BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

313 related articles for article (PubMed ID: 10631136)

  • 1. A physical map, including a BAC/PAC clone contig, of the Williams-Beuren syndrome--deletion region at 7q11.23.
    Peoples R; Franke Y; Wang YK; Pérez-Jurado L; Paperna T; Cisco M; Francke U
    Am J Hum Genet; 2000 Jan; 66(1):47-68. PubMed ID: 10631136
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 4. Comparative mapping of the region of human chromosome 7 deleted in williams syndrome.
    DeSilva U; Massa H; Trask BJ; Green ED
    Genome Res; 1999 May; 9(5):428-36. PubMed ID: 10330122
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Characterization of two novel genes, WBSCR20 and WBSCR22, deleted in Williams-Beuren syndrome.
    Doll A; Grzeschik KH
    Cytogenet Cell Genet; 2001; 95(1-2):20-7. PubMed ID: 11978965
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Delineation of 7q11.2 deletions associated with Williams-Beuren syndrome and mapping of a repetitive sequence to within and to either side of the common deletion.
    Robinson WP; Waslynka J; Bernasconi F; Wang M; Clark S; Kotzot D; Schinzel A
    Genomics; 1996 May; 34(1):17-23. PubMed ID: 8661020
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Mutational mechanisms of Williams-Beuren syndrome deletions.
    Bayés M; Magano LF; Rivera N; Flores R; Pérez Jurado LA
    Am J Hum Genet; 2003 Jul; 73(1):131-51. PubMed ID: 12796854
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Identification of additional transcripts in the Williams-Beuren syndrome critical region.
    Merla G; Ucla C; Guipponi M; Reymond A
    Hum Genet; 2002 May; 110(5):429-38. PubMed ID: 12073013
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Williams-Beuren syndrome: genes and mechanisms.
    Francke U
    Hum Mol Genet; 1999; 8(10):1947-54. PubMed ID: 10469848
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A complete physical contig and partial transcript map of the Williams syndrome critical region.
    Hockenhull EL; Carette MJ; Metcalfe K; Donnai D; Read AP; Tassabehji M
    Genomics; 1999 Jun; 58(2):138-45. PubMed ID: 10366445
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Epilepsy is a possible feature in Williams-Beuren syndrome patients harboring typical deletions of the 7q11.23 critical region.
    Nicita F; Garone G; Spalice A; Savasta S; Striano P; Pantaleoni C; Spartà MV; Kluger G; Capovilla G; Pruna D; Freri E; D'Arrigo S; Verrotti A
    Am J Med Genet A; 2016 Jan; 170A(1):148-55. PubMed ID: 26437767
    [TBL] [Abstract][Full Text] [Related]  

  • 12. WBSCR14, a putative transcription factor gene deleted in Williams-Beuren syndrome: complete characterisation of the human gene and the mouse ortholog.
    de Luis O; Valero MC; Jurado LA
    Eur J Hum Genet; 2000 Mar; 8(3):215-22. PubMed ID: 10780788
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A mouse single-copy gene, Gtf2i, the homolog of human GTF2I, that is duplicated in the Williams-Beuren syndrome deletion region.
    Wang YK; Pérez-Jurado LA; Francke U
    Genomics; 1998 Mar; 48(2):163-70. PubMed ID: 9521869
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Identification of a putative transcription factor gene (WBSCR11) that is commonly deleted in Williams-Beuren syndrome.
    Osborne LR; Campbell T; Daradich A; Scherer SW; Tsui LC
    Genomics; 1999 Apr; 57(2):279-84. PubMed ID: 10198167
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. Williams-Beuren syndrome: determination of deletion size using quantitative real-time PCR.
    Schubert C; Laccone F
    Int J Mol Med; 2006 Nov; 18(5):799-806. PubMed ID: 17016608
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits.
    Fusco C; Micale L; Augello B; Teresa Pellico M; Menghini D; Alfieri P; Cristina Digilio M; Mandriani B; Carella M; Palumbo O; Vicari S; Merla G
    Eur J Hum Genet; 2014 Jan; 22(1):64-70. PubMed ID: 23756441
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Atypical 7q11.23 deletions excluding ELN gene result in Williams-Beuren syndrome craniofacial features and neurocognitive profile.
    Alesi V; Loddo S; Orlando V; Genovese S; Di Tommaso S; Liambo MT; Pompili D; Ferretti D; Calacci C; Catino G; Falasca R; Dentici ML; Novelli A; Digilio MC; Dallapiccola B
    Am J Med Genet A; 2021 Jan; 185(1):242-249. PubMed ID: 33098373
    [TBL] [Abstract][Full Text] [Related]  

  • 19. TBL2, a novel transducin family member in the WBS deletion: characterization of the complete sequence, genomic structure, transcriptional variants and the mouse ortholog.
    Pérez Jurado LA; Wang YK; Francke U; Cruces J
    Cytogenet Cell Genet; 1999; 86(3-4):277-84. PubMed ID: 10575226
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 16.