المؤلفون: Haizhu Chen, Ying Zheng, Hua Wu, Naiqing Cai, Guorong Xu, Yi Lin, Jin-Jing Li

المصدر: Frontiers in Neurology, Vol 15 (2024)

مصطلحات موضوعية: microcephaly, autosomal recessive primary microcephaly type 2, WDR62 mutation, epilepsy, consanguineous marriage, brain malformation, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2024.1341864/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/f63a3d526d974c7ca4072f172e4be996

المؤلفون: Tahereh Dianat, Dor Mohammad Kordi Tamandani, Maryam Najafi, Ali Khajeh

المصدر: Disease and Diagnosis, Vol 11, Iss 4, Pp 142-146 (2022)

مصطلحات موضوعية: mcph2, whole exome sequencing, wdr62 gene, mtr gene, Medicine

وصف الملف: electronic resource

Relation: https://ddj.hums.ac.ir/PDF/ddj-11-142.pdf; https://doaj.org/toc/2717-3232

URL الوصول: https://doaj.org/article/6d177938d08141c5910bd8edf58ed533

المؤلفون: Claudia Dell'Amico, Marilyn M Angulo Salavarria, Yutaka Takeo, Ichiko Saotome, Maria Teresa Dell'Anno, Maura Galimberti, Enrica Pellegrino, Elena Cattaneo, Angeliki Louvi, Marco Onorati

المصدر: eLife, Vol 12 (2023)

مصطلحات موضوعية: microcephaly, MCPH, WDR62, neurodevelopmental disorders, iPSCs, disease modeling, Medicine, Science, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://elifesciences.org/articles/81716; https://doaj.org/toc/2050-084X

URL الوصول: https://doaj.org/article/1d4841c517794d1fae7c77b292a1a852

المؤلفون: Lili Hao, Jing Ma, Feizhen Wu, Xiaojing Ma, Maoxiang Qian, Wei Sheng, Tizhen Yan, Ning Tang, Xin Jiang, Bowen Zhang, Deyong Xiao, Yanyan Qian, Jin Zhang, Nan Jiang, Wenhao Zhou, Weicheng Chen, Duan Ma, Guoying Huang

المصدر: Clinical and Translational Medicine, Vol 12, Iss 7, Pp n/a-n/a (2022)

مصطلحات موضوعية: cardiomyocyte proliferation, cell cycle, congenital heart disease, spindle assembly, the WDR62 gene, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2001-1326

URL الوصول: https://doaj.org/article/1daa3881ffb34fae8409bd6a1be7e4de

المؤلفون: D. M. Guseva, E. L. Dadali

المصدر: Нервно-мышечные болезни, Vol 10, Iss 3, Pp 74-79 (2020)

مصطلحات موضوعية: primary microcephaly, mri of the brain, brain defects, wdr62 gene, clinical polymorphism, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://nmb.abvpress.ru/jour/article/view/400; https://doaj.org/toc/2222-8721; https://doaj.org/toc/2413-0443

URL الوصول: https://doaj.org/article/760a48b15d544fa1a006b0c0ab45f5b8

المؤلفون: Ping Zhou, Xin Ding, Qi Zeng, Huafang Zou, Jianxiang Liao, Dezhi Cao

المصدر: Acta Epileptologica, Vol 2, Iss 1, Pp 1-6 (2020)

مصطلحات موضوعية: Autosomal recessive primary microcephaly 2, WDR62, West syndrome, Refractory epilepsy, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s42494-020-00012-2; https://doaj.org/toc/2524-4434

URL الوصول: https://doaj.org/article/34af2326ae414d8895880cf5abbec5ab

المؤلفون: Sa?er S.G., Çebi A.H., Akln Y., Onay H., Özklnay F., Bolat H., Türkyllmaz A.

