Zobrazeno 1 - 10
of 228
pro vyhledávání: '"Thomas, Rosenberg"'
Autor:
Menachem Viktor Khamo Sarusie, Cecilia Rönnbäck, Cathrine Jespersgaard, Yeasmeen Ali, Søren Tvorup Christensen, Karen Brøndum-Nielsen, Kjeld Møllgård, Thomas Rosenberg, Lars Allan Larsen, Karen Grønskov
Alexander Disease is a rare leukodystrophy caused by gain-of-function variants in the gene encoding Glial Fibrillary Acidic Protein (GFAP), a major constituent of the intermediate filament of Astrocytes within the central nervous system. Currently, n
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4817deea9771e28fa67fc6f3bbc37808
https://doi.org/10.1101/2022.11.09.22282105
https://doi.org/10.1101/2022.11.09.22282105
Autor:
Malan Holm, Henrik Vorum, Benjamin R. Roos, Allie Simpson, Kaj Vilhelmsen, Thomas Rosenberg, John H. Fingert, Gudrid Andorsdottir, Elin Holm
Publikováno v:
J Glaucoma
Holm, E, Holm, M, Vilhelmsen, K, Andorsdottir, G, Vorum, H, Simpson, A, Roos, B R, Fingert, J H & Rosenberg, T 2022, ' Prevalence of Open-angle Glaucoma in the Faroese Population ', Journal of glaucoma, vol. 31, no. 2, pp. 72-78 . https://doi.org/10.1097/IJG.0000000000001921
Holm, E, Holm, M, Vilhelmsen, K, Andorsdottir, G, Vorum, H, Simpson, A, Roos, B R, Fingert, J H & Rosenberg, T 2022, ' Prevalence of Open-angle Glaucoma in the Faroese Population ', Journal of glaucoma, vol. 31, no. 2, pp. 72-78 . https://doi.org/10.1097/IJG.0000000000001921
PURPOSE: The Faroe Islands are home to 50,000 genetically isolated people in the North Atlantic. The prevalence of open-angle glaucoma (OAG) in the Faroese population is unknown. Consequently, we conducted a survey to determine the prevalence of OAG
Autor:
Bernd, Wissinger, Britta, Baumann, Elena, Buena-Atienza, Zeinab, Ravesh, Artur V, Cideciyan, Katarina, Stingl, Isabelle, Audo, Isabelle, Meunier, Beatrice, Bocquet, Elias I, Traboulsi, Alison J, Hardcastle, Jessica C, Gardner, Michel, Michaelides, Kari E, Branham, Thomas, Rosenberg, Sten, Andreasson, Hélène, Dollfus, David, Birch, Andrea L, Vincent, Loreto, Martorell, Jaume, Català Mora, Ulrich, Kellner, Klaus, Rüther, Birgit, Lorenz, Markus N, Preising, Emanuela, Manfredini, Yuri A, Zarate, Raymon, Vijzelaar, Eberhart, Zrenner, Samuel G, Jacobson, Susanne, Kohl
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America. 119(27)
Blue cone monochromacy (BCM) is an X-linked retinal disorder characterized by low vision, photoaversion, and poor color discrimination. BCM is due to the lack of long-wavelength-sensitive and middle-wavelength-sensitive cone photoreceptor function an
Autor:
Nicole Weisschuh, Anja K Mayer, Tim M Strom, Susanne Kohl, Nicola Glöckle, Max Schubach, Sten Andreasson, Antje Bernd, David G Birch, Christian P Hamel, John R Heckenlively, Samuel G Jacobson, Christina Kamme, Ulrich Kellner, Erdmute Kunstmann, Pietro Maffei, Charlotte M Reiff, Klaus Rohrschneider, Thomas Rosenberg, Günther Rudolph, Rita Vámos, Balázs Varsányi, Richard G Weleber, Bernd Wissinger
Publikováno v:
PLoS ONE, Vol 11, Iss 1, p e0145951 (2016)
Retinal dystrophies (RD) constitute a group of blinding diseases that are characterized by clinical variability and pronounced genetic heterogeneity. The different nonsyndromic and syndromic forms of RD can be attributed to mutations in more than 200
Externí odkaz:
https://doaj.org/article/3266adb14a06463ea339fc8ac073fe8e
Autor:
Maria Solaki, Britta Baumann, Peggy Reuter, Sten Andreasson, Isabelle Audo, Carmen Ayuso, Ghassan Balousha, Francesco Benedicenti, David Birch, Pierre Bitoun, Delphine Blain, Beatrice Bocquet, Kari Branham, Jaume Català‐Mora, Elfride De Baere, Helene Dollfus, Mohammed Falana, Roberto Giorda, Irina Golovleva, Irene Gottlob, John R. Heckenlively, Samuel G. Jacobson, Kaylie Jones, Herbert Jägle, Andreas R. Janecke, Ulrich Kellner, Petra Liskova, Birgit Lorenz, Loreto Martorell‐Sampol, André Messias, Isabelle Meunier, Fernanda Belga Ottoni Porto, Eleni Papageorgiou, Astrid S. Plomp, Thomy J. L. de Ravel, Charlotte M. Reiff, Agnes B. Renner, Thomas Rosenberg, Günther Rudolph, Roberto Salati, E. Cumhur Sener, Paul A. Sieving, Franco Stanzial, Elias I. Traboulsi, Stephen H. Tsang, Balázs Varsanyi, Richard G. Weleber, Ditta Zobor, Katarina Stingl, Bernd Wissinger, Susanne Kohl
Publikováno v:
HUMAN MUTATION
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Human Mutation, 43(7), 832-858. Wiley-Liss Inc.
