Zobrazeno 1 - 10
of 145
pro vyhledávání: '"E. A. Koller"'
Publikováno v:
64. Kongress der Deutschen Gesellschaft für Gynäkologie und Geburtshilfe e. V..
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3d367a332af723bc608cf4b2221207c6
https://doi.org/10.1055/s-0042-1756790
https://doi.org/10.1055/s-0042-1756790
Autor:
Maheswara R Duvvari, Codrut C Paun, Gabriëlle H S Buitendijk, Nicole T M Saksens, Elena B Volokhina, Tina Ristau, Frederieke E Schoenmaker-Koller, Johannes P H van de Ven, Joannes M M Groenewoud, Lambertus P W J van den Heuvel, Albert Hofman, Sascha Fauser, André G Uitterlinden, Caroline C W Klaver, Carel B Hoyng, Eiko K de Jong, Anneke I den Hollander
Publikováno v:
PLoS ONE, Vol 9, Iss 4, p e94165 (2014)
Age-related macular degeneration (AMD) is a progressive retinal disorder affecting over 33 million people worldwide. Genome-wide association studies (GWASs) for AMD identified common variants at 19 loci accounting for 15-65% of the heritability and i
Externí odkaz:
https://doaj.org/article/195db82bfe884c57936a5cceeb697ab7
Autor:
Humaira Ayub, Shazia Micheal, Farah Akhtar, Muhammad Imran Khan, Shaheena Bashir, Nadia K Waheed, Mahmood Ali, Frederieke E Schoenmaker-Koller, Sobia Shafique, Raheel Qamar, Anneke I den Hollander
Publikováno v:
PLoS ONE, Vol 9, Iss 8, p e105023 (2014)
Recently an association was observed between alleles in genes of the unfolded protein response pathway and primary open angle glaucoma (POAG). The goal of the current study is to investigate the role of these two genes, protein disulphide isomerase A
Externí odkaz:
https://doaj.org/article/b57d16150a6e47ad9cc962b3ea790c6b
Autor:
Frederieke E. Schoenmaker-Koller, Shazia Micheal, Anneke I. den Hollander, Carel B. Hoyng, Barend F. Hogewind
Publikováno v:
Ophthalmic Genetics, 36, 4, pp. 299-302
Ophthalmic Genetics, 36, 299-302
Ophthalmic Genetics, 36, 299-302
Item does not contain fulltext BACKGROUND: To perform an independent replication study to determine whether genetic variants in MYOC, NR3C1 and FKBP5 are involved in steroid-induced ocular hypertension. MATERIALS AND METHODS: A retrospective case-con
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::434180eab7d6c19b55073ebf9443d22d
https://doi.org/10.3109/13816810.2013.879598
https://doi.org/10.3109/13816810.2013.879598
Autor:
Hannes Helgason, Asbjorg Geirsdottir, Unnur Thorsteinsdottir, Haraldur Sigurdsson, Yaojun Song, Yaou Duan, G. Bragi Walters, Johannes P. H. van de Ven, Hongrong Luo, Tina Ristau, Frederieke E. Schoenmaker-Koller, Kang Zhang, Carel B. Hoyng, Ling Zhao, Paul S. Bernstein, Lambertus A. Kiemeney, Shirrina Patel, Camiel J. F. Boon, Sascha Fauser, Hreinn Stefansson, Olafur T. Magnusson, Gudleif Helgadottir, Gisli Masson, Kari Stefansson, Patrick Sulem, Ingileif Jonsdottir, Michelle Pei, Henry Ferreyra, Einar Stefánsson, Fridbert Jonasson, Thorunn Rafnar, Sandra Liakopoulos, Daniel F. Gudbjartsson, Anneke I. den Hollander, Gudmar Thorleifsson, Maheswara R Duvvari, Augustine Kong
Publikováno v:
Nature Genetics, 45, 1371-4
Nature Genetics, 45, 11, pp. 1371-4
Nature Genetics, 45(11), 1371-U153
Nature Genetics, 45, 11, pp. 1371-4
Nature Genetics, 45(11), 1371-U153
