Search Results - "Cremers, F P"

RPGR Transcription Studies in Mouse and Human Tissues Reveal a Retina-Specific Isoform That Is Disrupted in a Patient With X-Linked Retinitis Pigmentosa by Kirschner, Renate, Rosenberg, Thomas, Schultz-Heienbrok, Robert, Lenzner, Steffen, Feil, Silke, Roepman, Ronald, Cremers, Frans P. M., Ropers, Hans-Hilger, Berger, Wolfgang

“…X-linked retinitis pigmentosa (XLRP) is a genetically heterogeneous group of progressive retinal degenerations. The disease process is initiated by premature…”
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A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome by KALAY, E, DE BROUWER, A. P. M, BRUNNER, H. G, KREMER, H, CAYLAN, R, NABUURS, S. B, WOLLNIK, B, KARAGUZEL, A, HEISTER, J. G. A. M, ERDOL, H, CREMERS, F. P. M, CREMERS, C. W. R. J

“…Homozygosity mapping and linkage analysis in a Turkish family with autosomal recessive prelingual sensorineural hearing loss revealed a 15-cM critical region…”
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Association Between X-Linked Mixed Deafness and Mutations in the POU Domain Gene POU3F4 by Yvette J. M. de Kok, van der Maarel, Silvère M., Bitner-Glindzicz, Maria, Huber, Irene, Monaco, Anthony P., Malcolm, Susan, Pembrey, Marcus E., Ropers, Hans-Hilger, Frans P. M. Cremers

“…Deafness with fixation of the stapes (DFN3) is the most frequent X-linked form of hearing impairment. The underlying gene has been localized to a 500-kilobase…”
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REP-2, a Rab escort protein encoded by the choroideremia-like gene by CREMERS, F. P. M, ARMSTRONG, S. A, SEABRA, M. C, BROWN, M. S, GOLDSTEIN, J. L

“…Rab escort proteins (REPs) bind to newly synthesized Rab proteins and remain bound during and after the attachment of a geranylgeranyl (GG) group by the…”
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Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT) by Haer-Wigman, Lonneke, Newman, Hadas, Leibu, Rina, Bax, Nathalie M, Baris, Hagit N, Rizel, Leah, Banin, Eyal, Massarweh, Amir, Roosing, Susanne, Lefeber, Dirk J, Zonneveld-Vrieling, Marijke N, Isakov, Ofer, Shomron, Noam, Sharon, Dror, Den Hollander, Anneke I, Hoyng, Carel B, Cremers, Frans P M, Ben-Yosef, Tamar

“…Retinitis pigmentosa (RP), the most common form of inherited retinal degeneration, is clinically and genetically heterogeneous and can appear as syndromic or…”
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Phenotypic variations in a family with retinal dystrophy as result of different mutations in the ABCR gene by KLEVERING, B. J, VAN DRIEL, M, DE POL, D. J. R. V, PINCKERS, A. J. L. G, CREMERS, F. P. M, HOYNG, C. B

“…To describe two phenotypic variations of autosomal recessive retinal dystrophy occurring in a consanguineous family in a pseudodominant pattern, resulting from…”
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A duplication/paracentric inversion associated with familial X-linked deafness (DFN3) suggests the presence of a regulatory element more than 400 kb upstream of the POU3F4 gene by de Kok, Y J, Merkx, G F, van der Maarel, S M, Huber, I, Malcolm, S, Ropers, H H, Cremers, F P

“…X-linked deafness with stapes fixation (DFN3) is caused by mutations in the POU3F4 gene at Xq21.1. By employing pulsed field gel electrophoresis (PFGE) we…”
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Autosomal Recessive Retinitis Pigmentosa and Cone-rod Dystrophy Caused by Splice Site Mutations in the Stargardt's Disease Gene ABCR by Cremers, Frans P. M., van de Pol, Dorien J. R., van Driel, Marc, den Hollander, Anneke I., van Haren, Frank J. J., Knoers, Nine V. A. M., Tijmes, Nel, Bergen, Arthur A. B., Rohrschneider, Klaus, Blankenagel, Anita, Pinckers, Alfred J. L. G., Deutman, August F., Hoyng, Carel B.

“…Ophthalmological and molecular genetic studies were performed in a consanguineous family with individuals showing either retinitis pigmentosa (RP) or cone-rod…”
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A mutation in the gamma actin 1 (ACTG1) gene causes autosomal dominant hearing loss (DFNA20/26) by van Wijk, E, Krieger, E, Kemperman, M H, De Leenheer, E M R, Huygen, P L M, Cremers, C W R J, Cremers, F P M, Kremer, H

“…Linkage analysis in a multigenerational family with autosomal dominant hearing loss yielded a chromosomal localisation of the underlying genetic defect in the…”
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Homozygosity mapping identifies genetic defects in four consanguineous families with retinal dystrophy from Pakistan by Khan, MI, Ajmal, M, Micheal, S, Azam, M, Hussain, A, Shahzad, A, Venselaar, H, Bokhari, H, de Wijs, IJ, Hoefsloot, LH, Waheed, NK, Collin, RWJ, den Hollander, AI, Qamar, R, Cremers, FPM

