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Page 1
Molecular genetics of Leber congenital amaurosis.
Cremers FP, van den Hurk JA, den Hollander AI. Cremers FP, et al. Among authors: den hollander ai. Hum Mol Genet. 2002 May 15;11(10):1169-76. doi: 10.1093/hmg/11.10.1169. Hum Mol Genet. 2002. PMID: 12015276 Review.
The expanding roles of ABCA4 and CRB1 in inherited blindness.
Cremers FP, Maugeri A, den Hollander AI, Hoyng CB. Cremers FP, et al. Among authors: den hollander ai. Novartis Found Symp. 2004;255:68-79; discussion 79-84, 177-8. doi: 10.1002/0470092645.ch6. Novartis Found Symp. 2004. PMID: 14750597
CRB1 mutation spectrum in inherited retinal dystrophies.
den Hollander AI, Davis J, van der Velde-Visser SD, Zonneveld MN, Pierrottet CO, Koenekoop RK, Kellner U, van den Born LI, Heckenlively JR, Hoyng CB, Handford PA, Roepman R, Cremers FP. den Hollander AI, et al. Hum Mutat. 2004 Nov;24(5):355-69. doi: 10.1002/humu.20093. Hum Mutat. 2004. PMID: 15459956 Review.
Characterization of the Crumbs homolog 2 (CRB2) gene and analysis of its role in retinitis pigmentosa and Leber congenital amaurosis.
van den Hurk JA, Rashbass P, Roepman R, Davis J, Voesenek KE, Arends ML, Zonneveld MN, van Roekel MH, Cameron K, Rohrschneider K, Heckenlively JR, Koenekoop RK, Hoyng CB, Cremers FP, den Hollander AI. van den Hurk JA, et al. Among authors: den hollander ai. Mol Vis. 2005 Apr 15;11:263-73. Mol Vis. 2005. PMID: 15851977 Free article.
[From gene to disease; Leber congenital amaurosis (LCA)].
Yzer S, van den Born LI, Cremers FP, den Hollander AI. Yzer S, et al. Among authors: den hollander ai. Ned Tijdschr Geneeskd. 2005 Oct 15;149(42):2334-7. Ned Tijdschr Geneeskd. 2005. PMID: 16261712 Review. Dutch.
Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss.
Kalay E, Li Y, Uzumcu A, Uyguner O, Collin RW, Caylan R, Ulubil-Emiroglu M, Kersten FF, Hafiz G, van Wijk E, Kayserili H, Rohmann E, Wagenstaller J, Hoefsloot LH, Strom TM, Nürnberg G, Baserer N, den Hollander AI, Cremers FP, Cremers CW, Becker C, Brunner HG, Nürnberg P, Karaguzel A, Basaran S, Kubisch C, Kremer H, Wollnik B. Kalay E, et al. Among authors: den hollander ai. Hum Mutat. 2006 Jul;27(7):633-9. doi: 10.1002/humu.20368. Hum Mutat. 2006. PMID: 16752389
Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis.
den Hollander AI, Koenekoop RK, Yzer S, Lopez I, Arends ML, Voesenek KE, Zonneveld MN, Strom TM, Meitinger T, Brunner HG, Hoyng CB, van den Born LI, Rohrschneider K, Cremers FP. den Hollander AI, et al. Am J Hum Genet. 2006 Sep;79(3):556-61. doi: 10.1086/507318. Epub 2006 Jul 11. Am J Hum Genet. 2006. PMID: 16909394 Free PMC article.
Towards understanding CRUMBS function in retinal dystrophies.
Richard M, Roepman R, Aartsen WM, van Rossum AG, den Hollander AI, Knust E, Wijnholds J, Cremers FP. Richard M, et al. Among authors: den hollander ai. Hum Mol Genet. 2006 Oct 15;15 Spec No 2:R235-43. doi: 10.1093/hmg/ddl195. Hum Mol Genet. 2006. PMID: 16987889 Review.
Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment.
Collin RW, Kalay E, Oostrik J, Caylan R, Wollnik B, Arslan S, den Hollander AI, Birinci Y, Lichtner P, Strom TM, Toraman B, Hoefsloot LH, Cremers CW, Brunner HG, Cremers FP, Karaguzel A, Kremer H. Collin RW, et al. Among authors: den hollander ai. Hum Mutat. 2007 Jul;28(7):718-23. doi: 10.1002/humu.20510. Hum Mutat. 2007. PMID: 17373699
292 results