Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 75 Records) |
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| 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 |
| Comparison of effectiveness of growth hormone therapy according to disease-causing genes in children with Noonan syndrome. Korean journal of pediatrics 2018 12 62 (7): 274-280. Jo Kyo Jin, Kim Yoo Mi, Yoon Ju Young, Lee Yeoun Joo, Han Young Mi, Yoo Han-Wook, Kim Hyang-Sook, Cheon Chong K |
| 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 |
| Molecular and phenotypic spectrum of Noonan syndrome in Chinese patients. Clinical genetics 2019 6 96 (4): 290-299. Li Xin, Yao Ruen, Tan Xin, Li Niu, Ding Yu, Li Juan, Chang Guoying, Chen Yao, Ma Lizhuang, Wang Jian, Fu Lijun, Wang Xium |
| Noonan Syndrome in South Africa: Clinical and Molecular Profiles. Frontiers in genetics 2019 5 10 333. Tekendo-Ngongang Cedrik, Agenbag Gloudi, Bope Christian Domilongo, Esterhuizen Alina Izabela, Wonkam Ambroi |
| Molecular Profiling of Tumor Tissue and Plasma Cell-Free DNA from Patients with Non-Langerhans Cell Histiocytosis. Molecular cancer therapeutics 2019 4 18 (6): 1149-1157. Janku Filip, Diamond Eli L, Goodman Aaron M, Raghavan Vaijayanthi Kandadai, Barnes Tamara G, Kato Shumei, Abdel-Wahab Omar, Durham Benjamin H, Meric-Bernstam Funda, Kurzrock Razel |
| Clinical and mutation profile of pediatric patients with RASopathy-associated hypertrophic cardiomyopathy: results from a Chinese cohort. Orphanet journal of rare diseases 2019 2 14 (1): 29. Chen Hao, Li Xin, Liu Xiaoliang, Wang Jian, Zhang Zhen, Wu Jinjin, Huang Meirong, Guo Ying, Li Fen, Wang Xiumin, Fu Lij |
| 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 |
| Polymorphisms in RAS/RAF/MEK/ERK Pathway Are Associated with Gastric Cancer. Genes 2019 1 10 (1): . Gonzalez-Hormazabal Patricio, Musleh Maher, Bustamante Marco, Stambuk Juan, Pisano Raul, Valladares Hector, Lanzarini Enrique, Chiong Hector, Rojas Jorge, Suazo Jose, Castro V Gonzalo, Jara Lilian, Berger Zolt |
| Mutational profile of papillary thyroid microcarcinoma with extensive lymph node metastasis. Endocrine 2019 Jan . Jeon Min Ji, Chun Sung Min, Lee Ji-Young, Choi Kyeong Woon, Kim Deokhoon, Kim Tae Yong, Jang Se Jin, Kim Won Bae, Shong Young Kee, Song Dong Eun, Kim Won |
| 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 |
| 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 |
| 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 |
- Page last reviewed:Feb 1, 2023
- Page last updated:Jun 02, 2023
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