Zobrazeno 1 - 10
of 61
pro vyhledávání: '"Hester Y. Kroes"'
Autor:
Lonneke Haer-Wigman, Amber den Ouden, Maria M. van Genderen, Hester Y. Kroes, Joke Verheij, Dzenita Smailhodzic, Attje S. Hoekstra, Raymon Vijzelaar, Jan Blom, Ronny Derks, Menno Tjon-Pon-Fong, Helger G. Yntema, Marcel R. Nelen, Lisenka E.L.M. Vissers, Dorien Lugtenberg, Kornelia Neveling
Publikováno v:
npj Genomic Medicine, Vol 7, Iss 1, Pp 1-10 (2022)
Abstract Pathogenic variants in the OPN1LW/OPN1MW gene cluster are causal for a range of mild to severe visual impairments with color deficiencies. The widely utilized short-read next-generation sequencing (NGS) is inappropriate for the analysis of t
Externí odkaz:
https://doaj.org/article/c712caf6e25c497db49ddbb9856c8f48
Autor:
Janine Reurink, Nicole Weisschuh, Alejandro Garanto, Adrian Dockery, L. Ingeborgh van den Born, Isabelle Fajardy, Lonneke Haer-Wigman, Susanne Kohl, Bernd Wissinger, G. Jane Farrar, Tamar Ben-Yosef, Fatma Kivrak Pfiffner, Wolfgang Berger, Marianna E. Weener, Lubica Dudakova, Petra Liskova, Dror Sharon, Manar Salameh, Ashley Offenheim, Elise Heon, Giorgia Girotto, Paolo Gasparini, Anna Morgan, Arthur A. Bergen, Jacoline B. ten Brink, Caroline C.W. Klaver, Lisbeth Tranebjærg, Nanna D. Rendtorff, Sascha Vermeer, Jeroen J. Smits, Ronald J.E. Pennings, Marco Aben, Jaap Oostrik, Galuh D.N. Astuti, Jordi Corominas Galbany, Hester Y. Kroes, Milan Phan, Wendy A.G. van Zelst-Stams, Alberta A.H.J. Thiadens, Joke B.G.M. Verheij, Mary J. van Schooneveld, Suzanne E. de Bruijn, Catherina H.Z. Li, Carel B. Hoyng, Christian Gilissen, Lisenka E.L.M. Vissers, Frans P.M. Cremers, Hannie Kremer, Erwin van Wijk, Susanne Roosing
Publikováno v:
HGG Advances, Vol 4, Iss 2, Pp 100181- (2023)
Summary: A significant number of individuals with a rare disorder such as Usher syndrome (USH) and (non-)syndromic autosomal recessive retinitis pigmentosa (arRP) remain genetically unexplained. Therefore, we assessed subjects suspected of USH2A-asso
Externí odkaz:
https://doaj.org/article/3a1d6bbbc0b84a3f9409fc1710e756ce
Publikováno v:
Clinical Case Reports, Vol 10, Iss 4, Pp n/a-n/a (2022)
Abstract This study aimed to describe the surgical challenges, management, and value of intraoperative optical coherence tomography in a case of a bilateral Descemet Stripping Automated Endothelial Keratoplasty corneal transplantation at 17 weeks of
Externí odkaz:
https://doaj.org/article/8d6acaa3de0c4469bda7d20759cadff1
Autor:
Irene Vázquez-Domínguez, Lonneke Duijkers, Zeinab Fadaie, Eef C. W. Alaerds, Merel A. Post, Edwin M. van Oosten, Luke O’Gorman, Michael Kwint, Louet Koolen, Anita D. M. Hoogendoorn, Hester Y. Kroes, Christian Gilissen, Frans P. M. Cremers, Rob W. J. Collin, Susanne Roosing, Alejandro Garanto
Publikováno v:
Cells, Vol 11, Iss 22, p 3640 (2022)
Pathogenic variants in RPE65 lead to retinal diseases, causing a vision impairment. In this work, we investigated the pathomechanism behind the frequent RPE65 variant, c.11+5G>A. Previous in silico predictions classified this change as a splice varia
Externí odkaz:
https://doaj.org/article/7ee75d27cc704aa096038f239dd31708
Autor:
Irene Vázquez-Domínguez, Michael Kwint, Hester Y Kroes, Silvia Albert, Luke O'Gorman, Christian Gilissen, Frans P.M. Cremers, Rob W.J. Collin, Susanne Roosing, Alejandro Garanto
Publikováno v:
Stem Cell Research, Vol 60, Iss , Pp 102689- (2022)
Leber congenital amaurosis (LCA) can be caused by mutations in more than 20 different genes. One of these, RPE65, encodes a protein essential for the visual cycle that is expressed in retinal pigment epithelium cells. In this work, we describe the ge
Externí odkaz:
https://doaj.org/article/79f1ead9de7a44e5a2633015f2c93efa
Autor:
Doriana Misceo, Lisa Lirussi, Petter Strømme, Dulika Sumathipala, Andrea Guerin, Nicole I Wolf, Andres Server, Maria Stensland, Bjørn Dalhus, Aslıhan Tolun, Hester Y Kroes, Tuula A Nyman, Hilde L Nilsen, Eirik Frengen
Publikováno v:
Brain.
