BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

242 related articles for article (PubMed ID: 36152627)

  • 1. Innate frequency-discrimination hyperacuity in Williams-Beuren syndrome mice.
    Davenport CM; Teubner BJW; Han SB; Patton MH; Eom TY; Garic D; Lansdell BJ; Shirinifard A; Chang TC; Klein J; Pruett-Miller SM; Blundon JA; Zakharenko SS
    Cell; 2022 Oct; 185(21):3877-3895.e21. PubMed ID: 36152627
    [TBL] [Abstract][Full Text] [Related]  

  • 2. The role of GTF2IRD1 in the auditory pathology of Williams-Beuren Syndrome.
    Canales CP; Wong AC; Gunning PW; Housley GD; Hardeman EC; Palmer SJ
    Eur J Hum Genet; 2015 Jun; 23(6):774-80. PubMed ID: 25248400
    [TBL] [Abstract][Full Text] [Related]  

  • 3. RNA-Seq analysis of Gtf2ird1 knockout epidermal tissue provides potential insights into molecular mechanisms underpinning Williams-Beuren syndrome.
    Corley SM; Canales CP; Carmona-Mora P; Mendoza-Reinosa V; Beverdam A; Hardeman EC; Wilkins MR; Palmer SJ
    BMC Genomics; 2016 Jun; 17():450. PubMed ID: 27295951
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Negative autoregulation of GTF2IRD1 in Williams-Beuren syndrome via a novel DNA binding mechanism.
    Palmer SJ; Santucci N; Widagdo J; Bontempo SJ; Taylor KM; Tay ES; Hook J; Lemckert F; Gunning PW; Hardeman EC
    J Biol Chem; 2010 Feb; 285(7):4715-24. PubMed ID: 20007321
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Cannabinoid signaling modulation through JZL184 restores key phenotypes of a mouse model for Williams-Beuren syndrome.
    Navarro-Romero A; Galera-López L; Ortiz-Romero P; Llorente-Ovejero A; de Los Reyes-Ramírez L; Bengoetxea de Tena I; Garcia-Elias A; Mas-Stachurska A; Reixachs-Solé M; Pastor A; de la Torre R; Maldonado R; Benito B; Eyras E; Rodríguez-Puertas R; Campuzano V; Ozaita A
    Elife; 2022 Oct; 11():. PubMed ID: 36217821
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Anxious, hypoactive phenotype combined with motor deficits in Gtf2ird1 null mouse model relevant to Williams syndrome.
    Schneider T; Skitt Z; Liu Y; Deacon RM; Flint J; Karmiloff-Smith A; Rawlins JN; Tassabehji M
    Behav Brain Res; 2012 Aug; 233(2):458-73. PubMed ID: 22652393
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Mutation of Gtf2ird1 from the Williams-Beuren syndrome critical region results in facial dysplasia, motor dysfunction, and altered vocalisations.
    Howard ML; Palmer SJ; Taylor KM; Arthurson GJ; Spitzer MW; Du X; Pang TY; Renoir T; Hardeman EC; Hannan AJ
    Neurobiol Dis; 2012 Mar; 45(3):913-22. PubMed ID: 22198572
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A role for transcription factor GTF2IRD2 in executive function in Williams-Beuren syndrome.
    Porter MA; Dobson-Stone C; Kwok JB; Schofield PR; Beckett W; Tassabehji M
    PLoS One; 2012; 7(10):e47457. PubMed ID: 23118870
    [TBL] [Abstract][Full Text] [Related]  

  • 9. The contribution of CLIP2 haploinsufficiency to the clinical manifestations of the Williams-Beuren syndrome.
    Vandeweyer G; Van der Aa N; Reyniers E; Kooy RF
    Am J Hum Genet; 2012 Jun; 90(6):1071-8. PubMed ID: 22608712
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A new diagnosis of Williams-Beuren syndrome in a 49-year-old man with severe bullous emphysema.
    Wojcik MH; Carmichael N; Bieber FR; Wiener DC; Madan R; Pober BR; Raby BA
    Am J Med Genet A; 2017 Aug; 173(8):2235-2239. PubMed ID: 28574231
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Metabolic abnormalities in Williams-Beuren syndrome.
    Palacios-Verdú MG; Segura-Puimedon M; Borralleras C; Flores R; Del Campo M; Campuzano V; Pérez-Jurado LA
    J Med Genet; 2015 Apr; 52(4):248-55. PubMed ID: 25663682
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Partial 7q11.23 deletions further implicate GTF2I and GTF2IRD1 as the main genes responsible for the Williams-Beuren syndrome neurocognitive profile.
    Antonell A; Del Campo M; Magano LF; Kaufmann L; de la Iglesia JM; Gallastegui F; Flores R; Schweigmann U; Fauth C; Kotzot D; Pérez-Jurado LA
    J Med Genet; 2010 May; 47(5):312-20. PubMed ID: 19897463
    [TBL] [Abstract][Full Text] [Related]  

  • 13. An atypical 7q11.23 deletion in a normal IQ Williams-Beuren syndrome patient.
    Ferrero GB; Howald C; Micale L; Biamino E; Augello B; Fusco C; Turturo MG; Forzano S; Reymond A; Merla G
    Eur J Hum Genet; 2010 Jan; 18(1):33-8. PubMed ID: 19568270
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Correlations between behavior, memory, sleep-wake and melatonin in Williams-Beuren syndrome.
    Santoro SD; Giacheti CM; Rossi NF; Campos LM; Pinato L
    Physiol Behav; 2016 May; 159():14-9. PubMed ID: 26976740
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A transcriptomic study of Williams-Beuren syndrome associated genes in mouse embryonic stem cells.
    De Cegli R; Iacobacci S; Fedele A; Ballabio A; di Bernardo D
    Sci Data; 2019 Nov; 6(1):262. PubMed ID: 31695049
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Biallelic GTF2IRD1 variants in brothers with profound neurodevelopmental disorder: A possible novel disorder involving a critical gene for Williams syndrome.
    Cummings CT; Starr LJ
    Am J Med Genet A; 2023 Feb; 191(2):332-337. PubMed ID: 36308390
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Williams-Beuren syndrome: a challenge for genotype-phenotype correlations.
    Tassabehji M
    Hum Mol Genet; 2003 Oct; 12 Spec No 2():R229-37. PubMed ID: 12952863
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Autistic disorder in patients with Williams-Beuren syndrome: a reconsideration of the Williams-Beuren syndrome phenotype.
    Tordjman S; Anderson GM; Botbol M; Toutain A; Sarda P; Carlier M; Saugier-Veber P; Baumann C; Cohen D; Lagneaux C; Tabet AC; Verloes A
    PLoS One; 2012; 7(3):e30778. PubMed ID: 22412832
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Human induced pluripotent stem cell derived neurons as a model for Williams-Beuren syndrome.
    Khattak S; Brimble E; Zhang W; Zaslavsky K; Strong E; Ross PJ; Hendry J; Mital S; Salter MW; Osborne LR; Ellis J
    Mol Brain; 2015 Nov; 8(1):77. PubMed ID: 26603386
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Haploinsufficiency of Gtf2i, a gene deleted in Williams Syndrome, leads to increases in social interactions.
    Sakurai T; Dorr NP; Takahashi N; McInnes LA; Elder GA; Buxbaum JD
    Autism Res; 2011 Feb; 4(1):28-39. PubMed ID: 21328569
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.