Human Genome Epidemiology Literature Finder
Records 1 - 19 (of 19 Records) |
Query Trace: ARX[original query] |
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Screening of the ARX gene in 682 retarded males. European journal of human genetics : EJHG 2004 Sep 12 (9): 701-5. Grønskov Karen, Hjalgrim Helle, Nielsen Inge-Merete, Brøndum-Nielsen Kar |
Mutation screening of the ARX gene in patients with autism. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2007 Mar 144B (2): 228-30. Chaste Pauline, Nygren Gudrun, Anckarsäter Henrik, Råstam Maria, Coleman Mary, Leboyer Marion, Gillberg Christopher, Betancur Catali |
KIR/HLA ligand incompatibility in kidney transplantation. Transplantation 2007 Dec 84 (11): 1527-33. Kunert Kristina, Seiler Marleen, Mashreghi Mir Farzin, Klippert Katrin, Schönemann Constanze, Neumann Konrad, Pratschke Johann, Reinke Petra, Volk Hans-Dieter, Kotsch Kat |
Polymorphisms of coding trinucleotide repeats of homeogenes in neurodevelopmental psychiatric disorders. Psychiatric genetics 2008 Dec 18 (6): 295-301. Laroche Fabrice, Ramoz Nicolas, Leroy Sophie, Fortin Célia, Rousselot-Paillet Bérangère, Philippe Anne, Colleaux Laurence, Bresson Jean-Louis, Mogenet Agnès, Golse Bernard, Mouren-Simeoni Marie-Christine, Gorwood Philip, Galli Thierry, Simonneau Michel, Krebs Marie-Odile, Robel Lauren |
STXBP1 mutations cause not only Ohtahara syndrome but also West syndrome--result of Japanese cohort study. Epilepsia 2011 1 51 (12): 2449-52. Otsuka Motoko, Oguni Hirokazu, Liang Jao-Shwann, Ikeda Hiroko, Imai Katsumi, Hirasawa Kyoko, Imai Kaoru, Tachikawa Emiko, Shimojima Keiko, Osawa Makiko, Yamamoto Toshiyu |
ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia. American journal of medical genetics. Part A 2011 1 155A (1): 98-105. Cossée Mireille, Faivre Laurence, Philippe Christophe, Hichri Heifa, de Saint-Martin Anne, Laugel Vincent, Bahi-Buisson Nadia, Lemaitre Jean-François, Leheup Bruno, Delobel Bruno, Demeer Bénédicte, Poirier Karine, Biancalana Valérie, Pinoit Jean-Michel, Julia Sophie, Chelly Jamel, Devys Didier, Mandel Jean-Lou |
Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families. Neurogenetics 2014 May 15 (2): 117-27. Egger Gerald, Roetzer Katharina M, Noor Abdul, Lionel Anath C, Mahmood Huda, Schwarzbraun Thomas, Boright Oliver, Mikhailov Anna, Marshall Christian R, Windpassinger Christian, Petek Erwin, Scherer Stephen W, Kaschnitz Wolfgang, Vincent John |
Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome. Clinical genetics 2015 Jul . Dimassi S, Labalme A, Ville D, Calender A, Mignot C, Boutry-Kryza N, de Bellescize J, Rivier-Ringenbach C, Bourel-Ponchel E, Cheillan D, Simonet T, Maincent K, Rossi M, Till M, Edery P, Heron D, des Portes V, Sanlaville D, Lesca |
Analysis of mutations in 7 genes associated with neuronal excitability and synaptic transmission in a cohort of children with non-syndromic infantile epileptic encephalopathy. PloS one 2015 10 (5): e0126446. Kwong Anna Ka-Yee, Ho Alvin Chi-Chung, Fung Cheuk-Wing, Wong Virginia Chun-N |
Germline and somatic mutations in cortical malformations: Molecular defects in Argentinean patients with neuronal migration disorders. PloS one 2017 9 12 (9): e0185103. González-Morón Dolores, Vishnopolska Sebastián, Consalvo Damián, Medina Nancy, Marti Marcelo, Córdoba Marta, Vazquez-Dusefante Cecilia, Claverie Santiago, Rodríguez-Quiroga Sergio Alejandro, Vega Patricia, Silva Walter, Kochen Silvia, Kauffman Marcelo Andr |
