Human Genome Epidemiology Literature Finder
Reproductive and Child Health
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Query Trace: Learning Disability [original query] |
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A functional polymorphism in the succinate-semialdehyde dehydrogenase (aldehyde dehydrogenase 5 family, member A1) gene is associated with cognitive ability. Molecular psychiatry 2004 Jun 9 (6): 582-6. Plomin R, Turic D M, Hill L, Turic D E, Stephens M, Williams J, Owen M J, O'Donovan M |
GJB2 mutations and additional disabilities in a pediatric cochlear implant population. International journal of pediatric otorhinolaryngology 2006 Mar 70 (3): 493-500. Wiley S, Choo D, Meinzen-Derr J, Hilbert L, Greinwald |
Psychosocial, cognitive, and motor functioning in patients with suspected Sotos syndrome: a comparison between patients with and without NSD1 gene alterations. Developmental medicine and child neurology 2006 Jul 48 (7): 582-8. de Boer L, Röder I, Wit J |
Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States. Genetics in medicine : official journal of the American College of Medical Genetics 2007 Feb 9 (2): 88-100. Au Kit Sing, Williams Aimee T, Roach E Steve, Batchelor Lori, Sparagana Steven P, Delgado Mauricio R, Wheless James W, Baumgartner James E, Roa Benjamin B, Wilson Carolyn M, Smith-Knuppel Teresa K, Cheung Min-Yuen C, Whittemore Vicky H, King Terri M, Northrup Ho |
A common variant in the 3'UTR of the GRIK4 glutamate receptor gene affects transcript abundance and protects against bipolar disorder. Proceedings of the National Academy of Sciences of the United States of America 2008 Sep 105 (39): 14940-5. Pickard B S, Knight H M, Hamilton R S, Soares D C, Walker R, Boyd J K F, Machell J, Maclean A, McGhee K A, Condie A, Porteous D J, St Clair D, Davis I, Blackwood D H R, Muir W |
Epilepsy in Rett syndrome: association between phenotype and genotype, and implications for practice. Seizure 2011 Oct 20 (8): 646-9. Cardoza Basil, Clarke Angus, Wilcox Jodie, Gibbon Frances, Smith Phil E M, Archer Hayley, Hryniewiecka-Jaworska Anna, Kerr Mi |
Learning disability and oligodendrocyte myelin glycoprotein (OMGP) gene in neurofibromatosis type 1. The Turkish journal of pediatrics 0 53 (1): 75-8. Terzi Yunus Kasim, O?uzkan-Balci Sibel, Anlar Banu, Erdo?an-Bakar Emel, Ayter Sükri |
Association of the rs3743205 variant of DYX1C1 with dyslexia in Chinese children. Behavioral and brain functions : BBF 2011 7 (1): 16. Lim Cadmon K P, Ho Connie S H, Chou Crystal H N, Waye Mary M |
SNP variations in the 7q33 region containing DGKI are associated with dyslexia in the Finnish and German populations. Behavior genetics 2011 Jan 41 (1): 134-40. Matsson Hans, Tammimies Kristiina, Zucchelli Marco, Anthoni Heidi, Onkamo Päivi, Nopola-Hemmi Jaana, Lyytinen Heikki, Leppanen Paavo H T, Neuhoff Nina, Warnke Andreas, Schulte-Körne Gert, Schumacher Johannes, Nöthen Markus M, Kere Juha, Peyrard-Janvid Myri |
Wild-Type Mitochondrial DNA Copy Number in Urinary Cells as a Useful Marker for Diagnosing Severity of the Mitochondrial Diseases. PloS one 2013 8 (6): e67146. Liu Hui, Ma Yinan, Fang Fang, Zhang Ying, Zou Liping, Yang Yanling, Zhu Sainan, Wang Songtao, Zheng Xuefei, Pei Pei, Li Lin, Wu Hairong, Xiao Yang, Xu Yufeng, Wang Liwen, Cao Yanyan, Pan Hong, Qi |
Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services. Gene 2014 Feb 535 (1): 70-8. Roberts Jennifer L, Hovanes Karine, Dasouki Majed, Manzardo Ann M, Butler Merlin |
CNTN6 copy number variations in 14 patients: a possible candidate gene for neurodevelopmental and neuropsychiatric disorders. Journal of neurodevelopmental disorders 2015 7 (1): 26. Hu Jie, Liao Jun, Sathanoori Malini, Kochmar Sally, Sebastian Jessica, Yatsenko Svetlana A, Surti Urvas |
