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المؤلفون: José Garcia-Pelaez, Rita Barbosa-Matos, Silvana Lobo, Alexandre Dias, Luzia Garrido, Sérgio Castedo, Sónia Sousa, Hugo Pinheiro, Liliana Sousa, Rita Monteiro, Joaquin J Maqueda, Susana Fernandes, Fátima Carneiro, Nádia Pinto, Carolina Lemos, Carla Pinto, Manuel R Teixeira, Stefan Aretz, Svetlana Bajalica-Lagercrantz, Judith Balmaña, Ana Blatnik, Patrick R Benusiglio, Maud Blanluet, Vincent Bours, Hilde Brems, Joan Brunet, Daniele Calistri, Gabriel Capellá, Sergio Carrera, Chrystelle Colas, Karin Dahan, Robin de Putter, Camille Desseignés, Elena Domínguez-Garrido, Conceição Egas, D Gareth Evans, Damien Feret, Eleanor Fewings, Rebecca C Fitzgerald, Florence Coulet, María Garcia-Barcina, Maurizio Genuardi, Lisa Golmard, Karl Hackmann, Helen Hanson, Elke Holinski-Feder, Robert Hüneburg, Mateja Krajc, Kristina Lagerstedt-Robinson, Conxi Lázaro, Marjolijn J L Ligtenberg, Cristina Martínez-Bouzas, Sonia Merino, Geneviève Michils, Srdjan Novaković, Ana Patiño-García, Guglielmina Nadia Ranzani, Evelin Schröck, Inês Silva, Catarina Silveira, José L Soto, Isabel Spier, Verena Steinke-Lange, Gianluca Tedaldi, María-Isabel Tejada, Emma R Woodward, Marc Tischkowitz, Nicoline Hoogerbrugge, Carla Oliveira
المساهمون: Institut Català de la Salut, [Garcia-Pelaez J] Instituto de Investigação e Inovação em Saúde (i3S), University of Porto, Porto, Portugal. Faculty of Medicine, University of Porto, Porto, Portugal. Instituto de Patologia e Imunologia Molecular da Universidade do Porto, Porto, Portugal. Porto Comprehensive Cancer Center Raquel Seruca, Porto, Portugal. [Barbosa-Matos R, Lobo S] Instituto de Investigação e Inovação em Saúde (i3S), University of Porto, Porto, Portugal. Institute of Biomedical Sciences Abel Salazar, University of Porto, Porto, Portugal. Instituto de Patologia e Imunologia Molecular da Universidade do Porto, Porto, Portugal. Porto Comprehensive Cancer Center Raquel Seruca, Porto, Portugal. [Dias A] Instituto de Investigação e Inovação em Saúde (i3S), University of Porto, Porto, Portugal. Instituto de Patologia e Imunologia Molecular da Universidade do Porto, Porto, Portugal. Porto Comprehensive Cancer Center Raquel Seruca, Porto, Portugal. [Garrido L] Centro Hospitalar Universitário São João, Porto, Portugal. [Castedo S] Instituto de Investigação e Inovação em Saúde (i3S), University of Porto, Porto, Portugal. Faculty of Medicine, University of Porto, Porto, Portugal. Instituto de Patologia e Imunologia Molecular da Universidade do Porto, Porto, Portugal. Centro Hospitalar Universitário São João, Porto, Portugal. Porto Comprehensive Cancer Center Raquel Seruca, Porto, Portugal. European Reference Network on Genetic Tumour Risk Syndromes (ERN GENTURIS), Porto, Portugal. [Balmaña J] Vall d'Hebron Hospital Universitari, Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain. ERN GENTURIS, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus
المصدر: Garcia-Pelaez, J, Barbosa-Matos, R, Lobo, S, Dias, A, Garrido, L, Castedo, S, Sousa, S, Pinheiro, H, Sousa, L, Monteiro, R, Maqueda, J J, Fernandes, S, Carneiro, F, Pinto, N, Lemos, C, Pinto, C, Teixeira, M R, Aretz, S, Bajalica-Lagercrantz, S, Balmaña, J, Blatnik, A, Benusiglio, P R, Blanluet, M, Bours, V, Brems, H, Brunet, J, Calistri, D, Capellá, G, Carrera, S, Colas, C, Dahan, K, de Putter, R, Desseignés, C, Domínguez-Garrido, E, Egas, C, Evans, D G, Feret, D, Fewings, E, Fitzgerald, R C, Coulet, F, Garcia-Barcina, M, Genuardi, M, Golmard, L, Hackmann, K, Hanson, H, Holinski-Feder, E, Hüneburg, R, Krajc, M, Lagerstedt-Robinson, K, Lázaro, C, Ligtenberg, M J L, Martínez-Bouzas, C, Merino, S, Michils, G, Novaković, S, Patiño-García, A, Ranzani, G N, Schröck, E, Silva, I, Silveira, C, Soto, J L, Spier, I, Steinke-Lange, V, Tedaldi, G, Tejada, M-I, Woodward, E R, Tischkowitz, M, Hoogerbrugge, N & Oliveira, C 2023, ' Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes : a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes ', The Lancet. Oncology, vol. 24, no. 1, pp. 91-106 . https://doi.org/10.1016/S1470-2045(22)00643-X
Lancet Oncology, 24, 1, pp. 91-106
Scientia
