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Results: 1 to 20 of 155

Related Citations for PubMed (Select 19568270)

1.

An atypical 7q11.23 deletion in a normal IQ Williams-Beuren syndrome patient.

Ferrero GB, Howald C, Micale L, Biamino E, Augello B, Fusco C, Turturo MG, Forzano S, Reymond A, Merla G.

Eur J Hum Genet. 2010 Jan;18(1):33-8. doi: 10.1038/ejhg.2009.108. Epub .

2.

A 1.3-mb 7q11.23 atypical deletion identified in a cohort of patients with williams-beuren syndrome.

Delgado LM, Gutierrez M, Augello B, Fusco C, Micale L, Merla G, Pastene EA.

Mol Syndromol. 2013 Mar;4(3):143-7. doi: 10.1159/000347167. Epub 2013 Feb 28.

3.

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;47(5):312-20. doi: 10.1136/jmg.2009.071712. Epub 2009 Nov 5.

PMID:
19897463
4.

The contribution of CLIP2 haploinsufficiency to the clinical manifestations of the Williams-Beuren syndrome.

Vandeweyer G, Van der Aa N, Reyniers E, Kooy RF.

Am J Hum Genet. 2012 Jun 8;90(6):1071-8. doi: 10.1016/j.ajhg.2012.04.020. Epub 2012 May 17.

5.

Haploinsufficiency of Gtf2i, a gene deleted in Williams Syndrome, leads to increases in social interactions.

Sakurai T, Dorr NP, Takahashi N, McInnes LA, Elder GA, Buxbaum JD.

Autism Res. 2011 Feb;4(1):28-39. doi: 10.1002/aur.169. Epub 2010 Dec 3.

PMID:
21328569
6.

GTF2I hemizygosity implicated in mental retardation in Williams syndrome: genotype-phenotype analysis of five families with deletions in the Williams syndrome region.

Morris CA, Mervis CB, Hobart HH, Gregg RG, Bertrand J, Ensing GJ, Sommer A, Moore CA, Hopkin RJ, Spallone PA, Keating MT, Osborne L, Kimberley KW, Stock AD.

Am J Med Genet A. 2003 Nov 15;123A(1):45-59.

PMID:
14556246
7.

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.

8.

Negative autoregulation of GTF2IRD1 in Williams-Beuren syndrome via a novel DNA binding mechanism.

Palmer SJ, Santucci N, Widagdo J, Bontempo SJ, Taylor KM, Tay ES, Hook J, Lemckert F, Gunning PW, Hardeman EC.

J Biol Chem. 2010 Feb 12;285(7):4715-24. doi: 10.1074/jbc.M109.086660. Epub 2009 Dec 9.

10.

Anxious, hypoactive phenotype combined with motor deficits in Gtf2ird1 null mouse model relevant to Williams syndrome.

Schneider T, Skitt Z, Liu Y, Deacon RM, Flint J, Karmiloff-Smith A, Rawlins JN, Tassabehji M.

Behav Brain Res. 2012 Aug 1;233(2):458-73. doi: 10.1016/j.bbr.2012.05.014. Epub 2012 May 28.

PMID:
22652393
11.

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
12.

Contribution of CYLN2 and GTF2IRD1 to neurological and cognitive symptoms in Williams Syndrome.

van Hagen JM, van der Geest JN, van der Giessen RS, Lagers-van Haselen GC, Eussen HJ, Gille JJ, Govaerts LC, Wouters CH, de Coo IF, Hoogenraad CC, Koekkoek SK, Frens MA, van Camp N, van der Linden A, Jansweijer MC, Thorgeirsson SS, De Zeeuw CI.

Neurobiol Dis. 2007 Apr;26(1):112-24. Epub 2006 Dec 20.

PMID:
17270452
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.
15.

Identification of GTF2IRD1, a putative transcription factor within the Williams-Beuren syndrome deletion at 7q11.23.

Franke Y, Peoples RJ, Francke U.

Cytogenet Cell Genet. 1999;86(3-4):296-304.

PMID:
10575229
16.

Williams-Beuren syndrome: determination of deletion size using quantitative real-time PCR.

Schubert C, Laccone F.

Int J Mol Med. 2006 Nov;18(5):799-806.

PMID:
17016608
17.

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;10(6):351-61.

18.

Williams syndrome deficits in visual spatial processing linked to GTF2IRD1 and GTF2I on chromosome 7q11.23.

Hirota H, Matsuoka R, Chen XN, Salandanan LS, Lincoln A, Rose FE, Sunahara M, Osawa M, Bellugi U, Korenberg JR.

Genet Med. 2003 Jul-Aug;5(4):311-21.

PMID:
12865760
19.

[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.

20.

[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
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