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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 4 (of 4 Records)

Query Trace: Intellectual Disability and MTOR[original query]
Overlapping 16p13.11 deletion and gain of copies variations associated with childhood onset psychosis include genes with mechanistic implications for autism associated pathways: Two case reports.
American journal of medical genetics. Part A 2016 Feb .
Brownstein Catherine A, Kleiman Robin J, Engle Elizabeth C, Towne Meghan C, D'Angelo Eugene J, Yu Timothy W, Beggs Alan H, Picker Jonathan, Fogler Jason M, Carroll Devon, Schmitt Rachel C O, Wolff Robert R, Shen Yiping, Lip Va, Bilguvar Kaya, Kim April, Tembulkar Sahil, O'Donnell Kyle, Gonzalez-Heydrich Jose
Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy.
Neurology. Genetics 2016 Dec 2 (6): e118.
Møller Rikke S, Weckhuysen Sarah, Chipaux Mathilde, Marsan Elise, Taly Valerie, Bebin E Martina, Hiatt Susan M, Prokop Jeremy W, Bowling Kevin M, Mei Davide, Conti Valerio, de la Grange Pierre, Ferrand-Sorbets Sarah, Dorfmüller Georg, Lambrecq Virginie, Larsen Line H G, Leguern Eric, Guerrini Renzo, Rubboli Guido, Cooper Gregory M, Baulac Stéphan
Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability.
Nature communications 2017 10 8 (1): 1052.
Reijnders M R F, Kousi M, van Woerden G M, Klein M, Bralten J, Mancini G M S, van Essen T, Proietti-Onori M, Smeets E E J, van Gastel M, Stegmann A P A, Stevens S J C, Lelieveld S H, Gilissen C, Pfundt R, Tan P L, Kleefstra T, Franke B, Elgersma Y, Katsanis N, Brunner H
Negative effect of treatment with mGluR5 negative allosteric modulator AFQ056 on blood biomarkers in young individuals with Fragile X syndrome.
SAGE open medicine 2024 11 12 20503121241282401.
Dragana Protic, Elizabeth Breeze, Guadalupe Mendoza, Marwa Zafarullah, Leonard Abbeduto, Randi Hagerman, Christopher Coffey, Merit Cudkowicz, Blythe Durbin-Johnson, Paul Ashwood, Elizabeth Berry-Kravis, Craig A Erickson, Robin Filipink, Andrea Gropman, Lenora Lehwald, Angela Maxwell-Horn, Stephanie Morris, Amanda Palladino Bennett, Lisa Prock, Amy Talboy, Nicole Tartaglia, Jeremy Veenstra-VanderWeele, Flora Tasso
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