Search Results - "Henkes, Arjen"

Mutations in the Mevalonate Kinase ( MVK ) Gene Cause Nonsyndromic Retinitis Pigmentosa by Siemiatkowska, Anna M., PhD, van den Born, L. Ingeborgh, MD, PhD, van Hagen, P. Martin, MD, PhD, Stoffels, Monique, MSc, Neveling, Kornelia, PhD, Henkes, Arjen, BSc, Kipping-Geertsema, Mieke, BSc, Hoefsloot, Lies H., PhD, Hoyng, Carel B., MD, PhD, Simon, Anna, MD, PhD, den Hollander, Anneke I., PhD, Cremers, Frans P.M., PhD, Collin, Rob W.J., PhD

“…Objective Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous disorder characterized by night blindness and peripheral vision loss, and in…”
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Deleterious Germline BLM Mutations and the Risk for Early-onset Colorectal Cancer by de Voer, Richarda M., Hahn, Marc-Manuel, Mensenkamp, Arjen R., Hoischen, Alexander, Gilissen, Christian, Henkes, Arjen, Spruijt, Liesbeth, van Zelst-Stams, Wendy A., Marleen Kets, C., Verwiel, Eugene T., Nagtegaal, Iris D., Schackert, Hans K., van Kessel, Ad Geurts, Hoogerbrugge, Nicoline, Ligtenberg, Marjolijn J.L., Kuiper, Roland P.

“…Bloom syndrome is an autosomal recessive disorder characterized by chromosomal instability and increased cancer risk, caused by biallelic mutations in the…”
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Variants in Nebulin (NEB) Are Linked to the Development of Familial Primary Angle Closure Glaucoma in Basset Hounds by Ahram, Dina F, Grozdanic, Sinisa D, Kecova, Helga, Henkes, Arjen, Collin, Rob W J, Kuehn, Markus H

“…Several dog breeds are susceptible to developing primary angle closure glaucoma (PACG), which suggests a genetic basis for the disease. We have identified a…”
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Whole Exome Sequencing in Patients with the Cuticular Drusen Subtype of Age-Related Macular Degeneration by Duvvari, Maheswara R, van de Ven, Johannes P H, Geerlings, Maartje J, Saksens, Nicole T M, Bakker, Bjorn, Henkes, Arjen, Neveling, Kornelia, del Rosario, Marisol, Westra, Dineke, van den Heuvel, Lambertus P W J, Schick, Tina, Fauser, Sascha, Boon, Camiel J F, Hoyng, Carel B, de Jong, Eiko K, den Hollander, Anneke I

“…Age-related macular degeneration (AMD) is the leading cause of irreversible blindness in elderly people worldwide. Cuticular drusen (CD) is a clinical subtype…”
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P-cadherin mutations are associated with high basal Wnt activity and stemness in canine mammary tumor cell lines by Timmermans-Sprang, Elpetra, Collin, Rob, Henkes, Arjen, Philipsen, Meike, Mol, Jan A

“…To find underlying mutations causing highly-activated Wnt activity in mammary tumor cell lines associated with rounded morphology indicative of stemness/EMT…”
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Correction: P-cadherin mutations are associated with high basal Wnt activity and stemness in canine mammary tumor cell lines by Timmermans-Sprang, Elpetra, Collin, Rob W J, Henkes, Arjen, Philipsen, Meike, Mol, Jan A

“…[This corrects the article DOI: 10.18632/oncotarget.26873.]…”
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Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis by Ockeloen, Charlotte W., Khandelwal, Kriti D., Dreesen, Karoline, Ludwig, Kerstin U., Sullivan, Robert, van Rooij, Iris A.L.M., Thonissen, Michelle, Swinnen, Steven, Phan, Milien, Conte, Federica, Ishorst, Nina, Gilissen, Christian, Roa Fuentes, Laury, van de Vorst, Maartje, Henkes, Arjen, Steehouwer, Marloes, van Beusekom, Ellen, Bloemen, Marjon, Vankeirsbilck, Bruno, Bergé, Stefaan, Hens, Greet, Schoenaers, Joseph, Vander Poorten, Vincent, Roosenboom, Jasmien, Verdonck, An, Devriendt, Koen, Roeleveldt, Nel, Jhangiani, Shalini N., Vissers, Lisenka E.L.M., Lupski, James R., de Ligt, Joep, Von den Hoff, Johannes W., Pfundt, Rolph, Brunner, Han G., Zhou, Huiqing, Dixon, Jill, Mangold, Elisabeth, van Bokhoven, Hans, Dixon, Michael J., Kleefstra, Tjitske, Hoischen, Alexander, Carels, Carine E.L.

