These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

142 related articles for article (PubMed ID: 29288087)

  • 1. The TBR1-related autistic-spectrum-disorder phenotype and its clinical spectrum.
    McDermott JH; Study DDD; Clayton-Smith J; Briggs TA
    Eur J Med Genet; 2018 May; 61(5):253-256. PubMed ID: 29288087
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A de novo frameshift pathogenic variant in TBR1 identified in autism without intellectual disability.
    Sapey-Triomphe LA; Reversat J; Lesca G; Chatron N; Bussa M; Mazoyer S; Schmitz C; Sonié S; Edery P
    Hum Genomics; 2020 Sep; 14(1):32. PubMed ID: 32948248
    [TBL] [Abstract][Full Text] [Related]  

  • 3. De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature.
    Nambot S; Faivre L; Mirzaa G; Thevenon J; Bruel AL; Mosca-Boidron AL; Masurel-Paulet A; Goldenberg A; Le Meur N; Charollais A; Mignot C; Petit F; Rossi M; Metreau J; Layet V; Amram D; Boute-Bénéjean O; Bhoj E; Cousin MA; Kruisselbrink TM; Lanpher BC; Klee EW; Fiala E; Grange DK; Meschino WS; Hiatt SM; Cooper GM; Olivié H; Smith WE; Dumas M; Lehman A; ; Inglese C; Nizon M; Guerrini R; Vetro A; Kaplan ES; Miramar D; Van Gils J; Fergelot P; Bodamer O; Herkert JC; Pajusalu S; Õunap K; Filiano JJ; Smol T; Piton A; Gérard B; Chantot-Bastaraud S; Bienvenu T; Li D; Juusola J; Devriendt K; Bilan F; Poé C; Chevarin M; Jouan T; Tisserant E; Rivière JB; Tran Mau-Them F; Philippe C; Duffourd Y; Dobyns WB; Hevner R; Thauvin-Robinet C
    Eur J Hum Genet; 2020 Jun; 28(6):770-782. PubMed ID: 32005960
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Functional characterization of TBR1 variants in neurodevelopmental disorder.
    den Hoed J; Sollis E; Venselaar H; Estruch SB; Deriziotis P; Fisher SE
    Sci Rep; 2018 Sep; 8(1):14279. PubMed ID: 30250039
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Mutations in TBR1 gene leads to cortical malformations and intellectual disability.
    Vegas N; Cavallin M; Kleefstra T; de Boer L; Philbert M; Maillard C; Boddaert N; Munnich A; Hubert L; Bery A; Besmond C; Bahi-Buisson N
    Eur J Med Genet; 2018 Dec; 61(12):759-764. PubMed ID: 30268909
    [TBL] [Abstract][Full Text] [Related]  

  • 6. De novo TBR1 mutations in sporadic autism disrupt protein functions.
    Deriziotis P; O'Roak BJ; Graham SA; Estruch SB; Dimitropoulou D; Bernier RA; Gerdts J; Shendure J; Eichler EE; Fisher SE
    Nat Commun; 2014 Sep; 5():4954. PubMed ID: 25232744
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Two de novo variations identified by massively parallel sequencing in 13 Chinese families with children diagnosed with autism spectrum disorder.
    Li SJ; Yu SS; Luo HY; Li X; Rao B; Wang Y; Li ZZ; Liu G; Zou LP; Zhang JS; Feng C; Liu J; Liu JW; Hu N; Chen XQ; Yu SY; Li K; He MW; Yu XG; Wang J; Guo SL; Chen ZY; Zhang L; Ma L
    Clin Chim Acta; 2018 Apr; 479():144-147. PubMed ID: 29366832
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Increased burden of deleterious variants in essential genes in autism spectrum disorder.
    Ji X; Kember RL; Brown CD; Bućan M
    Proc Natl Acad Sci U S A; 2016 Dec; 113(52):15054-15059. PubMed ID: 27956632
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Variants in TTC25 affect autistic trait in patients with autism spectrum disorder and general population.
    Vojinovic D; Brison N; Ahmad S; Noens I; Pappa I; Karssen LC; Tiemeier H; van Duijn CM; Peeters H; Amin N
    Eur J Hum Genet; 2017 Aug; 25(8):982-987. PubMed ID: 28513607
    [TBL] [Abstract][Full Text] [Related]  