Solaki, M, Baumann, B, Reuter, P, Andreasson, S, Audo, I, Ayuso, C, Balousha, G, Benedicenti, F, Birch, D, Bitoun, P, Blain, D, Bocquet, B, Branham, K, Català-Mora, J, de Baere, E, Dollfus, H, Falana, M, Giorda, R, Golovleva, I, Gottlob, I, Heckenlively, J R, Jacobson, S G, Jones, K, Jägle, H, Janecke, A R, Kellner, U, Liskova, P, Lorenz, B, Martorell-Sampol, L, Messias, A, Meunier, I, Belga Ottoni Porto, F, Papageorgiou, E, Plomp, A S, de Ravel, T J L, Reiff, C M, Renner, A B, Rosenberg, T, Rudolph, G N, Salati, R, Sener, E C, Sieving, P A, Stanzial, F, Traboulsi, E I, Tsang, S H, Varsanyi, B, Weleber, R G, Zobor, D, Stingl, K, Wissinger, B & Kohl, S 2022, ' Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia ', Human Mutation, vol. 43, no. 7, pp. 832-858 . https://doi.org/10.1002/humu.24371
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Human Mutation, 43(7), 832-858. Wiley-Liss Inc.
Solaki, M, Baumann, B, Reuter, P, Andreasson, S, Audo, I, Ayuso, C, Balousha, G, Benedicenti, F, Birch, D, Bitoun, P, Blain, D, Bocquet, B, Branham, K, Català-Mora, J, de Baere, E, Dollfus, H, Falana, M, Giorda, R, Golovleva, I, Gottlob, I, Heckenlively, J R, Jacobson, S G, Jones, K, Jägle, H, Janecke, A R, Kellner, U, Liskova, P, Lorenz, B, Martorell-Sampol, L, Messias, A, Meunier, I, Belga Ottoni Porto, F, Papageorgiou, E, Plomp, A S, de Ravel, T J L, Reiff, C M, Renner, A B, Rosenberg, T, Rudolph, G N, Salati, R, Sener, E C, Sieving, P A, Stanzial, F, Traboulsi, E I, Tsang, S H, Varsanyi, B, Weleber, R G, Zobor, D, Stingl, K, Wissinger, B & Kohl, S 2022, ' Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia ', Human Mutation, vol. 43, no. 7, pp. 832-858 . https://doi.org/10.1002/humu.24371
Achromatopsia (ACHM) is a congenital cone photoreceptor disorder characterized by impaired color discrimination, low visual acuity, photosensitivity, and nystagmus. To date, six genes have been associated with ACHM (CNGA3, CNGB3, GNAT2, PDE6C, PDE6H,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13cafbc43970561d8125d8a63b8e563d
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=21318
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=21318
Autor:
F. Lucy Raymond, Hanne Irene Jensen, Ambreen Kalhoro, Raquel S. Silva, Sabine Defoort-Dhellemmes, Keren J. Carss, Valentina Cipriani, Andrew R. Webster, Claire Marie Dhaenens, Bernard Puech, Gavin Arno, Thomas Rosenberg, Nikolas Pontikos, Anthony T. Moore, Veronica van Heyningen
Publikováno v:
Human Mutation. 40:578-587
The autosomal dominant progressive bifocal chorioretinal atrophy (PBCRA) disease locus has been mapped to chromosome 6q14–16.2 which overlaps the North Carolina Macular Dystrophy (NCMD) locus MCDR1. NCMD is a non‐progressive developmental macular
Autor:
Farah Arif, Hanne Jensen, Lisbeth Birk Møller, Mingyan Fang, Helene Gellert‐Kristensen, Karen Brøndum-Nielsen, Cathrine Jespersgaard, Thomas Rosenberg, Karen Grønskov, Zeynep Tümer, Mette Bertelsen
Publikováno v:
Genes
Volume 11
Issue 12
Genes, Vol 11, Iss 1517, p 1517 (2020)
Jespersgaard, C, Bertelsen, M, Arif, F, Gellert-Kristensen, H G, Fang, M, Jensen, H, Rosenberg, T, Tümer, Z, Møller, L B, Brøndum-Nielsen, K & Grønskov, K 2020, ' Bi-Allelic Pathogenic Variations in MERTK Including Deletions Are Associated with an Early Onset Progressive Form of Retinitis Pigmentosa ', Genes, vol. 11, no. 12, 1517 . https://doi.org/10.3390/genes11121517
