Human Genome Epidemiology Literature Finder
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Records 1 - 12 (of 12 Records) |
| Query Trace: Noonan Syndrome and RIT1[original query] |
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| Next-generation sequencing identifies rare variants associated with Noonan syndrome. Proceedings of the National Academy of Sciences of the United States of America 2014 Aug 111 (31): 11473-8. Chen Peng-Chieh, Yin Jiani, Yu Hui-Wen, Yuan Tao, Fernandez Minerva, Yung Christina K, Trinh Quang M, Peltekova Vanya D, Reid Jeffrey G, Tworog-Dube Erica, Morgan Margaret B, Muzny Donna M, Stein Lincoln, McPherson John D, Roberts Amy E, Gibbs Richard A, Neel Benjamin G, Kucherlapati Ra |
| Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations. Human genetics 2015 Dec . Yaoita Masako, Niihori Tetsuya, Mizuno Seiji, Okamoto Nobuhiko, Hayashi Shion, Watanabe Atsushi, Yokozawa Masato, Suzumura Hiroshi, Nakahara Akihiko, Nakano Yusuke, Hokosaki Tatsunori, Ohmori Ayumi, Sawada Hirofumi, Migita Ohsuke, Mima Aya, Lapunzina Pablo, Santos-Simarro Fernando, García-Miñaúr Sixto, Ogata Tsutomu, Kawame Hiroshi, Kurosawa Kenji, Ohashi Hirofumi, Inoue Shin-Ichi, Matsubara Yoichi, Kure Shigeo, Aoki Yo |
| New Mutations Associated with Rasopathies in a Central European Population and Genotype-Phenotype Correlations. Annals of human genetics 2015 Nov . ?izmárová M, Hlinková K, Bertok S, Kotnik P, Duba H C, Bertalan R, Polo?ková K, Koš?álová ?, Pribilincová Z, Hlavatá A, Kovács L, Ilen?íková |
| 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 |
| 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 |
| 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 |
| The spectrum of genetic variants and phenotypic features of Southeast Asian patients with Noonan syndrome. Molecular genetics & genomic medicine 2019 2 7 (4): e00581. Koh Ai-Ling, Tan Ee-Shien, Brett Maggie S, Lai Angeline H M, Jamuar Saumya Shekhar, Ng Ivy, Tan Ene-Ch |
| 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 |
| 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 |
| 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 |
| 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 |
- Page last reviewed:Feb 1, 2023
- Page last updated:Sep 29, 2023
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