Human Genome Epidemiology Literature Finder
Records 1 - 19 (of 19 Records) |
Query Trace: UBE3A[original query] |
---|
Transmission disequilibrium testing of the chromosome 15q11-q13 region in autism. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2008 Oct 147B (7): 1116-25. Kim Soo-Jeong, Brune Camille W, Kistner Emily O, Christian Susan L, Courchesne Eric H, Cox Nancy J, Cook Edwin |
Association study of the 15q11-q13 maternal expression domain in Japanese autistic patients. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2008 Oct 147B (7): 1008-12. Kato Chieko, Tochigi Mamoru, Ohashi Jun, Koishi Shinko, Kawakubo Yuki, Yamamoto Kenji, Matsumoto Hideo, Hashimoto Ohiko, Kim Soo-Yung, Watanabe Keiichiro, Kano Yukiko, Nanba Eiji, Kato Nobumasa, Sasaki Tsuka |
Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes. PLoS genetics 2009 Jun 5 (6): e1000536. Bucan Maja, Abrahams Brett S, Wang Kai, Glessner Joseph T, Herman Edward I, Sonnenblick Lisa I, Alvarez Retuerto Ana I, Imielinski Marcin, Hadley Dexter, Bradfield Jonathan P, Kim Cecilia, Gidaya Nicole B, Lindquist Ingrid, Hutman Ted, Sigman Marian, Kustanovich Vlad, Lajonchere Clara M, Singleton Andrew, Kim Junhyong, Wassink Thomas H, McMahon William M, Owley Thomas, Sweeney John A, Coon Hilary, Nurnberger John I, Li Mingyao, Cantor Rita M, Minshew Nancy J, Sutcliffe James S, Cook Edwin H, Dawson Geraldine, Buxbaum Joseph D, Grant Struan F A, Schellenberg Gerard D, Geschwind Daniel H, Hakonarson Hak |
Role of UBE3A and ATP10A genes in autism susceptibility region 15q11-q13 in an Italian population: a positive replication for UBE3A. Psychiatry research 2011 Jan 185 (1-2): 33-8. Guffanti Guia, Strik Lievers Luisa, Bonati Maria Teresa, Marchi Margherita, Geronazzo Lupo, Nardocci Nardo, Estienne Margherita, Larizza Lidia, Macciardi Fabio, Russo Silv |
Diagnostic yield of targeted massively parallel sequencing in children with epileptic encephalopathy. Seizure 2018 6 59 132-140. Kothur Kavitha, Holman Katherine, Farnsworth Elizabeth, Ho Gladys, Lorentzos Michelle, Troedson Christopher, Gupta Sachin, Webster Richard, Procopis Peter G, Menezes Manoj P, Antony Jayne, Ardern-Holmes Simone, Dale Russell C, Christodoulou John, Gill Deepak, Bennetts Bru |
Targeted next generation sequencing in 112 Chinese patients with intellectual disability/developmental delay: novel mutations and candidate gene. BMC medical genetics 2019 5 20 (1): 80. Yan Huifang, Shi Zhen, Wu Ye, Xiao Jiangxi, Gu Qiang, Yang Yanling, Li Ming, Gao Kai, Chen Yinyin, Yang Xiaoping, Ji Haoran, Cao Binbin, Duan Ruoyu, Jiang Yuwu, Wang Jingm |
Genetic variation of UBE3A is associated with schizotypy in a population of typical individuals. Psychiatry research 2019 Mar 275 94-99. Salminen Iiro, Read Silven, Hurd Pete, Crespi Berna |
[Clinical and genetic analysis of a patient with Angelman syndrome due to a frameshift variant of UBE3A gene]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020 9 37 (10): 1120-1123. Gao Zaifen, Lyu Yuqiang, Zhang Kaihui, Gao Min, Ma Jian, Wang Dong, Gai Zhongtao, Liu |
