Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 82 Records) |
Query Trace: RAF1[original query] |
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Clinical and molecular characterization of children with Noonan syndrome and other RASopathies in Argentina. Archivos argentinos de pediatria 2019 9 117 (5): 330-337. Chinton Josefina, Huckstadt Victoria, Moresco Angélica, Gravina L Pablo, Obregon M Gabrie |
SOS1 mutations in Noonan syndrome: Cardiomyopathies and not only congenital heart defects! Report of six patients including two novel variants and literature review. American journal of medical genetics. Part A 2019 8 179 (10): 2083-2090. Baban Anwar, Olivini Nicole, Lepri Francesca Romana, Calì Federica, Mucciolo Mafalda, Digilio Maria C, Calcagni Giulio, di Mambro Corrado, Dallapiccola Bruno, Adorisio Rachele, Novelli Antonio, Drago Fabriz |
Genetic architecture and adaptations of Nunavik Inuit. Proceedings of the National Academy of Sciences of the United States of America 2019 7 116 (32): 16012-16017. Zhou Sirui, Xie Pingxing, Quoibion Amélie, Ambalavanan Amirthagowri, Dionne-Laporte Alexandre, Spiegelman Dan, Bourassa Cynthia V, Xiong Lan, Dion Patrick A, Rouleau Guy |
Providing more evidence on LZTR1 variants in Noonan syndrome patients. American journal of medical genetics. Part A 2019 Dec . Chinton Josefina, Huckstadt Victoria, Mucciolo Mafalda, Lepri Francesca, Novelli Antonio, Gravina Luis Pablo, Obregon María Gabrie |
The extended spectrum of RAS-MAPK pathway mutations in colorectal cancer. Genes, chromosomes & cancer 2019 Oct . Costigan Danielle C, Dong F |
Induction of PIK3CA alterations during neoadjuvant letrozole may improve outcome in postmenopausal breast cancer patients. Breast cancer research and treatment 2020 Aug . Skriver Signe Korsgaard, Jensen Maj-Britt, Eriksen Jens-Ole, Ahlborn Lise Barlebo, Knoop Ann Soegaard, Rossing Maria, Ejlertsen Bent, Laenkholm Anne-Vibe |
Biology and grading of pleomorphic xanthoastrocytoma-what have we learned about it? Brain pathology (Zurich, Switzerland) 2020 Jul . Vaubel Rachael, Zschernack Valentina, Tran Quynh T, Jenkins Sarah, Caron Alissa, Milosevic Dragana, Smadbeck James, Vasmatzis George, Kandels Daniela, Gnekow Astrid, Kramm Christof, Jenkins Robert, Kipp Benjamin R, Rodriguez Fausto J, Orr Brent A, Pietsch Torsten, Giannini Cateri |
Circulating Tumor DNA Is Capable of Monitoring the Therapeutic Response and Resistance in Advanced Colorectal Cancer Patients Undergoing Combined Target and Chemotherapy. Frontiers in oncology 2020 4 10 466. Cao Hua, Liu Xinyi, Chen Yixin, Yang Pan, Huang Tanxiao, Song Lele, Xu Ruili |
Phenotype-genotype analysis of 242 individuals with RASopathies: 18-year experience of a tertiary center in Brazil. American journal of medical genetics. Part C, Seminars in medical genetics 2020 10 184 (4): 896-911. Bertola Débora R, Castro Matheus A A, Yamamoto Guilherme L, Honjo Rachel S, Ceroni José Ricardo, Buscarilli Michele M, Freitas Amanda B, Malaquias Alexsandra C, Pereira Alexandre C, Jorge Alexander A L, Passos-Bueno Maria Rita, Kim Chong |
Retrospective Case Series Analysis of RAF Family Alterations in Pancreatic Cancer: Real-World Outcomes From Targeted and Standard Therapies. JCO precision oncology 2021 9 5 . Hendifar Andrew, Blais Edik M, Wolpin Brian, Subbiah Vivek, Collisson Eric, Singh Isha, Cannon Timothy, Shaw Kenna, Petricoin Emanuel F, Klempner Samuel, Lyons Emily, Wang-Gillam Andrea, Pishvaian Michael J, O'Reilly Eileen |
A 5-Genomic Mutation Signature Can Predict the Survival for Patients With NSCLC Receiving Atezolizumab. Frontiers in immunology 2021 7 12 606027. Lin Jiamao, Wang Xiaohui, Zhang Chenyue, Bu Shuai, Zhao Chenglong, Wang Haiyo |
