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Journal Abstract Search

169 related items for PubMed ID: 12687671

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  • 2. 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; 173(8):2235-2239. PubMed ID: 28574231
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  • 3. 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
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  • 4. 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
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  • 5. 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
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  • 7. 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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  • 8. Assessment of clinical scoring systems for the diagnosis of Williams-Beuren syndrome.
    Leme DE, Souza DH, Mercado G, Pastene E, Dias A, Moretti-Ferreira D.
    Genet Mol Res; 2013 Sep 04; 12(3):3407-11. PubMed ID: 24065682
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  • 9. Williams-Beuren Syndrome and Burkitt Leukemia.
    Zhukova N, Naqvi A.
    J Pediatr Hematol Oncol; 2013 Jan 04; 35(1):e30-2. PubMed ID: 23018576
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  • 12. 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 04; 66(1):47-68. PubMed ID: 10631136
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  • 19. 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 Jan 04; 39(6):398-403. PubMed ID: 9926515
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  • 20. [Clinical and genetic characteristics of Williams-Beuren syndrome: 2 cases report].
    Wang SQ, Yang ZX, Li H.
    Beijing Da Xue Xue Bao Yi Xue Ban; 2017 Oct 18; 49(5):899-903. PubMed ID: 29045977
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