Human Genome Epidemiology Literature Finder
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Records 1 - 14 (of 14 Records) |
| Query Trace: Noonan Syndrome and SHOC2[original query] |
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| Investigation of gene dosage imbalances in patients with Noonan syndrome using multiplex ligation-dependent probe amplification analysis. European journal of medical genetics 0 53 (3): 117-21. Nyström Anna-Maja, Ekvall Sara, Thuresson Ann-Charlotte, Denayer Ellen, Legius Eric, Kamali-Moghaddam Masood, Westermark Bengt, Annerén Göran, Bondeson Marie-Loui |
| Spectrum of mutations in Noonan syndrome and their correlation with phenotypes. The Journal of pediatrics 2011 Dec 159 (6): 1029-35. Lee Beom Hee, Kim Jae-Min, Jin Hye Young, Kim Gu-Hwan, Choi Jin-Ho, Yoo Han-Wo |
| 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 |
| Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis. Human molecular genetics 2014 Aug 23 (16): 4315-27. Flex Elisabetta, Jaiswal Mamta, Pantaleoni Francesca, Martinelli Simone, Strullu Marion, Fansa Eyad K, Caye Aurélie, De Luca Alessandro, Lepri Francesca, Dvorsky Radovan, Pannone Luca, Paolacci Stefano, Zhang Si-Cai, Fodale Valentina, Bocchinfuso Gianfranco, Rossi Cesare, Burkitt-Wright Emma M M, Farrotti Andrea, Stellacci Emilia, Cecchetti Serena, Ferese Rosangela, Bottero Lisabianca, Castro Silvana, Fenneteau Odile, Brethon Benoît, Sanchez Massimo, Roberts Amy E, Yntema Helger G, Van Der Burgt Ineke, Cianci Paola, Bondeson Marie-Louise, Cristina Digilio Maria, Zampino Giuseppe, Kerr Bronwyn, Aoki Yoko, Loh Mignon L, Palleschi Antonio, Di Schiavi Elia, Carè Alessandra, Selicorni Angelo, Dallapiccola Bruno, Cirstea Ion C, Stella Lorenzo, Zenker Martin, Gelb Bruce D, Cavé Hélène, Ahmadian Mohammad R, Tartaglia Mar |
| 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 |
| 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 |
| Mutation and Phenotypic Spectrum of Patients With RASopathies. Indian pediatrics 2020 8 . Lallar Meenakshi, Bijarnia-Mahay Sunita, Verma I C, Mandal Kaushik, Puri Ratna D |
| Mutation and Phenotypic Spectrum of Patients With RASopathies. Indian pediatrics 2021 1 58 (1): 30-33. Lallar Meenakshi, Bijarnia-Mahay Sunita, Verma I C, Mandal Kaushik, Puri Ratna D |
| 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 |
| 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 |
| Noonan syndrome and Noonan-like syndrome with loose anagen hair: rare phenotypes may emerge during follow-up. Translational pediatrics 2024 8 13 (7): 1161-1168. Ziqin Liu, Jianming Lai, Fuying So |
- Page last reviewed:Feb 1, 2024
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