Výsledky vyhledávání - "E.M. Bleeker-Wagemakers"

Autor: E.M. Bleeker-Wagemakers, P.T.V.M. de Jong, Andries Westerveld, Arthur A.B. Bergen, S. van Soest

Publikováno v: Survey of Ophthalmology. 43:321-334

Retinitis pigmentosa (RP) denotes a group of hereditary retinal dystrophies, characterized by the early onset of night blindness followed by a progressive loss of the visual field. The primary defect underlying RP affects the function of the rod phot

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::9a3ae9352464ef3b32063304adcd38be
https://doi.org/10.1016/s0039-6257(98)00046-0

Zobrazit plný text záznamu

Integrated genetic and physical map of the 1q31-->q32.1 region, encompassing the RP12 locus, the F13B and HF1 genes, and the EEF1AL11 and RPL30 pseudogenes

Autor: L. I. van den Born, S. van Soest, Andries Westerveld, John R. Heckenlively, T.M.A.M.O. de Meulemeester, E.M. Bleeker-Wagemakers, P.T.V.M. de Jong, A. A. B. Bergen, S. Vliex, M.J. van Rossem

Publikováno v: Cytogenetics and cell genetics, 84(1-2), 22-27. S. Karger AG

The gene for autosomal recessive retinitis pigmentosa (RP12) with preserved para-arteriolar retinal pigment epithelium was previously mapped close to the F13B gene in region 1q31→q32.1. A 4-Mb yeast artificial chromosome contig spanning this interv

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::146af05721f660fdf0b0026cae1ca243
https://doi.org/10.1159/000015204

Zobrazit plný text záznamu

Sibs with Axenfeld-Rieger anomaly, hydrocephalus, and leptomeningeal calcifications: A new autosomal recessive syndrome?

Autor: E.M. Bleeker-Wagemakers, P. Crobach, U. Moog, Constance T.R.M. Schrander-Stumpel, Johan S.H. Vles

Publikováno v: American Journal of Medical Genetics. 78:263-266

The Axenfeld-Rieger anomaly is a defect of the anterior chamber of the eye affecting the angle structures. If accompanied by hypodontia, midface hypoplasia, and umbilical anomalies, the designation "Rieger syndrome" is appropriate. Both conditions ar

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::44b3eb14236ba499eaa80505aa169041
https://doi.org/10.1002/(sici)1096-8628(19980707)78:3<263::aid-ajmg11>3.0.co

Zobrazit plný text záznamu

Prevalence of mental retardation in patients with hereditary retinoblastoma

Autor: J. W. Koten, W. Den Otter, E.M. Bleeker-Wagemakers, Annette C. Moll, Saskia M. Imhof, K.E.W.P. Tan, Lex M. Bouter

Publikováno v: Moll, A C, Imhof, S M, Bleeker-Wagemakers, E M, den Otter, W, Bouter, L M, Koten, J W & Tan, K E W P 1997, ' Prevalence of mental retardation in patients with hereditary retinoblastoma ', Ophthalmic Genetics, vol. 18, no. 4, pp. 217-220 . https://doi.org/10.3109/13816819709041437
Ophthalmic Genetics, 18(4), 217-220. Informa Healthcare

Dear Editor, We evaluated the cumulative incidence of mental retardation in patients with hereditary retinoblastomai. Records of the national Dutch retinoblastoma register were used. This register is complete from 1945 through 1994. Cooperation of th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc1bf52be703adf53117820265f66bb5
https://doi.org/10.3109/13816819709041437

Zobrazit plný text záznamu

Molecular basis of choroideremia (CHM): Mutations involving the rab escort protein-1 (REP-1) gene

Autor: J.A.J.M. van den Hurk, T.J.R. van de Pol, E.M. Bleeker-Wagemakers, Alfred J. L. G. Pinckers, Marianne Schwartz, H.H. Ropers, Frans P.M. Cremers, Klaus Rüther, Liesbeth Bogerd, J.H.L.M. van Bokhoven, I.H. Pawlowitzki

Publikováno v: Human Mutation, 9, 2, pp. 110-117
Human Mutation, 9, 110-117

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 of different sizes have been found. Two females suffering from CHM were reported to have tr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9afc3dc24c075132724de286178db000
https://doi.org/10.1002/(sici)1098-1004(1997)9:2<110::aid-humu2>3.0.co

Zobrazit plný text záznamu

Clinical findings in obligate carriers of type I Usher syndrome

Autor: William J. Kimberling, Patrick L. M. Huygen, R.J.C. Admiraal, Cor W. R. J. Cremers, A. van Aarem, M. Wagenaar, E.M. Bleeker-Wagemakers, Alfred J. L. G. Pinckers, B. ter Rahe

Publikováno v: American Journal of Medical Genetics, 59, 3, pp. 375-379
American Journal of Medical Genetics, 59, pp. 375-379
American Journal of Medical Genetics, 59, 375-379

Seventeen obligate carriers from nine families with autosomal recessive Usher syndrome type I underwent otological, audiological, vestibular, and ophthalmological examination in order to identify possible manifestations of heterozygosity. Linkage stu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::faea39226e404e43f9c0d74eef9a02b0
https://hdl.handle.net/2066/21703

