Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 57 Records) |
Query Trace: SOS1[original query] |
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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 |
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 |
Clinical utility of exome sequencing in individuals with large homozygous regions detected by chromosomal microarray analysis. BMC medical genetics 2018 3 19 (1): 46. Prasad Aparna, Sdano Matthew A, Vanzo Rena J, Mowery-Rushton Patricia A, Serrano Moises A, Hensel Charles H, Wassman E Robe |
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 |
Runs of homozygosity associate with decreased risks of lung cancer in never-smoking East Asian females. Journal of Cancer 2018 9 (21): 3858-3866. Chen Yi-Xiao, Guo Yan, Dong Shan-Shan, Chen Xiao-Feng, Chen Jia-Bin, Zhang Yu-Jie, Yao Shi, Thynn Hlaing Nwe, Zhi Liqiang, Yang Tie-L |
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 |
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 |
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 |
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 |
Identification of Gene Mutations in Primary Pediatric Cardiomyopathy by Whole Exome Sequencing. Pediatric cardiology 2019 11 41 (1): 165-174. Rojnueangnit Kitiwan, Sirichongkolthong Boonchu, Wongwandee Ratthapon, Khetkham Thanitchet, Noojarern Saisuda, Khongkraparn Arthaporn, Wattanasirichaigoon Duangrurd |
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 |
Genetic Examination for Fetuses with Increased Fetal Nuchal Translucency by Genomic Technology. Cytogenetic and genome research 2020 2 160 (2): 57-62. Xue Shuya, Yan Huanchen, Chen Jingsi, Li Nan, Wang Jiayan, Liu Yu, Zhang Huimin, Li Shaoying, Zhang Wei, Chen Dunjin, Chen M |
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 |
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 |
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 |
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 |
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 |
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 |
Contribution of Somatic Ras/Raf/Mitogen-Activated Protein Kinase Variants in the Hippocampus in Drug-Resistant Mesial Temporal Lobe Epilepsy. JAMA neurology 2023 5 . Sattar Khoshkhoo, Yilan Wang, Yasmine Chahine, E Zeynep Erson-Omay, Stephanie M Robert, Emre Kiziltug, Eyiyemisi C Damisah, Carol Nelson-Williams, Guangya Zhu, Wenna Kong, August Yue Huang, Edward Stronge, H Westley Phillips, Brian H Chhouk, Sara Bizzotto, Ming Hui Chen, Thiuni N Adikari, Zimeng Ye, Tom Witkowski, Dulcie Lai, Nadine Lee, Julie Lokan, Ingrid E Scheffer, Samuel F Berkovic, Shozeb Haider, Michael S Hildebrand, Edward Yang, Murat Gunel, Richard P Lifton, R Mark Richardson, Ingmar Blümcke, Sanda Alexandrescu, Anita Huttner, Erin L Heinzen, Jidong Zhu, Annapurna Poduri, Nihal DeLanerolle, Dennis D Spencer, Eunjung Alice Lee, Christopher A Walsh, Kristopher T Kah |
Identification and Validation of FGF-Related Prognostic Signatures in Prostate Cancer. Disease markers 2023 3 2023 7342882. Ye Yongkang, Mo Rujun, Zheng Ruinian, Zou Jun, Liu Shaoqian, Mi Qiwu, Zhong Wei |
Utility of whole-exome sequencing for patients with multiple congenital anomalies with or without intellectual disability/developmental delay in East Asia population. Molecular genetics & genomic medicine 2023 2 e2160. Hsu Rai-Hseng, Lee Chen-Hao, Chien Yin-Hsiu, Lin Shuan-Pei, Hung Miao-Zi, Chen Nai-Chi, Lin Yi-Lin, Hwu Wuh-Liang, Lee Ni-Chu |
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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- Page last updated:Apr 29, 2024
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