Search Results - "CREMERS, FPM"

Molecular basis of choroideremia (CHM): Mutations involving the rab escort protein-1 (REP-1) gene by van den Hurk, JAJM, Schwartz, M, van Bokhoven, H, van de Pol, TJR, Bogerd, L, Pinckers, AJLG, Bleeker-Wagemakers, EM, Pawlowitzki, IH, Rüther, K, Ropers, H-H, Cremers, FPM

“…Choroideremia (CHM) is an X‐linked recessive eye disease that results from mutations involving the Rab escort protein‐1 (REP‐1) gene. In 18 patients deletions…”
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Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides by Sangermano, Riccardo, Garanto, Alejandro, Khan, Mubeen, Runhart, Esmee H., Bauwens, Miriam, Bax, Nathalie M., van den Born, L. Ingeborgh, Khan, Muhammad Imran, Cornelis, Stéphanie S., Verheij, Joke B. G. M., Pott, Jan-Willem R., Thiadens, Alberta A. H. J., Klaver, Caroline C. W., Puech, Bernard, Meunier, Isabelle, Naessens, Sarah, Arno, Gavin, Fakin, Ana, Carss, Keren J., Raymond, F. Lucy, Webster, Andrew R., Dhaenens, Claire-Marie, Stöhr, Heidi, Grassmann, Felix, Weber, Bernhard H. F., Hoyng, Carel B., De Baere, Elfride, Albert, Silvia, Collin, Rob W. J., Cremers, Frans P. M.

“…Purpose Using exome sequencing, the underlying variants in many persons with autosomal recessive diseases remain undetected. We explored autosomal recessive…”
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Cost‐effective molecular inversion probe‐based ABCA4 sequencing reveals deep‐intronic variants in Stargardt disease by Khan, Mubeen, Cornelis, Stéphanie S., Khan, Muhammad Imran, Elmelik, Duaa, Manders, Eline, Bakker, Sem, Derks, Ronny, Neveling, Kornelia, Vorst, Maartje, Gilissen, Christian, Meunier, Isabelle, Defoort, Sabine, Puech, Bernard, Devos, Aurore, Schulz, Heidi L., Stöhr, Heidi, Grassmann, Felix, Weber, Bernhard H. F., Dhaenens, Claire‐Marie, Cremers, Frans P. M.

“…Purpose Stargardt disease (STGD1) is caused by biallelic mutations in ABCA4, but many patients are genetically unsolved due to insensitive mutation‐scanning…”
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Mutations in the CEP290 ( NPHP6) Gene Are a Frequent Cause of Leber Congenital Amaurosis by 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.

“…Leber congenital amaurosis (LCA) is one of the main causes of childhood blindness. To date, mutations in eight genes have been described, which together…”
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Identification of a 2 Mb Human Ortholog of Drosophila eyes shut/spacemaker that Is Mutated in Patients with Retinitis Pigmentosa by Collin, Rob W.J., Littink, Karin W., Klevering, B. Jeroen, van den Born, L. Ingeborgh, Koenekoop, Robert K., Zonneveld, Marijke N., Blokland, Ellen A.W., Strom, Tim M., Hoyng, Carel B., den Hollander, Anneke I., Cremers, Frans P.M.

“…In patients with autosomal-recessive retinitis pigmentosa (arRP), homozygosity mapping was performed for detection of regions harboring genes that might be…”
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Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray by Ávila-Fernández, Almudena, Cantalapiedra, Diego, Aller, Elena, Vallespín, Elena, Aguirre-Lambán, Jana, Blanco-Kelly, Fiona, Corton, M, Riveiro-Álvarez, Rosa, Allikmets, Rando, Trujillo-Tiebas, María José, Millán, José M, Cremers, Frans P M, Ayuso, Carmen

“…Retinitis pigmentosa (RP) is a genetically heterogeneous disorder characterized by progressive loss of vision. The aim of this study was to identify the…”
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Mutations in IMPG2, Encoding Interphotoreceptor Matrix Proteoglycan 2, Cause Autosomal-Recessive Retinitis Pigmentosa by Bandah-Rozenfeld, Dikla, Collin, Rob W.J., Banin, Eyal, Ingeborgh van den Born, L., Coene, Karlien L.M., Siemiatkowska, Anna M., Zelinger, Lina, Khan, Muhammad I., Lefeber, Dirk J., Erdinest, Inbar, Testa, Francesco, Simonelli, Francesca, Voesenek, Krysta, Blokland, Ellen A.W., Strom, Tim M., Klaver, Caroline C.W., Qamar, Raheel, Banfi, Sandro, Cremers, Frans P.M., Sharon, Dror, den Hollander, Anneke I.

