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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 |
| 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 |
| 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 |
| High Prevalence of DICER1 Mutations and Low Frequency of Gene Fusions in Pediatric Follicular-Patterned Tumors of the Thyroid. Endocrine pathology 2021 7 32 (3): 336-346. Bae Ja-Seong, Jung Seung-Hyun, Hirokawa Mitsuyoshi, Bychkov Andrey, Miyauchi Akira, Lee Sohee, Chung Yeun-Jun, Jung Chan Kw |
| 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 |
| Noonan Syndrome in Thai Children. Indian pediatrics 2020 10 57 (10): 967-968. Boonchooduang Nonglak, Louthrenoo Orawan, Tanpaiboon Prano |
| Orodental, Facial and Clinical Features of Mutation-Positive Noonan Syndrome: A Monocentric Study. The Journal of clinical pediatric dentistry 2020 11 44 (4): 262-267. Gürsoy Semra, Hazan Filiz, Kaderli Bülent, Me?e Timur, Tükün Ajl |
| 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 |
| 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 |
| Genotype-phenotype correlation analysis in Japanese patients with Noonan syndrome. Endocrine journal 2019 Jul . Shoji Yasuko, Ida Shinobu, Niihori Tetsuya, Aoki Yoko, Okamoto Nobuhiko, Etani Yuri, Kawai Masano |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| A genome-wide analysis of colorectal cancer in a child with Noonan syndrome. Pediatric blood & cancer 2018 7 65 (11): e27362. Prasad Rahul M, Mody Rajen J, Myers George, Mullins Melisa, Naji Zaher, Geiger James |
| 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 |
| 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 |
| Validating genetic markers of response to recombinant human growth hormone in children with growth hormone deficiency and Turner syndrome: the PREDICT validation study. European journal of endocrinology 2016 Dec 175 (6): 633-643. Stevens Adam, Murray Philip, Wojcik Jerome, Raelson John, Koledova Ekaterina, Chatelain Pierre, Clayton Peter, |
| Cardiac Manifestations and Associations with Gene Mutations in Patients Diagnosed with RASopathies. Pediatric cardiology 2016 Aug . Jhang Won Kyoung, Choi Jin-Ho, Lee Beom Hee, Kim Gu-Hwan, Yoo Han-Wo |
| Growth patterns of patients with Noonan syndrome: correlation with age and genotype. European journal of endocrinology / European Federation of Endocrine Societies 2016 Feb . Cessans Catie, Ehlinger Virginie, Arnaud Catherine, Yart Armelle, Capri Yline, Barat Pascal, Cammas Benoit, Lacombe Didier, Coutant Regis, David Albert, Baron Sabine, Weill Jacques, Leheup Bruno, Nicolino Marc, Salles Jean-Pierre, Verloes Alain, Tauber Maithe, Cavé Hélène, Edouard Thom |
| 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 |
| 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 |
| 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 |
| The language phenotype of children and adolescents with Noonan syndrome. Journal of speech, language, and hearing research : JSLHR 2010 Aug 53 (4): 917-32. Pierpont Elizabeth I, Ellis Weismer Susan, Roberts Amy E, Tworog-Dube Erica, Pierpont Mary Ella, Mendelsohn Nancy J, Seidenberg Mark |
| PTPN11 and KRAS gene analysis in patients with Noonan and Noonan-like syndromes. Genetic testing and molecular biomarkers 2010 Jun 14 (3): 425-32. Brasil Amanda Salem, Pereira Alexandre C, Wanderley Luciana Turolla, Kim Chong Ae, Malaquias Alexsandra C, Jorge Alexander A L, Krieger José Eduardo, Bertola Débora Rom |
| 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 |
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- Page last updated:Mar 30, 2023
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