BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

236 related articles for article (PubMed ID: 22048961)

  • 1. Association of GTF2i in the Williams-Beuren syndrome critical region with autism spectrum disorders.
    Malenfant P; Liu X; Hudson ML; Qiao Y; Hrynchak M; Riendeau N; Hildebrand MJ; Cohen IL; Chudley AE; Forster-Gibson C; Mickelson EC; Rajcan-Separovic E; Lewis ME; Holden JJ
    J Autism Dev Disord; 2012 Jul; 42(7):1459-69. PubMed ID: 22048961
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Consistent hypersocial behavior in mice carrying a deletion of
    Martin LA; Iceberg E; Allaf G
    Brain Behav; 2018 Jan; 8(1):e00895. PubMed ID: 29568691
    [TBL] [Abstract][Full Text] [Related]  

  • 3. High-throughput screening identifies histone deacetylase inhibitors that modulate GTF2I expression in 7q11.23 microduplication autism spectrum disorder patient-derived cortical neurons.
    Cavallo F; Troglio F; Fagà G; Fancelli D; Shyti R; Trattaro S; Zanella M; D'Agostino G; Hughes JM; Cera MR; Pasi M; Gabriele M; Lazzarin M; Mihailovich M; Kooy F; Rosa A; Mercurio C; Varasi M; Testa G
    Mol Autism; 2020 Nov; 11(1):88. PubMed ID: 33208191
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A small 7q11.23 microduplication involving GTF2I in a family with intellectual disability.
    Pinelli M; Terrone G; Troglio F; Squeo GM; Cappuccio G; Imperati F; Pignataro P; Genesio R; Nitch L; Del Giudice E; Merla G; Testa G; Brunetti-Pierri N
    Clin Genet; 2020 Jun; 97(6):940-942. PubMed ID: 32349160
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region.
    Berg JS; Brunetti-Pierri N; Peters SU; Kang SH; Fong CT; Salamone J; Freedenberg D; Hannig VL; Prock LA; Miller DT; Raffalli P; Harris DJ; Erickson RP; Cunniff C; Clark GD; Blazo MA; Peiffer DA; Gunderson KL; Sahoo T; Patel A; Lupski JR; Beaudet AL; Cheung SW
    Genet Med; 2007 Jul; 9(7):427-41. PubMed ID: 17666889
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Cognitive-behavioral phenotypes of Williams syndrome are associated with genetic variation in the GTF2I gene, in a healthy population.
    Crespi BJ; Hurd PL
    BMC Neurosci; 2014 Nov; 15():127. PubMed ID: 25429715
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Reciprocal duplication of the Williams-Beuren syndrome deletion on chromosome 7q11.23 is associated with schizophrenia.
    Mulle JG; Pulver AE; McGrath JA; Wolyniec PS; Dodd AF; Cutler DJ; Sebat J; Malhotra D; Nestadt G; Conrad DF; Hurles M; Barnes CP; Ikeda M; Iwata N; Levinson DF; Gejman PV; Sanders AR; Duan J; Mitchell AA; Peter I; Sklar P; O'Dushlaine CT; Grozeva D; O'Donovan MC; Owen MJ; Hultman CM; Kähler AK; Sullivan PF; ; Kirov G; Warren ST
    Biol Psychiatry; 2014 Mar; 75(5):371-7. PubMed ID: 23871472
    [TBL] [Abstract][Full Text] [Related]  

