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Items: 1 to 20 of 116

1.

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;7(3):e30778. doi: 10.1371/journal.pone.0030778. Epub 2012 Mar 6.

2.

Presence of autism, hyperserotonemia, and severe expressive language impairment in Williams-Beuren syndrome.

Tordjman S, Anderson GM, Cohen D, Kermarrec S, Carlier M, Touitou Y, Saugier-Veber P, Lagneaux C, Chevreuil C, Verloes A.

Mol Autism. 2013 Aug 23;4(1):29. doi: 10.1186/2040-2392-4-29.

3.

Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region.

Berg JS, Brunetti-Pierri N, Peters SU, Kang SH, Fong CT, Salamone J, Freedenberg D, Hannig VL, Prock LA, Miller DT, Raffalli P, Harris DJ, Erickson RP, Cunniff C, Clark GD, Blazo MA, Peiffer DA, Gunderson KL, Sahoo T, Patel A, Lupski JR, Beaudet AL, Cheung SW.

Genet Med. 2007 Jul;9(7):427-41.

PMID:
17666889
4.

Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits.

Fusco C, Micale L, Augello B, Teresa Pellico M, Menghini D, Alfieri P, Cristina Digilio M, Mandriani B, Carella M, Palumbo O, Vicari S, Merla G.

Eur J Hum Genet. 2014 Jan;22(1):64-70. doi: 10.1038/ejhg.2013.101. Epub 2013 Jun 12.

5.

An atypical deletion of the Williams-Beuren syndrome interval implicates genes associated with defective visuospatial processing and autism.

Edelmann L, Prosnitz A, Pardo S, Bhatt J, Cohen N, Lauriat T, Ouchanov L, González PJ, Manghi ER, Bondy P, Esquivel M, Monge S, Delgado MF, Splendore A, Francke U, Burton BK, McInnes LA.

J Med Genet. 2007 Feb;44(2):136-43. Epub 2006 Sep 13.

6.

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. doi: 10.1002/ajmg.a.37410. Epub 2015 Oct 5.

PMID:
26437767
7.

A triplication of the Williams-Beuren syndrome region in a patient with mental retardation, a severe expressive language delay, behavioural problems and dysmorphisms.

Beunders G, van de Kamp JM, Veenhoven RH, van Hagen JM, Nieuwint AW, Sistermans EA.

J Med Genet. 2010 Apr;47(4):271-5. doi: 10.1136/jmg.2009.070490. Epub 2009 Sep 14.

PMID:
19752158
8.

Behavioral and cognitive phenotype of children and adolescents with Williams-Beuren Syndrome.

Teixeira MC, Monteiro CR, Velloso Rde L, Kim CA, Carreiro LR.

Pro Fono. 2010 Jul-Sep;22(3):215-20. English, Portuguese.

9.

[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 Nov-Dec;212(6):299-307. German.

PMID:
11190824
10.

Autism and Williams syndrome: a case report.

Herguner S, Mukaddes NM.

World J Biol Psychiatry. 2006;7(3):186-8.

PMID:
16861145
11.

Rare genomic rearrangement in a boy with Williams-Beuren syndrome associated to XYY syndrome and intriguing behavior.

Dutra RL, Piazzon FB, Zanardo ÉA, Costa TV, Montenegro MM, Novo-Filho GM, Dias AT, Nascimento AM, Kim CA, Kulikowski LD.

Am J Med Genet A. 2015 Dec;167A(12):3197-203. doi: 10.1002/ajmg.a.37360. Epub 2015 Sep 30.

PMID:
26420477
12.

[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;73(1):47-50. Spanish.

13.

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;66(6):959-64.

14.

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.

15.

The common inversion of the Williams-Beuren syndrome region at 7q11.23 does not cause clinical symptoms.

Tam E, Young EJ, Morris CA, Marshall CR, Loo W, Scherer SW, Mervis CB, Osborne LR.

Am J Med Genet A. 2008 Jul 15;146A(14):1797-806. doi: 10.1002/ajmg.a.32360.

16.

A Novel Recurrent Breakpoint Responsible for Rearrangements in the Williams-Beuren Region.

Plaja A, Castells N, Cueto-González AM, del Campo M, Vendrell T, Lloveras E, Izquierdo L, Borregan M, Rodríguez-Santiago B, Carrió A, Miró R, Tizzano E.

Cytogenet Genome Res. 2015;146(3):181-6. doi: 10.1159/000439463. Epub 2015 Sep 18.

PMID:
26382598
17.

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 4;12(3):3407-11. doi: 10.4238/2013.September.4.7.

18.

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 Nov-Dec;39(6):398-403.

PMID:
9926515
19.

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. doi: 10.1002/ajmg.a.38289. Epub 2017 Jun 2.

PMID:
28574231
20.

Williams-Beuren Syndrome: A Clinical Study of 55 Brazilian Patients and the Diagnostic Use of MLPA.

Honjo RS, Dutra RL, Furusawa EA, Zanardo EA, Costa LS, Kulikowski LD, Bertola DR, Kim CA.

Biomed Res Int. 2015;2015:903175. doi: 10.1155/2015/903175. Epub 2015 May 18. Erratum in: Biomed Res Int. 2015;2015:568047.

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