Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

172 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Novel pathogenic SMAD2 variants in five families with arterial aneurysm and dissection: further delineation of the phenotype.
Cannaerts E, Kempers M, Maugeri A, Marcelis C, Gardeitchik T, Richer J, Micha D, Beauchesne L, Timmermans J, Vermeersch P, Meyten N, Chénier S, van de Beek G, Peeters N, Alaerts M, Schepers D, Van Laer L, Verstraeten A, Loeys B. Cannaerts E, et al. Among authors: van de beek g, van laer l. J Med Genet. 2019 Apr;56(4):220-227. doi: 10.1136/jmedgenet-2018-105304. Epub 2018 Jul 2. J Med Genet. 2019. PMID: 29967133
Autosomal dominant nonsyndromic hearing impairment.
Van Laer L, McGuirt WT, Yang T, Smith RJ, Van Camp G. Van Laer L, et al. Among authors: van camp g. Am J Med Genet. 1999 Sep 24;89(3):167-74. doi: 10.1002/(sici)1096-8628(19990924)89:3<167::aid-ajmg7>3.3.co;2-m. Am J Med Genet. 1999. PMID: 10704191 Review.
DFNA5: hearing impairment exon instead of hearing impairment gene?
Van Laer L, Vrijens K, Thys S, Van Tendeloo VF, Smith RJ, Van Bockstaele DR, Timmermans JP, Van Camp G. Van Laer L, et al. Among authors: van tendeloo vf, van bockstaele dr, van camp g. J Med Genet. 2004 Jun;41(6):401-6. doi: 10.1136/jmg.2003.015073. J Med Genet. 2004. PMID: 15173223 Free PMC article.
Contribution of the N-acetyltransferase 2 polymorphism NAT2*6A to age-related hearing impairment.
Van Eyken E, Van Camp G, Fransen E, Topsakal V, Hendrickx JJ, Demeester K, Van de Heyning P, Mäki-Torkko E, Hannula S, Sorri M, Jensen M, Parving A, Bille M, Baur M, Pfister M, Bonaconsa A, Mazzoli M, Orzan E, Espeso A, Stephens D, Verbruggen K, Huyghe J, Dhooge I, Huygen P, Kremer H, Cremers CW, Kunst S, Manninen M, Pyykkö I, Lacava A, Steffens M, Wienker TF, Van Laer L. Van Eyken E, et al. Among authors: van laer l, van de heyning p, van camp g. J Med Genet. 2007 Sep;44(9):570-8. doi: 10.1136/jmg.2007.049205. Epub 2007 May 18. J Med Genet. 2007. PMID: 17513527 Free PMC article.
Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy.
Ajit Bolar N, Vanlander AV, Wilbrecht C, Van der Aa N, Smet J, De Paepe B, Vandeweyer G, Kooy F, Eyskens F, De Latter E, Delanghe G, Govaert P, Leroy JG, Loeys B, Lill R, Van Laer L, Van Coster R. Ajit Bolar N, et al. Among authors: van der aa n, van coster r, van laer l. Hum Mol Genet. 2013 Jul 1;22(13):2590-602. doi: 10.1093/hmg/ddt107. Epub 2013 Mar 5. Hum Mol Genet. 2013. PMID: 23462291
Thoracic aortic aneurysm in infancy in aneurysms-osteoarthritis syndrome due to a novel SMAD3 mutation: further delineation of the phenotype.
Wischmeijer A, Van Laer L, Tortora G, Bolar NA, Van Camp G, Fransen E, Peeters N, di Bartolomeo R, Pacini D, Gargiulo G, Turci S, Bonvicini M, Mariucci E, Lovato L, Brusori S, Ritelli M, Colombi M, Garavelli L, Seri M, Loeys BL. Wischmeijer A, et al. Among authors: van laer l, van camp g. Am J Med Genet A. 2013 May;161A(5):1028-35. doi: 10.1002/ajmg.a.35852. Epub 2013 Mar 29. Am J Med Genet A. 2013. PMID: 23554019
A dominant-negative GFI1B mutation in the gray platelet syndrome.
Monteferrario D, Bolar NA, Marneth AE, Hebeda KM, Bergevoet SM, Veenstra H, Laros-van Gorkom BA, MacKenzie MA, Khandanpour C, Botezatu L, Fransen E, Van Camp G, Duijnhouwer AL, Salemink S, Willemsen B, Huls G, Preijers F, Van Heerde W, Jansen JH, Kempers MJ, Loeys BL, Van Laer L, Van der Reijden BA. Monteferrario D, et al. Among authors: van der reijden ba, van laer l, van heerde w, van camp g. N Engl J Med. 2014 Jan 16;370(3):245-53. doi: 10.1056/NEJMoa1308130. Epub 2013 Dec 10. N Engl J Med. 2014. PMID: 24325358 Free article.
172 results