Human Genome Epidemiology Literature Finder
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Records 1 - 15 (of 15 Records) |
| Query Trace: Disease and SOS1[original query] |
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| Candidate gene association study in type 2 diabetes indicates a role for genes involved in beta-cell function as well as insulin action. PLoS biology 2003 Oct 1 (1): E20. Barroso Inês, Luan Jian'an, Middelberg Rita P S, Harding Anne-Helen, Franks Paul W, Jakes Rupert W, Clayton D, Schafer Alan J, O'Rahilly Stephen, Wareham Nicholas |
| Genotype differences in cognitive functioning in Noonan syndrome. Genes, brain, and behavior 2009 Apr 8 (3): 275-82. Pierpont E I, Pierpont M E, Mendelsohn N J, Roberts A E, Tworog-Dube E, Seidenberg M |
| PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome. Journal of human genetics 2008 53 (11-12): 999-1006. Ko Jung Min, Kim Jae-Min, Kim Gu-Hwan, Yoo Han-Wo |
| Effects of germline mutations in the Ras/MAPK signaling pathway on adaptive behavior: cardiofaciocutaneous syndrome and Noonan syndrome. American journal of medical genetics. Part A 2010 Mar 152A (3): 591-600. Pierpont Elizabeth I, Pierpont Mary Ella, Mendelsohn Nancy J, Roberts Amy E, Tworog-Dube Erica, Rauen Katherine A, Seidenberg Mark |
| Prevalence of sequence variants in the RAS-mitogen activated protein kinase signaling pathway in pre-adolescent children with hypertrophic cardiomyopathy. Circulation. Cardiovascular genetics 2012 Jun 5 (3): 317-26. Kaski Juan Pablo, Syrris Petros, Shaw Adam, Alapi Krisztina Zuborne, Cordeddu Viviana, Esteban Maria Teresa Tome, Jenkins Sharon, Ashworth Michael, Hammond Peter, Tartaglia Marco, McKenna William J, Elliott Perry |
| Alterations in RAS-MAPK genes in 200 Spanish patients with Noonan and other neuro-cardio-facio-cutaneous syndromes. Genotype and cardiopathy. Revista española de cardiología (English ed.) 2012 May 65 (5): 447-55. Ezquieta Begoña, Santomé José L, Carcavilla Atilano, Guillén-Navarro Encarna, Pérez-Aytés Antonio, Sánchez del Pozo Jaime, García-Miñaur Sixto, Castillo Emilia, Alonso Milagros, Vendrell Teresa, Santana Alfredo, Maroto Enrique, Galbis Lilia |
| Novel mutations and their genotype-phenotype correlations in patients with Noonan syndrome, using next-generation sequencing. Advances in medical sciences 2017 9 63 (1): 87-93. Tafazoli Alireza, Eshraghi Peyman, Pantaleoni Francesca, Vakili Rahim, Moghaddassian Morteza, Ghahraman Martha, Muto Valentina, Paolacci Stefano, Golyan Fatemeh Fardi, Abbaszadegan Mohammad Re |
| SOS1 gene polymorphisms are associated with gestational diabetes mellitus in a Chinese population: Results from a nested case-control study in Taiyuan, China. Diabetes & vascular disease research 2018 03 15 (2): 158-161. Chen Qiong, Yang Hailan, Feng Yongliang, Zhang Ping, Wu Weiwei, Li Shuzhen, Thompson Brian, Wang Xin, Peng Tingting, Wang Fang, Xie Bingjie, Guo Pengge, Li Mei, Wang Ying, Zhao Nan, Wang Suping, Zhang Yaw |
| NGS testing for cardiomyopathy: Utility of adding RASopathy-associated genes. Human mutation 2018 4 39 (7): 954-958. Ceyhan-Birsoy Ozge, Miatkowski Maya M, Hynes Elizabeth, Funke Birgit H, Mason-Suares Heath |
| 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 |
| Minimal inflammatory foci of unknown etiology may be a tentative sign of early stage inherited cardiomyopathy. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 2019 4 32 (9): 1281-1290. Hata Yukiko, Hirono Keiichi, Yamaguchi Yoshiaki, Ichida Fukiko, Oku Yuko, Nishida Nao |
| 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 |
| Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications. European journal of human genetics : EJHG 2020 8 29 (1): 51-60. Lissewski Christina, Chune Valérie, Pantaleoni Francesca, De Luca Alessandro, Capri Yline, Brinkmann Julia, Lepri Francesca, Daniele Paola, Leenders Erika, Mazzanti Laura, Scarano Emanuela, Radio Francesca Clementina, Kutsche Kerstin, Kuechler Alma, Gérard Marion, Ranguin Kara, Legendre Marine, Vial Yoann, van der Burgt Ineke, Rinne Tuula, Andreucci Elena, Mastromoro Gioia, Digilio Maria Cristina, Cave Hélène, Tartaglia Marco, Zenker Mart |
| Double heterozygous pathogenic mutations in KIF3C and ZNF513 cause hereditary gingival fibromatosis. International journal of oral science 2023 9 15 (1): 46. Jianfan Chen, Xueqing Xu, Song Chen, Ting Lu, Yingchun Zheng, Zhongzhi Gan, Zongrui Shen, Shunfei Ma, Duocai Wang, Leyi Su, Fei He, Xuan Shang, Huiyong Xu, Dong Chen, Leitao Zhang, Fu Xio |
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