LONG-TERM FOLLOW-UP OF PATIENTS WITH RETINITIS PIGMENTOSA TYPE 12 CAUSED BY CRB1 MUTATIONS: A Severe Phenotype With Considerable Interindividual Variability

Autor: Inge B. Mathijssen, Frank Baas, Astrid S. Plomp, Renate C. Zekveld-Vroon, Arthur A. B. Bergen, Hanne Meijers-Heijboer, L. Ingeborgh van den Born, Jacoline B. ten Brink, Mary J van Schooneveld, Ralph J. Florijn

Publikováno v: Mathijssen, I B, Florijn, R J, Van Den Born, L I, Zekveld-Vroon, R C, Ten Brink, J B, Plomp, A S, Baas, F, Meijers-Heijboer, H, Bergen, A A B & Van Schooneveld, M J 2017, ' Long-term follow-up of patients with retinitis pigmentosa type 12 caused by CRB1 mutations : A severe phenotype with considerable interindividual variability ', Retina, vol. 37, no. 1, pp. 161-172 . https://doi.org/10.1097/IAE.0000000000001127
Retina, 37, 161-172. Lippincott Williams & Wilkins
Retina (Philadelphia, Pa.), 37(1), 161-172. Lippincott Williams and Wilkins
Retina, 37(1), 161-172. Lippincott Williams and Wilkins

Purpose: To examine the long-term clinical course and variability in a large pedigree segregating CRB1 type autosomal recessive retinitis pigmentosa. Methods: An observational case study of 30 patients with CRB1 type autosomal recessive retinitis pig

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9645a38b737cdfe2b5a4f040e267f56a
https://doi.org/10.1097/iae.0000000000001127

Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders

Autor: Bart P. Leroy, Caroline C W Klaver, Janneke J.C. van Lith-Verhoeven, Carel B. Hoyng, Norka van Moll-Ramirez, Susanne Roosing, Renate C. Zekveld-Vroon, Frans P.M. Cremers, Elfride De Baere, Tim M. Strom, Anneke I. den Hollander, Andrew J. Lotery, L. Ingeborgh van den Born, Rob W.J. Collin, Sander B. Nabuurs, Mary J. van Schooneveld, Alberta A H J Thiadens, Robert K. Koenekoop

Publikováno v: American Journal of Human Genetics, 85(2), 240-247. Cell Press
American Journal of Human Genetics, 85, 240-247. Cell Press
American Journal of Human Genetics, 85, 2, pp. 240-7
American journal of human genetics, 85(2), 240-247. Cell Press
American Journal of Human Genetics, 85, 240-7

Contains fulltext : 80462.pdf (Publisher’s version ) (Closed access) Cone photoreceptor disorders form a clinical spectrum of diseases that include progressive cone dystrophy (CD) and complete and incomplete achromatopsia (ACHM). The underlying dis

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1d149c3c2a0d18b5daa4529b7c67e02a
https://hdl.handle.net/2066/80462

Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype

Autor: Bernd Wissinger, Renate C. Zekveld-Vroon, Alejandro Estrada-Cuzcano, Sandro Banfi, Jean-Michel Rozet, Ditta Zobor, Esther Pomares, Isabelle Perrault, Huanan Ren, Shiqiang Li, Susanne Kohl, Frans P.M. Cremers, André Mégarbané, Anneke I. den Hollander, Ralph J. Florijn, Rui Chen, Marc Jeanpierre, Irma Lopez, Francesco Testa, Nisrine Aboussair, Roser Gonzàlez-Duarte, Blanca C. Flores, Corinne Leowski, Francesca Simonelli, Edwin M. Stone, Josseline Kaplan, Qingjiong Zhang, Catherine Edelson, Arthur A.B. Bergen, Jean Andorf, Arnold Munnich, Cristina Villanueva, Nathalie Delphin, Robert K. Koenekoop, Xia Wang

Publikováno v: PLoS One, 8, 1
Dipòsit Digital de la UB
Universidad de Barcelona
PLoS One
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Recercat. Dipósit de la Recerca de Catalunya
instname
PLoS ONE
PLoS One, 8
PLoS ONE, 8(1). Public Library of Science
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
PLoS ONE, Vol 8, Iss 1, p e51622 (2013)

Contains fulltext : 117915.pdf (Publisher’s version ) (Open Access) Leber congenital amaurosis (LCA) is the earliest and most severe retinal degeneration (RD), and the most common cause of incurable blindness diagnosed in children. It is occasional

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::651dd505d873f0a51a487071d6819a44
https://hdl.handle.net/2066/117915

Detergent protease exposure and respiratory disease: case-referent analysis of a retrospective cohort

Autor: J Helm, C. Zekveld, F Barnes, A J Newman Taylor, S Upchurch, A Brant, M van Tongeren, Paul Cullinan

Publikováno v: Occupational and environmental medicine. 66(11)

Objectives: To examine the relationship between protease exposure and respiratory disease in a cohort of detergent enzyme manufacturers. Methods: Case–referent analysis of a cohort of employees working in a European detergent factory between 1989 a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::032a4dbf21aa9e24dd0413f4b03cb779
https://pubmed.ncbi.nlm.nih.gov/19564650

The effects of farming and birth order on asthma and allergies

Autor: A. Pedioti, A J Newman Taylor, I. Dimitroulis, Paul Cullinan, Jessica Harris, I Bibakis, V Bibaki-Liakou, C. Zekveld

Publikováno v: The European respiratory journal. 28(1)

A farm childhood is apparently protective in allergic disease, but studies of this issue in Europe have been confined to particular types of farming practice. This study addressed whether or not this effect was generalisable. A cross-sectional survey

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::023f7b88be59cd4d115e55113ebf7c8a
https://pubmed.ncbi.nlm.nih.gov/16481388