مصطلحات موضوعية: Autosomal recessive, ASPM, MCPH, Novel variant, WDR62, Whole-exome sequencing

Relation: Molecular Syndromology; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://hdl.handle.net/11454/79722; https://doi.org/10.1159/000524391; 13; 363; 369

الاتاحة: https://hdl.handle.net/11454/79722
https://doi.org/10.1159/000524391

المؤلفون: Juanjuan Cai, Lingling Su, Weiwei Luo

المصدر: Bioengineered, Vol 13, Iss 6, Pp 14450-14459 (2022)

مصطلحات موضوعية: WDR62, oxaliplatin resistance, proliferation, apoptosis, DNA damage repair, colorectal cancer, Biotechnology, TP248.13-248.65

Relation: https://doaj.org/toc/2165-5979; https://doaj.org/toc/2165-5987; https://doaj.org/article/d09ee76df94c49678bd1105914ccdfe6

الاتاحة: https://doi.org/10.1080/21655979.2022.2086381
https://doaj.org/article/d09ee76df94c49678bd1105914ccdfe6

المؤلفون: Vulto-van Silfhout, Anneke T, Nakagawa, Tadashi, Bahi-Buisson, Nadia, Haas, Stefan A, Hu, Hao, Bienek, Melanie, Vissers, Lisenka ELM, Gilissen, Christian, Tzschach, Andreas, Busche, Andreas, Müsebeck, Jörg, Rump, Patrick, Mathijssen, Inge B, Avela, Kristiina, Somer, Mirja, Doagu, Fatma, Philips, Anju K, Rauch, Anita, Baumer, Alessandra, Voesenek, Krysta, Poirier, Karine, Vigneron, Jacqueline, Amram, Daniel, Odent, Sylvie, Nawara, Magdalena, Obersztyn, Ewa, Lenart, Jacek, Charzewska, Agnieszka, Lebrun, Nicolas, Fischer, Ute, Nillesen, Willy M, Yntema, Helger G, Järvelä, Irma, Ropers, Hans-Hilger, de Vries, Bert BA, Brunner, Han G, van Bokhoven, Hans, Raymond, F Lucy, Willemsen, Michèl AAP, Chelly, Jamel, Xiong, Yue, Barkovich, A James, Kalscheuer, Vera M, Kleefstra, Tjitske, de Brouwer, Arjan PM

المصدر: Human Mutation. 36(1)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Clinical Research, Intellectual and Developmental Disabilities (IDD), Brain Disorders, Neurosciences, Pediatric, Rare Diseases, Congenital Structural Anomalies, Aetiology, 2.1 Biological and endogenous factors, Neurological, Adolescent, Adult, Brain, Cell Cycle Proteins, Cells, Cultured, Child, Child, Preschool, Cullin Proteins, Genetic Association Studies, HEK293 Cells, Humans, Infant, Male, Malformations of Cortical Development, Mental Retardation, X-Linked, Middle Aged, Nerve Tissue Proteins, Pedigree, Sequence Analysis, DNA, Young Adult, CUL4B, WDR62, cortical dysplasia, hydrocephalus, intellectual disability, mutation, Clinical Sciences, Genetics & Heredity, Clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/7h5466vk

المؤلفون: Yiqiang Zhi, Xiaokun Zhou, Jurui Yu, Ling Yuan, Hongsheng Zhang, Dominic C. H. Ng, Zhiheng Xu, Dan Xu

المصدر: Frontiers in Cell and Developmental Biology, Vol 9 (2021)

مصطلحات موضوعية: WDR62, JNK signaling, neurological disorders, reproductive diseases, tumorigenesis, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fcell.2021.640753/full; https://doaj.org/toc/2296-634X

URL الوصول: https://doaj.org/article/9fbd1c0680c649d8ae28d1074607a095

المؤلفون: Duerinckx, Sarah, Désir, Julie, Perazzolo, Camille, Badoer, Cindy, Jacquemin, Valérie, Soblet, Julie, Maystadt, Isabelle, Tunca, Yusuf, Blaumeiser, Bettina, Ceulemans, Berten, Courtens, Winnie, Debray, François‐Guillaume, Destree, Anne, Devriendt, Koenraad, Jansen, Anna, Keymolen, Kathelijn, Lederer, Damien, Loeys, Bart, Meuwissen, Marije, Moortgat, Stéphanie, Mortier, Geert, Nassogne, Marie‐Cécile, Sekhara, Tayeb, Van Coster, Rudy, Van Den Ende, Jenny, Van der Aa, Nathalie, Van Esch, Hilde, Vanakker, Olivier, Verhelst, Helene, Vilain, Catheline, Weckhuysen, Sarah, Passemard, Sandrine, Verloes, Alain, Aeby, Alec, Deconinck, Nicolas, Van Bogaert, Patrick, Pirson, Isabelle, Abramowicz, Marc

