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164 related items for PubMed ID: 26703032

  • 1. A Patient With Pansynostosis and Williams-Beuren Syndrome.
    Kansy K, Freudlsperger C, Hoffmann J, Engel M.
    J Craniofac Surg; 2016 Jan; 27(1):e4-6. PubMed ID: 26703032
    [Abstract] [Full Text] [Related]

  • 2. 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; 34(3):174-7. PubMed ID: 23167938
    [Abstract] [Full Text] [Related]

  • 3. 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; 36(6):523-7. PubMed ID: 23899771
    [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; 170A(1):148-55. PubMed ID: 26437767
    [Abstract] [Full Text] [Related]

  • 5. 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
    [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; 117(4):383-8. PubMed ID: 15933846
    [Abstract] [Full Text] [Related]

  • 7. 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]

  • 8. [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 28; 212(6):299-307. PubMed ID: 11190824
    [Abstract] [Full Text] [Related]

  • 9. Williams-Beuren Syndrome and Burkitt Leukemia.
    Zhukova N, Naqvi A.
    J Pediatr Hematol Oncol; 2013 Jan 28; 35(1):e30-2. PubMed ID: 23018576
    [Abstract] [Full Text] [Related]

  • 10. Pelvic hypoplastic kidney in a patient with Williams-Beuren syndrome.
    Stathaki M, Papadopoulou E, Koukouraki S, Sifakis S, Papadaki E, Kalmanti M, Karkavitsas N.
    Hell J Nucl Med; 2011 Jan 28; 14(2):160-2. PubMed ID: 21761019
    [Abstract] [Full Text] [Related]

  • 11. 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]

  • 12. 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]

  • 13. Partial 7q11.23 deletions further implicate GTF2I and GTF2IRD1 as the main genes responsible for the Williams-Beuren syndrome neurocognitive profile.
    Antonell A, Del Campo M, Magano LF, Kaufmann L, de la Iglesia JM, Gallastegui F, Flores R, Schweigmann U, Fauth C, Kotzot D, Pérez-Jurado LA.
    J Med Genet; 2010 May 07; 47(5):312-20. PubMed ID: 19897463
    [Abstract] [Full Text] [Related]

  • 14. Autistic disorder in patients with Williams-Beuren syndrome: a reconsideration of the Williams-Beuren syndrome phenotype.
    Tordjman S, Anderson GM, Botbol M, Toutain A, Sarda P, Carlier M, Saugier-Veber P, Baumann C, Cohen D, Lagneaux C, Tabet AC, Verloes A.
    PLoS One; 2012 May 07; 7(3):e30778. PubMed ID: 22412832
    [Abstract] [Full Text] [Related]

  • 15. 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 May 07; 39(6):398-403. PubMed ID: 9926515
    [Abstract] [Full Text] [Related]

  • 16. Detection of deletions at 7q11.23 in Williams-Beuren syndrome by polymorphic markers.
    Dutra RL, Pieri Pde C, Teixeira AC, Honjo RS, Bertola DR, Kim CA.
    Clinics (Sao Paulo); 2011 May 07; 66(6):959-64. PubMed ID: 21808859
    [Abstract] [Full Text] [Related]

  • 17. 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]

  • 18. 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 01; 31(4):252-6. PubMed ID: 21067490
    [Abstract] [Full Text] [Related]

  • 19. 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 01; 61(2):205-212. PubMed ID: 32157657
    [Abstract] [Full Text] [Related]

  • 20. Williams-Beuren syndrome diagnosis using fluorescence in situ hybridization.
    Osborne LR, Joseph-George AM, Scherer SW.
    Methods Mol Med; 2006 May 01; 126():113-28. PubMed ID: 16930009
    [Abstract] [Full Text] [Related]

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