-
1
المؤلفون: Miya Kudo Høffding, Eva Hoffmann, Vallari Shukla
المصدر: Shukla, V, Høffding, M K & Hoffmann, E R 2021, ' Genome diversity and instability in human germ cells and preimplantation embryos ', Seminars in Cell and Developmental Biology, vol. 113, pp. 132-147 . https://doi.org/10.1016/j.semcdb.2020.12.007Test
Seminars in Cell & Developmental Biologyمصطلحات موضوعية: 0301 basic medicine, Genome instability, Infertility, Rearrangements, DNA repair, DNA damage, Embryonic Development, Aneuploidy, Biology, DNA damage response, Genome, Article, Genomic Instability, 03 medical and health sciences, 0302 clinical medicine, Genome editing, medicine, Humans, Human oocytes and embryos, CNVs, Genetics, Genomic disorders, Cell Biology, medicine.disease, Germ Cells, 030104 developmental biology, Homologous recombination, 030217 neurology & neurosurgery, Developmental Biology
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::993ccc5178d17c191d6f8a25e2f2ca12Test
https://doi.org/10.1016/j.semcdb.2020.12.007Test -
2
المؤلفون: Elena Caldana, Marianna Paulis, Takahiko Hara, Alessandra Castelli, Paolo Vezzoni, Stefano Mantero, Letizia Straniero, Lucia Sergi Sergi, Stefano Duga, Anna Villa, Lucia Susani, Teruhiko Suzuki, Dario Strina
المصدر: Molecular Therapy. Methods & Clinical Development
Molecular Therapy: Methods & Clinical Development, Vol 17, Iss, Pp 369-377 (2020)مصطلحات موضوعية: 0301 basic medicine, lcsh:QH426-470, induced pluripotent stem cells, Chromosome Transfer, Genetic enhancement, chromosome transplantation, Biology, medicine.disease_cause, Article, chromosome transfer, Viral vector, 03 medical and health sciences, 0302 clinical medicine, Genetics, medicine, lcsh:QH573-671, genomic disorders, Induced pluripotent stem cell, Molecular Biology, X chromosome, Mutation, lcsh:Cytology, Chromosome, Transplantation, lcsh:Genetics, 030104 developmental biology, 030220 oncology & carcinogenesis, Cancer research, Molecular Medicine, genetic therapy
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b471f95de550c0d42cc86fcb06387b92Test
https://doi.org/10.1016/j.omtm.2020.01.003Test -
3
المؤلفون: Catherine J. Chu, Naomi Meeks, Feyza Yilmaz, Yulia Mostovoy, Chin Lin, Pui-Yan Kwok, Curtis R. Coughlin, Elizabeth A. Geiger, Tamim H. Shaikh, Stephen K. Chow, Urvashi Surti, Kathryn C. Chatfield
المساهمون: Shendure, J
المصدر: Genetics, vol 217, iss 2
Geneticsمصطلحات موضوعية: Heart Defects, Congenital, Williams Syndrome, Developmental Disabilities, Population, Locus (genetics), Chromosome Disorders, Biology, Chromosomes, Structural variation, Craniofacial Abnormalities, 03 medical and health sciences, Congenital, Chromosome Breakpoints, Segmental Duplications, Genomic, 0302 clinical medicine, Gene mapping, Seizures, Intellectual Disability, Genotype, Genetics, Humans, 2.1 Biological and endogenous factors, Aetiology, Repeated sequence, education, genomic disorders, segmental duplications, 030304 developmental biology, Segmental duplication, Heart Defects, Investigation, Chromosomes, Human, Pair 15, 0303 health sciences, education.field_of_study, Pair 16, Mental Disorders, Breakpoint, Human Genome, Pair 15, structural variation, 030220 oncology & carcinogenesis, Genomic Structural Variation, Genomic, genome mapping, Chromosome Deletion, Chromosomes, Human, Pair 16, Human, Developmental Biology