Contains fulltext : 125275.pdf (Publisher’s version ) (Closed access) Through whole-genome sequencing of 2,230 Icelanders, we detected a rare nonsynonymous SNP (minor allele frequency = 0.55%) in the C3 gene encoding a p.Lys155Gln substitution in c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a384c0fcdb1e74be68da544ed189ccc
https://doi.org/10.1038/ng.2740
https://doi.org/10.1038/ng.2740
Autor:
Bart P. Leroy, Frederieke E. Schoenmaker-Koller, Jeremy R. Charette, Camiel J. F. Boon, Tamara W van Moorsel, Lan-Ying Shi, Lucy B. Rowe, Mark P. Krebs, Kornelia Neveling, Frans P.M. Cremers, Sophie Walraedt, Anneke I. den Hollander, Nicole T.M. Saksens, Sleiman Abu-Ltaif, Minzhong Yu, Neal S. Peachey, Wanda L. Hicks, Francesca Simonelli, Gayle B. Collin, Ronald Roepman, Sandro Banfi, Carel B. Hoyng, Patsy M. Nishina, Stef J.F. Letteboer, Elfride De Baere
Publikováno v:
Nature Genetics, 48(2), 144-151
Nature Genetics, 48, 144-51
Nature genetics
Nature Genetics, 48, 2, pp. 144-51
Nature Genetics
Nature Genetics, 48, 144-51
Nature genetics
Nature Genetics, 48, 2, pp. 144-51
Nature Genetics
Contains fulltext : 162145.pdf (Publisher’s version ) (Closed access) Butterfly-shaped pigment dystrophy is an eye disease characterized by lesions in the macula that can resemble the wings of a butterfly. Here we report the identification of heter
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51e31eb2b385ed4e2796cd636d6353d8
http://hdl.handle.net/1887/113221
http://hdl.handle.net/1887/113221
Publikováno v:
Mycopathologia. 164:201-215
This study sample and identify species of fungi on withered vegetation in the spring 'grazing corridor' from infields to Narthecium bogs for a sheep herd almost chronically vulnerable to photo- toxic disease. Hepatogen photosensitizing disorders like
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d45b3b11d71f1107be07443029834d7
https://doi.org/10.1007/s11046-007-9045-4
https://doi.org/10.1007/s11046-007-9045-4
Publikováno v:
Food Chemistry. 99:521-524
Agaritine (l-glutamic acid, 5-(2-(4-(hydroxymethyl)phenyl)hydrazide)) was identified and quantified in spores of Agaricus bisporus by high resolution liquid chromatography with mass spectrometric detection using negative electrospray ionisation. The
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e77d5b51689f08431a58c7347a03d39c
https://doi.org/10.1016/j.foodchem.2005.08.015
https://doi.org/10.1016/j.foodchem.2005.08.015
Publikováno v:
Mycologist. 18:114-117
Summary Ibotenic acid (α-amino-3-hydroxy-5-isoxazole acetic acid) was separated from spores and caps from Amanita muscaria by reversed phase high performance liquid chromatography and identified by flow injection analysis with mass spectrometric det
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::030cd2adc0eafe4e797b3e37f96b4f67
https://doi.org/10.1017/s0269915x04003039
https://doi.org/10.1017/s0269915x04003039
Publikováno v:
Mycologia. 94:752-756
This is the first report quantifying the orellanine content in basidiospores. The toxin content and tissue distribution of orellanine were determined from Cortinarius orellanus (Fr.) Fr. and Cortinarius rubellus Cooke. Basidiospores, the basidiocarp,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c95ff6b5e9bf2f5d3f8e968adde34444
https://doi.org/10.1080/15572536.2003.11833168
https://doi.org/10.1080/15572536.2003.11833168