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Positional cloning of the gene for X-linked retinitis pigmentosa 2 by Berger, Wolfgang, Pinckers, Alfred J.L.G, Bergen, Arthur A.B, Ropers, H.-Hilger, Fundele, Reinald, Rosenberg, Thomas, Feil, Silke, Hinzmann, Bernd, Kirschner, Renate, van Duijnhoven, Gerard, Dong, Juan, Rosenthal, André, Cremers, Frans P.M, Schwahn, Uwe, Hemberger, Myriam, Lenzner, Steffen

“…X-linked retinitis pigmentosa (XLRP) results from mutations in at least two different loci, designated RP2 and RP3, located at Xp11.3 and Xp21.1, respectively…”
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Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis by Warman, Matthew L, Gong, Yaoqin, Krakow, Deborah, Marcelino, Jose, Wilkin, Douglas, Chitayat, David, Babul-Hirji, Riyana, Hudgins, Louanne, Cremers, Cor W, Cremers, Frans P.M, Brunner, Han G, Reinker, Kent, Rimoin, David L, Cohn, Daniel H, Goodman, Frances R, Reardon, William, Patton, Michael, Francomano, Clair A

“…The secreted polypeptide noggin (encoded by the Nog gene) binds and inactivates members of the transforming growth factor beta superfamily of signalling…”
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The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors by ROEPMAN, R, BERNOUD-HUBAC, N, SCHICK, D. E, MAUGERI, A, BERGER, W, ROPERS, H.-H, CREMERS, F. P. M, FERREIRA, P. A

“…Mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene cause X-linked retinitis pigmentosa type 3 (RP3), a severe, progressive and degenerative…”
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The 2588G→C Mutation in the ABCR Gene Is a Mild Frequent Founder Mutation in the Western European Population and Allows the Classification of ABCR Mutations in Patients with Stargardt Disease by Maugeri, Alessandra, van Driel, Marc A., van de Pol, Dorien J.R., Klevering, B. Jeroen, van Haren, Frank J.J., Tijmes, Nel, Bergen, Arthur A.B., Rohrschneider, Klaus, Blankenagel, Anita, Pinckers, Alfred J.L.G., Dahl, Niklas, Brunner, Han G., Deutman, August F., Hoyng, Carel B., Cremers, Frans P.M.

“…In 40 western European patients with Stargardt disease (STGD), we found 19 novel mutations in the retina-specific ATP-binding cassette transporter ( ABCR)…”
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Mutations in the peripherin/RDS gene are an important cause of multifocal pattern dystrophy simulating STGD1/fundus flavimaculatus by Boon, Camiel J F, van Schooneveld, Mary J, den Hollander, Anneke I, van Lith-Verhoeven, Janneke J C, Zonneveld-Vrieling, Marijke N, Theelen, Thomas, Cremers, Frans P M, Hoyng, Carel B, Klevering, B Jeroen

“…Aim:To describe the phenotype and to analyse the peripherin/RDS gene in 10 unrelated families with multifocal pattern dystrophy simulating Stargardt disease…”
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Four novel TMC1 (DFNB7/DFNB11) mutations in Turkish patients with congenital autosomal recessive nonsyndromic hearing loss by Kalay, E., Karaguzel, A., Caylan, R., Heister, A., Cremers, F.P.M., Cremers, C.W.R.J., Brunner, H.G., de Brouwer, A.P.M., Kremer, H.

“…Mutations in the transmembrane channel‐like gene 1 (TMC1) cause prelingual autosomal recessive (DFNB7/11) and postlingual progressive autosomal dominant…”
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Genetic fine mapping of the gene for recessive Stargardt disease by HOYNG, C. B, POPPELAARS, F, VAN DE POL, T. J. R, KREMER, H, PINCKERS, A. J. L. G, DEUTMAN, A. F, CREMERS, F. P. M

“…Stargardt disease (STGD) is one of the most frequent causes of macular degeneration in childhood. Linkage analysis in families with recessive STGD has recently…”
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Familial idiopathic premature ovarian failure: an overrated and underestimated genetic disease? by van Kasteren, Y.M., Hundscheid, R.D.L., Smits, A.P.T., Cremers, F.P.M., van Zonneveld, P., Braat, D.D.M.

“…The incidence of familial cases of premature ovarian failure varies from 4 to 31%. Recall bias may explain part of the variance. Thorough evaluation of alleged…”
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Positional Cloning of the Gene for X-Linked Retinitis Pigmentosa 3: Homology with the Guanine-Nucleotide-Exchange Factor RCC1 by Roepman, Ronald, van Duijnhoven, Gerard, Rosenberg, Thomas, Pinckers, Alfred J. L. G., Bleeker-Wagemakers, Liesbeth M., Bergen, Arthur A. B., Post, Jan, Beck, Alfred, Reinhardt, Richard, Ropers, Hans-Hilger, Cremers, Frans P. M., Berger, Wolfgang

“…The gene for retinitis pigmentosa 3 (RP3), the most frequent form of X-linked RP (XLRP), has been mapped previously to a chromosome interval of less than 1000…”
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cDNA cloning of component A of Rab geranylgeranyl transferase and demonstration of its role as a Rab escort protein by Andres, D A, Seabra, M C, Brown, M S, Armstrong, S A, Smeland, T E, Cremers, F P, Goldstein, J L

“…cDNA cloning of component A of rat Rab geranylgeranyl transferase confirms identity of the protein with the human choroideremia gene product and its…”
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