HL073703/HL/NHLBI NIH HHS/United States[Grant Number] - Search Results

Year	Number of Results
2005	2
2006	5
2007	2
2008	1
2009	1
2010	1
2012	1
2016	1
2017	1
2024	0

1

Berk DR, Bentley DD, Bayliss SJ, Lind A, Urban Z. Berk DR, et al. J Am Acad Dermatol. 2012 May;66(5):842.e1-17. doi: 10.1016/j.jaad.2011.01.004. Epub 2012 Mar 2. J Am Acad Dermatol. 2012. PMID: 22387031 Review.

2

Mechanisms of emphysema in autosomal dominant cutis laxa.

Hu Q, Shifren A, Sens C, Choi J, Szabo Z, Starcher BC, Knutsen RH, Shipley JM, Davis EC, Mecham RP, Urban Z. Hu Q, et al. Matrix Biol. 2010 Sep;29(7):621-8. doi: 10.1016/j.matbio.2010.06.005. Epub 2010 Jun 28. Matrix Biol. 2010. PMID: 20600892 Free PMC article.

3

Novel ELN mutation in a family with supravalvular aortic stenosis and intracranial aneurysm.

Jelsig AM, Urban Z, Hucthagowder V, Nissen H, Ousager LB. Jelsig AM, et al. Eur J Med Genet. 2017 Feb;60(2):110-113. doi: 10.1016/j.ejmg.2016.11.004. Epub 2016 Nov 16. Eur J Med Genet. 2017. PMID: 27866049 Free PMC article.

4

DANCE/fibulin-5 promotes elastic fiber formation in a tropoelastin isoform-dependent manner.

Nonaka R, Onoue S, Wachi H, Sato F, Urban Z, Starcher BC, Seyama Y. Nonaka R, et al. Clin Biochem. 2009 May;42(7-8):713-21. doi: 10.1016/j.clinbiochem.2008.12.020. Epub 2009 Jan 8. Clin Biochem. 2009. PMID: 19167375

5

Congenital heart disease: Molecular diagnostics of supravalvular aortic stenosis.

Tassabehji M, Urban Z. Tassabehji M, et al. Methods Mol Med. 2006;126:129-56. doi: 10.1385/1-59745-088-X:129. Methods Mol Med. 2006. PMID: 16930010

6

Domains 16 and 17 of tropoelastin in elastic fibre formation.

Wachi H, Sato F, Nakazawa J, Nonaka R, Szabo Z, Urban Z, Yasunaga T, Maeda I, Okamoto K, Starcher BC, Li DY, Mecham RP, Seyama Y. Wachi H, et al. Biochem J. 2007 Feb 15;402(1):63-70. doi: 10.1042/BJ20061145. Biochem J. 2007. PMID: 17037986 Free PMC article.

7

Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome.

Hucthagowder V, Sausgruber N, Kim KH, Angle B, Marmorstein LY, Urban Z. Hucthagowder V, et al. Am J Hum Genet. 2006 Jun;78(6):1075-80. doi: 10.1086/504304. Epub 2006 Apr 10. Am J Hum Genet. 2006. PMID: 16685658 Free PMC article.

8

Fibulin-5 mutations: mechanisms of impaired elastic fiber formation in recessive cutis laxa.

Hu Q, Loeys BL, Coucke PJ, De Paepe A, Mecham RP, Choi J, Davis EC, Urban Z. Hu Q, et al. Hum Mol Genet. 2006 Dec 1;15(23):3379-86. doi: 10.1093/hmg/ddl414. Epub 2006 Oct 11. Hum Mol Genet. 2006. PMID: 17035250

9

Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation.

Morava E, Lefeber DJ, Urban Z, de Meirleir L, Meinecke P, Gillessen Kaesbach G, Sykut-Cegielska J, Adamowicz M, Salafsky I, Ranells J, Lemyre E, van Reeuwijk J, Brunner HG, Wevers RA. Morava E, et al. Eur J Hum Genet. 2008 Jan;16(1):28-35. doi: 10.1038/sj.ejhg.5201947. Epub 2007 Oct 31. Eur J Hum Genet. 2008. PMID: 17971833

10

Sensorineural hearing loss in children and adults with Williams syndrome.

Marler JA, Elfenbein JL, Ryals BM, Urban Z, Netzloff ML. Marler JA, et al. Am J Med Genet A. 2005 Nov 1;138(4):318-27. doi: 10.1002/ajmg.a.30970. Am J Med Genet A. 2005. PMID: 16222677

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