“…We aimed to identify a novel genetic cause of tooth agenesis (TA) and/or orofacial clefting (OFC) by combining whole-exome sequencing (WES) and targeted…”
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Genetic Spectrum of ABCA4 -Associated Retinal Degeneration in Poland by Tracewska, Anna M, Kocyła-Karczmarewicz, Beata, Rafalska, Agnieszka, Murawska, Joanna, Jakubaszko-Jablonska, Joanna, Rydzanicz, Małgorzata, Stawiński, Piotr, Ciara, Elżbieta, Khan, Muhammad Imran, Henkes, Arjen, Hoischen, Alexander, Gilissen, Christian, van de Vorst, Maartje, Cremers, Frans P M, Płoski, Rafał, Chrzanowska, Krystyna H

“…Mutations in retina-specific ATP-binding cassette transporter 4 ( ) are responsible for over 95% of cases of Stargardt disease (STGD), as well as a minor…”
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Screening of a Large Cohort of Leber Congenital Amaurosis and Retinitis Pigmentosa Patients Identifies Novel LCA5 Mutations and New Genotype-Phenotype Correlations by Mackay, Donna S., Borman, Arundhati Dev, Sui, Ruifang, van den Born, L. Ingeborgh, Berson, Eliot L., Ocaka, Louise A., Davidson, Alice E., Heckenlively, John R., Branham, Kari, Ren, Huanan, Lopez, Irma, Maria, Maleeha, Azam, Maleeha, Henkes, Arjen, Blokland, Ellen, Andreasson, Sten, de Baere, Elfride, Bennett, Jean, Chader, Gerald J., Berger, Wolfgang, Golovleva, Irina, Greenberg, Jacquie, den Hollander, Anneke I., Klaver, Caroline C.W., Klevering, B. Jeroen, Lorenz, Birgit, Preising, Markus N., Ramesar, Raj, Roberts, Lisa, Roepman, Ronald, Rohrschneider, Klaus, Wissinger], Bernd, Qamar, Raheel, Webster, Andrew R., Cremers, Frans P.M., Moore, Anthony T., Koenekoop, Robert K.

“…ABSTRACT This study was undertaken to investigate the prevalence of sequence variants in LCA5 in patients with Leber congenital amaurosis (LCA), early‐onset…”
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Screening of a Large Cohort of Leber Congenital Amaurosis and Retinitis Pigmentosa Patients Identifies Novel LCA5 Mutations and New Genotype-Phenotype Correlations by Mackay, Donna S., Borman, Arundhati Dev, Sui, Ruifang, van den Born, L. Ingeborgh, Berson, Eliot L., Ocaka, Louise A., Davidson, Alice E., Heckenlively, John R., Branham, Kari, Ren, Huanan, Lopez, Irma, Maria, Maleeha, Azam, Maleeha, Henkes, Arjen, Blokland, Ellen, Andreasson, [Sten, de Baere, Elfride, Bennett, Jean, Chader, Gerald J., Berger, Wolfgang, Golovleva, Irina, Greenberg, Jacquie, den Hollander, Anneke I., Klaver, Caroline C.W., Klevering, B. Jeroen, Lorenz, Birgit, Preising, Markus N., Ramesar, Raj, Roberts, Lisa, Roepman, Ronald, Rohrschneider, Klaus, Wissinger], Bernd, Qamar, Raheel, Webster, Andrew R., Cremers, Frans P.M., Moore, Anthony T., Koenekoop, Robert K.

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