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Items: 1 to 20 of 234

1.

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.

2.

[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
3.

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
4.

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;31(4):252-6. doi: 10.3109/13816810.2010.523038.

PMID:
21067490
5.

[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.

6.

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
7.

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.

8.

[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. Spanish.

PMID:
10425618
9.

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.

PMID:
9880214
10.

Williams-Beuren syndrome: diagnosis by polymorphic markers.

Sbruzzi IC, Pereira AC, Vasconcelos B, Honjo RS, Krieger JE, Kim CA.

Genet Test Mol Biomarkers. 2010 Apr;14(2):209-14. doi: 10.1089/gtmb.2009.0120.

PMID:
20136526
11.

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.

12.

Williams-Beuren Syndrome and Burkitt Leukemia.

Zhukova N, Naqvi A.

J Pediatr Hematol Oncol. 2013 Jan;35(1):e30-2. doi: 10.1097/MPH.0b013e318270672f.

PMID:
23018576
13.

Clinical and molecular cytogenetic (FISH) diagnosis of Williams syndrome.

Brewer CM, Morrison N, Tolmie JL.

Arch Dis Child. 1996 Jan;74(1):59-61.

14.

Investigation of deletions at 7q11.23 in 44 patients referred for Williams-Beuren syndrome, using FISH and four DNA polymorphisms.

Brøndum-Nielsen K, Beck B, Gyftodimou J, Hørlyk H, Liljenberg U, Petersen MB, Pedersen W, Petersen MB, Sand A, Skovby F, Stafanger G, Zetterqvist P, Tommerup N.

Hum Genet. 1997 Jan;99(1):56-61.

PMID:
9003495
15.

Williams Syndrome: development of a new scoring system for clinical diagnosis.

Sugayama SM, Leone C, Chauffaille Mde L, Okay TS, Kim CA.

Clinics (Sao Paulo). 2007 Apr;62(2):159-66. Review.

16.

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. doi: 10.3109/13816810.2012.739257. Epub 2012 Nov 20.

PMID:
23167938
17.

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.

18.

Williams-Beuren syndrome diagnosis using fluorescence in situ hybridization.

Osborne LR, Joseph-George AM, Scherer SW.

Methods Mol Med. 2006;126:113-28.

PMID:
16930009
19.

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.

20.

FISH analysis in patients with clinical diagnosis of Williams syndrome.

Elçioglu N, Mackie-Ogilvie C, Daker M, Berry AC.

Acta Paediatr. 1998 Jan;87(1):48-53. Review.

PMID:
9510447

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