BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

127 related articles for article (PubMed ID: 9915950)

  • 1. Williams syndrome: use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotypes.
    Tassabehji M; Metcalfe K; Karmiloff-Smith A; Carette MJ; Grant J; Dennis N; Reardon W; Splitt M; Read AP; Donnai D
    Am J Hum Genet; 1999 Jan; 64(1):118-25. PubMed ID: 9915950
    [TBL] [Abstract][Full Text] [Related]  

  • 2. The neurobiology of Williams syndrome: cascading influences of visual system impairment?
    Eckert MA; Galaburda AM; Mills DL; Bellugi U; Korenberg JR; Reiss AL
    Cell Mol Life Sci; 2006 Aug; 63(16):1867-75. PubMed ID: 16810457
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Visuospatial construction.
    Mervis CB; Robinson BF; Pani JR
    Am J Hum Genet; 1999 Nov; 65(5):1222-9. PubMed ID: 10521286
    [No Abstract]   [Full Text] [Related]  

  • 4. Syntaxin1A overexpression and pain insensitivity in individuals with 7q11.23 duplication syndrome.
    Iadarola MJ; Sapio MR; Loydpierson AJ; Mervis CB; Fehrenbacher JC; Vasko MR; Maric D; Eisenberg DP; Nash TA; Kippenhan JS; Garvey MH; Mannes AJ; Gregory MD; Berman KF
    JCI Insight; 2024 Feb; 9(4):. PubMed ID: 38261410
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Social cognition in williams syndrome: genotype/phenotype insights from partial deletion patients.
    Karmiloff-Smith A; Broadbent H; Farran EK; Longhi E; D'Souza D; Metcalfe K; Tassabehji M; Wu R; Senju A; Happé F; Turnpenny P; Sansbury F
    Front Psychol; 2012; 3():168. PubMed ID: 22661963
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Modeling Williams syndrome with induced pluripotent stem cells.
    Chailangkarn T; Muotri AR
    Neurogenesis (Austin); 2017; 4(1):e1283187. PubMed ID: 28229087
    [TBL] [Abstract][Full Text] [Related]  

  • 7. The Drosophila agnostic Locus: Involvement in the Formation of Cognitive Defects in Williams Syndrome.
    Nikitina EA; Medvedeva AV; Zakharov GA; Savvateeva-Popova EV
    Acta Naturae; 2014 Apr; 6(2):53-61. PubMed ID: 25093112
    [TBL] [Abstract][Full Text] [Related]  

  • 8. DNA methylation profiles in individuals with rare, atypical 7q11.23 CNVs correlate with GTF2I and GTF2IRD1 copy number.
    Strong E; Mervis CB; Tam E; Morris CA; Klein-Tasman BP; Velleman SL; Osborne LR
    NPJ Genom Med; 2023 Sep; 8(1):25. PubMed ID: 37709781
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Fluorescence in situ hybridization (FISH) as an irreplaceable diagnostic tool for Williams-Beuren syndrome in developing countries: a literature review.
    Carlotto BS; Deconte D; Diniz BL; Silva PRD; Zen PRG; Silva AAD
    Rev Paul Pediatr; 2023; 42():e2022125. PubMed ID: 37436242
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Neuropsychological Genotype-Phenotype in Patients with Williams Syndrome with Atypical Deletions: A Systematic Review.
    Serrano-Juárez CA; Prieto-Corona B; Rodríguez-Camacho M; Sandoval-Lira L; Villalva-Sánchez ÁF; Yáñez-Téllez MG; López MFR
    Neuropsychol Rev; 2023 Dec; 33(4):891-911. PubMed ID: 36520254
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Novel ophthalmic findings and deep phenotyping in Williams-Beuren syndrome.
    Huryn LA; Flaherty T; Nolen R; Prasov L; Zein WM; Cukras CA; Osgood S; Raja N; Levin MD; Vitale S; Brooks BP; Hufnagel RB; Kozel BA
    Br J Ophthalmol; 2023 Oct; 107(10):1554-1559. PubMed ID: 35760456
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Atypical deletion of Williams-Beuren syndrome reveals the mechanism of neurodevelopmental disorders.
    Zhou J; Zheng Y; Liang G; Xu X; Liu J; Chen S; Ge T; Wen P; Zhang Y; Liu X; Zhuang J; Wu Y; Chen J
    BMC Med Genomics; 2022 Apr; 15(1):79. PubMed ID: 35379245
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Identification and characterization of a novel ELN mutation in congenital heart disease with pulmonary artery stenosis.
    Hou C; Zheng J; Liu W; Xie L; Sun X; Zhang Y; Xu M; Li Y; Xiao T
    Sci Rep; 2021 Jul; 11(1):14154. PubMed ID: 34238994
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Williams syndrome.
    Kozel BA; Barak B; Kim CA; Mervis CB; Osborne LR; Porter M; Pober BR
    Nat Rev Dis Primers; 2021 Jun; 7(1):42. PubMed ID: 34140529
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Gtf2i and Gtf2ird1 mutation do not account for the full phenotypic effect of the Williams syndrome critical region in mouse models.
    Kopp N; McCullough K; Maloney SE; Dougherty JD
    Hum Mol Genet; 2019 Oct; 28(20):3443-3465. PubMed ID: 31418010
    [TBL] [Abstract][Full Text] [Related]  

  • 16.
    Savvateeva-Popova EV; Zhuravlev AV; Brázda V; Zakharov GA; Kaminskaya AN; Medvedeva AV; Nikitina EA; Tokmatcheva EV; Dolgaya JF; Kulikova DA; Zatsepina OG; Funikov SY; Ryazansky SS; Evgen'ev MB
    Front Genet; 2017; 8():123. PubMed ID: 28979292
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Genome wide array-CGH and qPCR analysis for the identification of genome defects in Williams' syndrome patients in Saudi Arabia.
    Hussein IR; Magbooli A; Huwait E; Chaudhary A; Bader R; Gari M; Ashgan F; Alquaiti M; Abuzenadah A; AlQahtani M
    Mol Cytogenet; 2016; 9():65. PubMed ID: 27525043
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Mapping genetically controlled neural circuits of social behavior and visuo-motor integration by a preliminary examination of atypical deletions with Williams syndrome.
    Hoeft F; Dai L; Haas BW; Sheau K; Mimura M; Mills D; Galaburda A; Bellugi U; Korenberg JR; Reiss AL
    PLoS One; 2014; 9(8):e104088. PubMed ID: 25105779
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Genetic contributions to visuospatial cognition in Williams syndrome: insights from two contrasting partial deletion patients.
    Broadbent H; Farran EK; Chin E; Metcalfe K; Tassabehji M; Turnpenny P; Sansbury F; Meaburn E; Karmiloff-Smith A
    J Neurodev Disord; 2014; 6(1):18. PubMed ID: 25057328
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Williams syndrome as a model for elucidation of the pathway genes - the brain - cognitive functions: genetics and epigenetics.
    Nikitina EA; Medvedeva AV; Zakharov GA; Savvateeva-Popova EV
    Acta Naturae; 2014 Jan; 6(1):9-22. PubMed ID: 24772323
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.