When to test fetuses for RASopathies? Proposition from a systematic analysis of 352 multicenter cases and a postnatal cohort. Genetics in medicine : official journal of the American College of Medical Genetics 2021 2 23 (6): 1116-1124. Scott Alexandra, Di Giosaffatte Niccolò, Pinna Valentina, Daniele Paola, Corno Sara, D'Ambrosio Valentina, Andreucci Elena, Marozza Annabella, Sirchia Fabio, Tortora Giada, Mangiameli Daniela, Di Marco Chiara, Romagnoli Maria, Donati Ilaria, Zonta Andrea, Grosso Enrico, Naretto Valeria Giorgia, Mastromoro Gioia, Versacci Paolo, Pantaleoni Francesca, Radio Francesca Clementina, Mazza Tommaso, Damante Giuseppe, Papi Laura, Mattina Teresa, Giancotti Antonella, Pizzuti Antonio, Laberge Anne-Marie, Tartaglia Marco, Delrue Marie-Ange, De Luca Alessand |
RASopathies and hemostatic abnormalities: key role of platelet dysfunction. Orphanet journal of rare diseases 2021 12 16 (1): 499. Di Candia Francesca, Marchetti Valeria, Cirillo Ferdinando, Di Minno Alessandro, Rosano Carmen, Pagano Stefano, Siano Maria Anna, Falco Mariateresa, Assunto Antonia, Boccia Giovanni, Magliacane Gerardo, Pinna Valentina, De Luca Alessandro, Tartaglia Marco, Di Minno Giovanni, Strisciuglio Pietro, Melis Danie |
Elevated serum CEA is associated with liver metastasis and distinctive circulating tumor DNA alterations in patients with castration-resistant prostate cancer. The Prostate 2022 6 82 (13): 1264-1272. Bray Alexander W, Duan Rong, Malalur Pannaga, Drusbosky Leylah M, Gourdin Theodore S, Hill Elizabeth G, Lilly Michael |
Mutational landscape of gastric adenocarcinoma in Latin America: A genetic approach for precision medicine. Genes & diseases 2022 6 9 (4): 928-940. Cerrato-Izaguirre Dennis, Chirino Yolanda I, García-Cuellar Claudia M, Santibáñez-Andrade Miguel, Prada Diddier, Hernández-Guerrero Angélica, Larraga Octavio Alonso, Camacho Javier, Sánchez-Pérez Yesenn |
The Genetic Architecture of Hypertrophic Cardiomyopathy in Hungary: Analysis of 242 Patients with a Panel of 98 Genes. Diagnostics (Basel, Switzerland) 2022 May 12 (5): . Sepp Róbert, Hategan Lidia, Csányi Beáta, Borbás János, Tringer Annamária, Pálinkás Eszter Dalma, Nagy Viktória, Takács Hedvig, Latinovics Dóra, Nyolczas Noémi, Pálinkás Attila, Faludi Réka, Rábai Miklós, Szabó Gábor Tamás, Czuriga Dániel, Balogh László, Halmosi Róbert, Borbély Attila, Habon Tamás, Heged?s Zoltán, Nagy Istv |
In-Silico and In-Vitro Analysis of Human SOS1 Protein Causing Noonan Syndrome - A Novel Approach to Explore the Molecular Pathways. Current genomics 2022 4 22 (7): 526-540. Sigamani Vinoth, Rajasingh Sheeja, Gurusamy Narasimman, Panda Arunima, Rajasingh Johns |
Molecular landscape of osimertinib resistance in patients and patient-derived preclinical models. Therapeutic advances in medical oncology 2022 3 14 17588359221079125. Lim Sun Min, Yang San-Duk, Lim Sangbin, Heo Seong Gu, Daniel Stetson, Markovets Aleksandra, Minoo Rafati, Pyo Kyoung-Ho, Yun Mi Ran, Hong Min Hee, Kim Hye Ryun, Cho Byoung Ch |
Insights into the Cross Talk between Effector and Allosteric Lobes of KRAS from Methyl Conformational Dynamics. Journal of the American Chemical Society 2022 2 144 (9): 4196-4205. Chao Fa-An, Dharmaiah Srisathiyanarayanan, Taylor Troy, Messing Simon, Gillette William, Esposito Dominic, Nissley Dwight V, McCormick Frank, Byrd R Andrew, Simanshu Dhirendra K, Cornilescu Gabri |
New insights on Noonan syndrome's clinical phenotype: a single center retrospective study. BMC pediatrics 2022 12 22 (1): 734. Baldo Francesco, Fachin Alice, Da Re Beatrice, Rubinato Elisa, Bobbo Marco, Barbi Egid |
