Human Genome Epidemiology Literature Finder
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Query Trace: Abnormalities and TRIO[original query] |
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Genetic and expression analyses reveal elevated expression of syntaxin 1A ( STX1A) in high functioning autism. The international journal of neuropsychopharmacology / official scientific journal of the Collegium Internationale Neuropsychopharmacologicum (CINP) 2008 Dec 11 (8): 1073-84. Nakamura Kazuhiko, Anitha Ayyappan, Yamada Kazuo, Tsujii Masatsugu, Iwayama Yoshimi, Hattori Eiji, Toyota Tomoko, Suda Shiro, Takei Noriyoshi, Iwata Yasuhide, Suzuki Katsuaki, Matsuzaki Hideo, Kawai Masayoshi, Sekine Yoshimoto, Tsuchiya Kenji J, Sugihara Gen-Ichi, Ouchi Yasuomi, Sugiyama Toshiro, Yoshikawa Takeo, Mori Nor |
Genetic analyses of roundabout (ROBO) axon guidance receptors 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): 1019-27. Anitha A, Nakamura Kazuhiko, Yamada Kazuo, Suda Shiro, Thanseem Ismail, Tsujii Masatsugu, Iwayama Yoshimi, Hattori Eiji, Toyota Tomoko, Miyachi Taishi, Iwata Yasuhide, Suzuki Katsuaki, Matsuzaki Hideo, Kawai Masayoshi, Sekine Yoshimoto, Tsuchiya Kenji, Sugihara Gen-Ichi, Ouchi Yasuomi, Sugiyama Toshiro, Koizumi Keita, Higashida Haruhiro, Takei Nori, Yoshikawa Takeo, Mori Nor |
Replication study of Japanese cohorts supports the role of STX1A in autism susceptibility. Progress in neuro-psychopharmacology & biological psychiatry 2011 Mar 35 (2): 454-8. Nakamura Kazuhiko, Iwata Yasuhide, Anitha Ayyappan, Miyachi Taishi, Toyota Tomoko, Yamada Satoru, Tsujii Masatsugu, Tsuchiya Kenji J, Iwayama Yoshimi, Yamada Kazuo, Hattori Eiji, Matsuzaki Hideo, Matsumoto Kaori, Suzuki Katsuaki, Suda Shiro, Takebayashi Kiyokazu, Takei Nori, Ichikawa Hironobu, Sugiyama Toshiro, Yoshikawa Takeo, Mori Nor |
Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome. Human genetics 2015 Jun 134 (6): 649-58. Hino-Fukuyo Naomi, Kikuchi Atsuo, Arai-Ichinoi Natsuko, Niihori Tetsuya, Sato Ryo, Suzuki Tasuku, Kudo Hiroki, Sato Yuko, Nakayama Tojo, Kakisaka Yosuke, Kubota Yuki, Kobayashi Tomoko, Funayama Ryo, Nakayama Keiko, Uematsu Mitsugu, Aoki Yoko, Haginoya Kazuhiro, Kure Shig |
Mosaic structural variation in children with developmental disorders. Human molecular genetics 2015 May 24 (10): 2733-45. King Daniel A, Jones Wendy D, Crow Yanick J, Dominiczak Anna F, Foster Nicola A, Gaunt Tom R, Harris Jade, Hellens Stephen W, Homfray Tessa, Innes Josie, Jones Elizabeth A, Joss Shelagh, Kulkarni Abhijit, Mansour Sahar, Morris Andrew D, Parker Michael J, Porteous David J, Shihab Hashem A, Smith Blair H, Tatton-Brown Katrina, Tolmie John L, Trzaskowski Maciej, Vasudevan Pradeep C, Wakeling Emma, Wright Michael, Plomin Robert, Timpson Nicholas J, Hurles Matthew E, |
Diagnostic Yield of Intellectual Disability Gene Panels. Pediatric neurology 2018 12 92 32-36. Pekeles Heather, Accogli Andrea, Boudrahem-Addour Nassima, Russell Laura, Parente Fabienne, Srour Myri |
CSGALNACT1-congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age. Human mutation 2019 11 41 (3): 655-667. Mizumoto Shuji, Janecke Andreas R, Sadeghpour Azita, Povysil Gundula, McDonald Marie T, Unger Sheila, Greber-Platzer Susanne, Deak Kristen L, Katsanis Nicholas, Superti-Furga Andrea, Sugahara Kazuyuki, Davis Erica E, Yamada Shuhei, Vodopiutz Jul |
A prospective study on rapid exome sequencing as a diagnostic test for multiple congenital anomalies on fetal ultrasound. Prenatal diagnosis 2020 7 40 (10): 1300-1309. Corsten-Janssen Nicole, Bouman Katelijne, Diphoorn Janouk C D, Scheper Arjen J, Kinds Rianne, El Mecky Julia, Breet Hanna, Verheij Joke B G M, Suijkerbuijk Ron, Duin Leonie K, Manten Gwendolyn T R, van Langen Irene M, Sijmons Rolf H, Sikkema-Raddatz Birgit, Westers Helga, van Diemen Cleo |
