Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Ronald J E Pennings"'
Autor:
Hedwig M. Velde, Xanne J. J. Huizenga, Helger G. Yntema, Lonneke Haer-Wigman, Andy J. Beynon, Jaap Oostrik, Sjoert A. H. Pegge, Hannie Kremer, Cris P. Lanting, Ronald J. E. Pennings
Publikováno v:
Genes, Vol 14, Iss 2, p 457 (2023)
The aim of this study is to contribute to a better description of the genotypic and phenotypic spectrum of DFNA6/14/38 and aid in counseling future patients identified with this variant. Therefore, we describe the genotype and phenotype in a large Du
Externí odkaz:
https://doaj.org/article/2dc7721b383843beb3f210caf5cd5229
Autor:
Sybren M. M. Robijn, Jeroen J. Smits, Kadriye Sezer, Patrick L. M. Huygen, Andy J. Beynon, Erwin van Wijk, Hannie Kremer, Erik de Vrieze, Cornelis P. Lanting, Ronald J. E. Pennings
Publikováno v:
Biomolecules, Vol 12, Iss 2, p 220 (2022)
Pathogenic missense variants in COCH are associated with DFNA9, an autosomal dominantly inherited type of progressive sensorineural hearing loss with or without vestibular dysfunction. This study is a comprehensive overview of genotype-phenotype corr
Externí odkaz:
https://doaj.org/article/76007738f70f47bb8d879ea1a1a1ea33
Autor:
Janine Reurink, Adrian Dockery, Dominika Oziębło, G. Jane Farrar, Monika Ołdak, Jacoline B. ten Brink, Arthur A. Bergen, Tuula Rinne, Helger G. Yntema, Ronald J. E. Pennings, L. Ingeborgh van den Born, Marco Aben, Jaap Oostrik, Hanka Venselaar, Astrid S. Plomp, M. Imran Khan, Erwin van Wijk, Frans P. M. Cremers, Susanne Roosing, Hannie Kremer
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 12, p 6419 (2021)
A substantial proportion of subjects with autosomal recessive retinitis pigmentosa (arRP) or Usher syndrome type II (USH2) lacks a genetic diagnosis due to incomplete USH2A screening in the early days of genetic testing. These cases lack eligibility
Externí odkaz:
https://doaj.org/article/55f2f711bc9c42209bd42a3775f1dbcb
Autor:
Hedwig M Velde, Nienke C Homans, André Goedegebure, Cornelis P Lanting, Ronald J E Pennings, Hannie Kremer
Publikováno v:
Journal of Medical Genetics. :jmg-2023
BackgroundA 12-nucleotideRIPOR2in-frame deletion was recently identified as a relatively common and highly penetrant cause of autosomal dominant non-syndromic sensorineural hearing loss, type DFNA21, in the Netherlands. The associated hearing phenoty
Autor:
Hedwig M. Velde, Janine Reurink, Sebastian Held, Catherina H. Z. Li, Suzanne Yzer, Jaap Oostrik, Jack Weeda, Lonneke Haer-Wigman, Helger G. Yntema, Susanne Roosing, Laurenz Pauleikhoff, Clemens Lange, Laura Whelan, Adrian Dockery, Julia Zhu, David J. Keegan, G. Jane Farrar, Hannie Kremer, Cornelis P. Lanting, Markus Damme, Ronald J. E. Pennings
Publikováno v:
Human Genetics, 141, 11, pp. 1723-1738
Human Genetics, 141, 1723-1738
Human Genetics, 141, 1723-1738
Usher syndrome (USH) is an autosomal recessively inherited disease characterized by sensorineural hearing loss (SNHL) and retinitis pigmentosa (RP) with or without vestibular dysfunction. It is highly heterogeneous both clinically and genetically. Re
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06cf4ad4fff1a689f51e7f408ecfb9b4
https://repository.ubn.ru.nl/handle/2066/287277
https://repository.ubn.ru.nl/handle/2066/287277
Autor:
Sybren M M, Robijn, Jeroen J, Smits, Kadriye, Sezer, Patrick L M, Huygen, Andy J, Beynon, Erwin, van Wijk, Hannie, Kremer, Erik, de Vrieze, Cornelis P, Lanting, Ronald J E, Pennings
Publikováno v:
Biomolecules. 12(2)
Pathogenic missense variants in
Autor:
Suzanne E, de Bruijn, Jeroen J, Smits, Chang, Liu, Cornelis P, Lanting, Andy J, Beynon, Joëlle, Blankevoort, Jaap, Oostrik, Wouter, Koole, Erik, de Vrieze, Cor W R J, Cremers, Frans P M, Cremers, Susanne, Roosing, Helger G, Yntema, Henricus P M, Kunst, Bo, Zhao, Ronald J E, Pennings, Hannie, Kremer, J M, van de Kamp
Publikováno v:
J Med Genet
BACKGROUND: Hearing loss is one of the most prevalent disabilities worldwide, and has a significant impact on quality of life. The adult-onset type of the condition is highly heritable but the genetic causes are largely unknown, which is in contrast
Autor:
Neil P, Donnelly, Ronald J E, Pennings
Publikováno v:
Advances in oto-rhino-laryngology. 81
Hearing implant technology is evolving at a rapid rate and more than ever patients with hearing loss are benefiting from these emerging hearing devices. Active middle ear implants are alternatives to hearing aids and bone conducting devices, offering
Autor:
Barend F T, Hogewind, Ronald J E, Pennings, Frans A, Hol, Henricus P M, Kunst, Elisabeth H, Hoefsloot, Johannes R M, Cruysberg, Cor W R J, Cremers
Publikováno v:
Molecular Vision
Purpose To describe the phenotype of a novel Wolframin (WFS1) mutation in a family with autosomal dominant optic neuropathy and deafness. The study is designed as a retrospective observational case series. Methods Seven members of a Dutch family unde
Autor:
Rutger F, Plantinga, Ronald J E, Pennings, Patrick L M, Huygen, Eeva-Marja, Sankila, Kaija, Tuppurainen, Leenamaija, Kleemola, Cor W R J, Cremers, August F, Deutman
Publikováno v:
Acta ophthalmologica Scandinavica. 84(1)
To evaluate visual impairment in Finnish Usher syndrome type 3 (USH3) and compare this with visual impairment in Usher syndrome types 1b (USH1b) and 2a (USH2a).We carried out a retrospective study of 28 Finnish USH3 patients, 24 Dutch USH2a patients