Mutations in the CEP290 ( NPHP6) Gene Are a Frequent Cause of Leber Congenital Amaurosis
den Hollander, Anneke I., Koenekoop, Robert K., Yzer, Suzanne, Lopez, Irma, Arends, Maarten L., Voesenek, Krysta E.J., Zonneveld, Marijke N., Strom, Tim M., Meitinger, Thomas, Brunner, Han G., Hoyng, Carel B., van den Born, L. Ingeborgh, Rohrschneider, Klaus, Cremers, Frans P.M.
Published in American journal of human genetics (01.09.2006)
Published in American journal of human genetics (01.09.2006)
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Journal Article
Identification of Novel Mutations in Patients with Leber Congenital Amaurosis and Juvenile RP by Genome-wide Homozygosity Mapping with SNP Microarrays
den Hollander, Anneke I, Lopez, Irma, Yzer, Suzanne, Zonneveld, Marijke N, Janssen, Irene M, Strom, Tim M, Hehir-Kwa, Jayne Y, Veltman, Joris A, Arends, Maarten L, Meitinger, Thomas, Musarella, Maria A, van den Born, L. Ingeborgh, Fishman, Gerald A, Maumenee, Irene H, Rohrschneider, Klaus, Cremers, Frans P. M, Koenekoop, Robert K
Published in Investigative ophthalmology & visual science (01.12.2007)
Published in Investigative ophthalmology & visual science (01.12.2007)
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FERM protein EPB41L5 is a novel member of the mammalian CRB–MPP5 polarity complex
Gosens, Ilse, Sessa, Alessandro, den Hollander, Anneke I., Letteboer, Stef J.F., Belloni, Valentina, Arends, Maarten L., Le Bivic, André, Cremers, Frans P.M., Broccoli, Vania, Roepman, Ronald
Published in Experimental cell research (15.11.2007)
Published in Experimental cell research (15.11.2007)
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Characterization of the Crumbs homolog 2 (CRB2) gene and analysis of its role in retinitis pigmentosa and Leber congenital amaurosis
van den Hurk, José A J M, Rashbass, Penny, Roepman, Ronald, Davis, Jason, Voesenek, Krysta E J, Arends, Maarten L, Zonneveld, Marijke N, van Roekel, Marga H G, Cameron, Karen, Rohrschneider, Klaus, Heckenlively, John R, Koenekoop, Robert K, Hoyng, Carel B, Cremers, Frans P M, den Hollander, Anneke I
Published in Molecular vision (15.04.2005)
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Published in Molecular vision (15.04.2005)
Journal Article
Novel compound heterozygous TULP1 mutations in a family with severe early-onset retinitis pigmentosa
den Hollander, Anneke I, van Lith-Verhoeven, Janneke J C, Arends, Maarten L, Strom, Tim M, Cremers, Frans P M, Hoyng, Carel B
Published in Archives of ophthalmology (1960) (01.07.2007)
Published in Archives of ophthalmology (1960) (01.07.2007)
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