Mutations of ARX and non-syndromic intellectual disability in Chinese population. Genes & genomics 2018 Sep . Wu Yufei, Zhang Huan, Liu Xiaofen, Shi Zhangyan, Li Hongling, Wang Zhibin, Jie Xiaoyong, Huang Shaoping, Zhang Fuchang, Li Junlin, Zhang Kejin, Gao Xiaoc |
Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Apr . Di Donato Nataliya, Timms Andrew E, Aldinger Kimberly A, Mirzaa Ghayda M, Bennett James T, Collins Sarah, Olds Carissa, Mei Davide, Chiari Sara, Carvill Gemma, Myers Candace T, Rivière Jean-Baptiste, Zaki Maha S, , Gleeson Joseph G, Rump Andreas, Conti Valerio, Parrini Elena, Ross M Elizabeth, Ledbetter David H, Guerrini Renzo, Dobyns William |
The maternal immune activation model uncovers a role for the Arx gene in GABAergic dysfunction in schizophrenia. Brain, behavior, and immunity 2019 6 81 161-171. Nakamura Jay P, Schroeder Anna, Hudson Matthew, Jones Nigel, Gillespie Brendan, Du Xin, Notaras Michael, Swaminathan Vaidy, Reay William R, Atkins Joshua R, Green Melissa J, Carr Vaughan J, Cairns Murray J, Sundram Suresh, Hill Rachel |
Delineation of molecular findings by whole-exome sequencing for suspected cases of paediatric-onset mitochondrial diseases in the Southern Chinese population. Human genomics 2020 Sep 14 (1): 28. Tsang Mandy H Y, Kwong Anna K Y, Chan Kate L S, Fung Jasmine L F, Yu Mullin H C, Mak Christopher C Y, Yeung Kit-San, Rodenburg Richard J T, Smeitink Jan A M, Chan Rachel, Tsoi Thomas, Hui Joannie, Wong Shelia S N, Tai Shuk-Mui, Chan Victor C M, Ma Che-Kwan, Fung Sharon T H, Wu Shun-Ping, Chak W K, Chung Brian H Y, Fung Cheuk-Wi |
Determining the best candidates for next-generation sequencing-based gene panel for evaluation of early-onset epilepsy. Molecular genetics & genomic medicine 2020 7 8 (9): e1376. Lee Jiwon, Lee Chung, Ki Chang-Seok, Lee Jeeh |
[Identification of a c.1A>G initial codon variation of ARX gene in a child with severe mental retardation]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020 2 37 (2): 131-134. Shen Xueping, Qi Fengfeng, Gu Chunji |
Advances in genomic diagnosis of a large cohort of Egyptian patients with disorders of sex development. American journal of medical genetics. Part A 2021 3 185 (6): 1666-1677. Mazen Inas, Mekkawy Mona, Kamel Alaa, Essawi Mona, Hassan Heba, Abdel-Hamid Mohamed, Amr Khalda, Soliman Hala, El-Ruby Mona, Torky Ahmed, El Gammal Mona, Elaidy Aya, Bashamboo Anu, McElreavey Kenne |
Clinical and genetic study of developmental and epileptic encephalopathy in Argentinean pediatric patients. Medicina 2022 12 82 (6): 856-865. Juanes Matías, Loos Mariana, Reyes Gabriela, Veneruzzo Gabriel, García Francisco Martín, Aschettino Giovanna, Calligaris Silvana, Martín María Eugenia, Foncuberta María Eugenia, Alonso Cristina N, Caraballo Roberto |
Whole-Genome Sequencing Among Kazakhstani Children with Early-Onset Epilepsy Revealed New Gene Variants and Phenotypic Variability. Molecular neurobiology 2023 4 . Mirgul Bayanova, Aidos K Bolatov, Assiya Bazenova, Lyazzat Nazarova, Alissa Nauryzbayeva, Naanlep Matthew Tanko, Saule Rakhimova, Nazerke Satvaldina, Diana Samakyzy, Ulan Kozhamkulov, Ulykbek Kairov, Ainur Akilzhanova, Dos Sarbass |
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