Similar articles for PMID: 9417924

Year	Number of Results
1987	1
1990	1
1991	3
1992	1
1993	2
1994	2
1995	5
1996	12
1997	10
1998	11
1999	13
2000	6
2001	2
2002	2
2003	2
2004	3
2006	4
2008	2
2009	3
2010	2
2011	1
2013	1
2017	1
2018	1
2019	1
2020	1
2021	1
2022	1
2024	0

1

Localization of the human HIP1 gene close to the elastin (ELN) locus on 7q11.23.

Wedemeyer N, Peoples R, Himmelbauer H, Lehrach H, Francke U, Wanker EE. Wedemeyer N, et al. Genomics. 1997 Dec 1;46(2):313-5. doi: 10.1006/geno.1997.5027. Genomics. 1997. PMID: 9417924 No abstract available.

2

Emerging mechanisms of elastin transcriptional regulation.

Procknow SS, Kozel BA. Procknow SS, et al. Am J Physiol Cell Physiol. 2022 Sep 1;323(3):C666-C677. doi: 10.1152/ajpcell.00228.2022. Epub 2022 Jul 11. Am J Physiol Cell Physiol. 2022. PMID: 35816641 Free PMC article. Review.

3

Atypical 7q11.23 deletions excluding ELN gene result in Williams-Beuren syndrome craniofacial features and neurocognitive profile.

Alesi V, Loddo S, Orlando V, Genovese S, Di Tommaso S, Liambo MT, Pompili D, Ferretti D, Calacci C, Catino G, Falasca R, Dentici ML, Novelli A, Digilio MC, Dallapiccola B. Alesi V, et al. Am J Med Genet A. 2021 Jan;185(1):242-249. doi: 10.1002/ajmg.a.61937. Epub 2020 Oct 24. Am J Med Genet A. 2021. PMID: 33098373

4

Dosage analysis of the 7q11.23 Williams region identifies BAZ1B as a major human gene patterning the modern human face and underlying self-domestication.

Zanella M, Vitriolo A, Andirko A, Martins PT, Sturm S, O'Rourke T, Laugsch M, Malerba N, Skaros A, Trattaro S, Germain PL, Mihailovic M, Merla G, Rada-Iglesias A, Boeckx C, Testa G. Zanella M, et al. Sci Adv. 2019 Dec 4;5(12):eaaw7908. doi: 10.1126/sciadv.aaw7908. eCollection 2019 Dec. Sci Adv. 2019. PMID: 31840056 Free PMC article.

5

Elastin-driven genetic diseases.

Duque Lasio ML, Kozel BA. Duque Lasio ML, et al. Matrix Biol. 2018 Oct;71-72:144-160. doi: 10.1016/j.matbio.2018.02.021. Epub 2018 Feb 28. Matrix Biol. 2018. PMID: 29501665 Free PMC article. Review.

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. Wojcik MH, et al. Am J Med Genet A. 2017 Aug;173(8):2235-2239. doi: 10.1002/ajmg.a.38289. Epub 2017 Jun 2. Am J Med Genet A. 2017. PMID: 28574231 Free PMC article.

7

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. Leme DE, et al. Genet Mol Res. 2013 Sep 4;12(3):3407-11. doi: 10.4238/2013.September.4.7. Genet Mol Res. 2013. PMID: 24065682 Free article.

8

Genetic modifiers of cardiovascular phenotype caused by elastin haploinsufficiency act by extrinsic noncomplementation.

Kozel BA, Knutsen RH, Ye L, Ciliberto CH, Broekelmann TJ, Mecham RP. Kozel BA, et al. J Biol Chem. 2011 Dec 30;286(52):44926-36. doi: 10.1074/jbc.M111.274779. Epub 2011 Nov 2. J Biol Chem. 2011. PMID: 22049077 Free PMC article.

9

Keratoconus associated with Williams-Beuren syndrome: first case reports.

Pinsard L, Touboul D, Vu Y, Lacombe D, Leger F, Colin J. Pinsard L, et al. Ophthalmic Genet. 2010 Dec;31(4):252-6. doi: 10.3109/13816810.2010.523038. Ophthalmic Genet. 2010. PMID: 21067490

10

Pulmonary function and emphysema in Williams-Beuren syndrome.

Wan ES, Pober BR, Washko GR, Raby BA, Silverman EK. Wan ES, et al. Am J Med Genet A. 2010 Mar;152A(3):653-6. doi: 10.1002/ajmg.a.33300. Am J Med Genet A. 2010. PMID: 20186780 Free PMC article.

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