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374 related items for PubMed ID: 23018576

  • 21. 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 01; 69(1):1-13. PubMed ID: 11013070
    [Abstract] [Full Text] [Related]

  • 22. 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 01; 34(3):174-7. PubMed ID: 23167938
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  • 23. FISH analysis in both classical and atypical cases of Williams-Beuren syndrome.
    Hou JW, Wang JK, Wang TR.
    Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi; 1998 Sep 01; 39(6):398-403. PubMed ID: 9926515
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  • 24. [Clinical aspects and genetics of Williams-Beuren syndrome. Clinical and molecular genetic study of 44 patients with suspected Williams-Beuren syndrome].
    von Beust G, Laccone FA, del Pilar Andrino M, Wessel A.
    Klin Padiatr; 2000 Sep 01; 212(6):299-307. PubMed ID: 11190824
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  • 25. Cloning, expression, and chromosomal mapping of the human 14-3-3gamma gene (YWHAG) to 7q11.23.
    Horie M, Suzuki M, Takahashi E, Tanigami A.
    Genomics; 1999 Sep 01; 60(2):241-3. PubMed ID: 10486217
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  • 26. Williams-Beuren syndrome in Mexican patients confirmed by FISH and assessed by aCGH.
    Ramírez-Velazco A, Aguayo-Orozco TA, Figuera L, Rivera H, Jave-Suárez L, Aguilar-Lemarroy A, Torres-Reyes LA, Córdova-Fletes C, Barros-Núñez P, Delgadillo-Pérez S, Dávalos-Rodríguez IP, García-Ortiz JE, Domínguez MG.
    J Genet; 2019 Jun 01; 98(2):. PubMed ID: 31204697
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  • 27. Genotype-phenotype correlation and the size of microdeletion or microduplication of 7q11.23 region in patients with Williams-Beuren syndrome.
    Ghaffari M, Tahmasebi Birgani M, Kariminejad R, Saberi A.
    Ann Hum Genet; 2018 Nov 01; 82(6):469-476. PubMed ID: 30155880
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  • 28. Identification of additional transcripts in the Williams-Beuren syndrome critical region.
    Merla G, Ucla C, Guipponi M, Reymond A.
    Hum Genet; 2002 May 01; 110(5):429-38. PubMed ID: 12073013
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  • 29. Williams-Beuren syndrome: genes and mechanisms.
    Francke U.
    Hum Mol Genet; 1999 May 01; 8(10):1947-54. PubMed ID: 10469848
    [Abstract] [Full Text] [Related]

  • 30. Williams-Beuren syndrome with brain malformation and hypertrophic cardiomyopathy.
    Okamoto N, Yamagata T, Yada Y, Ichihashi K, Matsumoto N, Momoi MY, Mizuguchi T.
    Brain Dev; 2014 Jun 01; 36(6):523-7. PubMed ID: 23899771
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  • 32. Arterial hypertension in a child with Williams-Beuren syndrome (7q11.23 chromosomal deletion).
    Sylos Cd, Pereira AC, Azeka E, Miura N, Mesquita SM, Ebaid M.
    Arq Bras Cardiol; 2002 Aug 01; 79(2):173-80. PubMed ID: 12219191
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  • 36. 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 15; 57(2):279-84. PubMed ID: 10198167
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  • 38. [Genetic analysis of a child with atypical Williams-Beuren syndrome presenting as supravalvular aortic stenosis].
    Wu D, Zhang M, Gao Y, Huo X, Xiao H, Zhang Q, Kang B, Wang X, Liao S.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Apr 10; 37(4):475-478. PubMed ID: 32219841
    [Abstract] [Full Text] [Related]

  • 39. Williams-Beuren syndrome in pediatric T-cell acute lymphoblastic leukemia: A rare case report and review of literature.
    Yang R, Ai Y, Bai T, Lu XX, He G.
    Medicine (Baltimore); 2024 Feb 16; 103(7):e36976. PubMed ID: 38363891
    [Abstract] [Full Text] [Related]

  • 40. 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 16; 14(2):209-14. PubMed ID: 20136526
    [Abstract] [Full Text] [Related]

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