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Journal Abstract Search

678 related items for PubMed ID: 17625998

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  • 2. [Clinical characterization, molecular and FISH studies in 80 patients with clinical suspicion of Williams-Beuren syndrome].
    Milà M, Carrió A, Sánchez A, Gómez D, Jiménez D, Estivill X, Ballesta F.
    Med Clin (Barc); 1999 Jun 19; 113(2):46-9. PubMed ID: 10425618
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  • 3. Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome.
    Van der Aa N, Rooms L, Vandeweyer G, van den Ende J, Reyniers E, Fichera M, Romano C, Delle Chiaie B, Mortier G, Menten B, Destrée A, Maystadt I, Männik K, Kurg A, Reimand T, McMullan D, Oley C, Brueton L, Bongers EM, van Bon BW, Pfund R, Jacquemont S, Ferrarini A, Martinet D, Schrander-Stumpel C, Stegmann AP, Frints SG, de Vries BB, Ceulemans B, Kooy RF.
    Eur J Med Genet; 2009 Jun 19; 52(2-3):94-100. PubMed ID: 19249392
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  • 4. Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation.
    Battaglia A, Hoyme HE, Dallapiccola B, Zackai E, Hudgins L, McDonald-McGinn D, Bahi-Buisson N, Romano C, Williams CA, Brailey LL, Zuberi SM, Carey JC.
    Pediatrics; 2008 Feb 19; 121(2):404-10. PubMed ID: 18245432
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  • 6. [Williams syndrome without cardiovascular abnormalities].
    Cincinnati P, Genuardi M, Rutiloni C.
    Minerva Pediatr; 1998 Nov 19; 50(11):467-71. PubMed ID: 10207296
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  • 8. New findings concerning cardiovascular manifestations emerging from long-term follow-up of 150 patients with the Williams-Beuren-Beuren syndrome.
    Del Pasqua A, Rinelli G, Toscano A, Iacobelli R, Digilio C, Marino B, Saffirio C, Mondillo S, Pasquini L, Sanders SP, de Zorzi A.
    Cardiol Young; 2009 Dec 19; 19(6):563-7. PubMed ID: 19941695
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  • 11. Molecular cytogenetic diagnosis of Williams syndrome.
    Hirota H, Matsuoka R, Kimura M, Imamura S, Joh-o K, Ando M, Takao A, Momma K.
    Am J Med Genet; 1996 Aug 23; 64(3):473-7. PubMed ID: 8862624
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  • 12. Clinical manifestations and molecular investigation of 50 patients with Williams syndrome in the Greek population.
    Amenta S, Sofocleous C, Kolialexi A, Thomaidis L, Giouroukos S, Karavitakis E, Mavrou A, Kitsiou S, Kanavakis E, Fryssira H.
    Pediatr Res; 2005 Jun 23; 57(6):789-95. PubMed ID: 15774842
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  • 14. Three decades of follow-up of aortic and pulmonary vascular lesions in the Williams-Beuren syndrome.
    Wessel A, Pankau R, Kececioglu D, Ruschewski W, Bürsch JH.
    Am J Med Genet; 1994 Sep 01; 52(3):297-301. PubMed ID: 7810560
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  • 16. Cognitive functioning in Williams syndrome: a study in Portuguese and Spanish patients.
    Sampaio A, Férnandez M, Henriques M, Carracedo A, Sousa N, Gonçalves OF.
    Eur J Paediatr Neurol; 2009 Jul 01; 13(4):337-42. PubMed ID: 18708293
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