  • 10. The effect of epilepsy on autistic symptom severity assessed by the social responsiveness scale in children with autism spectrum disorder.
    Ko C; Kim N; Kim E; Song DH; Cheon KA
    Behav Brain Funct; 2016 Jun; 12(1):20. PubMed ID: 27350381
    [TBL] [Abstract][Full Text] [Related]  

  • 11. TBR1 regulates autism risk genes in the developing neocortex.
    Notwell JH; Heavner WE; Darbandi SF; Katzman S; McKenna WL; Ortiz-Londono CF; Tastad D; Eckler MJ; Rubenstein JL; McConnell SK; Chen B; Bejerano G
    Genome Res; 2016 Aug; 26(8):1013-22. PubMed ID: 27325115
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Genotype and Phenotype Correlations for TBL1XR1 in Neurodevelopmental Disorders.
    Quan Y; Zhang Q; Chen M; Wu H; Ou J; Shen Y; Li K; Xun G; Zhao J; Hu Z; Xia K; Guo H
    J Mol Neurosci; 2020 Dec; 70(12):2085-2092. PubMed ID: 32524419
    [TBL] [Abstract][Full Text] [Related]  

  • 13. An atypical autistic phenotype associated with a 2q13 microdeletion: a case report.
    Guivarch J; Chatel C; Mortreux J; Missirian C; Philip N; Poinso F
    J Med Case Rep; 2018 Mar; 12(1):79. PubMed ID: 29549886
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Structure and function of neonatal social communication in a genetic mouse model of autism.
    Takahashi T; Okabe S; Broin PÓ; Nishi A; Ye K; Beckert MV; Izumi T; Machida A; Kang G; Abe S; Pena JL; Golden A; Kikusui T; Hiroi N
    Mol Psychiatry; 2016 Sep; 21(9):1208-14. PubMed ID: 26666205
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Autism spectrum disorder in Phelan-McDermid syndrome: initial characterization and genotype-phenotype correlations.
    Oberman LM; Boccuto L; Cascio L; Sarasua S; Kaufmann WE
    Orphanet J Rare Dis; 2015 Aug; 10():105. PubMed ID: 26306707
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Characterization of the TBR1 interactome: variants associated with neurodevelopmental disorders disrupt novel protein interactions.
    Sollis E; den Hoed J; Quevedo M; Estruch SB; Vino A; Dekkers DHW; Demmers JAA; Poot R; Deriziotis P; Fisher SE
    Hum Mol Genet; 2023 Apr; 32(9):1497-1510. PubMed ID: 36579832
    [TBL] [Abstract][Full Text] [Related]  

  • 17. VariCarta: A Comprehensive Database of Harmonized Genomic Variants Found in Autism Spectrum Disorder Sequencing Studies.
    Belmadani M; Jacobson M; Holmes N; Phan M; Nguyen T; Pavlidis P; Rogic S
    Autism Res; 2019 Dec; 12(12):1728-1736. PubMed ID: 31705629
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Salivary miRNA profiles identify children with autism spectrum disorder, correlate with adaptive behavior, and implicate ASD candidate genes involved in neurodevelopment.
    Hicks SD; Ignacio C; Gentile K; Middleton FA
    BMC Pediatr; 2016 Apr; 16():52. PubMed ID: 27105825
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Next Generation Sequencing of 134 Children with Autism Spectrum Disorder and Regression.
    Yin J; Chun CA; Zavadenko NN; Pechatnikova NL; Naumova OY; Doddapaneni HV; Hu J; Muzny DM; Schaaf CP; Grigorenko EL
    Genes (Basel); 2020 Jul; 11(8):. PubMed ID: 32722525
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Prospective investigation of FOXP1 syndrome.
    Siper PM; De Rubeis S; Trelles MDP; Durkin A; Di Marino D; Muratet F; Frank Y; Lozano R; Eichler EE; Kelly M; Beighley J; Gerdts J; Wallace AS; Mefford HC; Bernier RA; Kolevzon A; Buxbaum JD
    Mol Autism; 2017; 8():57. PubMed ID: 29090079
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.