المؤلفون: Ascari, G, Peelman, F, Farinelli, P, Rosseel, T, Lambrechts, N, Wunderlich, KA, Wagner, M, Nikopoulos, K, Martens, P, Balikova, I, Derycke, L, Holtappels, G, Krysko, O, Van Laethem, T, De Jaegere, S, Guillemyn, B, De Rycke, R, De Bleecker, J, Creytens, D, Van Dorpe, J, Gerris, J, Bachert, C, Neuhofer, C, Walraedt, S, Bischoff, A, Pedersen, LB, Klopstock, T, Rivolta, C, Leroy, BP, De Baere, E, Coppieters, F

المصدر: Human mutation. 41(5):998-1011

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:142967805

المؤلفون: Efimova, I, Catanzaro, E, Van der Meeren, L, Turubanova, VD, Hammad, H, Mishchenko, TA, Vedunova, MV, Fimognari, C, Bachert, C, Coppieters, F, Lefever, S, Skirtach, AG, Krysko, O, Krysko, DV

المصدر: Journal for immunotherapy of cancer. 8(2)

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:145452279

المؤلفون: Dueñas Rey, A, del Pozo Valero, M, Bouckaert, M, Wood, KA, Van den Broeck, F, Varela, MD, Thomas, HB, Van Heetvelde, M, De Bruyne, M, Van de Sompele, S, Bauwens, M, Lenaerts, H, Mahieu, Q, Josifova, D, Rivolta, C, O’Keefe, RT, Ellingford, J, Webster, AR, Arno, G, Ayuso, C, De Zaeytijd, J, Leroy, BP, De Baere, E, Coppieters, F

المصدر: Genome Medicine , 16 (1) , Article 7. (2024)

مصطلحات موضوعية: 5’untranslated region (5’UTR), Upstream open reading frame (uORF), Non-coding variation, Whole genome sequencing (WGS), Whole exome sequencing (WES), In silico prioritization, Variant interpretation, Functional studies, Inherited retinal disease (IRD)

وصف الملف: application/pdf

Relation: https://discovery.ucl.ac.uk/id/eprint/10186119/1/s13073-023-01277-1.pdf; https://discovery.ucl.ac.uk/id/eprint/10186119/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10186119/1/s13073-023-01277-1.pdf
https://discovery.ucl.ac.uk/id/eprint/10186119/

المؤلفون: Vedunova, M, Turubanova, V, Vershinina, O, Savyuk, M, Efimova, I, Mishchenko, T, Raedt, R, Vral, A, Vanhove, C, Korsakova, D, Bachert, C, Coppieters, F, Agostinis, P, Garg, AD, Ivanchenko, M, Krysko, O, Krysko, DV

المصدر: Cell death & disease. 13(12):1062

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:151541920

المؤلفون: Panneman, D.M., Hitti-Malin, R.J., Holtes, L.K., de Bruijn, S.E., Reurink, J., Boonen, E.G.M., Khan, M.I., Ali, M., Andreasson, S., De Baere, E., Banfi, S., Bauwens, M., Ben-Yosef, T., Bocquet, B., De Bruyne, M., de la Cerda, B., Coppieters, F., Farinelli, P., Guignard, T., Inglehearn, C.F., Karali, M., Kjellstrom, U., Koenekoop, R., de Koning, B., Leroy, B.P., McKibbin, M., Meunier, I., Nikopoulos, K., Nishiguchi, K.M., Poulter, J.A., Rivolta, C., de la Rua, E.R., Saunders, P., Simonelli, F., Tatour, Y., Testa, F., Thiadens, A.A.H.J., Toomes, C., Tracewska, A.M., Tran, H.V., Ushida, H., Vaclavik, V., Verhoeven, V.J.M., van de Vorst, M., Gilissen, C., Hoischen, A., Cremers, F.P.M., Roosing, S.

المصدر: Panneman , D M , Hitti-Malin , R J , Holtes , L K , de Bruijn , S E , Reurink , J , Boonen , E G M , Khan , M I , Ali , M , Andreasson , S , De Baere , E , Banfi , S , Bauwens , M , Ben-Yosef , T , Bocquet , B , De Bruyne , M , de la Cerda , B , Coppieters , F , Farinelli , P , Guignard , T , Inglehearn , C F , Karali , M , Kjellstrom , ....

