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Results: 1-13 |
Results: 13
Age-related maculopathy: its genetic basis
Authors: de Jong, PTVM Bergen, AAB Klaver, CCW Van Duijn, CM Assink, JM
Citation: Ptvm. De Jong et al., Age-related maculopathy: its genetic basis, EYE, 15, 2001, pp. 396-400
A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants
Authors: Boycott, KM Maybaum, TA Naylor, MJ Weleber, RG Robitaille, J Miyake, Y Bergen, AAB Pierpont, ME Pearce, WG Bech-Hansen, NT
Citation: Km. Boycott et al., A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants, HUM GENET, 108(2), 2001, pp. 91-97
Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America
Authors: Bassi, MT Bergen, AAB Bitoun, P Charles, SJ Clementi, M Gosselin, R Hurst, J Lewis, RA Lorenz, B Meitinger, T Messiaen, L Ramesar, RS Ballabio, A Schiaffino, MV
Citation: Mt. Bassi et al., Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America, HUM GENET, 108(1), 2001, pp. 51-54
Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, causeX-linked complete congenital stationary night blindness
Authors: Bech-Hansen, NT Naylor, MJ Maybaum, TA Sparkes, RL Koop, B Birch, DG Bergen, AAB Prinsen, CFM Polomeno, RC Gal, A Drack, AV Musarella, MA Jacobson, SG Young, RSL Weleber, RG
Citation: Nt. Bech-hansen et al., Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, causeX-linked complete congenital stationary night blindness, NAT GENET, 26(3), 2000, pp. 319-323
Mutations in ABCC6 cause pseudoxanthoma elasticum
Authors: Bergen, AAB Plomp, AS Schuurman, EJ Terry, S Breuning, M Dauwerse, H Swart, J Kool, M van Soest, S Baas, F ten Brink, JB de Jong, PTVM
Citation: Aab. Bergen et al., Mutations in ABCC6 cause pseudoxanthoma elasticum, NAT GENET, 25(2), 2000, pp. 228-231
Pseudoxanthoma elasticum maps to an 820-kb region of the p13.1 region of chromosome 16 (vol 62, pg 1, 1999)
Authors: Le Saux, O Urban, Z Goring, HHH Csiszar, K Pope, FM Richards, A Pasquali-Ronchetti, I Terry, S Bercovitch, L Lebwohl, MC Breuning, M van den Berg, P Kornet, L Doggett, N Ott, J de Jong, PTVM Bergen, AAB Boyd, CD
Citation: O. Le Saux et al., Pseudoxanthoma elasticum maps to an 820-kb region of the p13.1 region of chromosome 16 (vol 62, pg 1, 1999), GENOMICS, 63(3), 2000, pp. 439-439
Sorsby fundus dystrophy without a mutation in the TIMP-3 gene
Authors: Assink, JJM de Backer, E ten Brink, JB Kohno, T de Jong, PTVM Bergen, AAB Meire, F
Citation: Jjm. Assink et al., Sorsby fundus dystrophy without a mutation in the TIMP-3 gene, BR J OPHTH, 84(7), 2000, pp. 682-686
Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12)
Authors: den Hollander, AI ten Brink, JB de Kok, YJM van Soest, S van den Born, LI van Driel, MA van de Pol, DJR Payne, AM Bhattacharya, SS Kellner, U Hoyng, CB Westerveld, A Brunner, HG Bleeker-Wagemakers, EM Deutman, AF Heckenlively, JR Cremers, FPM Bergen, AAB
Citation: Ai. Den Hollander et al., Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12), NAT GENET, 23(2), 1999, pp. 217-221
Pseudoxanthoma elasticum maps to an 820-kb region of the p13.1 region of chromosome 16
Authors: Le Saux, O Urban, Z Goring, HHH Csiszar, K Pope, FM Richards, A Pasquali-Ronchetti, I Terry, S Bercovitch, L Lebwohl, MG Breuning, M van den Berg, P Kornet, L Ott, J de Jong, PTVM Bergen, AAB Boyd, CD
Citation: O. Le Saux et al., Pseudoxanthoma elasticum maps to an 820-kb region of the p13.1 region of chromosome 16, GENOMICS, 62(1), 1999, pp. 1-10
The mutation spectrum of the bestrophin protein - functional implications
Authors: Bakall, B Marknell, T Ingvast, S Koisti, MJ Sandgren, O Li, W Bergen, AAB Andreasson, S Rosenberg, T Petrukhin, K Wadelius, C
Citation: B. Bakall et al., The mutation spectrum of the bestrophin protein - functional implications, HUM GENET, 104(5), 1999, pp. 383-389
Integrated genetic and physical map of the 1q3 -> q32.1 region, encompassing the RP12 locus, the F13B and HF1 genes, and the EEF1AL11 and RPL30 pseudogenes
Authors: van Soest, S van Rossem, MJ Heckenlively, JR van den Born, LI de Meulemeester, TMAMO Vliex, S de Jong, PTVM Bleeker-Wagemakers, EM Westerveld, A Bergen, AAB
Citation: S. Van Soest et al., Integrated genetic and physical map of the 1q3 -> q32.1 region, encompassing the RP12 locus, the F13B and HF1 genes, and the EEF1AL11 and RPL30 pseudogenes, CYTOG C GEN, 84(1-2), 1999, pp. 22-27
Retinitis pigmentosa: Defined from a molecular point of view
Authors: Van Soest, S Westerveld, A De Jong, PTVM Bleeker-Wagemakers, EM Bergen, AAB
Citation: S. Van Soest et al., Retinitis pigmentosa: Defined from a molecular point of view, SURV OPHTHA, 43(4), 1999, pp. 321-334
The 2588G -> C mutation in the ABCR gene is a mild frequent founder mutation in the western European population and allows the classification of ABCRmutations in patients with Stargardt disease
Authors: Maugeri, A van Driel, MA van de Pol, DJR Klevering, BJ van Haren, FJJ Tijmes, N Bergen, AAB Rohrschneider, K Blankenagel, A Pinckers, AJLG Dahl, N Brunner, HG Deutman, AF Hoyng, CB Cremers, FPM
Citation: A. Maugeri et al., The 2588G -> C mutation in the ABCR gene is a mild frequent founder mutation in the western European population and allows the classification of ABCRmutations in patients with Stargardt disease, AM J HU GEN, 64(4), 1999, pp. 1024-1035
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