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Items: 1 to 20 of 100

1.

Bilateral semilunar valve disease in a child with partial deletion of the Williams-Beuren syndrome region is associated with elastin haploinsufficiency.

Hinton RB Jr, Deutsch GH, Pearl JM, Hobart HH, Morris CA, Benson DW.

J Heart Valve Dis. 2006 May;15(3):352-5.

PMID:
16784071
2.

Elastin haploinsufficiency results in progressive aortic valve malformation and latent valve disease in a mouse model.

Hinton RB, Adelman-Brown J, Witt S, Krishnamurthy VK, Osinska H, Sakthivel B, James JF, Li DY, Narmoneva DA, Mecham RP, Benson DW.

Circ Res. 2010 Aug 20;107(4):549-57. doi: 10.1161/CIRCRESAHA.110.221358. Epub 2010 Jun 24.

3.

Mechanisms and treatment of cardiovascular disease in Williams-Beuren syndrome.

Pober BR, Johnson M, Urban Z.

J Clin Invest. 2008 May;118(5):1606-15. doi: 10.1172/JCI35309. Review.

4.

Elastin region deletions in Williams syndrome.

Zhang J, Kumar A, Roux K, Williams CA, Wallace MR.

Genet Test. 1999;3(4):357-9.

PMID:
10627943
5.

Connection between elastin haploinsufficiency and increased cell proliferation in patients with supravalvular aortic stenosis and Williams-Beuren syndrome.

Urbán Z, Riazi S, Seidl TL, Katahira J, Smoot LB, Chitayat D, Boyd CD, Hinek A.

Am J Hum Genet. 2002 Jul;71(1):30-44. Epub 2002 May 6.

6.

[Genetic diagnosis of Williams syndrome].

Urbán Z, Kiss E, Kádár K, Szabolcs J, Csiszár K, Boyd DC, Fekete G.

Orv Hetil. 1997 Jul 6;138(27):1749-52. Review. Hungarian.

PMID:
9273487
7.

Delineation of the common critical region in Williams syndrome and clinical correlation of growth, heart defects, ethnicity, and parental origin.

Wu YQ, Sutton VR, Nickerson E, Lupski JR, Potocki L, Korenberg JR, Greenberg F, Tassabehji M, Shaffer LG.

Am J Med Genet. 1998 Jun 16;78(1):82-9.

PMID:
9637430
8.

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.

9.

Skin elastic fibers in Williams syndrome.

Dridi SM, Ghomrasseni S, Bonnet D, Aggoun Y, Vabres P, Bodemer C, Lyonnet S, de Prost Y, Fraitag S, Pellat B, Sidi D, Godeau G.

Am J Med Genet. 1999 Nov 19;87(2):134-8.

PMID:
10533027
10.

Cardiovascular spectrum in Williams-Beuren syndrome: the Mexican experience in 40 patients.

De Rubens Figueroa J, Rodríguez LM, Hach JL, Del Castillo Ruíz V, Martínez HO.

Tex Heart Inst J. 2008;35(3):279-85.

11.

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
12.

Vocal cord abnormalities in Williams syndrome: a further manifestation of elastin deficiency.

Vaux KK, Wojtczak H, Benirschke K, Jones KL.

Am J Med Genet A. 2003 Jun 15;119A(3):302-4.

PMID:
12784297
13.

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
14.

[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
15.

Spectrum of elastin sequence variants and cardiovascular phenotypes in 49 patients with Williams-Beuren syndrome.

Delio M, Pope K, Wang T, Samanich J, Haldeman-Englert CR, Kaplan P, Shaikh TH, Cai J, Marion RW, Morrow BE, Babcock M.

Am J Med Genet A. 2013 Mar;161A(3):527-33. doi: 10.1002/ajmg.a.35784. Epub 2013 Feb 7.

PMID:
23401415
16.

De novo 46,XX,t(6;7)(q27;q11;23) associated with severe cardiovascular manifestations characteristic of supravalvular aortic stenosis and Williams syndrome.

von Dadelszen P, Chitayat D, Winsor EJ, Cohen H, MacDonald C, Taylor G, Rose T, Hornberger LK.

Am J Med Genet. 2000 Feb 14;90(4):270-5.

PMID:
10710222
17.

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
18.

Williams-Beuren syndrome: cardiovascular abnormalities in 20 patients diagnosed with fluorescence in situ hybridization.

Sugayama SM, Moisés RL, Wagënfur J, Ikari NM, Abe KT, Leone C, da Silva CA, Lopes Ferrari Chauffaille Mde L, Kim CA.

Arq Bras Cardiol. 2003 Nov;81(5):462-73. Epub 2003 Dec 1. English, Portuguese.

19.

Engineered zinc-finger proteins can compensate genetic haploinsufficiency by transcriptional activation of the wild-type allele: application to Willams-Beuren syndrome and supravalvular aortic stenosis.

Zhang P, Huang A, Morales-Ruiz M, Starcher BC, Huang Y, Sessa WC, Niklason LE, Giordano FJ.

Hum Gene Ther. 2012 Nov;23(11):1186-99. doi: 10.1089/hum.2011.201.

20.

Williams-Beuren syndrome associated with single kidney and nephrocalcinosis: a case report.

Abidi K, Jellouli M, Ben Rabeh R, Hammi Y, Gargah T.

Pan Afr Med J. 2015 Nov 23;22:276. doi: 10.11604/pamj.2015.22.276.7929. eCollection 2015.

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