مصطلحات موضوعية: inherited retinal diseases, targeted gene sequencing, cost-effective, high-throughput, smMIPs, RETINAL DYSTROPHY, MUTATIONS, VARIANTS

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/f8ce5e41-6786-4d77-9c3d-5752efcc5b90
https://doi.org/10.3389/fcell.2023.1112270

المؤلفون: Panneman, DM, Hitti-Malin, RJ, Holtes, LK, de Bruijn, SE, Reurink, J, Boonen, EGM, Khan, MI, Ali, M, Andréasson, S, De Baere, E, Banfi, S, Bauwens, M, Ben-Yosef, T, Bocquet, B, De Bruyne, M, de la Cerda, B, Coppieters, F, Farinelli, P, Guignard, T, Inglehearn, CF, Karali, M, Kjellström, U, Koenekoop, R, de Koning, B, Leroy, BP, McKibbin, M, Meunier, I, Nikopoulos, K, Nishiguchi, KM, Poulter, JA, Rivolta, C, Rodríguez de la Rúa, E, Saunders, P, Simonelli, F, Tatour, Y, Testa, F, Thiadens, AAHJ, Toomes, C, Tracewska, AM, Tran, HV, Ushida, H, Vaclavik, V, Verhoeven, VJM, van de Vorst, M, Gilissen, C, Hoischen, A, Cremers, FPM, Roosing, S

وصف الملف: text

Relation: https://eprints.whiterose.ac.uk/196829/1/Cost-effective%20sequence%20analysis%20of%20113%20genes%20in%201,192%20probands%20with%20retinitis%20pigmentosa%20and%20Leber%20congenital%20amaurosis.pdf; Panneman, DM, Hitti-Malin, RJ, Holtes, LK et al. (45 more authors) (2023) Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis. Frontiers in Cell and Developmental Biology, 11. 1112270. ISSN 2296-634X

الاتاحة: https://eprints.whiterose.ac.uk/196829/
https://eprints.whiterose.ac.uk/196829/1/Cost-effective%20sequence%20analysis%20of%20113%20genes%20in%201,192%20probands%20with%20retinitis%20pigmentosa%20and%20Leber%20congenital%20amaurosis.pdf

المؤلفون: Riepe, T.V., Stemerdink, M., Salz, R.L., Rey, A.D., Bruijn, S.E. de, Boonen, E.G.M., Tomkiewicz, T., Kwint, M.P., Gloerich, J., Wessels, H.J.C.T., Delanote, E., Baere, E. De, Nieuwerburgh, F. van, Keulenaer, S. De, Ferrari, B., Ferrari, S., Coppieters, F., Cremers, F.P.M., WIjk, E. van, Roosing, S., Vrieze, E. de, Hoen, P.A.C. 't

المصدر: Frontiers in Genetics, 15, pp. 1451024

مصطلحات موضوعية: Human Genetics - Radboud University Medical Center, Human Genetics - Radboud University Medical Center - DCMN, Medical Biosciences - Radboud University Medical Center, Otorhinolaryngology - Radboud University Medical Center, Otorhinolaryngology - Radboud University Medical Center - DCMN

Relation: https://repository.ubn.ru.nl//bitstream/handle/2066/311156/311156.pdf; https://hdl.handle.net/2066/311156

الاتاحة: https://hdl.handle.net/2066/311156
https://repository.ubn.ru.nl//bitstream/handle/2066/311156/311156.pdf
https://doi.org/10.3389/fgene.2024.1451024

المؤلفون: Van de Sompele, S, Smith, C, Karali, M, Corton, M, Van Schil, K, Peelman, F, Cherry, T, Rosseel, T, Verdin, H, Derolez, J, Van Laethem, T, Khan, KN, McKibbin, M, Toomes, C, Ali, M, Torella, A, Testa, F, Jimenez, B, Simonelli, F, De Zaeytijd, J, Van den Ende, J, Leroy, BP, Coppieters, F, Ayuso, C, Inglehearn, CF, Banfi, S, De Baere, E

وصف الملف: text

Relation: https://eprints.whiterose.ac.uk/138187/20/s41436-018-0345-5.pdf; Van de Sompele, S, Smith, C orcid.org/0000-0001-8320-5105 , Karali, M et al. (24 more authors) (2019) Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease. Genetics in Medicine, 21 (6). pp. 1319-1329. ISSN 1098-3600

الاتاحة: https://eprints.whiterose.ac.uk/138187/
https://eprints.whiterose.ac.uk/138187/20/s41436-018-0345-5.pdf

المؤلفون: Van de Sompele, S, Smith, C, Karali, M, Corton, M, Van Schil, K, Peelman, F, Cherry, T, Rosseel, T, Verdin, H, Derolez, J, Van Laethem, T, Khan, KN, McKibbin, M, Toomes, C, Ali, M, Torella, A, Testa, F, Jimenez, B, Simonelli, F, De Zaeytijd, J, Van den Ende, J, Leroy, BP, Coppieters, F, Ayuso, C, Inglehearn, CF, Banfi, S, De Baere, E

وصف الملف: text

Relation: https://eprints.whiterose.ac.uk/141531/7/s41436-018-0392-y.pdf; Van de Sompele, S, Smith, C, Karali, M et al. (24 more authors) (2019) Correction to: Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease. Genetics in Medicine, 21 (4). p. 1028. ISSN 1098-3600

الاتاحة: https://eprints.whiterose.ac.uk/141531/
https://eprints.whiterose.ac.uk/141531/7/s41436-018-0392-y.pdf

المؤلفون: Valkenburg, D. (Dyon), van Cauwenbergh, C. (Caroline), Lorenz, B., van Genderen, M.M. (Mies M.), Bertelsen, M. (Mette), Pott, J.-W.R. (Jan-Willem R.), Coppieters, F. (Frauke), De Zaeytijd, J. (Julie), Thiadens, A.A.H.J. (Alberta), Klaver, C.C.W. (Caroline), Kroes, H.Y. (Hester), Schooneveld, M.J. (Mary), Preising, M.N. (Markus N.), Hoyng, C.B. (Carel), Leroy, B.P. (Bart P.), Born, L.I. (Ingeborgh) van den, Collin, R.W.J. (Rob)

المصدر: Investigative Ophthalmology & Visual Science vol. 59 no. 11, pp. 4384-4391

مصطلحات موضوعية: Genetic diseases, Low vision, Retina, Retinal dystrophy, Visual development

وصف الملف: application/pdf

Relation: http://repub.eur.nl/pub/110256; urn:hdl:1765/110256

الاتاحة: http://repub.eur.nl/pub/110256
https://doi.org/10.1167/iovs.18-24817

المؤلفون: Baetens, D. (Dorien), Stoop, J.A. (Hans), Peelman, F. (Frank), Todeschini, A.-L. (Anne-Laure), Rosseel, T. (Toon), Coppieters, F. (Frauke), Veitia, R.A., Looijenga, L.H.J. (Leendert), De Baere, E. (Elfride), Cools, M.B.C.M. (Martine)

المصدر: Genetics in Medicine vol. 19 no. 4, pp. 367-376

مصطلحات موضوعية: XX DSD, gonadal development, NR5A1, ovotesticular DSD, testicular DSD

Time: 46

وصف الملف: application/pdf

Relation: http://repub.eur.nl/pub/99211; urn:hdl:1765/99211

الاتاحة: http://repub.eur.nl/pub/99211
https://doi.org/10.1038/gim.2016.118

المؤلفون: Rey, A. D., Khan, M. I., Khan, M., Bauwens, M., Rosseel, T., Sharon, D., Koenekoop, R. K., Arno, G., Webster, A., Toomes, C., DHAENENS, Claire-Marie, Cremers, F. P. M., De Baere, E., Coppieters, F.

المساهمون: Université de Lille, Inserm, CHU Lille, Lille Neurosciences & Cognition (LilNCog) - U 1172

Relation: Invest. Ophthalmol. Vis. Sci.; http://hdl.handle.net/20.500.12210/70251

الاتاحة: https://hdl.handle.net/20.500.12210/70251

المؤلفون: Coppieters, F., Ascari, G., Dannhausen, K., Nikopoulos, K., Peelman, F., Karlstetter, M., Xu, M., Brachet, C., Meunier, I., Tsilimbaris, M.K., Tsika, C., Blazaki, S.V., Vergult, S., Farinelli, P., Van Laethem, T., Bauwens, M., De Bruyne, M., Chen, R., Langmann, T., Sui, R., Meire, F., Rivolta, C., Hamel, C.P., Leroy, B.P., De Baere, E.

المصدر: American journal of human genetics, vol. 99, no. 2, pp. 470-480

مصطلحات موضوعية: Adolescent, Adult, Age of Onset, Alleles, Child, Consanguinity, Cullin Proteins/metabolism, Exome/genetics, Female, Founder Effect, Genes, Recessive, Guanine Nucleotide Exchange Factors/genetics, Haplotypes/genetics, Homozygote, Humans, Lymphocytes/metabolism, Male, Mutation, Missense/genetics, NF-E2-Related Factor 2/metabolism, Pedigree, Phenotype, RNA, Messenger/genetics, Retina/metabolism, Retinal Dystrophies/genetics, Syndrome, Turkey, Ubiquitination/genetics

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/27486781; info:eu-repo/semantics/altIdentifier/eissn/1537-6605; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_D94870497C067; https://serval.unil.ch/notice/serval:BIB_D94870497C06; https://serval.unil.ch/resource/serval:BIB_D94870497C06.P001/REF.pdf

الاتاحة: https://serval.unil.ch/notice/serval:BIB_D94870497C06
https://doi.org/10.1016/j.ajhg.2016.06.017
https://serval.unil.ch/resource/serval:BIB_D94870497C06.P001/REF.pdf
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_D94870497C067

المؤلفون: Panneman, DM, Hitti-Malin, RJ, Holtes, LK, de Bruijn, SE, Reurink, J, Boonen, EGM, Khan, MI, Ali, M, Andréasson, S, De Baere, E, Banfi, S, Bauwens, M, Ben-Yosef, T, Bocquet, B, De Bruyne, M, de la Cerda, B, Coppieters, F, Farinelli, P, Guignard, T, Inglehearn, CF, Karali, M, Kjellström, U, Koenekoop, R, de Koning, B, Leroy, BP, McKibbin, M, Meunier, I, Nikopoulos, K, Nishiguchi, KM, Poulter, JA, Rivolta, C, Rodríguez de la Rúa, E, Saunders, P, Simonelli, F, Tatour, Y, Testa, F, Thiadens, AAHJ, Toomes, C, Tracewska, AM, Viet Tran, H, Ushida, H, Vaclavik, V, Verhoeven, VJM, van de Vorst, M, Gilissen, C, Hoischen, A, Cremers, FPM, Roosing, S

Relation: Panneman, DM, Hitti-Malin, RJ, Holtes, LK et al. (45 more authors) (2022) Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis. [Preprint - Cold Spring Harbor Laboratory]

الاتاحة: https://eprints.whiterose.ac.uk/197565/
https://doi.org/10.1101/2022.11.24.22282656

المؤلفون: Coppieters, F, Casteels, I, Meire, F, De Jaegere, S, Hooghe, S, van Regemorter, N, Van Esch, H, Matuleviciene, A, Nunes, L, Meersschaut, V, Walraedt, S, Standaert, L, Coucke, P, Hoeben, H, Kroes, H, Vande Walle, J, de Ravel, T, Leroy, B, De Baere, E

مصطلحات موضوعية: Adaptor Proteins, Signal Transducing, Adolescent, Adult, Antigens, Neoplasm, Belgium, Child, Preschool, DNA Mutational Analysis, Gene Expression Profiling, Genotype, Humans, Infant, Leber Congenital Amaurosis, Middle Aged, Neoplasm Proteins, Oligonucleotide Array Sequence Analysis, Phenotype, Proteins, Retinal Degeneration, Retinal Dystrophies, Young Adult, Alleles, Genetic Testing, HDE - GEN

Relation: Hum Mutat. 2010 Oct;31(10):E1709-66; http://hdl.handle.net/10400.17/2486

الاتاحة: http://hdl.handle.net/10400.17/2486
https://doi.org/10.1002/humu.21336

المؤلفون: COPPIETERS, F

المصدر: Acta Ophthalmologica ; volume 86, issue s243, page 0-0 ; ISSN 1755-375X 1755-3768

الاتاحة: http://dx.doi.org/10.1111/j.1755-3768.2008.4162.x
http://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1755-3768.2008.4162.x
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1755-3768.2008.4162.x/fullpdf

المؤلفون: Valkenburg, D, Van Cauwenbergh, C, Lorenz, B, van Genderen, MM, Bertelsen, M, Pott, JWR, Coppieters, F, de Zaeytijd, J, Thiadens, Alberta, Klaver, Caroline, Kroes, HY, van Schooneveld, MJ, Preising, M, Hoyng, CB, Leroy, BP, van den Born, LI, Collin, RWJ

المساهمون: Ophthalmology, Epidemiology

المصدر: Investigative ophthalmology & visual science, 59(11), 4384-4391. ASSOC RESEARCH VISION OPHTHALMOLOGY INC
Investigative Ophthalmology & Visual Science, 59(11), 4384-4391. Association for Research in Vision and Ophthalmology Inc.

مصطلحات موضوعية: AMAUROSIS, retina, genetic structures, IDENTIFICATION, FEATURES, DYSTROPHY, DEGENERATION, PHENOTYPE, low vision, GENE, THERAPY, eye diseases, RPE65 MUTATIONS, MECHANISMS, genetic diseases, visual development, sense organs, retinal dystrophy

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::429fee8cc61cdf454e20b62f3349544b
https://research.rug.nl/en/publications/f5244a69-f673-4271-b231-e90826dca1a6

المؤلفون: Bauwens, M, Coppieters, F, De Zaeytijd, J, Weisschuh, N, Kohl, S, Dahan, K, Depasse, F, De Rademaeker, M, Loeys, B, Meire, F, de Ravel de l'Argentière, Thomy, Steyaert, W, De Jaegere, S, Leroy, BP, De Baere, E

Relation: Online abstracts; European Human Genetics Conference 2015 location:Glasgow, Scotland date:June 6-9 2015; https://lirias.kuleuven.be/handle/123456789/504069; http://www.abstractsonline.com/Plan/ViewAbstract.aspx?sKey=c2c3e1a3-6342-4015-a08a-5d5083060121&cKey=bab8f9ac-59a0-47bc-87d3-693fa9ddcd91&mKey=cabdedda-497c-457e-8481-34a866ab3681

الاتاحة: https://lirias.kuleuven.be/handle/123456789/504069
http://www.abstractsonline.com/Plan/ViewAbstract.aspx?sKey=c2c3e1a3-6342-4015-a08a-5d5083060121&cKey=bab8f9ac-59a0-47bc-87d3-693fa9ddcd91&mKey=cabdedda-497c-457e-8481-34a866ab3681

المؤلفون: Coppieters, F, Baert, A, Todeschini, AL, Van Cauwenbergh, C, Bauwens, M, De Jaegere, S, de Ravel de l'Argentière, Thomy, Meire, F, Abdelmoula Bouayed, N, Florentin-Arar, L, Veitia, RA, Leroy, BP, De Baere, E

Relation: European Journal of Human Genetics vol:21 issue:suppl. 2 pages:128-128; European Human Genetics Conference 2013 location:Paris, France date:8-11 June, 2013; https://lirias.kuleuven.be/handle/123456789/403632

الاتاحة: https://lirias.kuleuven.be/handle/123456789/403632

المؤلفون: Van Schil, K, de Ravel de l'Argentière, Thomy, Leroy, BP, Verdin, H, Coppieters, F, Meire, F, De Baere, E

Relation: European Journal of Human Genetics vol:21 issue:suppl. 2 pages:119-119; European Human Genetics Conference 2013 location:Paris, France date:8-11 June, 2013; https://lirias.kuleuven.be/handle/123456789/403631

الاتاحة: https://lirias.kuleuven.be/handle/123456789/403631