المصدر: MOLECULAR GENETICS & GENOMIC MEDICINE ; ISSN: 2324-9269

مصطلحات موضوعية: Medicine and Health Sciences, Genetics (clinical), Genetics, Molecular Biology, brain developmental disorders, consanguinity, epilepsy, Mendeliome, primary microcephaly, rare disease, PRENATAL-DIAGNOSIS, SEQUENCE VARIANTS, ASPM MUTATIONS, FAMILIES, PROTEIN, WDR62, HETEROGENEITY, FRAMEWORK, SNPS

وصف الملف: application/pdf

Relation: https://biblio.ugent.be/publication/8743476; http://hdl.handle.net/1854/LU-8743476; http://dx.doi.org/10.1002/mgg3.1768; https://biblio.ugent.be/publication/8743476/file/8743477

الاتاحة: https://biblio.ugent.be/publication/8743476
http://hdl.handle.net/1854/LU-8743476
https://doi.org/10.1002/mgg3.1768
https://biblio.ugent.be/publication/8743476/file/8743477

المؤلفون: Ryszard Slezak, Robert Smigiel, Ewa Obersztyn, Agnieszka Pollak, Mateusz Dawidziuk, Wojciech Wiszniewski, Monika Bekiesinska-Figatowska, Malgorzata Rydzanicz, Rafal Ploski, Pawel Gawlinski

المصدر: Genes; Volume 12; Issue 4; Pages: 594

مصطلحات موضوعية: WDR62 gene, intellectual disability, microcephaly, MCPH2

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes12040594

الاتاحة: https://doi.org/10.3390/genes12040594

المؤلفون: Imane Cherkaoui Jaouad, Abdelali Zrhidri, Wafaa Jdioui, Jaber Lyahyai, Laure Raymond, Grégory Egéa, Mohamed Taoudi, Said El Mouatassim, Abdelaziz Sefiani

المصدر: BMC Medical Genetics, Vol 19, Iss 1, Pp 1-5 (2018)

مصطلحات موضوعية: Autosomal recessive primary microcephaly, Genetic heterogeneity, WDR62, Whole exome sequencing, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12881-018-0625-6; https://doaj.org/toc/1471-2350

URL الوصول: https://doaj.org/article/196ce69523b143688964aa9e70701aa6

المؤلفون: Duerinckx, S., Désir, J., Perazzolo, C., Badoer, C., Jacquemin, V., Soblet, J., Maystadt, I., Tunca, Y., Blaumeiser, B., Ceulemans, B., COURTENS, Winnie, Debray, François-Guillaume, Destree, A., Devriendt, K., Jansen, A., Keymolen, K., Lederer, D., Loeys, B., Meuwissen, M., Moortgat, S., Mortier, G., Nassogne, M.-C., Sekhara, T., Van Coster, R., Van Den Ende, J., Van der Aa, N., Van Esch, H., Vanakker, O., Verhelst, H., Vilain, C., Weckhuysen, S., Passemard, S., Verloes, A., Aeby, A., Deconinck, N., Van Bogaert, P., Pirson, I., Abramowicz, M.

المصدر: Molecular Genetics and Genomic Medicine, 9 (9) (2021)

مصطلحات موضوعية: brain developmental disorders, consanguinity, epilepsy, Mendeliome, primary microcephaly, rare disease, ASPM protein, human, cell cycle protein, nerve protein, WDR62 protein, human, child, complication, female, gene frequency, genetic heterogeneity, genetics, genotype, human, incidence, male, microcephaly, pathology, phenotype, Cell Cycle Proteins, Child, Consanguinity, Epilepsy, Female, Gene Frequency, Genetic Heterogeneity, Genotype, Humans, Incidence, Male, Microcephaly, Nerve Tissue Proteins, Phenotype, Life sciences, Genetics & genetic processes, Sciences du vivant, Génétique & processus génétiques

Relation: urn:issn:2324-9269

URL الوصول: https://orbi.uliege.be/handle/2268/312113

المؤلفون: Nicholas R. Lim, Belal Shohayeb, Olga Zaytseva, Naomi Mitchell, S. Sean Millard, Dominic C.H. Ng, Leonie M. Quinn

المصدر: Stem Cell Reports, Vol 9, Iss 1, Pp 32-41 (2017)