“…Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal diseases caused by progressive degeneration of the photoreceptor cells. Using…”
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The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1 by van Wijk, Erwin, van der Zwaag, Bert, Peters, Theo, Zimmermann, Ulrike, te Brinke, Heleen, Kersten, Ferry F.J., Märker, Tina, Aller, Elena, Hoefsloot, Lies H., Cremers, Cor W.R.J., Cremers, Frans P.M., Wolfrum, Uwe, Knipper, Marlies, Roepman, Ronald, Kremer, Hannie

“…Mutations in the DFNB31 gene encoding the PDZ scaffold protein whirlin are causative for hearing loss in man and mouse. Whirlin is known to be essential for…”
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Genotyping Microarray (Disease Chip) for Leber Congenital Amaurosis: Detection of Modifier Alleles by Zernant, Jana, Kulm, Maigi, Dharmaraj, Sharola, den Hollander, Anneke I, Perrault, Isabelle, Preising, Markus N, Lorenz, Birgit, Kaplan, Josseline, Cremers, Frans P. M, Maumenee, Irene, Koenekoop, Robert K, Allikmets, Rando

“…Leber congenital amaurosis (LCA) is an early-onset inherited disorder of childhood blindness characterized by visual impairment noted soon after birth…”
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Identification of 51 Novel Exons of the Usher Syndrome Type 2A (USH2A) Gene That Encode Multiple Conserved Functional Domains and That Are Mutated in Patients with Usher Syndrome Type II by van Wijk, Erwin, Pennings, Ronald J.E., te Brinke, Heleen, Claassen, Annemarie, Yntema, Helger G., Hoefsloot, Lies H., Cremers, Frans P.M., Cremers, Cor. W.R.J., Kremer, Hannie

“…The USH2A gene is mutated in patients with Usher syndrome type IIa, which is the most common subtype of Usher syndrome and is characterized by hearing loss and…”
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Mutations in GRM6 Cause Autosomal Recessive Congenital Stationary Night Blindness with a Distinctive Scotopic 15-Hz Flicker Electroretinogram by Zeitz, Christina, van Genderen, Maria, Neidhardt, John, Luhmann, Ulrich F. O, Hoeben, Frank, Forster, Ursula, Wycisk, Katharina, Matyas, Gabor, Hoyng, Carel B, Riemslag, Frans, Meire, Francoise, Cremers, Frans P. M, Berger, Wolfgang

“…Congenital stationary night blindness (CSNB) is a group of nonprogressive retinal disorders characterized by impaired night vision that occurs in autosomal…”
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CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia by KOHL, Susanne, VARSANYI, Balazs, JURKLIES, Bernhard, FARKAS, Agnes, ANDREASSON, Sten, WELEBER, Richard G, JACOBSON, Samuel G, RUDOLPH, Günther, CASTELLAN, Claudio, DOLLFUS, Helene, LEGIUS, Eric, ANASTASI, Mario, ANTUNES, Gesine Abadin, BITOUN, Pierre, LEV, Dorit, SIEVING, Paul A, MUNIER, Francis L, ZRENNER, Eberhart, SHARPE, Lindsay T, CREMERS, Frans P. M, WISSINGER, Bernd, BAUMANN, Britta, HOYNG, Carel B, JÄGLE, Herbert, ROSENBERG, Thomas, KELLNER, Ulrich, LORENZ, Birgit, SALATI, Roberto

“…Achromatopsia is a congenital, autosomal recessively inherited disorder characterized by a lack of color discrimination, low visual acuity (<0.2), photophobia,…”
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Ocular and extra-ocular features of patients with Leber congenital amaurosis and mutations in CEP290 by Yzer, Suzanne, Hollander, Anneke I den, Lopez, Irma, Pott, Jan-Willem R, de Faber, Jan Tjeerd H N, Cremers, Frans P M, Koenekoop, Robert K, van den Born, L Ingeborgh

“…This study investigated the centrosomal protein, 290-KD (CEP290) associated genotype and ocular and extra-ocular phenotype in 18 patients with Leber congenital…”
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Genotyping microarray (gene chip) for the ABCR (ABCA4) gene by Jaakson, K., Zernant, J., Külm, M., Hutchinson, A., Tonisson, N., Glavač, D., Ravnik‐Glavač, M., Hawlina, M., Meltzer, M.R., Caruso, R.C., Testa, F., Maugeri, A., Hoyng, C.B., Gouras, P., Simonelli, F., Lewis, R.A., Lupski, J.R., Cremers, F.P.M., Allikmets, R.

