Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 36 Records) |
Query Trace: Intellectual disabilities[original query] |
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Characteristics of Alpha Band Frequency in Adolescents with Bipolar II Disorder: A Resting-State QEEG Study. Iranian journal of psychiatry 2015 10 (1): 8-12. Moeini Mahdi, Khaleghi Ali, Mohammadi Mohammad Re |
RAB39B gene mutations are not a common cause of Parkinson's disease or dementia with Lewy bodies. Neurobiology of aging 2016 Mar 45 107-108. Hodges Kyndall, Brewer Sheridan S, Labbé Catherine, Soto-Ortolaza Alexandra I, Walton Ronald L, Strongosky Audrey J, Uitti Ryan J, van Gerpen Jay A, Ertekin-Taner Nilüfer, Kantarci Kejal, Lowe Val J, Parisi Joseph E, Savica Rodolfo, Graff-Radford Jonathan, Jones David T, Knopman David S, Petersen Ronald C, Murray Melissa E, Graff-Radford Neill R, Ferman Tanis J, Dickson Dennis W, Wszolek Zbigniew K, Boeve Bradley F, Ross Owen A, Lorenzo-Betancor Oswal |
A new prognostic index of severity of intellectual disabilities in Cornelia de Lange syndrome. American journal of medical genetics. Part C, Seminars in medical genetics 2016 May . Cereda Anna, Mariani Milena, Rebora Paola, Sajeva Anna, Ajmone Paola Francesca, Gervasini Cristina, Russo Silvia, Kullmann Gaia, Valsecchi Grazia, Selicorni Ange |
Molecular Genetic Contributions to Social Deprivation and Household Income in UK Biobank.
Current biology : CB 2016 11 26 (22): 3083-3089. Hill W David, Hagenaars Saskia P, Marioni Riccardo E, Harris Sarah E, Liewald David C M, Davies Gail, Okbay Aysu, McIntosh Andrew M, Gale Catharine R, Deary Ian |
VNTR-DAT1 and COMTVal158Met Genotypes Modulate Mental Flexibility and Adaptive Behavior Skills in Down Syndrome. Frontiers in behavioral neuroscience 2016 10 193. Del Hoyo Laura, Xicota Laura, Langohr Klaus, Sánchez-Benavides Gonzalo, de Sola Susana, Cuenca-Royo Aida, Rodriguez Joan, Rodríguez-Morató Jose, Farré Magí, Dierssen Mara, de la Torre Rafael, |
Pathogenic copy number variants in patients with congenital hypopituitarism associated with complex phenotypes. Clinical endocrinology 2017 12 88 (3): 425-431. Correa Fernanda A, Jorge Alexander Al, Nakaguma Marilena, Canton Ana Pm, Costa Silvia S, Funari Mariana F, Lerario Antonio M, Franca Marcela M, Carvalho Luciani R, Krepischi Ana Cv, Arnhold Ivo Jp, Rosenberg Carla, Mendonca Berenice |
Marked yield of re-evaluating phenotype and exome/target sequencing data in 33 individuals with intellectual disabilities. American journal of medical genetics. Part A 2017 11 176 (1): 107-115. Xiao Bing, Qiu Wenjuan, Ji Xing, Liu Xiaoqing, Huang Zhuo, Liu Huili, Fan Yanjie, Xu Yan, Liu Yu, Yie Hui, Wei Wei, Yan Hui, Gong Zhuwen, Shen Lixiao, Sun |
Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis. European journal of human genetics : EJHG 2018 Apr . Mary Laura, Piton Amélie, Schaefer Elise, Mattioli Francesca, Nourisson Elsa, Feger Claire, Redin Claire, Barth Magali, El Chehadeh Salima, Colin Estelle, Coubes Christine, Faivre Laurence, Flori Elisabeth, Geneviève David, Capri Yline, Perrin Laurence, Fabre-Teste Jennifer, Timbolschi Dana, Verloes Alain, Olaso Robert, Boland Anne, Deleuze Jean-François, Mandel Jean-Louis, Gerard Bénédicte, Giurgea Iri |