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0eaeab5762aa68104935b8aa68d68d4eTest
https://escholarship.org/uc/item/15562671Test -
4
المؤلفون: Flora Y. Wong, Nicole J. Lake, Michael T. Ryan, Anne Marie E. Welch, Kazuhiro R. Nitta, Sarah E. Calvo, Yoshihito Kishita, Daniella H Hock, David A. Stroud, Simone Tregoning, Gareth Baynam, Michael Rodriguez, André E. Minoche, Susan Arbuckle, Kaustuv Bhattacharya, Yasushi Okazaki, David J. Amor, Akira Ohtake, George McGillivray, John Christodoulou, R. Jeroen Vermeulen, Mary Louise Freckmann, Atsuko Imai-Okazaki, Shanti Balasubramaniam, Carolyn Ellaway, Luke E. Formosa, David R. Thorburn, Marjo S van der Knaap, Alison G. Compton, Rocio Rius, Janice M. Fletcher, Mark J. Cowley, Cas Simons, Ann E. Frazier, Kei Murayama, Alexis Lucattini, Ryan J. Taft, Barry Lewis, David Francis, Simon Sadedin, Sumudu S.C. Amarasekera, Jafar S. Jabbari, Vamsi K. Mootha, Min Wang, Esko Wiltshire
المساهمون: Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Pediatric surgery, Functional Genomics, Klinische Neurowetenschappen, MUMC+: MA Med Staf Spec Neurologie (9), RS: MHeNs - R1 - Cognitive Neuropsychiatry and Clinical Neuroscience
المصدر: Frazier, A E, Compton, A G, Kishita, Y, Hock, D H, Welch, A M E, Amarasekera, S S C, Rius, R, Formosa, L E, Imai-Okazaki, A, Francis, D, Wang, M, Lake, N J, Tregoning, S, Jabbari, J S, Lucattini, A, Nitta, K R, Ohtake, A, Murayama, K, Amor, D J, McGillivray, G, Wong, F Y, van der Knaap, M S, Vermeulen, R J, Wiltshire, E J, Fletcher, J M, Lewis, B, Baynam, G, Ellaway, C, Balasubramaniam, S, Bhattacharya, K, Freckmann, M L, Arbuckle, S, Rodriguez, M, Taft, R J, Sadedin, S, Cowley, M J, Minoche, A E, Calvo, S E, Mootha, V K, Ryan, M T, Okazaki, Y, Stroud, D A, Simons, C, Christodoulou, J & Thorburn, D R 2021, ' Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 Locus ', Med, vol. 2, no. 1, pp. 49-73.e10 . https://doi.org/10.1016/j.medj.2020.06.004Test
Med, 2(1), 49-73.e10. Cell Pressمصطلحات موضوعية: quantitative proteomics, COMPUTATIONAL PLATFORM, Translation to Patients, Mitochondrial disease, Pontocerebellar hypoplasia, segmental duplication, Locus (genetics), Biology, HIGH-THROUGHPUT, Genome, GENOMIC DISORDERS, SDG 3 - Good Health and Well-being, medicine, de novo duplication, genomics, Copy-number variation, COPY-NUMBER VARIANTS, ATAD3, Exome sequencing, Segmental duplication, Genetics, ARCHITECTURE, MEMBRANE-PROTEIN, MUTATIONS, CHOLESTEROL, General Medicine, DNA, medicine.disease, COMPLEX I DEFICIENCY, mitochondrial disease, perinatal death, Human genome, cardiomyopathy
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b50f10f2b85c45465523a075c89ba3ffTest
https://research.vumc.nl/en/publications/1832e9e2-32f9-4c73-848a-8df349686c9dTest -
5
