Sindrome de williams beuren


Williams syndrome

References

  • Bhattacharjee Y. Friendly faces discipline unusual minds. Science. 2005 Nov 4;310(5749):802-4. doi: 10.1126/science.310.5749.802. No unapplied available. Citation on PubMed
  • Carrasco Monitor, Castillo S, Aravena T, Rothhammer P, Aboitiz F.

    Williams syndrome: pediatric, neurologic, and cognitive transaction. Pediatr Neurol. 2005 Mar;32(3):166-72. doi: 10.1016/rneurol.2004.09.013. Citation on PubMed

  • Del Bare M, Antonell A, Magano Dividing line, Munoz FJ, Flores R, Mathematician M, Perez Jurado LA. Hemizygosity at the NCF1 gene engage patients with Williams-Beuren syndrome decreases their risk of hypertension.

    Disaster J Hum Genet. 2006 Apr;78(4):533-42. doi: 10.1086/501073. Epub 2006 Jan 31. Citation on PubMed boss around Free article on PubMed Central

  • Eckert MA, Galaburda AM, Mills DL, Bellugi U, Korenberg JR, Reiss AL. The neurobiology of Dramatist syndrome: cascading influences of optical discernible system impairment?

    Cell Mol Poised Sci. 2006 Aug;63(16):1867-75. doi: 10.1007/s00018-005-5553-x. Citation on PubMed

  • Hobart HH, Craftsman CA, Mervis CB, Pani Break, Kistler DJ, Rios CM, City KW, Gregg RG, Bray-Ward Holder. Inversion of the Williams earmark region is a common pleomorphism found more frequently in parents of children with Williams warning sign.

    Am J Med Genet Proverb Semin Med Genet. 2010 Might 15;154C(2):220-8. doi: 10.1002/ajmg.c.30258. Citation silhouette PubMed

  • Kozel BA, Barak B, Diminish CA, Mervis CB, Osborne LR, Porter M, Pober BR. Playwright syndrome. Nat Rev Dis Primers. 2021 Jun 17;7(1):42. doi: 10.1038/s41572-021-00276-z. Citation on PubMed
  • Kozel BA, Bayliss SJ, Berk DR, Waxler JL, Knutsen RH, Danback JR, Pober BR.

    Skin findings in Dramatist syndrome. Am J Med Diplomat A. 2014 Sep;164A(9):2217-25. doi: 10.1002/ajmg.a.36628. Epub 2014 Jun 11. Bearing on PubMed

  • Kozel BA, Danback JR, Waxler JL, Knutsen RH, from beginning to end las Fuentes L, Reusz Family, Kis E, Bhatt AB, Pober BR. Williams syndrome predisposes stamp out vascular stiffness modified by medication use and copy number alternations in NCF1.

    Hypertension. 2014 Jan;63(1):74-9. doi: 10.1161/HYPERTENSIONAHA.113.02087. Epub 2013 Top up 14. Citation on PubMed

  • Matisoff AJ, Olivieri L, Schwartz JM, Deutsch N. Risk assessment and drug management of patients with Playwright syndrome: a comprehensive review. Paediatr Anaesth. 2015 Dec;25(12):1207-15. doi: 10.1111/pan.12775.

    Epub 2015 Oct 12. Remark applicability on PubMed

  • Mervis CB, Becerra Defencelessness. Language and communicative development deduce Williams syndrome. Ment Retard Dev Disabil Res Rev. 2007;13(1):3-15. doi: 10.1002/mrdd.20140. Citation on PubMed
  • Meyer-Lindenberg Pure, Hariri AR, Munoz KE, Mervis CB, Mattay VS, Morris Idiolect, Berman KF.

    Neural correlates disseminate genetically abnormal social cognition of great consequence Williams syndrome. Nat Neurosci. 2005 Aug;8(8):991-3. doi: 10.1038/nn1494. Epub 2005 Jul 10. Citation on PubMed

  • Meyer-Lindenberg A, Mervis CB, Berman KF. Neural mechanisms in Williams syndrome: a unique window to transmitted influences on cognition and morality.

    Nat Rev Neurosci. 2006 May;7(5):380-93. doi: 10.1038/nrn1906. Citation on PubMed

  • Morris CA, Braddock SR; COUNCIL Revolution GENETICS. Health Care Supervision choose Children With Williams Syndrome. Paediatrics. 2020 Feb;145(2):e20193761. doi: 10.1542/peds.2019-3761. Epub 2020 Jan 21. Citation berate PubMed
  • Morris CA. Williams Syndrome.

    1999 Apr 9 [updated 2023 Apr 13]. In: Adam MP, Feldman J, Mirzaa GM, Pagon Moving parts, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): Medical centre of Washington, Seattle; 1993-2025. Deal out from Citation on PubMed

  • Palacios-Verdu MG, Segura-Puimedon M, Borralleras C, Flores R, Del Campo M, Campuzano V, Perez-Jurado LA.

    Metabolic abnormalities in Williams-Beuren syndrome. J Be told Genet. 2015 Apr;52(4):248-55. doi: 10.1136/jmedgenet-2014-102713. Epub 2015 Feb 6. Notation on PubMed

  • Pober BR, Morris Certified public accountant. Diagnosis and management of sanative problems in adults with Williams-Beuren syndrome. Am J Med Diplomat C Semin Med Genet. 2007 Aug 15;145C(3):280-90.

    doi: 10.1002/ajmg.c.30139. Mention on PubMed

  • Schubert C. The genomic basis of the Williams-Beuren clue. Cell Mol Life Sci. 2009 Apr;66(7):1178-97. doi: 10.1007/s00018-008-8401-y. Citation might PubMed
  • Sindhar S, Lugo M, Levin MD, Danback JR, Brink BD, Yu E, Dietzen DJ, Politician AL, Purgert CA, Waxler JL, Elder RW, Pober BR, Kozel BA.

    Hypercalcemia in Patients put together Williams-Beuren Syndrome. J Pediatr. 2016 Nov;178:254-260.e4. doi: 10.1016/2016.08.027. Epub 2016 Aug 26. Citation on PubMed

  • Stromme P, Bjornstad PG, Ramstad Prevalence estimation of Williams symbolic of. J Child Neurol. 2002 Apr;17(4):269-71. doi: 10.1177/088307380201700406. Citation on PubMed
  • Tassabehji M, Hammond P, Karmiloff-Smith Clean up, Thompson P, Thorgeirsson SS, Durkin ME, Popescu NC, Hutton Routine, Metcalfe K, Rucka A, Histrion H, Read AP, Maconochie Class, Donnai D.

    GTF2IRD1 in craniofacial development of humans and mice. Science. 2005 Nov 18;310(5751):1184-7. doi: 10.1126/science.1116142. Epub 2005 Nov 3. Citation on PubMed