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283 related items for PubMed ID: 25388916

  • 1. Constitutional and somatic deletions of the Williams-Beuren syndrome critical region in non-Hodgkin lymphoma.
    Guenat D, Quentin S, Rizzari C, Lundin C, Coliva T, Edery P, Fryssira H, Bermont L, Ferrand C, Soulier J, Borg C, Rohrlich PS.
    J Hematol Oncol; 2014 Nov 07; 7():82. PubMed ID: 25388916
    [Abstract] [Full Text] [Related]

  • 2. Williams-Beuren Syndrome and Burkitt Leukemia.
    Zhukova N, Naqvi A.
    J Pediatr Hematol Oncol; 2013 Jan 07; 35(1):e30-2. PubMed ID: 23018576
    [Abstract] [Full Text] [Related]

  • 3. Rare genomic rearrangement in a boy with Williams-Beuren syndrome associated to XYY syndrome and intriguing behavior.
    Dutra RL, Piazzon FB, Zanardo ÉA, Costa TV, Montenegro MM, Novo-Filho GM, Dias AT, Nascimento AM, Kim CA, Kulikowski LD.
    Am J Med Genet A; 2015 Dec 07; 167A(12):3197-203. PubMed ID: 26420477
    [Abstract] [Full Text] [Related]

  • 4. 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 07; 170A(1):148-55. PubMed ID: 26437767
    [Abstract] [Full Text] [Related]

  • 5. 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]

  • 6. Observation of a parental inversion variant in a rare Williams-Beuren syndrome family with two affected children.
    Scherer SW, Gripp KW, Lucena J, Nicholson L, Bonnefont JP, Pérez-Jurado LA, Osborne LR.
    Hum Genet; 2005 Aug 01; 117(4):383-8. PubMed ID: 15933846
    [Abstract] [Full Text] [Related]

  • 7. 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 01; 22(1):64-70. PubMed ID: 23756441
    [Abstract] [Full Text] [Related]

  • 8. 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
    [Abstract] [Full Text] [Related]

  • 9. Social, neurodevelopmental, endocrine, and head size differences associated with atypical deletions in Williams-Beuren syndrome.
    Lugo M, Wong ZC, Billington CJ, Parrish PCR, Muldoon G, Liu D, Pober BR, Kozel BA.
    Am J Med Genet A; 2020 May 01; 182(5):1008-1020. PubMed ID: 32077592
    [Abstract] [Full Text] [Related]

  • 10. 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
    [Abstract] [Full Text] [Related]

  • 11. [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]

  • 12. Non-Hodgkin lymphoma in a child with Williams syndrome.
    Amenta S, Moschovi M, Sofocleous C, Kostaridou S, Mavrou A, Fryssira H.
    Cancer Genet Cytogenet; 2004 Oct 01; 154(1):86-8. PubMed ID: 15381380
    [Abstract] [Full Text] [Related]

  • 13. 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 01; 185(1):242-249. PubMed ID: 33098373
    [Abstract] [Full Text] [Related]

  • 14. Williams-Beuren syndrome: genes and mechanisms.
    Francke U.
    Hum Mol Genet; 1999 Jan 01; 8(10):1947-54. PubMed ID: 10469848
    [Abstract] [Full Text] [Related]

  • 15. Williams-Beuren syndrome: determination of deletion size using quantitative real-time PCR.
    Schubert C, Laccone F.
    Int J Mol Med; 2006 Nov 01; 18(5):799-806. PubMed ID: 17016608
    [Abstract] [Full Text] [Related]

  • 16. 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
    [Abstract] [Full Text] [Related]

  • 17. 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; 12(10):. PubMed ID: 34680999
    [Abstract] [Full Text] [Related]

  • 18. A new diagnosis of Williams-Beuren syndrome in a 49-year-old man with severe bullous emphysema.
    Wojcik MH, Carmichael N, Bieber FR, Wiener DC, Madan R, Pober BR, Raby BA.
    Am J Med Genet A; 2017 Aug 12; 173(8):2235-2239. PubMed ID: 28574231
    [Abstract] [Full Text] [Related]

  • 19. Familial Williams-Beuren syndrome.
    Ounap K, Laidre P, Bartsch O, Rein R, Lipping-Sitska M.
    Am J Med Genet; 1998 Dec 28; 80(5):491-3. PubMed ID: 9880214
    [Abstract] [Full Text] [Related]

  • 20. 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
    [Abstract] [Full Text] [Related]

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