المؤلفون: Enrico Grosso, A. Maffe, Malte Spielmann, L Sorasio, G. Zacchetti, E. Di Gregorio, Elisa Savin, Roberto Keller, A. Guala, Irene Bagnasco, M. Cirillo Silengo, Marina Gandione, Cecilia Mancini, S De Rubeis, Marta Ferrero, Elisa Giorgio, Giorgia Mandrile, Alessandro Calcia, F. Talarico, Giorgia Gai, Fabio Sirchia, Paolo Provero, V. G. Naretto, Simona Cavalieri, Alessandro Brussino, Daniela Giachino, S. Ungari, Evelise Riberi, Gabriella Restagno, Alfredo Brusco, Patrizia Pappi, Barbara Pasini, Elga Fabia Belligni, Andrea Zonta, M. De Marchi, Mara Giordano, Joseph D. Buxbaum, Diana Carli, Elisa Biamino, Alessandra Pelle, Giovanni Battista Ferrero, Ugo Ala, C. Arduino
المصدر: Clinical Genetics. 92:415-422
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Candidate gene, Adolescent, DNA Copy Number Variations, Developmental Disabilities, CNV, autism spectrum disorder, Biology, Chromosomal Position Effects, Young Adult, 03 medical and health sciences, Intellectual disability, Genetics, medicine, Humans, Copy-number variation, Child, genomic disorders, Gene, Genetic Association Studies, Genetics (clinical), Sequence Deletion, Chromosome Aberrations, Comparative Genomic Hybridization, array-CGH, developmental delay, intellectual disability, Infant, Genomics, medicine.disease, Phenotype, Pedigree, DNA-Binding Proteins, 030104 developmental biology, Autism spectrum disorder, Child, Preschool, Cohort, Female, Rare disease
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39a801c78f604f6776fe5565bea502f4Test
https://doi.org/10.1111/cge.13009Test -
6
المؤلفون: Adele Mitrotti, David Fasel, Nan Wu, Joanna A.E. van Wijk, Monica Bodria, Jeremiah Martino, Alejandra Perez, Marcin Tkaczyk, Loreto Gesualdo, Katarzyna Zachwieja, Marcin Zaniew, Giorgio Piaggio, Miguel Verbitsky, Brynn Levy, Virginia E. Papaioannou, Zoran Gucev, Marijan Saraga, Piotr Adamczyk, David E. Barton, Velibor Tasic, Craig S. Wong, Maria Szczepańska, Rik Westland, Valeria Manca, Jun Zhang, Alba Carrea, Fangming Lin, Robert Pawluch, Pasquale Casale, Landino Allegri, Krzysztof Kiryluk, Matthew G. Sampson, Daniele Cusi, Charlly Kao, Max Werth, Shumyle Alam, Young Ji Na, Claudia Izzi, Isabella Pisani, Mark G Dobson, Grażyna Krzemień, Giovanni Conti, Dorota Drozdz, John M Darlow, Shirlee Shril, Patricia L. Weng, Tze Y Lim, Friedhelm Hildebrandt, Monika Miklaszewska, Giuseppe Masnata, Domenico Santoro, Ana Cristina Simões-e-Silva, Byum Hee Kil, Cathy Mendelsohn, Hakon Hakonarson, Przemysław Sikora, Anna Latos-Bielenska, Simone Sanna-Cherchi, Josep M. Campistol, Anna Krakowska, Cécile Jeanpierre, Pasquale Zamboli, Débora Marques de Miranda, Hope White, Francesco Scolari, Dina Ahram, Ekaterina Batourina, Anna Materna-Kiryluk, Valentina P Capone, Eduardo A. Oliveira, Maddalena Marasa, Tomasz Jarmoliński, Jonathan Barasch, Asaf Vivante, Prem Puri, Ali G. Gharavi, Feng Zhang, Priya Krithivasan, Małgorzata Mizerska-Wasiak, Erin L. Heinzen, Maria K Borszewska-Kornacka, Lida Rodas, Bradley A. Warady, Maddalena Gigante, Agnieszka Szmigielska, Qingxue Liu, Susan L. Furth, Vladimir J Lozanovski, Gian Marco Ghiggeri, Daria Tomczyk