Deficits in learning and memory in mice with a mutation of the candidate dyslexia susceptibility gene Dyx1c1. Brain and language 2015 May . Rendall Amanda R, Tarkar Aarti, Contreras-Mora Hector M, LoTurco Joseph J, Fitch R Hol |
Neurodevelopmental and Cognitive Outcomes of Classical Homocystinuria: Experience from Qatar. JIMD reports 2015 21 89-95. El Bashir Haitham, Dekair Lubna, Mahmoud Yasmeen, Ben-Omran Tawf |
Cognitive and Neurobehavioral Profile in Boys With Duchenne Muscular Dystrophy. Journal of child neurology 2015 Oct 30 (11): 1472-82. Banihani Rudaina, Smile Sharon, Yoon Grace, Dupuis Annie, Mosleh Maureen, Snider Andrea, McAdam Lau |
A method for integrating neuroimaging into genetic models of learning performance. Genetic epidemiology 2017 Jan 41 (1): 4-17. Mehta Chintan M, Gruen Jeffrey R, Zhang Hepi |
Enrichment of putatively damaging rare variants in the DYX2 locus and the reading-related genes CCDC136 and FLNC. Human genetics 2017 Sep . Adams Andrew K, Smith Shelley D, Truong Dongnhu T, Willcutt Erik G, Olson Richard K, DeFries John C, Pennington Bruce F, Gruen Jeffrey |
Impact of IQ on the diagnostic yield of chromosomal microarray in a community sample of adults with schizophrenia. Genome medicine 2017 Nov 9 (1): 105. Lowther Chelsea, Merico Daniele, Costain Gregory, Waserman Jack, Boyd Kerry, Noor Abdul, Speevak Marsha, Stavropoulos Dimitri J, Wei John, Lionel Anath C, Marshall Christian R, Scherer Stephen W, Bassett Anne |
Association analysis of dyslexia candidate genes in a Dutch longitudinal sample. European journal of human genetics : EJHG 2017 1 25 (4): 452-460. Carrion-Castillo Amaia, Maassen Ben, Franke Barbara, Heister Angelien, Naber Marlies, van der Leij Aryan, Francks Clyde, Fisher Simon |
Genetic generalized epilepsies. Epilepsia 2018 5 59 (6): 1148-1153. Mullen Saul A, Berkovic Samuel F, |
Isoform-specific NF1 mRNA levels correlate with disease severity in Neurofibromatosis type 1. Orphanet journal of rare diseases 2019 11 14 (1): 261. Assunto Antonia, Ferrara Ursula, De Luca Alessandro, Pivonello Claudia, Lombardo Lisa, Piscitelli Annapina, Tortora Cristina, Pinna Valentina, Daniele Paola, Pivonello Rosario, Russo Maria Giovanna, Limongelli Giuseppe, Colao Annamaria, Tartaglia Marco, Strisciuglio Pietro, Melis Danie |
The Association of Scoliosis and NSD1 Gene Deletion in Sotos Syndrome Patients. Spine 2020 12 46 (13): E726-E733. Machida Masafumi, Katoh Hiroyuki, Machida Masayoshi, Miyake Atsushi, Taira Katsuaki, Ohashi Hirofu |
Phenotype Analysis of Fused in Sarcoma Mutations in Amyotrophic Lateral Sclerosis. Neurology. Genetics 2022 9 8 (5): e200011. Grassano Maurizio, Brodini Giorgia, De Marco Giovanni, Casale Federico, Fuda Giuseppe, Salamone Paolina, Brunetti Maura, Sbaiz Luca, Gallone Salvatore, Cugnasco Paolo, Bombaci Alessandro, Vasta Rosario, Manera Umberto, Canosa Antonio, Moglia Cristina, Calvo Andrea, Traynor Bryan J, Chio Adria |
Cognitive, adaptive and behavioral profile in Sotos syndrome children with 5q35 microdeletion or intragenic variants. American journal of medical genetics. Part A 2023 4 . Siracusano Martina, Riccioni Assia, Frattale Ilaria, Arturi Lucrezia, Dante Caterina, Galasso Cinzia, Gialloreti Leonardo Emberti, Conteduca Giuseppina, Testa Barbara, Malacarne Michela, Coviello Domenico, Mazzone Lui |
Investigation of the forkhead box protein P2 gene by the next-generation sequence analysis method in children diagnosed with specific learning disorder. Psychiatric genetics 2023 1 33 (1): 8-19. Yaz?c? Merve, Yekta? Çi?dem, Eröz Recep, Kaplan Karakaya Elif Sümeyra, Sar?gedik En |
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