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Journal Abstract Search

307 related items for PubMed ID: 28574231

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. Pulmonary function and emphysema in Williams-Beuren syndrome.
    Wan ES, Pober BR, Washko GR, Raby BA, Silverman EK.
    Am J Med Genet A; 2010 Mar; 152A(3):653-6. PubMed ID: 20186780
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 4. 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
    [Abstract] [Full Text] [Related]

  • 5. Pulmonary function in Williams-Beuren syndrome: Spirometric data of 22 Italian patients.
    Pangallo E, Cianci P, Favuzza F, Milani D, Vimercati C, Moretti A, Picchi R, De Paoli A, Agosti M, Selicorni A.
    Am J Med Genet A; 2021 Feb 04; 185(2):390-396. PubMed ID: 33174385
    [Abstract] [Full Text] [Related]

  • 6. 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 04; 33(12):986-92. PubMed ID: 9004128
    [Abstract] [Full Text] [Related]

  • 7. [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 Dec 04; 212(6):299-307. PubMed ID: 11190824
    [Abstract] [Full Text] [Related]

  • 8. 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 04; 14(2):209-14. PubMed ID: 20136526
    [Abstract] [Full Text] [Related]

  • 9. 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 Apr 04; 39(6):398-403. PubMed ID: 9926515
    [Abstract] [Full Text] [Related]

  • 10. Williams-Beuren Syndrome and Burkitt Leukemia.
    Zhukova N, Naqvi A.
    J Pediatr Hematol Oncol; 2013 Jan 04; 35(1):e30-2. PubMed ID: 23018576
    [Abstract] [Full Text] [Related]

  • 11. Portal hypertension in Williams syndrome: report of two patients.
    Casanelles Mdel C, Gil-Fernández JJ, Casero LF, Bengoechea MG, Serrano R, Rañada JM, Jurado LA.
    Am J Med Genet A; 2003 May 01; 118A(4):372-6. PubMed ID: 12687671
    [Abstract] [Full Text] [Related]

  • 12. 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 01; 10(6):351-61. PubMed ID: 12080386
    [Abstract] [Full Text] [Related]

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  • 14. 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]

  • 15. Spectrum of elastin sequence variants and cardiovascular phenotypes in 49 patients with Williams-Beuren syndrome.
    Delio M, Pope K, Wang T, Samanich J, Haldeman-Englert CR, Kaplan P, Shaikh TH, Cai J, Marion RW, Morrow BE, Babcock M.
    Am J Med Genet A; 2013 Mar 28; 161A(3):527-33. PubMed ID: 23401415
    [Abstract] [Full Text] [Related]

  • 16. 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 28; 170A(1):148-55. PubMed ID: 26437767
    [Abstract] [Full Text] [Related]

  • 17. 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 28; 82(6):469-476. PubMed ID: 30155880
    [Abstract] [Full Text] [Related]

  • 18. Growth assessment in children with Williams-Beuren syndrome: a systematic review.
    de Sousa Lima Strafacci A, Fernandes Camargo J, Bertapelli F, Guerra Júnior G.
    J Appl Genet; 2020 May 28; 61(2):205-212. PubMed ID: 32157657
    [Abstract] [Full Text] [Related]

  • 19. Keratoconus associated with Williams-Beuren syndrome: first case reports.
    Pinsard L, Touboul D, Vu Y, Lacombe D, Leger F, Colin J.
    Ophthalmic Genet; 2010 Dec 28; 31(4):252-6. PubMed ID: 21067490
    [Abstract] [Full Text] [Related]

  • 20. [Detection of a Williams Beuren syndrome case by MLPA].
    Laurito S, Branham T, Herrero G, Marsa S, Garro F, Roqué M.
    Medicina (B Aires); 2013 Dec 28; 73(1):47-50. PubMed ID: 23335707
    [Abstract] [Full Text] [Related]

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