المساهمون: Amsterdam Reproduction & Development (AR&D), ACS - Microcirculation, Paediatric Nephrology
المصدر: Nature genetics
51 (2019): 117–+. doi:10.1038/s41588-018-0281-y
info:cnr-pdr/source/autori:Verbitsky, Miguel; Westland, Rik; Perez, Alejandra; Kiryluk, Krzysztof; Liu, Qingxue; Krithivasan, Priya; Mitrotti, Adele; Fasel, David A.; Batourina, Ekaterina; Sampson, Matthew G.; Bodria, Monica; Werth, Max; Kao, Charlly; Martino, Jeremiah; Capone, Valentina P.; Vivante, Asaf; Shril, Shirlee; Kil, Byum Hee; Marasa, Maddalena; Zhang, Jun Y.; Na, Young-Ji; Lim, Tze Y.; Ahram, Dina; Weng, Patricia L.; Heinzen, Erin L.; Carrea, Alba; Piaggio, Giorgio; Gesualdo, Loreto; Manca, Valeria; Masnata, Giuseppe; Gigante, Maddalena; Cusi, Daniele; Izzi, Claudia; Scolari, Francesco; van Wijk, Joanna A. E.; Saraga, Marijan; Santoro, Domenico; Conti, Giovanni; Zamboli, Pasquale; White, Hope; Drozdz, Dorota; Zachwieja, Katarzyna; Miklaszewska, Monika; Tkaczyk, Marcin; Tomczyk, Daria; Krakowska, Anna; Sikora, Przemyslaw; Jarmolinski, Tomasz; Borszewska-Kornacka, Maria K.; Pawluch, Robert; Szczepanska, Maria; Adamczyk, Piotr; Mizerska-Wasiak, Malgorzata; Krzemien, Grazyna; Szmigielska, Agnieszka; Zaniew, Marcin; Dobson, Mark G.; Darlow, John M.; Puri, Prem; Barton, David E.; Furth, Susan L.; Warady, Bradley A.; Gucev, Zoran; Lozanovski, Vladimir J.; Tasic, Velibor; Pisani, Isabella; Allegri, Landino; Rodas, Lida M.; Campistol, Josep M.; Jeanpierre, Cecile; Alam, Shumyle; Casale, Pasquale; Wong, Craig S.; Lin, Fangming; Miranda, Debora M.; Oliveira, Eduardo A.; Simoes-e-Silva, Ana Cristina; Barasch, Jonathan M.; Levy, Brynn; Wu, Nan; Hildebrandt, Friedhelm; Ghiggeri, Gian Marco; Latos-Bielenska, Anna; Materna-Kiryluk, Anna; Zhang, Feng; Hakonarson, Hakon; Papaioannou, Virginia E.; Mendelsohn, Cathy L.; Gharavi, Ali G.; Sanna-Cherchi, Simone/titolo:The copy number variation landscape of congenital anomalies of the kidney and urinary tract/doi:10.1038%2Fs41588-018-0281-y/rivista:Nature genetics (Print)/anno:2019/pagina_da:117/pagina_a:+/intervallo_pagine:117–+/volume:51
Volume 51
Issue 1
Nature Genetics, 51(1), 117-127. Nature Publishing Group
Nature genetics, 51(1), 117-127. Nature Publishing Groupمصطلحات موضوعية: Male, BIOMEDICINE AND HEALTHCARE. Clinical Medical Sciences, endocrine system diseases, Kidney, 0302 clinical medicine, Copy-number variation, deletion, Urinary Tract, Obstructive uropathy, Genetics, 0303 health sciences, BIOMEDICINA I ZDRAVSTVO. Kliničke medicinske znanosti, Genomics, digeorge-syndrome, Microdeletion syndrome, 3. Good health, medicine.anatomical_structure, Female, vitamin-a, branching morphogenesis, Chromosome Deletion, candidate genes, renal replacement therapy, congenital, hereditary, and neonatal diseases and abnormalities, DNA Copy Number Variations, Urinary system, Locus (genetics), Biology, Vesicoureteral reflux, Article, 03 medical and health sciences, mental disorders, medicine, Humans, Genetic Predisposition to Disease, genomic disorders, 030304 developmental biology, Vesico-Ureteral Reflux, disease, Extramural, rare variants, medicine.disease, mutations, Urogenital Abnormalities, 030217 neurology & neurosurgery, Genome-Wide Association Study