Neurodevelopmental risk copy number variants in adults with intellectual disabilities and comorbid psychiatric disorders. The British journal of psychiatry : the journal of mental science 2018 May 212 (5): 287-294. Thygesen Johan H, Wolfe Kate, McQuillin Andrew, Viñas-Jornet Marina, Baena Neus, Brison Nathalie, D'Haenens Greet, Esteba-Castillo Susanna, Gabau Elisabeth, Ribas-Vidal Núria, Ruiz Anna, Vermeesch Joris, Weyts Eddy, Novell Ramon, Buggenhout Griet Van, Strydom André, Bass Nick, Guitart Miriam, Vogels Anni |
Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexes. Human genetics 2018 10 138 (1): 21-35. Umeki Ikumi, Niihori Tetsuya, Abe Taiki, Kanno Shin-Ichiro, Okamoto Nobuhiko, Mizuno Seiji, Kurosawa Kenji, Nagasaki Keisuke, Yoshida Makoto, Ohashi Hirofumi, Inoue Shin-Ichi, Matsubara Yoichi, Fujiwara Ikuma, Kure Shigeo, Aoki Yo |
Delayed Onset of Sleep in Adolescents With PAX6 Haploinsufficiency. Biological research for nursing 2018 1 20 (2): 237-243. Hanish Alyson E, Han Joan |
Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice. Journal of medical genetics 2019 8 56 (10): 701-710. Jønch Aia Elise, Douard Elise, Moreau Clara, Van Dijck Anke, Passeggeri Marzia, Kooy Frank, Puechberty Jacques, Campbell Carolyn, Sanlaville Damien, Lefroy Henrietta, Richetin Sonia, Pain Aurelie, Geneviève David, Kini Usha, Le Caignec Cédric, Lespinasse James, Skytte Anne-Bine, Isidor Bertrand, Zweier Christiane, Caberg Jean-Hubert, Delrue Marie-Ange, Møller Rikke Steensbjerre, Bojesen Anders, Hjalgrim Helle, Brasch-Andersen Charlotte, Lemyre Emmanuelle, Ousager Lilian Bomme, Jacquemont Sébastien, |
Allele frequency of pathogenic variants related to adult-onset Mendelian diseases. Clinical genetics 2019 5 96 (3): 226-235. Li Xiang, Jin Yan, Yin Yux |
Damaging coding variants within kainate receptor channel genes are enriched in individuals with schizophrenia, autism and intellectual disabilities. Scientific reports 2019 Dec 9 (1): 19215. Koromina Maria, Flitton Miles, Blockley Alix, Mellor Ian R, Knight Helen |
A candidate gene analysis and GWAS for genes associated with maternal nondisjunction of chromosome 21.
PLoS genetics 2019 12 15 (12): e1008414. Chernus Jonathan M, Allen Emily G, Zeng Zhen, Hoffman Eva R, Hassold Terry J, Feingold Eleanor, Sherman Stephanie |
Differences in the importance of microcephaly, dysmorphism, and epilepsy in the detection of pathogenic CNVs in ID and ASD patients. PeerJ 2019 7 e7979. Capkova Zuzana, Capkova Pavlina, Srovnal Josef, Staffova Katerina, Becvarova Vera, Trkova Marie, Adamova Katerina, Santava Alena, Curtisova Vaclava, Hajduch Marian, Prochazka Mart |
Validation of a Screening Method for Dynamic Mutations in the FMR1 Gene. Annals of clinical and laboratory science 2019 1 48 (6): 810-813. Škrlec Ivana, Bariši? Karmela, Wagner Jasen |
Study of telomere length in men who carry a fragile X premutation or full mutation allele. Human genetics 2020 6 139 (12): 1531-1539. Albizua Igor, Chopra Pankaj, Allen Emily G, He Weiya, Amin Ashima S, Sherman Stephanie |
Genotype and Phenotype Correlations for TBL1XR1 in Neurodevelopmental Disorders. Journal of molecular neuroscience : MN 2020 6 70 (12): 2085-2092. Quan Yingting, Zhang Qiumeng, Chen Meilin, Wu Huidan, Ou Jianjun, Shen Yidong, Li Kuokuo, Xun Guanglei, Zhao Jingping, Hu Zhengmao, Xia Kun, Guo H |
Genetic Causes of Severe Childhood Obesity: A Remarkably High Prevalence in an Inbred Population of Pakistan. Diabetes 2020 Apr . Saeed Sadia, Arslan Muhammad, Manzoor Jaida, Din Sadia M, Janjua Qasim M, Ayesha Hina, Ain Qura-Tul, Inam Laraib, Lobbens Stephane, Vaillant Emmanuel, Durand Emmanuelle, Derhourhi Mehdi, Amanzougarene Souhila, Badreddine Alaa, Berberian Lionel, Gaget Stefan, Khan Waqas I, Butt Taeed A, Bonnefond Amélie, Froguel Philip |