“…Genetic variation in the ABCR (ABCA4) gene has been associated with five distinct retinal phenotypes, including Stargardt disease/fundus flavimaculatus…”
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CNGA3 Mutations in Hereditary Cone Photoreceptor Disorders by Wissinger, Bernd, Gamer, Daphne, Jägle, Herbert, Giorda, Roberto, Marx, Tim, Mayer, Simone, Tippmann, Sabine, Broghammer, Martina, Jurklies, Bernhard, Rosenberg, Thomas, Jacobson, Samuel G., Sener, E. Cumhur, Tatlipinar, Sinan, Hoyng, Carel B., Castellan, Claudio, Bitoun, Pierre, Andreasson, Sten, Rudolph, Günter, Kellner, Ulrich, Lorenz, Birgit, Wolff, Gerhard, Verellen-Dumoulin, Christine, Schwartz, Marianne, Cremers, Frans P.M., Apfelstedt-Sylla, Eckart, Zrenner, Eberhart, Salati, Roberto, Sharpe, Lindsay T., Kohl, Susanne

“…We recently showed that mutations in the CNGA3 gene encoding the α-subunit of the cone photoreceptor cGMP-gated channel cause autosomal recessive complete…”
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Interaction of Nephrocystin-4 and RPGRIP1 Is Disrupted by Nephronophthisis or Leber Congenital Amaurosis-Associated Mutations by Ronald Roepman, Stef J. F. Letteboer, Heleen H. Arts, Sylvia E. C. van Beersum, Xinrong Lu, Krieger, Elmar, Ferreira, Paulo A., Frans P. M. Cremers, Nathans, Jeremy

“…RPGR-interacting protein 1 (RPGRIP1) is a key component of cone and rod photoreceptor cells, where it interacts with RPGR (retinitis pigmentosa GTPase…”
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Mutations in the ABCA4 ( ABCR) Gene Are the Major Cause of Autosomal Recessive Cone-Rod Dystrophy by Maugeri, Alessandra, Klevering, B. Jeroen, Rohrschneider, Klaus, Blankenagel, Anita, Brunner, Han G., Deutman, August F., Hoyng, Carel B., Cremers, Frans P.M.

“…The photoreceptor cell–specific ATP-binding cassette transporter gene ( ABCA4; previously denoted “ ABCR”) is mutated in most patients with autosomal recessive…”
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Leber Congenital Amaurosis and Retinitis Pigmentosa with Coats-like Exudative Vasculopathy Are Associated with Mutations in the Crumbs Homologue 1 ( CRB1) Gene by Hollander, Anneke I. den, Heckenlively, John R., van den Born, L. Ingeborgh, de Kok, Yvette J.M., van der Velde-Visser, Saskia D., Kellner, Ulrich, Jurklies, Bernhard, van Schooneveld, Mary J., Blankenagel, Anita, Rohrschneider, Klaus, Wissinger, Bernd, Cruysberg, Johan R.M., Deutman, August F., Brunner, Han G., Apfelstedt-Sylla, Eckart, Hoyng, Carel B., Cremers, Frans P.M.

“…Mutations in the crumbs homologue 1 ( CRB1) gene cause a specific form of retinitis pigmentosa (RP) that is designated “RP12” and is characterized by a…”
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CRB1 mutation spectrum in inherited retinal dystrophies by den Hollander, Anneke I., Davis, Jason, van der Velde-Visser, Saskia D., Zonneveld, Marijke N., Pierrottet, Chiara O., Koenekoop, Robert K., Kellner, Ulrich, van den Born, L. Ingeborgh, Heckenlively, John R., Hoyng, Carel B., Handford, Penny A., Roepman, Ronald, Cremers, Frans P.M.

“…Mutations in the Crumbs homologue 1 (CRB1) gene have been reported in patients with a variety of autosomal recessive retinal dystrophies, including retinitis…”
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Molecular genetics of Leber congenital amaurosis by Cremers, Frans P. M., van den Hurk, José A. J. M., den Hollander, Anneke I.

“…Leber congenital amaurosis (LCA) is the most common inherited cause of blindness in childhood and is characterised by a severe retinal dystrophy before the age…”
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