Human Genome Epidemiology Literature Finder
Rare Diseases
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Records 1 - 30 (of 33 Records) |
| Query Trace: Angelman Syndrome[original query] |
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| Screening for MECP2 mutations in Spanish patients with an unexplained mental retardation. Clinical genetics 2006 Aug 70 (2): 140-4. Tejada M-I, Peñagarikano O, Rodriguez-Revenga L, Martinez-Bouzas C, García B, Bádenas C, Guitart M, Minguez M, García-Alegría E, Sanz-Parra A, Beristain E, Milá |
| No association between the ryanodine receptor 3 gene and autism in a Japanese population. Psychiatry and clinical neurosciences 2008 Jun 62 (3): 341-4. Tochigi Mamoru, Kato Chieko, 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 |
| Association study of the commonly recognized breakpoints in chromosome 15q11-q13 in Japanese autistic patients. Psychiatric genetics 2008 Jun 18 (3): 133-6. Kato Chieko, Tochigi Mamoru, Koishi Shinko, Kawakubo Yuki, Yamamoto Kenji, Matsumoto Hideo, Hashimoto Ohiko, Kim Soo-Yung, Watanabe Keiichiro, Kano Yukiko, Nanba Eiji, Kato Nobumasa, Sasaki Tsuka |
Association of genetic variants on 15q12 with cortical thickness and cognition in schizophrenia.
Archives of general psychiatry 2011 Aug 68 (8): 781-90. Bakken Trygve E, Bloss Cinnamon S, Roddey J Cooper, Joyner Alexander H, Rimol Lars M, Djurovic Srdjan, Melle Ingrid, Sundet Kjetil, Agartz Ingrid, Andreassen Ole A, Dale Anders M, Schork Nicholas |
| Evaluation of PRDM9 variation as a risk factor for recurrent genomic disorders and chromosomal non-disjunction. Human genetics 2012 Sep 131 (9): 1519-24. Borel Christelle, Cheung Fanny, Stewart Helen, Koolen David A, Phillips Christopher, Thomas N Simon, Jacobs Patricia A, Eliez Stephan, Sharp Andrew |
| Ataxin-2 as potential disease modifier in C9ORF72 expansion carriers. Neurobiology of aging 2014 Oct 35 (10): 2421.e13-7. van Blitterswijk Marka, Mullen Bianca, Heckman Michael G, Baker Matthew C, DeJesus-Hernandez Mariely, Brown Patricia H, Murray Melissa E, Hsiung Ging-Yuek R, Stewart Heather, Karydas Anna M, Finger Elizabeth, Kertesz Andrew, Bigio Eileen H, Weintraub Sandra, Mesulam Marsel, Hatanpaa Kimmo J, White Charles L, Neumann Manuela, Strong Michael J, Beach Thomas G, Wszolek Zbigniew K, Lippa Carol, Caselli Richard, Petrucelli Leonard, Josephs Keith A, Parisi Joseph E, Knopman David S, Petersen Ronald C, Mackenzie Ian R, Seeley William W, Grinberg Lea T, Miller Bruce L, Boylan Kevin B, Graff-Radford Neill R, Boeve Bradley F, Dickson Dennis W, Rademakers Ro |
| Etiological yield of SNP microarrays in idiopathic intellectual disability. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2014 May 18 (3): 327-37. Utine G Eda, Halilo?lu Göknur, Volkan-Salanc? Bilge, Çetinkaya Arda, Kiper Pelin Ö, Alanay Yasemin, Akta? Dilek, Anlar Banu, Topçu Meral, Boduro?lu Koray, Alika?ifo?lu Mehm |
| Rapid Diagnosis of Imprinting Disorders Involving Copy Number Variation and Uniparental Disomy Using Genome-Wide SNP Microarrays. Cytogenetic and genome research 2015 Sep 146 (1): 9-18. Liu Weiqiang, Zhang Rui, Wei Jun, Zhang Huimin, Yu Guojiu, Li Zhihua, Chen Min, Sun Xiaofa |
| Parental Origin of Interstitial Duplications at 15q11.2-q13.3 in Schizophrenia and Neurodevelopmental Disorders. PLoS genetics 2016 May 12 (5): e1005993. Isles Anthony R, Ingason Andrés, Lowther Chelsea, Walters James, Gawlick Micha, Stöber Gerald, Rees Elliott, Martin Joanna, Little Rosie B, Potter Harry, Georgieva Lyudmila, Pizzo Lucilla, Ozaki Norio, Aleksic Branko, Kushima Itaru, Ikeda Masashi, Iwata Nakao, Levinson Douglas F, Gejman Pablo V, Shi Jianxin, Sanders Alan R, Duan Jubao, Willis Joseph, Sisodiya Sanjay, Costain Gregory, Werge Thomas M, Degenhardt Franziska, Giegling Ina, Rujescu Dan, Hreidarsson Stefan J, Saemundsen Evald, Ahn Joo Wook, Ogilvie Caroline, Girirajan Santhosh D, Stefansson Hreinn, Stefansson Kari, O'Donovan Michael C, Owen Michael J, Bassett Anne, Kirov Geor |
| [Copy number variants analysis in whole-genome of patients with lipoma tethered cord syndrome]. Zhonghua yi xue za zhi 2017 1 97 (1): 12-16. Tao B Z, Yu X G, Cheng C, Zong R, Zhao Z Y, Wang L K, Shang A |
