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 *

216 related articles for article (PubMed ID: 34373061)

  • 1. ASH1L mutation caused seizures and intellectual disability in twin sisters.
    Liu H; Liu DT; Lan S; Yang Y; Huang J; Huang J; Fang L
    J Clin Neurosci; 2021 Sep; 91():69-74. PubMed ID: 34373061
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Expansion of the Genotypic and Phenotypic Spectrum of
    Cordova I; Blesson A; Savatt JM; Sveden A; Mahida S; Hazlett H; Rooney Riggs E; Chopra M;
    Genes (Basel); 2024 Mar; 15(4):. PubMed ID: 38674358
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Loss of histone methyltransferase ASH1L in the developing mouse brain causes autistic-like behaviors.
    Gao Y; Duque-Wilckens N; Aljazi MB; Wu Y; Moeser AJ; Mias GI; Robison AJ; He J
    Commun Biol; 2021 Jun; 4(1):756. PubMed ID: 34145365
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Deficiency of autism risk factor ASH1L in prefrontal cortex induces epigenetic aberrations and seizures.
    Qin L; Williams JB; Tan T; Liu T; Cao Q; Ma K; Yan Z
    Nat Commun; 2021 Nov; 12(1):6589. PubMed ID: 34782621
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Novel MCA/ID syndrome with ASH1L mutation.
    Okamoto N; Miya F; Tsunoda T; Kato M; Saitoh S; Yamasaki M; Kanemura Y; Kosaki K
    Am J Med Genet A; 2017 Jun; 173(6):1644-1648. PubMed ID: 28394464
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Vorinostat, a histone deacetylase inhibitor, ameliorates the sociability and cognitive memory in an Ash1L-deletion-induced ASD/ID mouse model.
    Gao Y; Aljazi MB; Wu Y; He J
    Neurosci Lett; 2021 Nov; 764():136241. PubMed ID: 34509565
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Brief Report: SETD2 Mutation in a Child with Autism, Intellectual Disabilities and Epilepsy.
    Lumish HS; Wynn J; Devinsky O; Chung WK
    J Autism Dev Disord; 2015 Nov; 45(11):3764-70. PubMed ID: 26084711
    [TBL] [Abstract][Full Text] [Related]  

  • 8. De novo loss-of-function variants of ASH1L are associated with an emergent neurodevelopmental disorder.
    Shen W; Krautscheid P; Rutz AM; Bayrak-Toydemir P; Dugan SL
    Eur J Med Genet; 2019 Jan; 62(1):55-60. PubMed ID: 29753921
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder.
    Koemans TS; Kleefstra T; Chubak MC; Stone MH; Reijnders MRF; de Munnik S; Willemsen MH; Fenckova M; Stumpel CTRM; Bok LA; Sifuentes Saenz M; Byerly KA; Baughn LB; Stegmann APA; Pfundt R; Zhou H; van Bokhoven H; Schenck A; Kramer JM
    PLoS Genet; 2017 Oct; 13(10):e1006864. PubMed ID: 29069077
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.
    Cheng H; Dharmadhikari AV; Varland S; Ma N; Domingo D; Kleyner R; Rope AF; Yoon M; Stray-Pedersen A; Posey JE; Crews SR; Eldomery MK; Akdemir ZC; Lewis AM; Sutton VR; Rosenfeld JA; Conboy E; Agre K; Xia F; Walkiewicz M; Longoni M; High FA; van Slegtenhorst MA; Mancini GMS; Finnila CR; van Haeringen A; den Hollander N; Ruivenkamp C; Naidu S; Mahida S; Palmer EE; Murray L; Lim D; Jayakar P; Parker MJ; Giusto S; Stracuzzi E; Romano C; Beighley JS; Bernier RA; Küry S; Nizon M; Corbett MA; Shaw M; Gardner A; Barnett C; Armstrong R; Kassahn KS; Van Dijck A; Vandeweyer G; Kleefstra T; Schieving J; Jongmans MJ; de Vries BBA; Pfundt R; Kerr B; Rojas SK; Boycott KM; Person R; Willaert R; Eichler EE; Kooy RF; Yang Y; Wu JC; Lupski JR; Arnesen T; Cooper GM; Chung WK; Gecz J; Stessman HAF; Meng L; Lyon GJ
    Am J Hum Genet; 2018 May; 102(5):985-994. PubMed ID: 29656860
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A Novel Kleefstra Syndrome-associated Variant That Affects the Conserved TPL
    Blackburn PR; Tischer A; Zimmermann MT; Kemppainen JL; Sastry S; Knight Johnson AE; Cousin MA; Boczek NJ; Oliver G; Misra VK; Gavrilova RH; Lomberk G; Auton M; Urrutia R; Klee EW
    J Biol Chem; 2017 Mar; 292(9):3866-3876. PubMed ID: 28057753
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A recurrent de novo CUX2 missense variant associated with intellectual disability, seizures, and autism spectrum disorder.
    Barington M; Risom L; Ek J; Uldall P; Ostergaard E
    Eur J Hum Genet; 2018 Sep; 26(9):1388-1391. PubMed ID: 29795476
    [TBL] [Abstract][Full Text] [Related]  

