These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

228 related articles for article (PubMed ID: 27022327)

  • 41. 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]  

  • 42. 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]  

  • 43. A Novel Recurrent Breakpoint Responsible for Rearrangements in the Williams-Beuren Region.
    Plaja A; Castells N; Cueto-González AM; del Campo M; Vendrell T; Lloveras E; Izquierdo L; Borregan M; Rodríguez-Santiago B; Carrió A; Miró R; Tizzano E
    Cytogenet Genome Res; 2015; 146(3):181-6. PubMed ID: 26382598
    [TBL] [Abstract][Full Text] [Related]  

  • 44. 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]  

  • 45. 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]  

  • 46. Characterization of the Prenatal Ultrasound Phenotype Associated With 7q11.23 Microduplication Syndrome and Williams-Beuren Syndrome.
    Wang F; Peng H; Lou G; Ren Y; Liao S
    Prenat Diagn; 2024 Oct; 44(11):1398-1411. PubMed ID: 39304981
    [TBL] [Abstract][Full Text] [Related]  

  • 47. No significantly increased frequency of the inversion polymorphism at the WBS-critical region 7q11.23 in German parents of patients with Williams-Beuren syndrome as compared to a population control.
    Frohnauer J; Caliebe A; Gesk S; Partsch CJ; Siebert R; Pankau R; Jenderny J
    Mol Cytogenet; 2010 Nov; 3():21. PubMed ID: 21054846
    [TBL] [Abstract][Full Text] [Related]  

  • 48. A novel dNTP-limited PCR and HRM assay to detect Williams-Beuren syndrome.
    Zhang L; Zhang X; You G; Yu Y; Fu Q
    Clin Chim Acta; 2018 Jun; 481():171-176. PubMed ID: 29550276
    [TBL] [Abstract][Full Text] [Related]  

  • 49. The 7q11.23 Microduplication Syndrome: A Clinical Report with Review of Literature.
    Abbas E; Cox DM; Smith T; Butler MG
    J Pediatr Genet; 2016 Sep; 5(3):129-40. PubMed ID: 27617154
    [TBL] [Abstract][Full Text] [Related]  

  • 50. The elastin gene is disrupted in a family with a balanced translocation t(7;16)(q11.23;q13) associated with a variable expression of the Williams-Beuren syndrome.
    Duba HC; Doll A; Neyer M; Erdel M; Mann C; Hammerer I; Utermann G; Grzeschik KH
    Eur J Hum Genet; 2002 Jun; 10(6):351-61. PubMed ID: 12080386
    [TBL] [Abstract][Full Text] [Related]  

  • 51. 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]  

  • 52. Williams-Beuren syndrome: diagnosis by polymorphic markers.
    Sbruzzi IC; Pereira AC; Vasconcelos B; Honjo RS; Krieger JE; Kim CA
    Genet Test Mol Biomarkers; 2010 Apr; 14(2):209-14. PubMed ID: 20136526
    [TBL] [Abstract][Full Text] [Related]  

  • 53. Williams-Beuren syndrome: phenotypic variability and deletions of chromosomes 7, 11, and 22 in a series of 52 patients.
    Joyce CA; Zorich B; Pike SJ; Barber JC; Dennis NR
    J Med Genet; 1996 Dec; 33(12):986-92. PubMed ID: 9004128
    [TBL] [Abstract][Full Text] [Related]  

  • 54. A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome.
    Osborne LR; Li M; Pober B; Chitayat D; Bodurtha J; Mandel A; Costa T; Grebe T; Cox S; Tsui LC; Scherer SW
    Nat Genet; 2001 Nov; 29(3):321-5. PubMed ID: 11685205
    [TBL] [Abstract][Full Text] [Related]  

  • 55. Copy number variation in Williams-Beuren syndrome: suitable diagnostic strategy for developing countries.
    Dutra RL; Honjo RS; Kulikowski LD; Fonseca FM; Pieri PC; Jehee FS; Bertola DR; Kim CA
    BMC Res Notes; 2012 Jan; 5():13. PubMed ID: 22226172
    [TBL] [Abstract][Full Text] [Related]  

  • 56. Familial 7q11.23 duplication with variable phenotype.
    Patil SJ; Salian S; Bhat V; Girisha KM; Shrivastava Y; Vs K; Sapare A
    Am J Med Genet A; 2015 Nov; 167A(11):2727-30. PubMed ID: 26109321
    [TBL] [Abstract][Full Text] [Related]  

  • 57. 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]  

  • 58. Severe expressive-language delay related to duplication of the Williams-Beuren locus.
    Somerville MJ; Mervis CB; Young EJ; Seo EJ; del Campo M; Bamforth S; Peregrine E; Loo W; Lilley M; Pérez-Jurado LA; Morris CA; Scherer SW; Osborne LR
    N Engl J Med; 2005 Oct; 353(16):1694-701. PubMed ID: 16236740
    [TBL] [Abstract][Full Text] [Related]  

  • 59. [Genetic diagnosis and noninvasive prenatal testing of a family with Williams-Beuren syndrome].
    Zhao Y; Pang H; Feng X; Xiang Y; Gao M; Hua J; Tong D; Wu L; Sun H
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Mar; 36(3):263-266. PubMed ID: 30835361
    [TBL] [Abstract][Full Text] [Related]  

  • 60. Williams-Beuren syndrome in diverse populations.
    Kruszka P; Porras AR; de Souza DH; Moresco A; Huckstadt V; Gill AD; Boyle AP; Hu T; Addissie YA; Mok GTK; Tekendo-Ngongang C; Fieggen K; Prijoles EJ; Tanpaiboon P; Honey E; Luk HM; Lo IFM; Thong MK; Muthukumarasamy P; Jones KL; Belhassan K; Ouldim K; El Bouchikhi I; Bouguenouch L; Shukla A; Girisha KM; Sirisena ND; Dissanayake VHW; Paththinige CS; Mishra R; Kisling MS; Ferreira CR; de Herreros MB; Lee NC; Jamuar SS; Lai A; Tan ES; Ying Lim J; Wen-Min CB; Gupta N; Lotz-Esquivel S; Badilla-Porras R; Hussen DF; El Ruby MO; Ashaat EA; Patil SJ; Dowsett L; Eaton A; Innes AM; Shotelersuk V; Badoe Ë; Wonkam A; Obregon MG; Chung BHY; Trubnykova M; La Serna J; Gallardo Jugo BE; Chávez Pastor M; Abarca Barriga HH; Megarbane A; Kozel BA; van Haelst MM; Stevenson RE; Summar M; Adeyemo AA; Morris CA; Moretti-Ferreira D; Linguraru MG; Muenke M
    Am J Med Genet A; 2018 May; 176(5):1128-1136. PubMed ID: 29681090
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 12.