BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

130 related articles for article (PubMed ID: 36544206)

  • 1. Partial trisomy 21 with or without highly restricted Down syndrome critical region (HR-DSCR): report of two new cases and reanalysis of the genotype-phenotype association.
    Pelleri MC; Locatelli C; Mattina T; Bonaglia MC; Piazza F; Magini P; Antonaros F; Ramacieri G; Vione B; Vitale L; Seri M; Strippoli P; Cocchi G; Piovesan A; Caracausi M
    BMC Med Genomics; 2022 Dec; 15(1):266. PubMed ID: 36544206
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Partial trisomy 21 map: Ten cases further supporting the highly restricted Down syndrome critical region (HR-DSCR) on human chromosome 21.
    Pelleri MC; Cicchini E; Petersen MB; Tranebjaerg L; Mattina T; Magini P; Antonaros F; Caracausi M; Vitale L; Locatelli C; Seri M; Strippoli P; Piovesan A; Cocchi G
    Mol Genet Genomic Med; 2019 Aug; 7(8):e797. PubMed ID: 31237416
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Systematic reanalysis of partial trisomy 21 cases with or without Down syndrome suggests a small region on 21q22.13 as critical to the phenotype.
    Pelleri MC; Cicchini E; Locatelli C; Vitale L; Caracausi M; Piovesan A; Rocca A; Poletti G; Seri M; Strippoli P; Cocchi G
    Hum Mol Genet; 2016 Jun; 25(12):2525-2538. PubMed ID: 27106104
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Structural Characterization of the Highly Restricted Down Syndrome Critical Region on 21q22.13: New
    Antonaros F; Pitocco M; Abete D; Vione B; Piovesan A; Vitale L; Strippoli P; Caracausi M; Pelleri MC
    Front Genet; 2021; 12():770359. PubMed ID: 34956324
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Opposite phenotypes of muscle strength and locomotor function in mouse models of partial trisomy and monosomy 21 for the proximal Hspa13-App region.
    Brault V; Duchon A; Romestaing C; Sahun I; Pothion S; Karout M; Borel C; Dembele D; Bizot JC; Messaddeq N; Sharp AJ; Roussel D; Antonarakis SE; Dierssen M; Hérault Y
    PLoS Genet; 2015 Mar; 11(3):e1005062. PubMed ID: 25803843
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Differential effects of trisomy on brain shape and volume in related aneuploid mouse models.
    Aldridge K; Reeves RH; Olson LE; Richtsmeier JT
    Am J Med Genet A; 2007 May; 143A(10):1060-70. PubMed ID: 17431903
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Trisomy of Human Chromosome 21 Orthologs Mapping to Mouse Chromosome 10 Cause Age and Sex-Specific Learning Differences: Relevance to Down Syndrome.
    Minter R; Gardiner KJ
    Genes (Basel); 2021 Oct; 12(11):. PubMed ID: 34828303
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Genetics and Molecular Basis of Congenital Heart Defects in Down Syndrome: Role of Extracellular Matrix Regulation.
    Mollo N; Scognamiglio R; Conti A; Paladino S; Nitsch L; Izzo A
    Int J Mol Sci; 2023 Feb; 24(3):. PubMed ID: 36769235
    [TBL] [Abstract][Full Text] [Related]  