  • 13. De novo variants in the Helicase-C domain of CHD8 are associated with severe phenotypes including autism, language disability and overgrowth.
    An Y; Zhang L; Liu W; Jiang Y; Chen X; Lan X; Li G; Hang Q; Wang J; Gusella JF; Du Y; Shen Y
    Hum Genet; 2020 Apr; 139(4):499-512. PubMed ID: 31980904
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism.
    Kim HG; Rosenfeld JA; Scott DA; Bénédicte G; Labonne JD; Brown J; McGuire M; Mahida S; Naidu S; Gutierrez J; Lesca G; des Portes V; Bruel AL; Sorlin A; Xia F; Capri Y; Muller E; McKnight D; Torti E; Rüschendorf F; Hummel O; Islam Z; Kolatkar PR; Layman LC; Ryu D; Kong IK; Madan-Khetarpal S; Kim CH
    Mol Autism; 2019; 10():35. PubMed ID: 31649809
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities.
    Baasch AL; Hüning I; Gilissen C; Klepper J; Veltman JA; Gillessen-Kaesbach G; Hoischen A; Lohmann K
    Epilepsia; 2014 Apr; 55(4):e25-9. PubMed ID: 24579881
    [TBL] [Abstract][Full Text] [Related]  

  • 16. ASH1L haploinsufficiency results in autistic-like phenotypes in mice and links Eph receptor gene to autism spectrum disorder.
    Yan Y; Tian M; Li M; Zhou G; Chen Q; Xu M; Hu Y; Luo W; Guo X; Zhang C; Xie H; Wu QF; Xiong W; Liu S; Guan JS
    Neuron; 2022 Apr; 110(7):1156-1172.e9. PubMed ID: 35081333
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Exome sequencing analysis in a pair of monozygotic twins re-evaluates the genetics behind their intellectual disability and reveals a CHD2 mutation.
    Pinto AM; Bianciardi L; Mencarelli MA; Imperatore V; Di Marco C; Furini S; Suppiej A; Salviati L; Tenconi R; Ariani F; Mari F; Renieri A
    Brain Dev; 2016 Jun; 38(6):590-6. PubMed ID: 26754451
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Jumonji domain containing 1C (JMJD1C) sequence variants in seven patients with autism spectrum disorder, intellectual disability and seizures.
    Slavotinek A; van Hagen JM; Kalsner L; Pai S; Davis-Keppen L; Ohden L; Weber YG; Macke EL; Klee EW; Morava E; Gunderson L; Person R; Liu S; Weiss M
    Eur J Med Genet; 2020 Apr; 63(4):103850. PubMed ID: 31954878
    [TBL] [Abstract][Full Text] [Related]  

  • 19. De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures.
    Royer-Bertrand B; Jequier Gygax M; Cisarova K; Rosenfeld JA; Bassetti JA; Moldovan O; O'Heir E; Burrage LC; Allen J; Emrick LT; Eastman E; Kumps C; Abbas S; Van Winckel G; ; Chabane N; Zackai EH; Lebon S; Keena B; Bhoj EJ; Umair M; Li D; Donald KA; Superti-Furga A
    Mol Autism; 2021 Oct; 12(1):69. PubMed ID: 34702355
    [TBL] [Abstract][Full Text] [Related]  

  • 20. De novo truncating variant in NSD2gene leading to atypical Wolf-Hirschhorn syndrome phenotype.
    Jiang Y; Sun H; Lin Q; Wang Z; Wang G; Wang J; Jiang F; Yao R
    BMC Med Genet; 2019 Aug; 20(1):134. PubMed ID: 31382906
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.