مصطلحات موضوعية: neuroblast, glia, WD-repeat protein, WDR62, AURKA, mitosis, Drosophila, brain, microcephaly, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2213671117302229; https://doaj.org/toc/2213-6711

URL الوصول: https://doaj.org/article/7fa5518e5b1442dea2c96eabdf243eb7

المؤلفون: Auladell, Carme, Camins, Antoni, Folch, Jaume, Beas-Zarate, Carlos, Etchetto, Miren, Olloquequi, Jordi, Verdaguer, Ester, Parcerisas, Antoni, Busquets, Oriol, Castro-Torres, Ruben Dario

المساهمون: Universitat Rovira i Virgili

المصدر: Cells ; 10.3390/cells9081897 ; Cells. 9 (8)

مصطلحات موضوعية: Cell Biology, Wdr62, Synaptogenesis, Synaptic function, Signaling pathway, Scg10, Scaffold proteins, Phosphorylation, Nmdar, N-terminal kinase, Migration, Map1b, Jnk1, Induced neurite outgrowth, Distinct roles, Dcx, Axon elongation, Asymmetric division, Activation

Relation: http://hdl.handle.net/20.500.11797/imarina8679850

الاتاحة: https://hdl.handle.net/20.500.11797/imarina8679850

المؤلفون: Castro-Torres, Rubén D., Busquets, Oriol, Parcerisas, Antoni, Verdaguer, Ester, Olloquequi, Jordi, Ettcheto, Miren, Beas-Zarate, Carlos, Folch, Jaume, Camins, Antoni, Auladell, Carme

مصطلحات موضوعية: JNK1, Migration, Asymmetric division, Synaptogenesis, NMDAR, WDR62, SCG10, MAP1B, DCX

وصف الملف: application/pdf

Relation: Cells; Vol. 9 (august 2020); https://ddd.uab.cat/record/252859; urn:10.3390/cells9081897; urn:oai:ddd.uab.cat:252859; urn:pmcid:PMC7466125; urn:pmc-uid:7466125; urn:pmid:32823764; urn:oai:pubmedcentral.nih.gov:7466125

الاتاحة: https://ddd.uab.cat/record/252859

المؤلفون: Rubén Castro-Torres, Oriol Busquets, Antoni Parcerisas, Ester Verdaguer, Jordi Olloquequi, Miren Ettcheto, Carlos Beas-Zarate, Jaume Folch, Antoni Camins, Carme Auladell

المصدر: Cells; Volume 9; Issue 8; Pages: 1897

مصطلحات موضوعية: JNK1, migration, asymmetric division, synaptogenesis, NMDAR, WDR62, SCG10, MAP1B, DCX

وصف الملف: application/pdf

Relation: Cell Signaling; https://dx.doi.org/10.3390/cells9081897

الاتاحة: https://doi.org/10.3390/cells9081897

المؤلفون: You Gyoung Yi, Dong-Woo Lee, Jaewon Kim, Ja-Hyun Jang, Sae-Mi Lee, Dae-Hyun Jang

المصدر: Frontiers in Pediatrics, Vol 7 (2019)

مصطلحات موضوعية: autosomal recessive primary microcephaly (MCPH), exome sequencing test, novel mutation, WDR62 gene mutation, neurodevelopment, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fped.2019.00457/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/ea693d8fb5214c40ad4afbd7c1df7876

المؤلفون: ELÇİOĞLU, HURİYE NURSEL

المساهمون: McSherry, Megan, Masih, Katherine E., Elcioglu, Nursel H., Celik, Pelin, Balci, Ozge, Cengiz, Filiz Basak, Nunez, Daniella, Sineni, Claire J., Seyhan, Serhat, Kocaoglu, Defne, Guo, Shengru, Duman, Duygu, Bademci, Guney, Tekin, Mustafa

مصطلحات موضوعية: COPY-NUMBER VARIATION, MENTAL-RETARDATION, MUTATIONS, WDR62, ASPM, FAMILIES, PROTEIN, SLC9A6, ASSOCIATION, DISCOVERY

وصف الملف: application/pdf

Relation: PLOS ONE; https://hdl.handle.net/11424/242282; WOS:000451883700033

الاتاحة: https://hdl.handle.net/11424/242282
https://doi.org/10.1371/journal.pone.0208324