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Query Trace: Noonan Syndrome and PTPN11[original query] |
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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 |
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 |
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 |
Cardiac manifestations and gene mutations of patients with RASopathies in Taiwan. American journal of medical genetics. Part A 2019 12 182 (2): 357-364. Lee Chung-Lin, Tan Louis Tan Hock-Cheong, Lin Hsiang-Yu, Hwu Wuh-Liang, Lee Ni-Chung, Chien Yin-Hsiu, Chuang Chih-Kuang, Wu Mei-Hwan, Wang Jou-Kou, Chu Shao-Yin, Lin Ju-Li, Lo Fu-Sung, Su Pen-Hua, Hsu Chia-Chi, Ko Yu-Yuan, Chen Ming-Ren, Chiu Hui-Ching, Lin Shuan-P |
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 |
The Clinical impact of PTPN11 mutations in adults with acute myeloid leukemia. Leukemia 2020 6 35 (3): 691-700. Alfayez Mansour, Issa Ghayas C, Patel Keyur P, Wang Feng, Wang Xuemei, Short Nicholas J, Cortes Jorge E, Kadia Tapan, Ravandi Farhad, Pierce Sherry, Assi Rita, Garcia-Manero Guillermo, DiNardo Courtney D, Daver Naval, Pemmaraju Naveen, Kantarjian Hagop, Borthakur Gaut |
Contribution of gene mutations to Silver-Russell syndrome phenotype: multigene sequencing analysis in 92 etiology-unknown patients. Clinical epigenetics 2020 6 12 (1): 86. Inoue Takanobu, Nakamura Akie, Iwahashi-Odano Megumi, Tanase-Nakao Kanako, Matsubara Keiko, Nishioka Junko, Maruo Yoshihiro, Hasegawa Yukihiro, Suzumura Hiroshi, Sato Seiji, Kobayashi Yoshiyuki, Murakami Nobuyuki, Nakabayashi Kazuhiko, Yamazawa Kazuki, Fuke Tomoko, Narumi Satoshi, Oka Akira, Ogata Tsutomu, Fukami Maki, Kagami Masa |
Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations. BMC medical genetics 2020 3 21 (1): 50. Athota Jeevana Praharsha, Bhat Meenakshi, Nampoothiri Sheela, Gowrishankar Kalpana, Narayanachar Sanjeeva Ghanti, Puttamallesh Vinuth, Farooque Mohammed Oomer, Shetty Swat |
Noonan Syndrome: Common Molecular Alterations and the Consequences. Journal of the Association of Genetic Technologists 2020 3 46 (1): 21-23. Rankins Casey, Bradeen Heather, Devitt Katherine, Gardner Juli-An |
Noonan syndrome patients beyond the obvious phenotype: A potential unfavorable metabolic profile. American journal of medical genetics. Part A 2020 Dec . Noronha Renata M, Villares Sandra M F, Torres Natalia, Quedas Elisangela P S, Homma Thais Kataoka, Albuquerque Edoarda V A, Moraes Michelle B, Funari Mariana F A, Bertola Debora R, Jorge Alexander A L, Malaquias Alexsandra |
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 |
Noonan Syndrome in Thai Children. Indian pediatrics 2020 10 57 (10): 967-968. Boonchooduang Nonglak, Louthrenoo Orawan, Tanpaiboon Prano |
Clinical variability of neurofibromatosis 1: A modifying role of cooccurring PTPN11 variants and atypical brain MRI findings. Clinical genetics 2021 8 100 (5): 563-572. D'Amico Alessandra, Rosano Carmen, Pannone Luca, Pinna Valentina, Assunto Antonia, Motta Marialetizia, Ugga Lorenzo, Daniele Paola, Mandile Roberta, Mariniello Lucio, Siano Maria Anna, Santoro Claudia, Piluso Giulio, Martinelli Simone, Strisciuglio Pietro, De Luca Alessandro, Tartaglia Marco, Melis Danie |
Juvenile xanthogranuloma in Noonan syndrome. American journal of medical genetics. Part A 2021 5 185 (10): 3048-3052. Ali Marwan M, Gilliam Amy E, Ruben Beth S, Tidyman William E, Rauen Katherine |
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 |
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 |
Noonan syndrome associated with hypoplastic left heart syndrome. Cardiology in the young 2022 8 1-3. Lawrence Kendall M, Burstein Danielle S, Ahrens-Nicklas Rebecca, Gaynor J William, Nuri Muhammad |
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 |
Outcomes in growth hormone-treated Noonan syndrome children: impact of PTPN11 mutation status. Endocrine connections 2022 3 11 (4): . Jorge Alexander A L, Edouard Thomas, Maghnie Mohamad, Pietropoli Alberto, Kelepouris Nicky, Romano Alicia, Zenker Martin, Horikawa Rei |
[The clinical phenotype and gene analysis of syndromic deafness with PTPN11 gene mutation]. Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery 2022 3 57 (3): 317-323. Gao Y, Li Z C, Ma X L, Gao Y Q, Xiao Y, Dai X, Ma |
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 |
Growth in Children With Noonan Syndrome and Effects of Growth Hormone Treatment on Adult Height. Frontiers in endocrinology 2022 1 12 761171. Libraro Annachiara, D'Ascanio Vito, Cappa Marco, Chiarito Mariangela, Digilio Maria Cristina, Einaudi Silvia, Grandone Anna, Maghnie Mohamad, Mazzanti Laura, Mussa Alessandro, Patti Giuseppa, Scarano Emanuela, Spinuzza Antonietta, Vannelli Silvia, Wasniewska Malgorzata Gabriela, Ferrero Giovanni Battista, Faienza Maria Felic |
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 |
Lessons From a Genotype-Phenotype Study About the Clinical Spectrum of Hypertrophic Cardiomyopathy Associated With Noonan Syndrome With Multiple Lentigines and PTPN11-Mutations. Circulation. Genomic and precision medicine 2023 6 e004206. Ingegerd Östman-Smi |
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 |
Noonan Syndrome Growth Charts and Genotypes: 15-year Longitudinal Single-centre Study. Hormone research in paediatrics 2024 7 . Marco Cappa, Francesco d'Aniello, Maria Cristina Digilio, Maria Giulia Gagliardi, Chiara Minotti, Pier Paolo Leoncini, Alberto Pietropoli, Antonio Nicolucci, Giusi Graziano, Graziamaria Uberti |
Genetic backgrounds and genotype-phenotype relationships in anthropometric parameters of 116 Japanese individuals with Noonan syndrome. Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology 2024 4 33 (2): 50-58. Yasuko Shoji, Ayaha Hata, Takatoshi Maeyama, Tamaki Wada, Yuiko Hasegawa, Eriko Nishi, Shinobu Ida, Yuri Etani, Tetsuya Niihori, Yoko Aoki, Nobuhiko Okamoto, Masanobu Kaw |
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