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a48219869787b36614865b1a53822277Test
https://ruj.uj.edu.pl/xmlui/handle/item/108818Test -
7
المؤلفون: Lies H. Hoefsloot, P. Martin van Hagen, L. Ingeborgh van den Born, Carel B. Hoyng, Kornelia Neveling, Frans P.M. Cremers, Mieke Kipping-Geertsema, Anna M. Siemiatkowska, Anneke I. den Hollander, Rob W.J. Collin, Monique Stoffels, Anna Simon, Arjen Henkes
المساهمون: Immunology, Ophthalmology
المصدر: Ophthalmology, 120, 2697-705
Ophthalmology, 120(12), 2697-2705. Elsevier Inc.
Ophthalmology, 120, 12, pp. 2697-705مصطلحات موضوعية: Adult, Male, Proband, Oncology, medicine.medical_specialty, Pathology, Genetics and epigenetic pathways of disease [NCMLS 6], DNA Mutational Analysis, Visual Acuity, Mevalonic Acid, Compound heterozygosity, Genomic disorders and inherited multi-system disorders [IGMD 3], Evaluation of complex medical interventions Genomic disorders and inherited multi-system disorders [NCEBP 2], Internal medicine, Retinitis pigmentosa, Electroretinography, medicine, Humans, Exome, Fluorescein Angiography, Exome sequencing, Mevalonate kinase deficiency, biology, business.industry, Genetic heterogeneity, Mevalonate kinase, Middle Aged, medicine.disease, Pedigree, Pathogenesis and modulation of inflammation [N4i 1], Phosphotransferases (Alcohol Group Acceptor), Ophthalmology, Mutation, biology.protein, Female, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], business, Retinitis Pigmentosa, Tomography, Optical Coherence
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b23a34004ac4b791b1b83b121055c17Test
https://doi.org/10.1016/j.ophtha.2013.07.052Test -
8
المؤلفون: Hannes Helgason, Asbjorg Geirsdottir, Unnur Thorsteinsdottir, Haraldur Sigurdsson, Yaojun Song, Yaou Duan, G. Bragi Walters, Johannes P. H. van de Ven, Hongrong Luo, Tina Ristau, Frederieke E. Schoenmaker-Koller, Kang Zhang, Carel B. Hoyng, Ling Zhao, Paul S. Bernstein, Lambertus A. Kiemeney, Shirrina Patel, Camiel J. F. Boon, Sascha Fauser, Hreinn Stefansson, Olafur T. Magnusson, Gudleif Helgadottir, Gisli Masson, Kari Stefansson, Patrick Sulem, Ingileif Jonsdottir, Michelle Pei, Henry Ferreyra, Einar Stefánsson, Fridbert Jonasson, Thorunn Rafnar, Sandra Liakopoulos, Daniel F. Gudbjartsson, Anneke I. den Hollander, Gudmar Thorleifsson, Maheswara R Duvvari, Augustine Kong
المصدر: Nature Genetics, 45, 1371-4
Nature Genetics, 45, 11, pp. 1371-4
Nature Genetics, 45(11), 1371-U153مصطلحات موضوعية: Risk, Nonsynonymous substitution, medicine.medical_specialty, Genotype, Iceland, Aetiology, screening and detection [ONCOL 5], Complement factor I, Biology, Bioinformatics, Polymorphism, Single Nucleotide, Genomic disorders and inherited multi-system disorders [IGMD 3], Macular Degeneration, Gene Frequency, Evaluation of complex medical interventions Genomic disorders and inherited multi-system disorders [NCEBP 2], Molecular genetics, Genetic variation, Genetics, medicine, Humans, Genetic Predisposition to Disease, Allele, Complement Activation, Molecular epidemiology Aetiology, screening and detection [NCEBP 1], Sequence (medicine), Base Sequence, Genetic Variation, Complement C3, Sequence Analysis, DNA, Macular degeneration, medicine.disease, Amino Acid Substitution, Complement Factor H, Complement C3b, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], Genome-Wide Association Study
