المؤلفون: Zhe Zhu, He Zou, Chuanyu Li, Bainan Tong, Chenchen Zhang, Jun Xiao

المصدر: BMC Ophthalmology, Vol 22, Iss 1, Pp 1-9 (2022)

مصطلحات موضوعية: North Carolina macular dystrophy, Chinese family, PRDM13, Pathogenesis, Ophthalmology, RE1-994

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1471-2415Test

الوصول الحر: https://doaj.org/article/52a982efb6c641b19b60714511a04f1bTest

المؤلفون: Small, Kent W., Van de Sompele, Stijn, Avetisjan, Jessica, Udar, Nitin, Agemy, Steven, De Baere, Elfride, Shaya, Fadi S.

المصدر: JOURNAL OF VITREORETINAL DISEASES ; ISSN: 2474-1264 ; ISSN: 2474-1272

مصطلحات موضوعية: Medicine and Health Sciences, CAROLINA MACULAR DYSTROPHY, BIFOCAL CHORIORETINAL ATROPHY, COPY-NUMBER, MCDR1, PRDM13, DUPLICATION, VARIANT, REARRANGEMENTS, PHENOTYPE, GENES, North Carolina macular dystrophy, NCMD, mutational, hotspot, whole-genome sequencing, copy number variant, DNase I site, chromosome 6, single nucleotide variants, SV, inherited retinal diseases

وصف الملف: application/pdf

العلاقة: https://biblio.ugent.be/publication/01GTHEVYCZYEWACGEMQGN894GETest; http://hdl.handle.net/1854/LU-01GTHEVYCZYEWACGEMQGN894GETest; http://doi.org/10.1177/24741264221129432Test; https://biblio.ugent.be/publication/01GTHEVYCZYEWACGEMQGN894GE/file/01GTHEWDJWZTQM8HT42MVEVPP3Test

الإتاحة: https://doi.org/10.1177/24741264221129432Test
https://biblio.ugent.be/publication/01GTHEVYCZYEWACGEMQGN894GETest
http://hdl.handle.net/1854/LU-01GTHEVYCZYEWACGEMQGN894GETest
https://biblio.ugent.be/publication/01GTHEVYCZYEWACGEMQGN894GE/file/01GTHEWDJWZTQM8HT42MVEVPP3Test

المؤلفون: Van de Sompele, S., Small, K.W., Cicekdal, M.B., Soriano, V.L., D'haene, E., Shaya, F.S., Agemy, S., Van der Snickt, T., Rey, A.D., Rosseel, T., Van Heetvelde, M., Vergult, S., Balikova, I., Bergen, A.A., Boon, CJF, De Zaeytijd, J., Inglehearn, C.F., Kousal, B., Leroy, B.P., Rivolta, C., Vaclavik, V., van den Ende, J., van Schooneveld, M.J., Gómez-Skarmeta, J.L., Tena, J.J., Martinez-Morales, J.R., Liskova, P., Vleminckx, K., De Baere, E.

المصدر: American journal of human genetics, vol. 109, no. 11, pp. 2029-2048

مصطلحات موضوعية: Adult, Animals, Humans, Pedigree, Tomography, Optical Coherence, Corneal Dystrophies, Hereditary, Retina/metabolism, Xenopus laevis/genetics, IRX1, North Carolina macular dystrophy, NCMD, PRDM13, UMI-4C, cis-regulatory elements, CREs, enhanceropathy, human retina, multi-omics, non-coding single-nucleotide variants, SNVs, whole-genome sequencing

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36243009; info:eu-repo/semantics/altIdentifier/eissn/1537-6605; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_0187457C35DF4; https://serval.unil.ch/notice/serval:BIB_0187457C35DFTest; urn:issn:0002-9297; https://serval.unil.ch/resource/serval:BIB_0187457C35DF.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_0187457C35DF4Test

الإتاحة: https://doi.org/10.1016/j.ajhg.2022.09.013Test
https://serval.unil.ch/notice/serval:BIB_0187457C35DFTest
https://serval.unil.ch/resource/serval:BIB_0187457C35DF.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_0187457C35DF4Test

المؤلفون: Coolen, M., Altin, N., Rajamani, K., Pereira, E., Siquier-Pernet, K., Puig Lombardi, E., Moreno, N., Barcia, G., Yvert, M., Laquerrière, A., Pouliet, A., Nitschké, P., Boddaert, N., Rausell, A., Razavi, F., Afenjar, A., Billette de Villemeur, T., Al-Maawali, A., Al-Thihli, K., Baptista, J., Beleza-Meireles, A., Garel, C., Legendre, M., Gelot, A., Burglen, L., Moutton, S., Cantagrel, V.

مصطلحات موضوعية: Animals, Brain Diseases/pathology, Brain Stem, Cerebellum/abnormalities/pathology, Developmental Disabilities, Histone-Lysine N-Methyltransferase/genetics, Humans, Mice, Mutation/genetics, Nervous System Malformations, Neurogenesis/genetics, Purkinje Cells/metabolism, Transcription Factors/genetics, Zebrafish/metabolism, Prdm13, Purkinje cells, brainstem, cerebellum, inferior olive nuclei, neurodevelopment, neuronal specification, olivopontocerebellar hypoplasia, zebrafish

العلاقة: https://linkinghub.elsevier.com/retrieve/pii/S0002-9297Test(22)00106-9; Am J Hum Genet. 2022 May 5;109(5):909-927. doi:10.1016/j.ajhg.2022.03.010. Epub 2022 Apr 6.; https://rde.dspace-express.com/handle/11287/622634Test; American journal of human genetics; PMC9118116

الإتاحة: https://doi.org/10.1016/j.ajhg.2022.03.010Test
https://rde.dspace-express.com/handle/11287/622634Test

المؤلفون: Sompele, Stijn Van de, Small, Kent W., Burcu Cicekdal, Munevver, López Soriano, Víctor, D’haene, Eva, Shaya, Fadi S., Agemy, Steven, Snickt, Thijs Van der, Dueñas Rey, Alfredo, Rosseel, Toon, Heetvelde, Mattias Van, Vergult, Sarah, Balikova, Irina, Bergen, Arthur A., Boon, Camiel J.F., Zaeytijd, Julie De, Inglehearn, Chris F., Kousal, Bohdan, Leroy, Bart P., Rivolta, Carlo, Vaclavik, Veronika, Ende, Jenneke van den, Schooneveld, Mary J. van, Gómez-Skarmeta, José Luis, Tena, Juan J., Martínez-Morales, Juan Ramón, Liskova, Petra, Vleminckx, Kris, Baere, Elfride De

المساهمون: Ghent University, European Commission, Foundation Fighting Blindness, Research Foundation - Flanders

مصطلحات موضوعية: North Carolina macular dystrophy, NCMD, PRDM13, IRX1, Human retina, Multi-omics, UMI-4, Ccis-regulatory elements, CREswhole-genome sequencing, Non-coding single-nucleotide variants, SNVs, Enhanceropathy

وصف الملف: application/pdf

العلاقة: #PLACEHOLDER_PARENT_METADATA_VALUE#; info:eu-repo/grantAgreement/EC/H2020/813490; Publisher's version; http://dx.doi.org/10.1016/j.ajhg.2022.09.013Test; Sí; e-issn: 1537-6605; American Journal of Human Genetics 109(11): 2029-2048 (2022); http://hdl.handle.net/10261/286933Test; http://dx.doi.org/10.13039/501100003130Test; http://dx.doi.org/10.13039/100001116Test; http://dx.doi.org/10.13039/501100000780Test

الإتاحة: https://doi.org/10.1016/j.ajhg.2022.09.013Test
https://doi.org/10.13039/501100003130Test
https://doi.org/10.13039/100001116Test
https://doi.org/10.13039/501100000780Test
http://hdl.handle.net/10261/286933Test

المساهمون: Jiwon Woo, Byung-Ho Jin, Mirae Lee, Eunice Yoojin Lee, Hyung-Seok Moon, Jeong-Yoon Park, Yong-Eun Cho, Park, Jeong Yoon

مصطلحات موضوعية: Animals, Embryo, Mammalian, Embryonic Development / genetics, Gene Expression Regulation, Developmental / genetics, Histone-Lysine N-Methyltransferase / genetics, Imaging, Three-Dimensional / methods, Mice, Transcription Factors / genetics, IMPACT, PRDM10, PRDM13, embryo clearing, passive clearing technique, transparent embryo

العلاقة: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES; J01133; OAK-2021-00886; https://ir.ymlib.yonsei.ac.kr/handle/22282913/182329Test; T202101017; INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, Vol.22(6) : 2892, 2021-03

الإتاحة: https://doi.org/10.3390/ijms22062892Test
https://ir.ymlib.yonsei.ac.kr/handle/22282913/182329Test

المؤلفون: Nathalie Bessodes, Karine Parain, Odile Bronchain, Eric J. Bellefroid, Muriel Perron

المصدر: Neural Development, Vol 12, Iss 1, Pp 1-15 (2017)

مصطلحات موضوعية: Retina, Amacrine cells, Subtype specification, Prdm13, Ptf1a, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s13064-017-0093-2Test; https://doaj.org/toc/1749-8104Test

الوصول الحر: https://doaj.org/article/dfa85cf66cc04019934e852a9b065da5Test

المؤلفون: Silva, RS, Arno, G, Cipriani, V, Pontikos, N, Defoort-Dhellemmes, S, Kalhoro, A, Carss, KJ, Raymond, FL, Dhaenens, CM, Jensen, H, Rosenberg, T, Van Heyningen, V, Moore, AT, Puech, B, Webster, AR

المصدر: Human Mutation , 40 (5) pp. 578-587. (2019)

مصطلحات موضوعية: macular development, macular dystrophy, NCMD, PBCRA, PRDM13, whole genome sequencing

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10067652/1/Moore_Unique%20non-coding%20variants%20upstream%20of%20PRDM13%20are%20associated%20with%20a%20spectrum%20of%20developmental%20retinal%20dystrophies%20including%20Progressive%20Bifocal_AAM.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10067652Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10067652/1/Moore_Unique%20non-coding%20variants%20upstream%20of%20PRDM13%20are%20associated%20with%20a%20spectrum%20of%20developmental%20retinal%20dystrophies%20including%20Progressive%20Bifocal_AAM.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10067652Test/

المؤلفون: Kent W. Small, Stijn Van de Sompele, Jessica Avetisjan, Nitin Udar, Steven Agemy, Elfride De Baere, Fadi S. Shaya

المصدر: JOURNAL OF VITREORETINAL DISEASES

مصطلحات موضوعية: GENES, NCMD, inherited retinal diseases, VARIANT, REARRANGEMENTS, mutational, PRDM13, single nucleotide variants, SV, CAROLINA MACULAR DYSTROPHY, PHENOTYPE, MCDR1, DUPLICATION, COPY-NUMBER, whole-genome sequencing, DNase I site, Medicine and Health Sciences, BIFOCAL CHORIORETINAL ATROPHY, copy number variant, chromosome 6, hotspot, North Carolina macular dystrophy

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d800469665fa9512561f13909d4510daTest
https://hdl.handle.net/1854/LU-01GTHEVYCZYEWACGEMQGN894GETest

المؤلفون: Bessodes, Nathalie, Parain, Karine, Bronchain, Odile, Bellefroid, Eric, Perron, Muriel

المصدر: Neural Development, 12 (1

مصطلحات موضوعية: Sciences exactes et naturelles, retina, amacrine cells, subtype specification, Prdm13, Ptf1a

وصف الملف: 1 full-text file(s): application/pdf

العلاقة: uri/info:doi/10.1186/s13064-017-0093-2; uri/info:scp/85028642232; https://dipot.ulb.ac.be/dspace/bitstream/2013/248121/3/doi_231748.pdfTest; http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/248121Test

الإتاحة: http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/248121Test