BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

136 related articles for article (PubMed ID: 25627897)

  • 1. Using iPSCs and genomics to catch CNVs in the act.
    Urban AE; Purmann C
    Nat Genet; 2015 Feb; 47(2):100-1. PubMed ID: 25627897
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 7q11.23 dosage-dependent dysregulation in human pluripotent stem cells affects transcriptional programs in disease-relevant lineages.
    Adamo A; Atashpaz S; Germain PL; Zanella M; D'Agostino G; Albertin V; Chenoweth J; Micale L; Fusco C; Unger C; Augello B; Palumbo O; Hamilton B; Carella M; Donti E; Pruneri G; Selicorni A; Biamino E; Prontera P; McKay R; Merla G; Testa G
    Nat Genet; 2015 Feb; 47(2):132-41. PubMed ID: 25501393
    [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. Chromosomal Microarray Analysis in Taiwanese Patients with Williams-Beuren Syndrome.
    Kuo HT; Chen CH; Lin CY; Chang YS; Chang JG
    Cytogenet Genome Res; 2019; 159(4):182-189. PubMed ID: 31931504
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Isolation and characterisation of GTF2IRD2, a novel fusion gene and member of the TFII-I family of transcription factors, deleted in Williams-Beuren syndrome.
    Tipney HJ; Hinsley TA; Brass A; Metcalfe K; Donnai D; Tassabehji M
    Eur J Hum Genet; 2004 Jul; 12(7):551-60. PubMed ID: 15100712
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Copy number variation at the 7q11.23 segmental duplications is a susceptibility factor for the Williams-Beuren syndrome deletion.
    Cuscó I; Corominas R; Bayés M; Flores R; Rivera-Brugués N; Campuzano V; Pérez-Jurado LA
    Genome Res; 2008 May; 18(5):683-94. PubMed ID: 18292220
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. 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]  

  • 9. Williams-Beuren syndrome-associated transcription factor TFII-I regulates osteogenic marker genes.
    Lazebnik MB; Tussie-Luna MI; Hinds PW; Roy AL
    J Biol Chem; 2009 Dec; 284(52):36234-36239. PubMed ID: 19880526
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Copy number variants at Williams-Beuren syndrome 7q11.23 region.
    Merla G; Brunetti-Pierri N; Micale L; Fusco C
    Hum Genet; 2010 Jul; 128(1):3-26. PubMed ID: 20437059
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. 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]  

  • 13. 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]  

  • 14. 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]  

  • 15. Fine-scale comparative mapping of the human 7q11.23 region and the orthologous region on mouse chromosome 5G: the low-copy repeats that flank the Williams-Beuren syndrome deletion arose at breakpoint sites of an evolutionary inversion(s).
    Valero MC; de Luis O; Cruces J; Pérez Jurado LA
    Genomics; 2000 Oct; 69(1):1-13. PubMed ID: 11013070
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Familial Williams-Beuren syndrome.
    Ounap K; Laidre P; Bartsch O; Rein R; Lipping-Sitska M
    Am J Med Genet; 1998 Dec; 80(5):491-3. PubMed ID: 9880214
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A new case of keratoconus associated with Williams-Beuren syndrome.
    Viana MM; Frasson M; Leão LL; Stofanko M; Gonçalves-Dornelas H; Cunha Pda S; de Aguiar MJ
    Ophthalmic Genet; 2013 Sep; 34(3):174-7. PubMed ID: 23167938
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Williams-Beuren syndrome diagnosis using fluorescence in situ hybridization.
    Osborne LR; Joseph-George AM; Scherer SW
    Methods Mol Med; 2006; 126():113-28. PubMed ID: 16930009
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Williams-Beuren Syndrome and Burkitt Leukemia.
    Zhukova N; Naqvi A
    J Pediatr Hematol Oncol; 2013 Jan; 35(1):e30-2. PubMed ID: 23018576
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.