RNA polymerase I transcribes ribosomal DNA to produce precursor 47S rRNA. Post-transcriptional processing of this rRNA generates mature 28S, 18S and 5.8S rRNAs, which form the ribosomes, together with 5S rRNA, assembly factors and ribosomal proteins.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a0d36eeef44cfdc5cf1ea462a4e90e15
https://doi.org/10.1093/brain/awad086
https://doi.org/10.1093/brain/awad086
To describe the surgical challenges, management, and value of intra-operative optical coherence tomography in a case of a bilateral Descemet Stripping Automated Endothelial Keratoplasty corneal transplantation at 17 weeks of age for the treatment of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e3194356e4c603aa1d99f8f41f213fb4
https://doi.org/10.22541/au.163574347.70519384/v1
https://doi.org/10.22541/au.163574347.70519384/v1
Autor:
Christopher Cunniff, Laurence Faivre, Simon E. Fisher, Hester Y. Kroes, Catherine Au, Rolph Pfundt, Jacqueline Leonard, Ahmad N. Abou Tayoun, Kosuke Izumi, Katherine Bergstrom, Deepali N. Shinde, Pelagia Deriziotis, Saskia M. Maas, Marcello Niceta, Antonio Vitobello, Sha Tang, Hanka Venselaar, Christophe Philippe, Christian Gilissen, Tjitske Kleefstra, Marco Tartaglia, Helen V. Firth, Nobuhiko Okamoto, Laurens Wiel, Lot Snijders Blok, Naomichi Matsumoto, Maria Lisa Dentici, Han G. Brunner, Samuel W. Baker, Susan Tomkins, Augusta M. A. Lachmeijer, Simon Bodek, Alejandro D. Iglesias, Monica H. Wojcik, Katrin Õunap, Noriko Miyake, Koen L.I. van Gassen, Zöe Powis
Publikováno v:
The American Journal of Human Genetics
Web of Science
American Journal of Human Genetics, 105(2), 403. Cell Press
American journal of human genetics, 105(2), 403-412. Cell Press
American Journal of Human Genetics, 105, 2, pp. 403-412
American Journal of Human Genetics, 105, 403-412
American Journal of Human Genetics, 105(2), 403-412. Cell Press
Web of Science
American Journal of Human Genetics, 105(2), 403. Cell Press
American journal of human genetics, 105(2), 403-412. Cell Press
American Journal of Human Genetics, 105, 2, pp. 403-412
American Journal of Human Genetics, 105, 403-412
American Journal of Human Genetics, 105(2), 403-412. Cell Press
POU3F3, also referred to as Brain-1, is a well-known transcription factor involved in the development of the central nervous system, but it has not previously been associated with a neurodevelopmental disorder. Here, we report the identification of 1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ed6304c1ad5256438699cdf65a961e4
https://cris.maastrichtuniversity.nl/en/publications/b870be46-a808-4eeb-9710-319fc000294b
https://cris.maastrichtuniversity.nl/en/publications/b870be46-a808-4eeb-9710-319fc000294b
Autor:
Elysa J. Marco, Heather C Mefford, Stacey McGee, Christèle Dubourg, Edmund Cauley, Randi J Hagerman, Maria J. Nabais Sá, Bert B.A. de Vries, Rüdiger Lorenz, Elizabeth E. Palmer, Michael J. Parker, Arjan P.M. de Brouwer, Hester Y. Kroes, M. Chiara Manzini, Abbey A. Scott, Tara Montgomery, Naama Orenstein, Jeanne Amiel, Delphine Héron, Leonie A. Menke, Jonathan Berg, Sylvie Odent, Rachel Harrison, Philip J. Jensik, Rani Sachdev, Miranda Splitt, Tyler Mark Pierson, Jan Maarten Cobben, Ehsan Ghayoor Karimiani, Anneke T. Vulto-vanSilfhout, Roberto Colombo, Nayana Lahiri, Julian A. Martinez-Agosto, Evan P. McNeil, Boris Keren, John M. Graham, Chanika Phornphutkul, Reza Maroofian
Publikováno v:
Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, 2019, 21 (9), pp.2059-2069. ⟨10.1038/s41436-019-0473-6⟩
Genetics in Medicine, 21, 2059-2069
Genetics in Medicine, 21, 9, pp. 2059-2069
Genetics in Medicine, 2019, 21 (9), pp.2059-2069. ⟨10.1038/s41436-019-0473-6⟩
Genetics in medicine, 21(9), 2059-2069. Lippincott Williams and Wilkins
Genetics in Medicine, 21(9), 2059-2069. Lippincott Williams and Wilkins
Genetics in Medicine, Nature Publishing Group, 2019, 21 (9), pp.2059-2069. ⟨10.1038/s41436-019-0473-6⟩
Genetics in Medicine, 21, 2059-2069
Genetics in Medicine, 21, 9, pp. 2059-2069
Genetics in Medicine, 2019, 21 (9), pp.2059-2069. ⟨10.1038/s41436-019-0473-6⟩
Genetics in medicine, 21(9), 2059-2069. Lippincott Williams and Wilkins
Genetics in Medicine, 21(9), 2059-2069. Lippincott Williams and Wilkins
International audience; Purpose To investigate the effect of different DEAF1 variants on the phenotype of patients with autosomal dominant and recessive inheritance patterns and on DEAF1 activity in vitro. Methods We assembled a cohort of 23 patients
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6ac3ba8289bdf5efd925159aab4fd9f
https://doi.org/10.1038/s41436-019-0473-6
https://doi.org/10.1038/s41436-019-0473-6
Autor:
Boris Keren, Femke Latta, Elise Brimble, Hester Y. Kroes, Maria Szczepańska, Maria I. Tejada, Rutger A.J. Nievelstein, Maria Ruzhnikov, David Germanaud, Dominik N. Müller, Karl-Peter Schlingmann, Martin Konrad, Gijs A C Franken, Anne-Claude Tabet, Cyril Mignot, Martin Ćuk, Joost G. J. Hoenderop, René J. M. Bindels, Luis Alfonso Martínez-Cruz, Jeroen H. F. de Baaij, Jonathan I. Levy, Felix Claverie-Martin
Publikováno v:
Human Mutation, 42, 473-486
Human Mutation
Human Mutation, Wiley, 2021, ⟨10.1002/humu.24182⟩
Human Mutation, 42, 4, pp. 473-486
Human Mutation
Human Mutation, Wiley, 2021, ⟨10.1002/humu.24182⟩
Human Mutation, 42, 4, pp. 473-486
Hypomagnesemia, seizures, and intellectual disability (HSMR) syndrome is a rare disorder caused by mutations in the cyclin M2 (CNNM2) gene. Due to the limited number of cases, extensive phenotype analyses of these patients have not been performed, hi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::badbe08f4c92db6d3bd966157d385104
http://hdl.handle.net/2066/238837
http://hdl.handle.net/2066/238837