Molecular and clinical profile of patients referred as Noonan or Noonan-like syndrome in Greece: a cohort of 86 patients. European journal of pediatrics 2022 Oct 181 (10): 3691-3700. Papadopoulos George, Papadopoulou Anna, Kosma Konstantina, Papadimitriou Anastasios, Papaevangelou Vassiliki, Kanaka-Gantenbein Christina, Bountouvi Evangelia, Kitsiou-Tzeli Soph |
The spectrum of MAPK-ERK pathway genomic alterations in gynecologic malignancies: Opportunities for novel therapeutic approaches. Gynecologic oncology 2023 9 177 86-94. Dimitrios Nasioudis, Marta Llaurado Fernandez, Nelson Wong, Daniel J Powell, Gordon B Mills, Shannon Westin, Amanda N Fader, Mark S Carey, Fiona Simpki |
Clinicopathological and molecular analyses of uterine carcinosarcomas using next-generation sequencing: A single-center experience. Indian journal of pathology & microbiology 2023 8 66 (3): 449-455. Ezgi Genc Erdogan, Tülin D Yalta, Nuray Can, Necdet Süt, Ebru Ta?tekin, Ufuk Usta, Fulya Öz Puyan, Fatma E Ustural? Keskin, Busem B Ku |
Molecular Results and Potential Biomarkers Identified from the Phase 3 MILO/ENGOT-ov11 Study of Binimetinib vs Physician Choice of Chemotherapy in Recurrent Low-Grade Serous Ovarian Cancer. Clinical cancer research : an official journal of the American Association for Cancer Research 2023 8 . Rachel N Grisham, Ignace Vergote, Susana Banerjee, Esther Drill, Elsa Kalbacher, Mansoor Raza Mirza, Ignacio Romero, Peter Vuylsteke, Robert L Coleman, Felix Hilpert, Amit M Oza, Anneke Westermann, Martin K Oehler, Sandro Pignata, Carol Aghajanian, Nicoletta Colombo, David Cibula, Kathleen N Moore, Josep M Del Campo, Regina Berger, Christian Marth, Jalid Sehouli, David M O'Malley, Cristina Churruca, Gunnar Kristensen, Andrew Clamp, John Farley, Gopakumar Iyer, Isabelle Ray-Coquard, Bradley J Mo |
Genotypic Findings in Noonan and Non-Noonan RASopathies and Patient Eligibility for Growth Hormone Treatment. Journal of clinical medicine 2023 8 12 (15): . Atilano Carcavilla, Ana Cambra, José L Santomé, Verónica Seidel, Jaime Cruz, Milagros Alonso, Jesús Pozo, Irene Valenzuela, Encarna Guillén-Navarro, Fernando Santos-Simarro, Isabel González-Casado, Amparo Rodríguez, Constancio Medrano, Juan Pedro López-Siguero, Begoña Ezquie |
Contribution of gene polymorphisms on 3p25 to salivary gland carcinoma, ameloblastoma, and odontogenic keratocyst in the Chinese Han population. Oral surgery, oral medicine, oral pathology and oral radiology 2023 7 136 (2): 220-230. Xueqing Zheng, Jiaojiao Jing, Minyan Yuan, Nianke Liu, Yaling So |
Cardiovascular Characteristics and Progressions of Hypertrophic Cardiomyopathy and Pulmonary Stenosis in RASopathy Syndrome in the Genomic Era. The Journal of pediatrics 2023 2 . Kim Susan Taejung, Lee Sang Yun, Kim Gi Beom, Bae Eun Jung, Ko Jung Min, Song Mi Kyou |
Characterization of the genomic alterations in poorly differentiated thyroid cancer. Scientific reports 2023 11 13 (1): 19154. Yeeun Lee, SeongRyeol Moon, Jae Yeon Seok, Joon-Hyop Lee, Seungyoon Nam, Yoo Seung Chu |
RAF1 mutation leading to hypertrophic cardiomyopathy in a Chinese family with a history of sudden cardiac death: A diagnostic insight into Noonan syndrome. Molecular genetics & genomic medicine 2023 10 e2290. Jingjing Zheng, Longyun Peng, Ruofei Cheng, Zhiyan Li, Jianjie Xie, Erwen Huang, Jianding Cheng, Qianhao Zh |
Genetic associations between gene polymorphisms on 3p25 and oral squamous cell carcinoma. Oral diseases 2023 1 . Yuan Minyan, Zheng Xueqing, Jing Jiaojiao, Li Yang, Liu Nianke, Song Yali |
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- Page last updated:Apr 22, 2024
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