Volume 11
Issue 12
Genes, Vol 11, Iss 1517, p 1517 (2020)
Jespersgaard, C, Bertelsen, M, Arif, F, Gellert-Kristensen, H G, Fang, M, Jensen, H, Rosenberg, T, Tümer, Z, Møller, L B, Brøndum-Nielsen, K & Grønskov, K 2020, ' Bi-Allelic Pathogenic Variations in MERTK Including Deletions Are Associated with an Early Onset Progressive Form of Retinitis Pigmentosa ', Genes, vol. 11, no. 12, 1517 . https://doi.org/10.3390/genes11121517
Bi-allelic pathogenic variants in MERTK cause retinitis pigmentosa (RP). Since deletions of more than one exon have been reported repeatedly for MERTK, CNV (copy number variation) analysis of next-generation sequencing (NGS) data has proven important
Autor:
Günther Rudolph, Susanne Kohl, Alberta A H J Thiadens, Fadi Nasser, Carmen Ayuso, Thomas Rosenberg, Bart P. Leroy, Ulrich Kellner, Bernd Wissinger, Camiel J. F. Boon, Eberhart Zrenner, Sten Andréasson, Susan M Downes, Isabelle Meunier, Laura Kuehlewein, Béatrice Bocquet, M. Dominik Fischer, Saskia Biskup, Nicole Weisschuh, Frank G. Holz, Ditta Zobor, Katarina Stingl, Sandro Banfi, Barbara Wilhelm, Antje S Bernd
Publikováno v:
JAMA Ophthalmol
JAMA Ophthalmology, 138(12), 1241-1250. AMER MEDICAL ASSOC
JAMA Ophthalmology, 138(12), 1241-1250. American Medical Association
JAMA ophthalmology, 138(12), 1241-1250. American Medical Association
JAMA Ophthalmology, 138(12), 1241-1250. AMER MEDICAL ASSOC
JAMA Ophthalmology, 138(12), 1241-1250. American Medical Association
JAMA ophthalmology, 138(12), 1241-1250. American Medical Association
Importance Treatment trials require sound knowledge on the natural course of disease. Objective To assess clinical features, genetic findings, and genotype-phenotype correlations in patients with retinitis pigmentosa (RP) associated with biallelic se
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::15ad2884cd4b7f1e061da43f3d8d842b
https://hdl.handle.net/1887/3184228
https://hdl.handle.net/1887/3184228
Autor:
Cathrine, Jespersgaard, Mette, Bertelsen, Farah, Arif, Helene Gry, Gellert-Kristensen, Mingyan, Fang, Hanne, Jensen, Thomas, Rosenberg, Zeynep, Tümer, Lisbeth Birk, Møller, Karen, Brøndum-Nielsen, Karen, Grønskov
Publikováno v:
Genes
Bi-allelic pathogenic variants in MERTK cause retinitis pigmentosa (RP). Since deletions of more than one exon have been reported repeatedly for MERTK, CNV (copy number variation) analysis of next-generation sequencing (NGS) data has proven important
Autor:
Susanne Kohl, Isabelle Audo, Bernd Wissinger, Britta Baumann, Julia Felden, Klaus Rüther, Martin McKibbin, Thomas Rosenberg, Ulrich Kellner, Isabelle Meunier, Béatrice Bocquet, Samuel G. Jacobson, Bernhard Jurklies, Line Kessel, Blanca Garcia-Sandoval, Birgit Lorenz, Katarina Stingl, Thomy de Ravel, Manir Ali, Carmen Ayuso, Ingele Casteels, Maria Vadalà
Achromatopsia (ACHM) is a hereditary cone photoreceptor disorder characterized by the inability to discriminate colors, nystagmus, photophobia, and low-visual acuity. Six genes have been associated with this rare autosomal recessively inherited disea
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::782e62f1eae6cf6ff41582275525763b
https://doi.org/10.1002/humu.23768
https://doi.org/10.1002/humu.23768