  • 9. The telomeric part of the human chromosome 21 from Cstb to Prmt2 is not necessary for the locomotor and short-term memory deficits observed in the Tc1 mouse model of Down syndrome.
    Duchon A; Pothion S; Brault V; Sharp AJ; Tybulewicz VL; Fisher EM; Herault Y
    Behav Brain Res; 2011 Mar; 217(2):271-81. PubMed ID: 21047530
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A novel case of 16q22.3 duplication syndrome in a child with overgrowth: case report and literature review.
    Moschella A; Capra AP; Corica D; Pepe G; Di Tommaso S; Sallicandro E; Wasniewska MG; Briuglia S; Aversa T
    BMC Med Genomics; 2023 Dec; 16(1):315. PubMed ID: 38049856
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Trisomy-21 gene dosage over-expression of miRNAs results in the haploinsufficiency of specific target proteins.
    Elton TS; Sansom SE; Martin MM
    RNA Biol; 2010; 7(5):540-7. PubMed ID: 21081842
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Generation of two induced pluripotent stem cell lines from patients with Down syndrome.
    Zhu W; Liu W; Yu R; Manning M; Waran Romfh A; Wu JC
    Stem Cell Res; 2023 Oct; 72():103204. PubMed ID: 37734318
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Meta-analysis of transcriptomic data reveals clusters of consistently deregulated gene and disease ontologies in Down syndrome.
    De Toma I; Sierra C; Dierssen M
    PLoS Comput Biol; 2021 Sep; 17(9):e1009317. PubMed ID: 34570756
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Ts66Yah, a mouse model of Down syndrome with improved construct and face validity.
    Duchon A; Del Mar Muñiz Moreno M; Chevalier C; Nalesso V; Andre P; Fructuoso-Castellar M; Mondino M; Po C; Noblet V; Birling MC; Potier MC; Herault Y
    Dis Model Mech; 2022 Dec; 15(12):. PubMed ID: 36374158
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Understanding the genetic mechanisms and cognitive impairments in Down syndrome: towards a holistic approach.
    Abukhaled Y; Hatab K; Awadhalla M; Hamdan H
    J Neurol; 2024 Jan; 271(1):87-104. PubMed ID: 37561187
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Chr21 protein-protein interactions: enrichment in proteins involved in intellectual disability, autism, and late-onset Alzheimer's disease.
    Viard J; Loe-Mie Y; Daudin R; Khelfaoui M; Plancon C; Boland A; Tejedor F; Huganir RL; Kim E; Kinoshita M; Liu G; Haucke V; Moncion T; Yu E; Hindie V; Bléhaut H; Mircher C; Herault Y; Deleuze JF; Rain JC; Simonneau M; Lepagnol-Bestel AM
    Life Sci Alliance; 2022 Aug; 5(12):. PubMed ID: 35914814
    [TBL] [Abstract][Full Text] [Related]  

  • 17. RUNX1 isoform disequilibrium promotes the development of trisomy 21-associated myeloid leukemia.
    Gialesaki S; Bräuer-Hartmann D; Issa H; Bhayadia R; Alejo-Valle O; Verboon L; Schmell AL; Laszig S; Regényi E; Schuschel K; Labuhn M; Ng M; Winkler R; Ihling C; Sinz A; Glaß M; Hüttelmaier S; Matzk S; Schmid L; Strüwe FJ; Kadel SK; Reinhardt D; Yaspo ML; Heckl D; Klusmann JH
    Blood; 2023 Mar; 141(10):1105-1118. PubMed ID: 36493345
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Induced pluripotent stem cells as a cellular model for studying Down Syndrome.
    Brigida AL; Siniscalco D
    J Stem Cells Regen Med; 2016; 12(2):54-60. PubMed ID: 28096629
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Genetic dissection of triplicated chromosome 21 orthologs yields varying skeletal traits in Down syndrome model mice.
    Sloan K; Thomas J; Blackwell M; Voisard D; Lana-Elola E; Watson-Scales S; Roper DL; Wallace JM; Fisher EMC; Tybulewicz VLJ; Roper RJ
    Dis Model Mech; 2023 Apr; 16(4):. PubMed ID: 36939025
    [TBL] [Abstract][Full Text] [Related]  

  • 20. One-carbon pathway metabolites are altered in the plasma of subjects with Down syndrome: Relation to chromosomal dosage.
    Vione B; Ramacieri G; Zavaroni G; Piano A; La Rocca G; Caracausi M; Vitale L; Piovesan A; Gori C; Pirazzoli GL; Strippoli P; Cocchi G; Corvaglia L; Locatelli C; Pelleri MC; Antonaros F
    Front Med (Lausanne); 2022; 9():1006891. PubMed ID: 36530924
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.