A Wide Spectrum of Genetic Disorders Causing Severe Childhood Epilepsy in Taiwan: A Case Series of Ultrarare Genetic Cause and Novel Mutation Analysis in a Pilot Study. Journal of personalized medicine 2020 12 10 (4): . Hong Syuan-Yu, Yang Jiann-Jou, Li Shuan-Yow, Lee Inn-C |
Mutation screening of the UBE3A gene in Chinese Han population with autism. BMC psychiatry 2020 Dec 20 (1): 589. Zhao Xue, Zhang Ran, Yu Shunyi |
[Analysis of clinical phenotype and genetic variants in a Chinese pedigree affected with Angelman syndrome]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2021 8 38 (8): 723-726. Jiang Wei, Cao Li, Yu Jing, Na Xiaoxue, Yang Jiy |
Delta power robustly predicts cognitive function in Angelman syndrome. Annals of clinical and translational neurology 2021 5 8 (7): 1433-1445. Ostrowski Lauren M, Spencer Elizabeth R, Bird Lynne M, Thibert Ronald, Komorowski Robert W, Kramer Mark A, Chu Catherine |
Expanding the clinico-molecular spectrum of Angelman syndrome phenotype with the GABRG3 gene: Evidence from methylation and sequencing studies. Annals of human genetics 2021 11 86 (2): 71-79. Iyer Gayatri R, Utage Prashant, Devi Radha Rama, Vattam Kiran Kumar, Hasan Qurratula |
An Analysis of Phenotype and Genotype in a Large Cohort of Chinese Children with Angelman Syndrome. Genes 2022 8 13 (8): . Du Xiaonan, Wang Ji, Li Shuang, Ma Yu, Wang Tianqi, Wu Bingbing, Zhou Yuanfeng, Yu Lifei, Wang |
ADHD-associated PARK2 copy number variants: A pilot study on gene expression and effects of supplementary deprivation in patient-derived cell lines. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2022 8 189 (7-8): 257-270. Radtke Franziska, Palladino Viola Stella, McNeill Rhiannon V, Chiocchetti Andreas G, Haslinger Denise, Leyh Matthias, Gersic Danijel, Frank Markus, Grünewald Lena, Klebe Stephan, Brüstle Oliver, Günther Katharina, Edenhofer Frank, Kranz Thorsten M, Reif Andreas, Kittel-Schneider Sar |
Neurovisual profile in children affected by Angelman syndrome. Brain & development 2022 11 45 (2): 117-125. Galli Jessica, Loi Erika, Strobio Caterina, Micheletti Serena, Martelli Paola, Merabet Lotfi B, Pasini Nadia, Semeraro Francesco, Fazzi Elisa, |
Genetic diagnosis of fetal microcephaly at a single tertiary center in China. Frontiers in genetics 2023 5 14 1112153. You Wang, Fang Fu, Tingying Lei, Li Zhen, Qiong Deng, Hang Zhou, Chunling Ma, Ken Cheng, Ruibin Huang, Ru Li, Qiuxia Yu, Lushan Li, Jin Han, Xin Yang, Dongzhi Li, Can Li |
Bone health in children with Angelman syndrome at the ENCORE Expertise Center. European journal of pediatrics 2023 10 . Karen G C B Bindels-de Heus, Doesjka A Hagenaar, Sabine E Mous, Ilonka Dekker, Daniëlle C M van der Kaay, Gerthe F Kerkhof, Ype Elgersma, Henriette A Moll, Marie-Claire Y de W |
Expanding deep phenotypic spectrum associated with atypical pathogenic structural variations overlapping 15q11-q13 imprinting region. Brain and behavior 2024 4 14 (4): e3437. Rabeya Akter Mim, Anjana Soorajkumar, Noor Kosaji, Muhammad Mizanur Rahman, Shaoli Sarker, Noushad Karuvantevida, Tamannyat Binte Eshaque, Md Atikur Rahaman, Amirul Islam, Mohammod Shah Jahan Chowdhury, Nusrat Shams, K M Furkan Uddin, Hosneara Akter, Mohammed Udd |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 22, 2024
- Content source: