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Page 1
Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome.
Meester JA, Southgate L, Stittrich AB, Venselaar H, Beekmans SJ, den Hollander N, Bijlsma EK, Helderman-van den Enden A, Verheij JB, Glusman G, Roach JC, Lehman A, Patel MS, de Vries BB, Ruivenkamp C, Itin P, Prescott K, Clarke S, Trembath R, Zenker M, Sukalo M, Van Laer L, Loeys B, Wuyts W. Meester JA, et al. Among authors: van laer l. Am J Hum Genet. 2015 Sep 3;97(3):475-82. doi: 10.1016/j.ajhg.2015.07.015. Epub 2015 Aug 20. Am J Hum Genet. 2015. PMID: 26299364 Free PMC article.
Localization of a gene for non-syndromic hearing loss (DFNA5) to chromosome 7p15.
van Camp G, Coucke P, Balemans W, van Velzen D, van de Bilt C, van Laer L, Smith RJ, Fukushima K, Padberg GW, Frants RR, et al. van Camp G, et al. Among authors: van de bilt c, van laer l, van velzen d. Hum Mol Genet. 1995 Nov;4(11):2159-63. doi: 10.1093/hmg/4.11.2159. Hum Mol Genet. 1995. PMID: 8589696
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.
A novel DFNA5 mutation does not cause hearing loss in an Iranian family.
Van Laer L, Meyer NC, Malekpour M, Riazalhosseini Y, Moghannibashi M, Kahrizi K, Vandevelde A, Alasti F, Najmabadi H, Van Camp G, Smith RJH. Van Laer L, et al. Among authors: van camp g. J Hum Genet. 2007;52(6):549-552. doi: 10.1007/s10038-007-0137-2. Epub 2007 Apr 11. J Hum Genet. 2007. PMID: 17427029
Association between variations in CAT and noise-induced hearing loss in two independent noise-exposed populations.
Konings A, Van Laer L, Pawelczyk M, Carlsson PI, Bondeson ML, Rajkowska E, Dudarewicz A, Vandevelde A, Fransen E, Huyghe J, Borg E, Sliwinska-Kowalska M, Van Camp G. Konings A, et al. Among authors: van laer l, van camp g. Hum Mol Genet. 2007 Aug 1;16(15):1872-83. doi: 10.1093/hmg/ddm135. Epub 2007 Jun 13. Hum Mol Genet. 2007. PMID: 17567781
Genome-wide SNP-based linkage scan identifies a locus on 8q24 for an age-related hearing impairment trait.
Huyghe JR, Van Laer L, Hendrickx JJ, Fransen E, Demeester K, Topsakal V, Kunst S, Manninen M, Jensen M, Bonaconsa A, Mazzoli M, Baur M, Hannula S, Mäki-Torkko E, Espeso A, Van Eyken E, Flaquer A, Becker C, Stephens D, Sorri M, Orzan E, Bille M, Parving A, Pyykkö I, Cremers CW, Kremer H, Van de Heyning PH, Wienker TF, Nürnberg P, Pfister M, Van Camp G. Huyghe JR, et al. Among authors: van de heyning ph, van eyken e, van laer l, van camp g. Am J Hum Genet. 2008 Sep;83(3):401-7. doi: 10.1016/j.ajhg.2008.08.002. Epub 2008 Aug 28. Am J Hum Genet. 2008. PMID: 18760390 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
177 results