  • 9. GTF2IRD2 is located in the Williams-Beuren syndrome critical region 7q11.23 and encodes a protein with two TFII-I-like helix-loop-helix repeats.
    Makeyev AV; Erdenechimeg L; Mungunsukh O; Roth JJ; Enkhmandakh B; Ruddle FH; Bayarsaihan D
    Proc Natl Acad Sci U S A; 2004 Jul; 101(30):11052-7. PubMed ID: 15243160
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A duplicated gene in the breakpoint regions of the 7q11.23 Williams-Beuren syndrome deletion encodes the initiator binding protein TFII-I and BAP-135, a phosphorylation target of BTK.
    Pérez Jurado LA; Wang YK; Peoples R; Coloma A; Cruces J; Francke U
    Hum Mol Genet; 1998 Mar; 7(3):325-34. PubMed ID: 9466987
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
    Sanders SJ; Ercan-Sencicek AG; Hus V; Luo R; Murtha MT; Moreno-De-Luca D; Chu SH; Moreau MP; Gupta AR; Thomson SA; Mason CE; Bilguvar K; Celestino-Soper PB; Choi M; Crawford EL; Davis L; Wright NR; Dhodapkar RM; DiCola M; DiLullo NM; Fernandez TV; Fielding-Singh V; Fishman DO; Frahm S; Garagaloyan R; Goh GS; Kammela S; Klei L; Lowe JK; Lund SC; McGrew AD; Meyer KA; Moffat WJ; Murdoch JD; O'Roak BJ; Ober GT; Pottenger RS; Raubeson MJ; Song Y; Wang Q; Yaspan BL; Yu TW; Yurkiewicz IR; Beaudet AL; Cantor RM; Curland M; Grice DE; Günel M; Lifton RP; Mane SM; Martin DM; Shaw CA; Sheldon M; Tischfield JA; Walsh CA; Morrow EM; Ledbetter DH; Fombonne E; Lord C; Martin CL; Brooks AI; Sutcliffe JS; Cook EH; Geschwind D; Roeder K; Devlin B; State MW
    Neuron; 2011 Jun; 70(5):863-85. PubMed ID: 21658581
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Exome sequencing of 85 Williams-Beuren syndrome cases rules out coding variation as a major contributor to remaining variance in social behavior.
    Kopp ND; Parrish PCR; Lugo M; Dougherty JD; Kozel BA
    Mol Genet Genomic Med; 2018 Sep; 6(5):749-765. PubMed ID: 30008175
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Comparison of TFII-I gene family members deleted in Williams-Beuren syndrome.
    Hinsley TA; Cunliffe P; Tipney HJ; Brass A; Tassabehji M
    Protein Sci; 2004 Oct; 13(10):2588-99. PubMed ID: 15388857
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 2p15-p16.1 microdeletion syndrome: molecular characterization and association of the OTX1 and XPO1 genes with autism spectrum disorders.
    Liu X; Malenfant P; Reesor C; Lee A; Hudson ML; Harvard C; Qiao Y; Persico AM; Cohen IL; Chudley AE; Forster-Gibson C; Rajcan-Separovic E; Lewis ME; Holden JJ
    Eur J Hum Genet; 2011 Dec; 19(12):1264-70. PubMed ID: 21750575
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Dysmorphic features, simplified gyral pattern and 7q11.23 duplication reciprocal to the Williams-Beuren deletion.
    Torniero C; Dalla Bernardina B; Novara F; Cerini R; Bonaglia C; Pramparo T; Ciccone R; Guerrini R; Zuffardi O
    Eur J Hum Genet; 2008 Aug; 16(8):880-7. PubMed ID: 18337728
    [TBL] [Abstract][Full Text] [Related]  

  • 17. GTF2I hemizygosity implicated in mental retardation in Williams syndrome: genotype-phenotype analysis of five families with deletions in the Williams syndrome region.
    Morris CA; Mervis CB; Hobart HH; Gregg RG; Bertrand J; Ensing GJ; Sommer A; Moore CA; Hopkin RJ; Spallone PA; Keating MT; Osborne L; Kimberley KW; Stock AD
    Am J Med Genet A; 2003 Nov; 123A(1):45-59. PubMed ID: 14556246
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Autism Spectrum Disorders: Analysis of Mobile Elements at 7q11.23 Williams-Beuren Region by Comparative Genomics.
    Cupaioli FA; Fallerini C; Mencarelli MA; Perticaroli V; Filippini V; Mari F; Renieri A; Mezzelani A
    Genes (Basel); 2021 Oct; 12(10):. PubMed ID: 34680999
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Duplication of GTF2I results in separation anxiety in mice and humans.
    Mervis CB; Dida J; Lam E; Crawford-Zelli NA; Young EJ; Henderson DR; Onay T; Morris CA; Woodruff-Borden J; Yeomans J; Osborne LR
    Am J Hum Genet; 2012 Jun; 90(6):1064-70. PubMed ID: 22578324
    [TBL] [Abstract][Full Text] [Related]  

  • 20. An atypical deletion of the Williams-Beuren syndrome interval implicates genes associated with defective visuospatial processing and autism.
    Edelmann L; Prosnitz A; Pardo S; Bhatt J; Cohen N; Lauriat T; Ouchanov L; González PJ; Manghi ER; Bondy P; Esquivel M; Monge S; Delgado MF; Splendore A; Francke U; Burton BK; McInnes LA
    J Med Genet; 2007 Feb; 44(2):136-43. PubMed ID: 16971481
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.