The genomic profile of parathyroid carcinoma based on whole-genome sequencing. International journal of cancer 2020 6 147 (9): 2446-2457. Hu Ya, Zhang Xiang, Wang Ou, Bi Yalan, Xing Xiaoping, Cui Ming, Wang Mengyi, Tao Wei, Liao Quan, Zhao Yup |
Clinical and Molecular Diagnosis of Joubert Syndrome and Related Disorders. Pediatric neurology 2020 3 106 43-49. Radha Rama Devi Akella, Naushad Shaik Mohammad, Lingappa Loke |
RYR2 Mutations Are Associated With Benign Epilepsy of Childhood With Centrotemporal Spikes With or Without Arrhythmia. Frontiers in neuroscience 2021 4 15 629610. Ma Mei-Gang, Liu Xiao-Rong, Wu Yuan, Wang Jie, Li Bing-Mei, Shi Yi-Wu, Su Tao, Li Bin, Liu De-Tian, Yi Yong-Hong, Liao Wei-Pi |
UNC13B variants associated with partial epilepsy with favourable outcome. Brain : a journal of neurology 2021 4 144 (10): 3050-3060. Wang Jie, Qiao Jing-Da, Liu Xiao-Rong, Liu De-Tian, Chen Yan-Hui, Wu Yi, Sun Yan, Yu Jing, Ren Rong-Na, Mei Zhen, Liu Yu-Xi, Shi Yi-Wu, Jiang Mi, Lin Si-Mei, He Na, Li Bin, Bian Wen-Jun, Li Bing-Mei, Yi Yong-Hong, Su Tao, Liu Han-Kui, Gu Wei-Yue, Liao Wei-Pi |
Biallelic truncating variants in MAPKAPK5 cause a new developmental disorder involving neurological, cardiac, and facial anomalies combined with synpolydactyly. Genetics in medicine : official journal of the American College of Medical Genetics 2021 1 23 (4): 679-688. Horn Denise, Fernández-Núñez Elisa, Gomez-Carmona Ricardo, Rivera-Barahona Ana, Nevado Julian, Schwartzmann Sarina, Ehmke Nadja, Lapunzina Pablo, Otaify Ghada A, Temtamy Samia, Aglan Mona, Boschann Felix, Ruiz-Perez Victor |
ADGRV1 Variants in Febrile Seizures/Epilepsy With Antecedent Febrile Seizures and Their Associations With Audio-Visual Abnormalities. Frontiers in molecular neuroscience 2022 7 15 864074. Zhou Peng, Meng Heng, Liang Xiaoyu, Lei Xiaoyun, Zhang Jingwen, Bian Wenjun, He Na, Lin Zhijian, Song Xingwang, Zhu Weiwen, Hu Bin, Li Bingmei, Yan Limin, Tang Bin, Su Tao, Liu Hankui, Mao Yong, Zhai Qiongxiang, Yi Yongho |
Phenotype and genotype spectrum of variants in guanine nucleotide exchange factor genes in a broad cohort of Iranian patients. Molecular genetics & genomic medicine 2022 2 10 (4): e1894. Mosallaei Meysam, Ehtesham Naeim, Beheshtian Maryam, Khoshbakht Shahrouz, Davarnia Behzad, Kahrizi Kimia, Najmabadi Hosse |
Phenotypic and genetic characteristics of 24 cases of early infantile epileptic encephalopathy in East China, including a rare case of biallelic UGDH mutations. Molecular genetics & genomic medicine 2023 8 e2269. Liangliang Jiang, Shaohua Bi, Li Lin, Fan He, Fang De |
ATP6V1A variants are associated with childhood epilepsy with favorable outcome. Seizure 2023 8 . Bin Li, Song Lan, Xiao-Rong Liu, Jing-Jing Ji, Yun-Yan He, Dong-Ming Zhang, Jie Xu, Hui Sun, Zhen Shi, Jie Wang, Yang Ti |
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 |
New pathogenic variant in DLX5: New clues for a clinical spectrum from split-hand-foot malformation to fibular aplasia, tibial campomelia and oligosyndactyly. Frontiers in genetics 2023 5 14 1165780. Anna Sifre-Ruiz, Amaia Sagasta, Erika Santos, Guiomar Perez de Nanclares, Karen E Hea |
Association of FAT1 with focal epilepsy and correlation between seizure relapse and gene expression stage. Seizure 2023 3 . Zou Dong-Fang, Li Xiao-Yan, Lu Xin-Guo, Wang Huai-Li, Song Wang, Zhang Meng-Wen, Liu Xiao-Rong, Li Bing-Mei, Liao Jian-Xiang, Zhong Jian-Min, Meng Heng, Li B |
Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study. Frontiers in genetics 2023 3 14 1032346. Huang Yanlin, Liu Chang, Ding Hongke, Wang Yunan, Yu Lihua, Guo Fangfang, Li Fake, Shi Xiaomei, Zhang Yan, Yin Aih |
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- Page last updated:Mar 25, 2024
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