Pharmacogenomic Studies in Intellectual Disabilities and Autism Spectrum Disorder: A Systematic Review. Canadian journal of psychiatry. Revue canadienne de psychiatrie 2020 11 66 (12): 1019-1041. Yoshida Kazunari, Koyama Emiko, Zai Clement C, Beitchman Joseph H, Kennedy James L, Lunsky Yona, Desarkar Pushpal, Müller Daniel |
Copy Number Variation Analysis Increases the Number of Candidate Loci Associated with Pediatric Obesity. Hormone research in paediatrics 2021 9 94 (7-8): 251-262. Madeo Simona Filomena, Stanghellini Ilaria, Predieri Barbara, Ciancia Silvia, Leo Francesco, Bruzzi Patrizia, Calabrese Olga, Iughetti Loren |
The landscape of autosomal-recessive pathogenic variants in European populations reveals phenotype-specific effects. American journal of human genetics 2021 3 108 (4): 608-619. Fridman Hila, Yntema Helger G, Mägi Reedik, Andreson Reidar, Metspalu Andres, Mezzavila Massimo, Tyler-Smith Chris, Xue Yali, Carmi Shai, Levy-Lahad Ephrat, Gilissen Christian, Brunner Han |
Genome sequencing broadens the range of contributing variants with clinical implications in schizophrenia. Translational psychiatry 2021 Feb 11 (1): 84. Mojarad Bahareh A, Yin Yue, Manshaei Roozbeh, Backstrom Ian, Costain Gregory, Heung Tracy, Merico Daniele, Marshall Christian R, Bassett Anne S, Yuen Ryan K |
A common variant of CNTNAP2 is associated with sub-threshold autistic traits and intellectual disability. PloS one 2021 12 16 (12): e0260548. Shiota Yuka, Hirosawa Tetsu, Yoshimura Yuko, Tanaka Sanae, Hasegawa Chiaki, Iwasaki Sumie, An Kyung-Min, Soma Daiki, Sano Masuhiko, Yokoyama Shigeru, Kikuchi Mitsu |
Further delineation of phenotypic spectrum of SCN2A-related disorder. American journal of medical genetics. Part A 2021 12 188 (3): 867-877. Richardson Ruth, Baralle Diana, Bennett Christopher, Briggs Tracy, Bijlsma Emilia K, Clayton-Smith Jill, Constantinou Panayiotis, Foulds Nicola, Jarvis Joanna, Jewell Rosalyn, Johnson Diana S, McEntagart Meriel, Parker Michael J, Radley Jessica A, Robertson Lisa, Ruivenkamp Claudia, Rutten Julie W, Tellez James, Turnpenny Peter D, Wilson Valerie, Wright Michael, Balasubramanian Mee |
MECP2 Dysautonomia Phenotypes in Boys. Pediatric neurology 2022 7 134 31-36. Courgeon Lisa, Uguen Kévin, Lefranc Jérémie, Lesca Gaetan, Ropars Juliet |
FUS-P525L Juvenile Amyotrophic Lateral Sclerosis and Intellectual Disability: Evidence for Association and Oligogenic Inheritance. Neurology. Genetics 2022 7 8 (4): e200009. Goldstein Orly, Inbar Talya, Kedmi Merav, Gana-Weisz Mali, Abramovich Beatrice, Orr-Urtreger Avi, Drory Vivian |
A Study of the Genomic Variations Associated with Autistic Spectrum Disorders in a Russian Cohort of Patients Using Whole-Exome Sequencing. Genes 2022 5 13 (5): . Gibitova Ekaterina A, Dobrynin Pavel V, Pomerantseva Ekaterina A, Musatova Elizaveta V, Kostareva Anna, Evsyukov Igor, Rychkov Sergey Y, Zhukova Olga V, Naumova Oxana Y, Grigorenko Elena |
Carrier frequency and incidence of alpha-mannosidosis: population database-based study-focus on the East Asian and Korean population. Frontiers in genetics 2023 12 14 1297543. Jong Eun Park, Taeheon Lee, Kyeongsu Ha, Eun Hye Cho, Chang-Seok |
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- Page last updated:Apr 22, 2024
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