| Association of NIPA1 repeat expansions with amyotrophic lateral sclerosis in a large international cohort. Neurobiology of aging 2019 02 74 234.e9-234.e15. Tazelaar Gijs H P, Dekker Annelot M, van Vugt Joke J F A, van der Spek Rick A, Westeneng Henk-Jan, Kool Lindy J B G, Kenna Kevin P, van Rheenen Wouter, Pulit Sara L, McLaughlin Russell L, Sproviero William, Iacoangeli Alfredo, Hübers Annemarie, Brenner David, Morrison Karen E, Shaw Pamela J, Shaw Christopher E, Panadés Monica Povedano, Mora Pardina Jesus S, Glass Jonathan D, Hardiman Orla, Al-Chalabi Ammar, van Damme Philip, Robberecht Wim, Landers John E, Ludolph Albert C, Weishaupt Jochen H, van den Berg Leonard H, Veldink Jan H, van Es Michael A, |
| [Variation analysis of the number of copies and methylene patterns in region 15q11-q13]. Medicina 2018 1 78 (1): 1-5. Laurito Sergio, Roqué Mar |
| Analysis of the GCG repeat length in NIPA1 gene in C9orf72-mediated ALS in a large Italian ALS cohort. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2019 7 40 (12): 2537-2540. Corrado Lucia, Brunetti Maura, Di Pierro Alice, Barberis Marco, Croce Roberta, Bersano Enrica, De Marchi Fabiola, Zuccalà Miriam, Barizzone Nadia, Calvo Andrea, Moglia Cristina, Mazzini Letizia, Chiò Adriano, D'Alfonso Sand |
| 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 |
| [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 |
| Genome-wide copy number variations in a large cohort of bantu African children. BMC medical genomics 2021 May 14 (1): 129. Yilmaz Feyza, Null Megan, Astling David, Yu Hung-Chun, Cole Joanne, Santorico Stephanie A, Hallgrimsson Benedikt, Manyama Mange, Spritz Richard A, Hendricks Audrey E, Shaikh Tamim |
| [Application analysis of noninvasive prenatal testing for fetal chromosome copy number variations in Chinese laboratories]. Zhonghua yi xue za zhi 2021 4 101 (15): 1088-1092. Shi J P, Tan P, Li J M, Zhang |
| 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 |
| New genes involved in Angelman syndrome-like: Expanding the genetic spectrum. PloS one 2021 16 (10): e0258766. Aguilera Cinthia, Gabau Elisabeth, Ramirez-Mallafré Ariadna, Brun-Gasca Carme, Dominguez-Carral Jana, Delgadillo Veronica, Laurie Steve, Derdak Sophia, Padilla Natàlia, de la Cruz Xavier, Capdevila Núria, Spataro Nino, Baena Neus, Guitart Miriam, Ruiz An |
| Genetic diagnoses in pediatric patients with epilepsy and comorbid intellectual disability. Epilepsy research 2021 1 170 106552. Yang Mei, Xu Bocheng, Wang Jiamin, Zhang Zhu, Xie Hanbing, Wang He, Hu Ting, Liu Shanli |
| 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 |
| 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, |
| [Diagnostic value of whole exome sequencing for patients with intellectual disability or global developmental delay]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2023 5 40 (6): 648-654. Yangyan Li, Dongzhu Lei, Caiyun Li, Dongqun Huang, Jufang Tan, Haoqing Zha |
| VAMP2 Gene-Related Neurodevelopmental Disorder: A Differential Diagnosis for Rett/Angelman-Type Spectrum of Disorders. Molecular syndromology 2023 10 14 (5): 449-456. Danielle Bogue, Gavin Ryan, Evangeline Wassmer, Genomics England Research Consortium, Swati Na |
| 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 |
| Population-Based Risk of Psychiatric Disorders Associated With Recurrent Copy Number Variants. JAMA psychiatry 2024 6 . Morteza Vaez, Simone Montalbano, Xabier Calle Sánchez, Kajsa-Lotta Georgii Hellberg, Saeid Rasekhi Dehkordi, Morten Dybdahl Krebs, Joeri Meijsen, John Shorter, Jonas Bybjerg-Grauholm, Preben B Mortensen, Anders D Børglum, David M Hougaard, Merete Nordentoft, Daniel H Geschwind, Alfonso Buil, Andrew J Schork, Dorte Helenius, Armin Raznahan, Wesley K Thompson, Thomas Werge, Andrés Ingason, |
| 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 |
| Dual rare genetic diseases in five pediatric patients: insights from next-generation diagnostic methods. Orphanet journal of rare diseases 2024 4 19 (1): 159. Yupeng Liu, Xue Ma, Zhehui Chen, Ruxuan He, Yao Zhang, Hui Dong, Yanyan Ma, Tongfei Wu, Qiao Wang, Yuan Ding, Xiyuan Li, Dongxiao Li, Jinqing Song, Mengqiu Li, Ying Jin, Jiong Qin, Yanling Ya |
- Page last reviewed:Feb 1, 2024
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