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a384c0fcdb1e74be68da544ed189cccTest
https://doi.org/10.1038/ng.2740Test -
9
المؤلفون: Ad R. M. M. Hermus, K. Freriks, Hanneke Mieloo, Maaike A.F. Traas, Henri J L M Timmers, Dominique Smeets, Romana T. Netea-Maier, Janiëlle A E M van Alfen-van der Velden, Barto J. Otten, Catharina C. M. Beerendonk, Guillaume van de Zande, Lies H. Hoefsloot
المصدر: European Journal of Medical Genetics, 56, 9, pp. 497-501
European Journal of Medical Genetics, 56, 497-501مصطلحات موضوعية: Adult, Monosomy, Pathology, medicine.medical_specialty, Buccal swab, Turner Syndrome, Gonadoblastoma, Biology, Real-Time Polymerase Chain Reaction, Y chromosome, Genomic disorders and inherited multi-system disorders [IGMD 3], Turner syndrome, Tissue mosaicism, Genetics, medicine, Humans, Hormonal regulation Translational research [IGMD 6], Genetic Predisposition to Disease, Lymphocytes, In Situ Hybridization, Fluorescence, Genetics (clinical), X chromosome, Ovarian Neoplasms, Chromosomes, Human, X, Chromosomes, Human, Y, Mosaicism, Hormonal regulation [IGMD 6], Mouth Mucosa, Karyotype, General Medicine, medicine.disease, Human Reproduction [NCEBP 12], Female, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6]
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::116177bcd37fd78bae5eb92f1fd873efTest
https://doi.org/10.1016/j.ejmg.2013.07.008Test -
10
المؤلفون: Lawrence T. Reiter, Kevin A. Hope, Nora Urraca, T. Grant Belgard, Juanma Ramirez, Dave Bridges, Quynh T. Tran, Colleen Valdez, A. Kaitlyn Victor, Sarita Goorha, Silvia Sánchez, Rawaha Memon, Martin Donaldson
المصدر: Molecular Autism, Vol 9, Iss 1, Pp 1-16 (2018)
Molecular Autismمصطلحات موضوعية: 0301 basic medicine, Ubiquitin-Protein Ligases, Autism, Trisomy, Stem cells, Biology, Dup15q, medicine.disease_cause, lcsh:RC346-429, mRNAseq, Transcriptome, 03 medical and health sciences, 0302 clinical medicine, Neural Stem Cells, Developmental Neuroscience, Neurogenetic syndrome, Gene duplication, Gene expression, Basic Helix-Loop-Helix Transcription Factors, medicine, UBE3A, Guanine Nucleotide Exchange Factors, Humans, Molecular Biology, Gene, Cells, Cultured, Dental Pulp, lcsh:Neurology. Diseases of the nervous system, Genetics, Chromosomes, Human, Pair 15, Genomic disorders, Mutation, Forkhead Box Protein O1, Research, Nuclear Receptor Subfamily 1, Group F, Member 1, Phenotype, Psychiatry and Mental health, 030104 developmental biology, Angelman Syndrome, Chromosome Deletion, 030217 neurology & neurosurgery, Developmental Biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d9b8734232b423ad8edf14676c7b3dccTest
https://doi.org/10.1186/s13229-018-0191-yTest