children with sporadic neurofibromatosis type 1 complicated with nephrotic syndrome]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2022 12 39 (12): 1349-1353. Liu Zhufeng, Wang Wenhong, Guo Zhen, Zhao Linsheng, Wu Xia, Liu Tao, Han Tingti |
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, |
Clinical and genetic evaluation of children with short stature of unknown origin. BMC medical genomics 2023 8 16 (1): 194. Qianqian Zhao, Yanying Li, Qian Shao, Chuanpeng Zhang, Shuang Kou, Wanling Yang, Mei Zhang, Bo B |
Neurofibromatosis-1 Gene Mutational Profiles Differ Between Syndromic Disease and Sporadic Cancers. Neurology. Genetics 2023 7 8 (4): e200003. Alice F Bewley, Titilope M Akinwe, Tychele N Turner, David H Gutma |
Detecting Low-Variant Allele Frequency Mosaic Pathogenic Variants of NF1, TSC2, and AKT3 Genes from Blood in Patients with Neurodevelopmental Disorders. The Journal of molecular diagnostics : JMD 2023 4 . Se Hee Kim, Soon Sung Kwon, Mi Ri Park, Hyeon Ah Lee, Ji Hun Kim, JiHoon Cha, Sangwoo Kim, Seung Tae Baek, Se Hoon Kim, Joon Soo Lee, Heung Dong Kim, Jong Rak Choi, Seung-Tae Lee, Hoon-Chul Ka |
Identification of germline cancer predisposition variants in pediatric sarcoma patients from somatic tumor testing. Scientific reports 2023 2 13 (1): 2959. Alba-Pavón Piedad, Alaña Lide, Gutierrez-Jimeno Miriam, García-Obregón Susana, Imízcoz Teresa, Panizo Elena, González-Urdiales Paula, Echebarria-Barona Aizpea, Lopez Almaraz Ricardo, Zaldumbide Laura, Astigarraga Itziar, Patiño-García Ana, Villate Ola |
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- Page last updated:Apr 29, 2024
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