Zobrazit plný text záznamu

Kearns-Sayre syndrome with a phenocopy of choroideremia instead of pigmentary retinopathy

Autor: M.J. van Schooneveld, F. P. M. Cremers, M. de Visser, E.M. Bleeker-Wagemakers, M.S. van der Knaap, N. H. Herzberg, Pieter A. Bolhuis, R. Zwart

Publikováno v: Neurology, 43(1), 218-221. Lippincott Williams and Wilkins
Herzberg, N H, Van Schooneveld, M J, Bleeker-Wagemakers, E M, Zwart, R, Cremers, F P M, Van der Knaap, M S, Bolhuis, P A & De Visser, M 1993, ' Kearns-Sayre syndrome with a phenocopy of choroideremia instead of pigmentary retinopathy ', Neurology, vol. 43, no. 1, pp. 218-221 . https://doi.org/10.1212/wnl.43.1_part_1.218

Mitochondrial DNA (mtDNA) was deleted in a patient with Kearns-Sayre syndrome (KSS) presenting with a choroideremia-like fundus picture instead of pigmentary retinopathy. No evidence for X-linked choroideremia was present, and because of the strong a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::03fcc4bf5ae5b5fadb30c42e2838ac18
https://doi.org/10.1212/wnl.43.1_part_1.218

Zobrazit plný text záznamu

Contents, Vol. 62, 1993

Autor: S. Ohta, D. Simon, J.H. Kurth, C.N. Hahn, B.K. May, M.C. Kurth, I. Rodriguez de Ledesma, Y.D. Patel, C. Steinlein, B.D. Harris, J.P. Banga, S. Mazan, B. Weiffenbach, D.S. Gallagher, O.M. Garson, J.E. Womack, Z. Tümer, H. Nishi, H.M. Kozman, E.J.M. Schuurman, T. Sasazuki, N. Aoki, A. Pellicer, H.A. Phillips, A.A.B. Bergen, G.J.B. van Ommen, J.C. Mulley, J.A. Padilla, A. Kato, C. Jeanpierre, N. Roeckel, A.P. Monaco, C. Rudduck, D. Sheer, T.A. Jones, E. Austruy, C. Junien, R. Espinosa, A.M. Ryan, G.R. Sutherland, J.-P. Bachellerie, Ca. Westbrook, M. Schmid, H. Lerach, E. Dietzsch, A. Rabasco, D.F. Callen, L. Sottrup-Jensen, M. Cohen-Salmon, T. Kristensen, M M Le Beau, S. Hirosawa, A.M. McGregor, J.J. Pérez-Regadera, E. Bakker, P. Laslo, J.L. Fernández-García, L.-H. Qu, M.C. Wapenaar, M. Dixon, L.M. Duncan, R.H. Martin, R.I. Barnes, A. Kimura, E.M. Bleeker-Wagemakers, A.M. Bowcock, S.A. Whitmore, N. Tommerup, B.B. Knowles, J. Santos, J.L. Omdahl, W.L. Neuman, M. Guttenbach, A.N. Silahtaroglu, P.S. Barnett, M.-G. Mattéi, L. Iannuzzi, Y. Nakamura, E. Baker, P.J. Diergaarde, G.P. Di Meo, M. Martínez-Trancón, S. Toyota

Publikováno v: Cytogenetic and Genome Research. 62:I-IV

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::9ae4abe1cf905a35dcd56eba4e3fd294
https://doi.org/10.1159/000133469

Zobrazit plný text záznamu

Isolation of a candidate gene for Norrie disease by positional cloning

Autor: W. Berger, A. Meindl, T.J.R. van de Pol, F.P.M. Cremers, H.H. Ropers, C. Döerner, A. Monaco, A.A.B. Bergen, R. Lebo, M. Warburg, L. Zergollern, B. Lorenz, A. Gal, E.M. Bleeker-Wagemakers, T. Meitinger

Publikováno v: Nature genetics, 1(3), 199-203. Nature Publishing Group
Nature genetics, 2(1). Nature Publishing Group

The gene for Norrie disease, an X-linked disorder characterized by progressive atrophy of the eyes, mental disturbances and deafness, has been mapped to chromosome Xp11.4 close to DXS7 and the monoamine oxidase (MAO) genes. By subcloning a YAC with a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f71e555e085439ecaf331a3f50c04e70
https://doi.org/10.1038/ng0692-199

Zobrazit plný text záznamu

Carrier detection in X-linked retinitis pigmentosa by multipoint DNA analysis Problems due to genetic heterogeneity

Autor: E. J. M. Platje, Egbert Bakker, E.M. Bleeker-Wagemakers, I. Craig, A. A. B. Bergen, G.J.B. van Ommen

Publikováno v: Europe PubMed Central
Ophthalmic paediatrics and genetics, 12(2), 99-103. Aeolus Press

DNA diagnosis of X-linked retinitis pigmentosa (XLRP) is hampered by its genetic heterogeneity, while a clinical subdivision is almost impossible to make. So far, diagnostic services have been offered only to those families in which linkage to one RP

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c37b8b63d31112f620fdf56a6bee10b4
https://doi.org/10.3109/13816819109023681

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání