المؤلفون: Laura Miguel Berenguel, Carla Gianelli, Elisabet Matas Pérez, Teresa del Rosal, Ana Méndez Echevarría, Ángel Robles Marhuenda, Marta Feito Rodríguez, Maria Teresa Caballero Molina, Lorena Magallares García, Brenda Sánchez Garrido, Samantha Hita Díaz, Luis Allende Martínez, Pilar Nozal Aranda, Carmen Cámara Hijón, Eduardo López Granados, Rebeca Rodríguez Pena, María Bravo García-Morato

المصدر: Frontiers in Immunology, Vol 15 (2025)

مصطلحات موضوعية: splicing mutations, reverse-transcription PCR (RT-PCR), inborn errors of immunity, genetic validation algorithm, canonical sites of splicing, deep-intronic variants, Immunologic diseases. Allergy, RC581-607

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fimmu.2024.1499415/full; https://doaj.org/toc/1664-3224

URL الوصول: https://doaj.org/article/574d0fce45064113a869336ebfabc08a

المؤلفون: Nicole Midgley, George Rebello, Lara K. Holtes, Raj Ramesar, Lisa Roberts

المصدر: Molecular Genetics & Genomic Medicine, Vol 12, Iss 12, Pp n/a-n/a (2024)

مصطلحات موضوعية: deep intronic variants, inherited retinal disease, targeted next‐generation sequencing, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/9a7619c61ce64315b160d967b9cd1334

المؤلفون: Irene Vázquez-Domínguez, Mert Öktem, Florian A. Winkelaar, Thai Hoang Nguyen, Anita D.M. Hoogendoorn, Eleonora Roschi, Galuh D.N. Astuti, Raoul Timmermans, Nuria Suárez-Herrera, Ilaria Bruno, Albert Ruiz-Llombart, Joseph Brealey, Olivier G. de Jong, Rob W.J. Collin, Enrico Mastrobattista, Alejandro Garanto

المصدر: Molecular Therapy: Nucleic Acids, Vol 35, Iss 4, Pp 102345- (2024)

مصطلحات موضوعية: MT: RNA/DNA Editing, peptide-mediated delivery, CRISPR-Cas9 genome editing, lipopeptide, intron removal, ABCA4 deep-intronic variants, Therapeutics. Pharmacology, RM1-950

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2162253124002324; https://doaj.org/toc/2162-2531

URL الوصول: https://doaj.org/article/9cd8756ec318431f8076236a1e749258

المؤلفون: Roberta Zeuli, Marianthi Karali, Suzanne E. de Bruijn, Kim Rodenburg, Margherita Scarpato, Dalila Capasso, Galuh D.N. Astuti, Christian Gilissen, María Rodríguez-Hidalgo, Javier Ruiz-Ederra, Francesco Testa, Francesca Simonelli, Frans P.M. Cremers, Sandro Banfi, Susanne Roosing

المصدر: HGG Advances, Vol 5, Iss 3, Pp 100314- (2024)

مصطلحات موضوعية: WGS, inherited retinal diseases, IRD, unsolved monoallelic cases, deep intronic variants, DIVs, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666247724000538; https://doaj.org/toc/2666-2477

URL الوصول: https://doaj.org/article/e17626b213a24c63b6a4df65247a5db9

المؤلفون: Maggi, Jordi, Koller, Samuel, Feil, Silke, Bachmann-Gagescu, Ruxandra, Gerth-Kahlert, Christina, Berger, Wolfgang

المصدر: Maggi, Jordi; Koller, Samuel; Feil, Silke; Bachmann-Gagescu, Ruxandra; Gerth-Kahlert, Christina; Berger, Wolfgang (2024). Limited Added Diagnostic Value of Whole Genome Sequencing in Genetic Testing of Inherited Retinal Diseases in a Swiss Patient Cohort. International Journal of Molecular Sciences, 25(6540):6540.

مصطلحات موضوعية: Ophthalmology Clinic, Institute of Medical Genetics, Institute of Medical Molecular Genetics, Zurich Center for Integrative Human Physiology (ZIHP), Neuroscience Center Zurich, 570 Life sciences, biology, 610 Medicine & health, Genetics, Genetics (clinical), whole genome sequencing, WGS, whole exome sequencing, WES, added diagnostic value, diagnostic yield, genetic testing, molecular diagnostics, inherited retinal dystrophy, IRD, structural variants, SVs, copy number variants, CNVs, deep-intronic variants

وصف الملف: application/pdf

Relation: https://www.zora.uzh.ch/id/eprint/260621/1/ZORA_pdf_version_1718882200.pdf; https://www.zora.uzh.ch/id/eprint/260621/6/Manuscript_WGS_Table_S1.pdf; https://www.zora.uzh.ch/id/eprint/260621/7/Manuscript_WGS_Table_S2.pdf; https://www.zora.uzh.ch/id/eprint/260621/8/Manuscript_WGS_Table_S3.pdf; https://www.zora.uzh.ch/id/eprint/260621/9/Manuscript_WGS_Figure_S1.pdf; info:pmid/38928247; urn:issn:1422-0067

الاتاحة: https://www.zora.uzh.ch/id/eprint/260621/
https://www.zora.uzh.ch/id/eprint/260621/1/ZORA_pdf_version_1718882200.pdf
https://www.zora.uzh.ch/id/eprint/260621/6/Manuscript_WGS_Table_S1.pdf
https://www.zora.uzh.ch/id/eprint/260621/7/Manuscript_WGS_Table_S2.pdf
https://www.zora.uzh.ch/id/eprint/260621/8/Manuscript_WGS_Table_S3.pdf
https://www.zora.uzh.ch/id/eprint/260621/9/Manuscript_WGS_Figure_S1.pdf
https://doi.org/10.3390/ijms25126540

المؤلفون: Bergougnoux, Anne, Deletang, K., Pommier, A., Varilh, J., Houriez, F., Altieri, J. P., Koenig, M., Ferec, Claude, Claustres, M., Lalau, Guy, Bienvenu, Thierry, Audrezet, M. P., Pagin, Adrien, Girodon, E., Raynal, C., Taulan-Cadars, M.

المساهمون: CHU Lille, Institut Pasteur de Lille, Université de Lille, IMPact de l'Environnement Chimique sur la Santé humaine (IMPECS) - ULR 4483

مصطلحات موضوعية: Splicing alteration, CFTR gene, Deep intronic variants, Large phenotypic spectrum, Pseudo-exon inclusion

وصف الملف: application/octet-stream

Relation: Journal of Cystic Fibrosis; J. Cyst. Fibros.; http://hdl.handle.net/20.500.12210/59719

الاتاحة: https://hdl.handle.net/20.500.12210/59719

المؤلفون: Zelia Corradi, Mubeen Khan, Rebekkah Hitti-Malin, Ketan Mishra, Laura Whelan, Stéphanie S. Cornelis, Carel B. Hoyng, Kati Kämpjärvi, Caroline C.W. Klaver, Petra Liskova, Heidi Stöhr, Bernhard H.F. Weber, Sandro Banfi, G. Jane Farrar, Dror Sharon, Jana Zernant, Rando Allikmets, Claire-Marie Dhaenens, Frans P.M. Cremers

المصدر: HGG Advances, Vol 4, Iss 4, Pp 100237- (2023)

مصطلحات موضوعية: ABCA4, ABCA4-associated retinopathies, missing heritability, smMIPs sequencing, deep-intronic variants, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666247723000696; https://doaj.org/toc/2666-2477

URL الوصول: https://doaj.org/article/a1a8d45cbb204fa082951b43db411a0f

المؤلفون: Fadaie, Zeinab, Khan, Mubeen, Del Pozo‐Valero, Marta, Cornelis, Stéphanie S, Ayuso, Carmen, Cremers, Frans PM, Roosing, Susanne, group, The ABCA4 study

المصدر: Human Mutation. 40(12)

مصطلحات موضوعية: Genetics, Aetiology, 2.1 Biological and endogenous factors, ATP-Binding Cassette Transporters, Alternative Splicing, Gene Expression Regulation, HEK293 Cells, Humans, Introns, Mutation, Phenotype, RNA Splice Sites, Retinal Diseases, Sequence Analysis, DNA, ABCA4, deep-intronic variants, noncanonical splice site variant, splice enhancers, splice silencers, Stargardt disease, Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/4pv716bw

المؤلفون: Pietro De Angeli, Peggy Reuter, Stefan Hauser, Ludger Schöls, Katarina Stingl, Bernd Wissinger, Susanne Kohl

المصدر: Molecular Therapy: Nucleic Acids, Vol 29, Iss , Pp 511-524 (2022)

مصطلحات موضوعية: MT: RNA/DNA editing, ABCA4, Stargardt disease, STGD1, inherited retinal dystrophy, deep-intronic variants, Therapeutics. Pharmacology, RM1-950

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2162253122001925; https://doaj.org/toc/2162-2531

URL الوصول: https://doaj.org/article/379b0f4c69d34e55b3282af868f8405c

المؤلفون: Olga Levchenko, Alexandra Filatova, Irina Mishina, Aleksey Antonenko, Mikhail Skoblov

المصدر: Frontiers in Genetics, Vol 14 (2023)

مصطلحات موضوعية: ataxia, intellectual and developmental disabilities, SCAR20, deep intronic variants, SNX14 gene, whole genome sequencing, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2023.1197681/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/b443b4f5e9884f8bb8f8683f723842f8

المؤلفون: Nassisi, Marco, Mohand-Said, Saddek, Andrieu, Camille, Antonio, Aline, Condroyer, Christel, Mejecase, Cecile, Varin, Juliette, Wohlschlegel, Juliette, DHAENENS, Claire-Marie, Sahel, Jose-Alain, Zeitz, Christina, Audo, Isabelle

المساهمون: CHU Lille, Inserm, Université de Lille, Centre d'investigation clinique Quinze-Vingts CHNO CIC1423 - CIC QUINZE-VINGTS, Institut de la Vision, Lille Neurosciences & Cognition (LilNCog) - U 1172

مصطلحات موضوعية: ABCA4, Stargardt disease, genotype-phenotype correlation, deep-intronic variants

وصف الملف: application/rdf+xml; charset=utf-8; application/pdf

Relation: International Journal of Molecular Sciences; Int J Mol Sci; http://hdl.handle.net/20.500.12210/40133

الاتاحة: https://hdl.handle.net/20.500.12210/40133

المؤلفون: Alejandra Tamayo, Gonzalo Núñez-Moreno, Carolina Ruiz, Julie Plaisancie, Alejandra Damian, Jennifer Moya, Nicolas Chassaing, Patrick Calvas, Carmen Ayuso, Pablo Minguez, Marta Corton

المصدر: International Journal of Molecular Sciences; Volume 24; Issue 2; Pages: 1562

مصطلحات موضوعية: PAX6, congenital aniridia, non-canonical splicing sites, deep-intronic variants, minigene splicing assays, long-read sequencing, MinION nanopore sequencing

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Genetics and Genomics; https://dx.doi.org/10.3390/ijms24021562

الاتاحة: https://doi.org/10.3390/ijms24021562

المؤلفون: Polina Tsygankova, Igor Bychkov, Marina Minzhenkova, Natalia Pechatnikova, Lyudmila Bessonova, Galina Buyanova, Irina Naumchik, Nikita Beskorovainiy, Vyacheslav Tabakov, Yulia Itkis, Nadezhda Shilova, Ekaterina Zakharova

المصدر: Molecular Genetics and Metabolism Reports, Vol 32, Iss , Pp 100889- (2022)

مصطلحات موضوعية: Pyruvate carboxylase deficiency, Reciprocal translocations, Deep intronic variants, WES, WGS, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426922000490; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/3b023d91c24c4a228d7b9d0076ffc9e3

المؤلفون: Xiufang Zhi, Qi Ai, Wenchao Sheng, Yuping Yu, Jianbo Shu, Changshun Yu, Xiaoli Yu, Dong Li, Chunquan Cai

المصدر: Frontiers in Genetics, Vol 13 (2022)

مصطلحات موضوعية: ATP7A gene, Menkes disease, whole genome sequencing, RNA sequencing, deep intronic variants, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2022.852764/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/dbcde37c53c74d19aca14c96d33370b2

المؤلفون: Vita Šetrajčič Dragoš, Ksenija Strojnik, Gašper Klančar, Petra Škerl, Vida Stegel, Ana Blatnik, Marta Banjac, Mateja Krajc, Srdjan Novaković

المصدر: International Journal of Molecular Sciences; Volume 23; Issue 13; Pages: 7446

مصطلحات موضوعية: aberrant splicing, deep intronic variants, in silico prediction tools, hereditary cancer syndrome, pseudoexon, reclassification, RNAseq, spliceogenic, spliceogenic variant, splice variant, VUS, VUS reclassification

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Biology; https://dx.doi.org/10.3390/ijms23137446

الاتاحة: https://doi.org/10.3390/ijms23137446

المؤلفون: De Angeli, Pietro, Reuter, Peggy, Hauser, Stefan, Schöls, Ludger, Stingl, Katarina, Wissinger, Bernd, Kohl, Susanne

المصدر: Molecular Therapy / Nucleic Acids 29, 511 - 524 (2022). doi:10.1016/j.omtn.2022.07.023

مصطلحات موضوعية: info:eu-repo/classification/ddc/610, ABCA4, CRISPR-Cas9, MT: RNA/DNA editing, Photoreceptor precursor cells, STGD1, Stargardt disease, deep-intronic variants, genome editing, inherited retinal dystrophy, splicing

جغرافية الموضوع: DE

Relation: info:eu-repo/semantics/altIdentifier/pmid/pmid:35991315; info:eu-repo/semantics/altIdentifier/issn/2162-2531; https://pub.dzne.de/record/165169; https://pub.dzne.de/search?p=id:%22DZNE-2022-01471%22

الاتاحة: https://pub.dzne.de/record/165169
https://pub.dzne.de/search?p=id:%22DZNE-2022-01471%22

المؤلفون: Fei Song, Marta Owczarek-Lipska, Tim Ahmels, Marius Book, Sabine Aisenbrey, Moreno Menghini, Daniel Barthelmes, Stefan Schrader, Georg Spital, John Neidhardt

المصدر: Genes; Volume 12; Issue 8; Pages: 1269

مصطلحات موضوعية: retinal dystrophy, mutations, novel variant, whole exome sequencing, Sanger sequencing, deep-intronic variants

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Genetics and Genomics; https://dx.doi.org/10.3390/genes12081269

الاتاحة: https://doi.org/10.3390/genes12081269

المؤلفون: Alejandro Moles-Fernández, Joanna Domènech-Vivó, Anna Tenés, Judith Balmaña, Orland Diez, Sara Gutiérrez-Enríquez

المصدر: Cancers; Volume 13; Issue 13; Pages: 3341

مصطلحات موضوعية: spliceogenic deep intronic variants, pseudoexons, cryptic splice sites, splicing regulatory elements, hereditary breast ovarian cancer, in silico prediction tools

وصف الملف: application/pdf

Relation: Cancer Informatics and Big Data; https://dx.doi.org/10.3390/cancers13133341

الاتاحة: https://doi.org/10.3390/cancers13133341

المؤلفون: Izarbe Aísa-Marín, Rocío García-Arroyo, Serena Mirra, Gemma Marfany

المصدر: International Journal of Molecular Sciences; Volume 22; Issue 4; Pages: 1855

مصطلحات موضوعية: retina, alternative splicing, inherited retinal dystrophies, splicing factors, non-canonical splice site variants, deep intronic variants, microexons

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Genetics and Genomics; https://dx.doi.org/10.3390/ijms22041855

الاتاحة: https://doi.org/10.3390/ijms22041855

المؤلفون: Xin-Ying Tang, Jin-Huan Lin, Wen-Bin Zou, Emmanuelle Masson, Arnaud Boulling, Shun-Jiang Deng, David N. Cooper, Zhuan Liao, Claude Férec, Zhao-Shen Li, Jian-Min Chen

المصدر: Human Genomics, Vol 13, Iss 1, Pp 1-11 (2019)

مصطلحات موضوعية: Aberrant splicing, Alamut software suite, Chronic pancreatitis, Cryptic splice site, Deep intronic variants, genomAD, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s40246-019-0193-7; https://doaj.org/toc/1479-7364

URL الوصول: https://doaj.org/article/d2097150466a4c6ebdcaafd6c1eac56c