BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

205 related articles for article (PubMed ID: 24834135)

  • 1. CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems.
    Chénier S; Yoon G; Argiropoulos B; Lauzon J; Laframboise R; Ahn JW; Ogilvie CM; Lionel AC; Marshall CR; Vaags AK; Hashemi B; Boisvert K; Mathonnet G; Tihy F; So J; Scherer SW; Lemyre E; Stavropoulos DJ
    J Neurodev Disord; 2014; 6(1):9. PubMed ID: 24834135
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Chromatin Remodeling Proteins in Epilepsy: Lessons From
    Lamar KJ; Carvill GL
    Front Mol Neurosci; 2018; 11():208. PubMed ID: 29962935
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A novel de novo frameshift variant in the CHD2 gene related to intellectual and developmental disability, seizures and speech problems.
    Mir A; Song Y; Lee H; Nadeali Z; Tabatabaiefar MA
    Mol Genet Genomic Med; 2024 Jan; 12(1):e2305. PubMed ID: 37877434
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Expanding the genetic and phenotypic spectrum of CHD2-related disease: From early neurodevelopmental disorders to adult-onset epilepsy.
    De Maria B; Balestrini S; Mei D; Melani F; Pellacani S; Pisano T; Rosati A; Scaturro GM; Giordano L; Cantalupo G; Fontana E; Zammarchi C; Said E; Leuzzi V; Mastrangelo M; Galosi S; Parrini E; Guerrini R
    Am J Med Genet A; 2022 Feb; 188(2):522-533. PubMed ID: 34713950
    [TBL] [Abstract][Full Text] [Related]  

  • 5. CHD2-Related CNS Pathologies.
    Wilson MM; Henshall DC; Byrne SM; Brennan GP
    Int J Mol Sci; 2021 Jan; 22(2):. PubMed ID: 33435571
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Autism-linked CHD gene expression patterns during development predict multi-organ disease phenotypes.
    Kasah S; Oddy C; Basson MA
    J Anat; 2018 Dec; 233(6):755-769. PubMed ID: 30277262
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Clinical analysis of
    Feng W; Fang F; Wang X; Chen C; Lu J; Deng J
    Pediatr Investig; 2022 Jun; 6(2):93-99. PubMed ID: 35774528
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Clinical Study of 8 Cases of
    Luo X; Sun X; Wang Y; Lin L; Yuan F; Wang S; Zhang W; Ji X; Liu M; Wu S; Lan X; Zhang J; Yan J; Zeng F; Chen Y
    Front Cell Dev Biol; 2022; 10():853127. PubMed ID: 35386198
    [No Abstract]   [Full Text] [Related]  

  • 9. Novel Loss-of-Function Variants in
    Wang X; Cui D; Ding C; Chen C; Wang X; Fang F; Jin H; Ren X
    Genes (Basel); 2022 May; 13(5):. PubMed ID: 35627293
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. 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]  

  • 12. Disruption of chromodomain helicase DNA binding protein 2 (CHD2) causes scoliosis.
    Kulkarni S; Nagarajan P; Wall J; Donovan DJ; Donell RL; Ligon AH; Venkatachalam S; Quade BJ
    Am J Med Genet A; 2008 May; 146A(9):1117-27. PubMed ID: 18386809
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Low-grade parental gonosomal mosaicism in CHD2 siblings with Smith-Magenis-like syndrome.
    Cogliati F; Straniero L; Rimoldi V; Masciadri M; Perego S; Rinaldi B; Milani D; Gentilini D; Larizza L; Asselta R; Russo S; Bedeschi MF
    Am J Med Genet B Neuropsychiatr Genet; 2024 Feb; ():e32976. PubMed ID: 38385826
    [TBL] [Abstract][Full Text] [Related]  

  • 14. The first reported case of an inherited pathogenic CHD2 variant in a clinically affected mother and daughter.
    Petersen AK; Streff H; Tokita M; Bostwick BL
    Am J Med Genet A; 2018 Jul; 176(7):1667-1669. PubMed ID: 29740950
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Absence epilepsy and the CHD2 gene: an adolescent male with moderate intellectual disability, short-lasting psychoses, and an interstitial deletion in 15q26.1-q26.2.
    Verhoeven WM; Egger JI; Knegt AC; Zuydam J; Kleefstra T
    Neuropsychiatr Dis Treat; 2016; 12():1135-9. PubMed ID: 27274247
    [TBL] [Abstract][Full Text] [Related]  

  • 16. CHD2 pathogenic nonsense variant in a three-generation family with variable phenotype and a paracentric inversion 16: Case report.
    Angelopoulou E; Theodosiou A; Papaevripidou I; Alexandrou A; Liehr T; Gyftodimou Y; Stefanou EG; Sismani C
    Heliyon; 2023 Dec; 9(12):e22987. PubMed ID: 38125503
    [TBL] [Abstract][Full Text] [Related]  

  • 17. BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder.
    Scott TM; Guo H; Eichler EE; Rosenfeld JA; Pang K; Liu Z; Lalani S; Bi W; Yang Y; Bacino CA; Streff H; Lewis AM; Koenig MK; Thiffault I; Bellomo A; Everman DB; Jones JR; Stevenson RE; Bernier R; Gilissen C; Pfundt R; Hiatt SM; Cooper GM; Holder JL; Scott DA
    Hum Mutat; 2020 May; 41(5):921-925. PubMed ID: 31999386
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Chd2 Is Necessary for Neural Circuit Development and Long-Term Memory.
    Kim YJ; Khoshkhoo S; Frankowski JC; Zhu B; Abbasi S; Lee S; Wu YE; Hunt RF
    Neuron; 2018 Dec; 100(5):1180-1193.e6. PubMed ID: 30344048
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A Novel Variant of the
    Zhu L; Peng F; Deng Z; Feng Z; Ma X
    Front Genet; 2022; 13():761178. PubMed ID: 35222528
    [TBL] [Abstract][Full Text] [Related]  

  • 20. CHD2-related epilepsy: novel mutations and new phenotypes.
    Chen J; Zhang J; Liu A; Zhang L; Li H; Zeng Q; Yang Z; Yang X; Wu X; Zhang Y
    Dev Med Child Neurol; 2020 May; 62(5):647-653. PubMed ID: 31677157
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.