Lancet Oncology, 24, 91-106مصطلحات موضوعية: neoplasias::neoplasias por localización::neoplasias del sistema digestivo::neoplasias gastrointestinales::neoplasias gástricas [ENFERMEDADES], Genotype, Neoplasms::Neoplasms by Site::Breast Neoplasms [DISEASES], enfermedades de la piel y tejido conjuntivo::enfermedades de la piel::enfermedades de la mama [ENFERMEDADES], Genetic Phenomena::Genotype::Genetic Predisposition to Disease [PHENOMENA AND PROCESSES], Mutation, Missense, Breast Neoplasms, All institutes and research themes of the Radboud University Medical Center, Germ Cells/pathology, Antigens, CD, Stomach Neoplasms, Tumours of the digestive tract Radboud Institute for Molecular Life Sciences [Radboudumc 14], Humans, Genetic Predisposition to Disease, Genotip, Càncer, Germ-Line Mutation, fenómenos genéticos::genotipo::predisposición genética a la enfermedad [FENÓMENOS Y PROCESOS], Cancer, Retrospective Studies, Breast Neoplasms/epidemiology, Cadherins/genetics, Antigens, CD/genetics, Stomach Neoplasms/epidemiology, Cadherins, Pedigree, Fenotip, Carcinoma, Lobular, Germ Cells, Phenotype, Oncology, Aparell digestiu - Càncer - Aspectes genètics, Mama - Càncer - Aspectes genètics, Neoplasms::Neoplasms by Site::Digestive System Neoplasms::Gastrointestinal Neoplasms::Stomach Neoplasms [DISEASES], Female
وصف الملف: Print-Electronic; application/pdf
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المصدر: Arquivos Brasileiros de Oftalmologia. January 2017 80(1)
مصطلحات موضوعية: Hypotrichosis, Macular degeneration, Cadherins/genetics, Humans, Case reports
وصف الملف: text/html
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المؤلفون: Sara Gandini, Joana Pereira, Giovanni Corso, Antonia Girardi, Giacomo Montagna, Paolo Veronesi, Simone Pietro De Angelis, Joana Figueiredo, Bernardo Bonanni, Raquel Seruca, Elena Guerini Rocco, Gabriella Pravettoni, Patrícia Carneiro, Virgilio Sacchini, Federica Corso
المساهمون: Instituto de Investigação e Inovação em Saúde
المصدر: Journal of Cellular and Molecular Medicine
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_treatment, Reviews, Breast Neoplasms, Review, Targeted therapy, CDH1, breast cancer metastases, 03 medical and health sciences, breast cancer, 0302 clinical medicine, Breast cancer, Cadherins / genetics, breast cancer survival, Biomarkers, Tumor, Humans, Medicine, Molecular Targeted Therapy, Gene, biology, E‐cadherin, business.industry, Cadherin, breast cancer prognosis, Translation (biology), Cell Biology, Cadherins, Prognosis, medicine.disease, Epithelial polarization, Gene Expression Regulation, Neoplastic, Biomarkers, Tumor / genetics, Breast Neoplasms / genetics, 030104 developmental biology, 030220 oncology & carcinogenesis, Cadherins / metabolism, Cancer research, biology.protein, Molecular Medicine, Female, business, Function (biology)
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المؤلفون: Robert E. Lewis, Robert A. Svoboda, Kurt W. Fisher, Chaitra Rao, Hans Clevers, Chittibabu Guda, Adrian R. Black, Siddesh Southekal, Tomohiro Mizutani, Danielle E. Frodyma, Keith R. Johnson
المساهمون: Hubrecht Institute for Developmental Biology and Stem Cell Research
المصدر: eLife, 10. eLife Sciences Publications
eLife, Vol 10 (2021)
eLifeمصطلحات موضوعية: 0301 basic medicine, MAPK/ERK pathway, Colorectal cancer, human organoids, Protein Kinases/genetics, Metastasis, 0302 clinical medicine, Neoplasm Proteins/genetics, Cell Movement, Translational regulation, Biology (General), Cancer Biology, Tumor, biology, Chemistry, General Neuroscience, Cell migration, Translation (biology), General Medicine, Cadherins, Phenotype, Neoplasm Proteins, Cell biology, Gene Expression Regulation, Neoplastic, 030220 oncology & carcinogenesis, Medicine, colon cancer cells, Signal transduction, Colorectal Neoplasms, Research Article, Human, Epithelial-Mesenchymal Transition, Slug, QH301-705.5, MAP Kinase Signaling System, Science, Repressor, General Biochemistry, Genetics and Molecular Biology, Cell Line, 03 medical and health sciences, Cell Line, Tumor, medicine, Humans, Neoplasm Invasiveness, Epithelial–mesenchymal transition, Neoplastic, General Immunology and Microbiology, Cadherins/genetics, Cancer, Cell Biology, medicine.disease, biology.organism_classification, 030104 developmental biology, Gene Expression Regulation, Cancer cell, Protein Kinases, Transcription Factors
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المؤلفون: Bernd Wollnik, Siham Chafai Elalaoui, Kapil Bharti, Connie R. Bezzina, Najim Lahrouchi, Ruchi Sharma, Amina Berraho, Najlae Adadi, Abdelaziz Sefiani, Janine Altmueller, Stanislas Lyonnet, Mones Abu-Asab, Alessandro Plebani, Vardiella Meiner, Felix Onojafe, Sanita Bharti, Yassine Lamsyah, Friedhelm Hildebrandt, Helen McNeill, Ronen Schneider, Alexandra Henrion-Caude, Hamza Elorch, Fatima-Zahra Laarabi, Imane Chebbar, Ilham Ratbi, Elisabeth M. Lodder, Alex V. Postma, Brian P. Brooks, Aman George, Shahida Moosa, Henriette Kyrieleis, Vassilios Lougaris
المساهمون: ACS - Heart failure & arrhythmias, Graduate School, Cardiology, Human Genetics, ACS - Pulmonary hypertension & thrombosis, Medical Biology
المصدر: Nature Communications, Vol 10, Iss 1, Pp 1-11 (2019)
Nature communications, 10(1). Nature Publishing Group
Nature Communicationsمصطلحات موضوعية: 0301 basic medicine, Male, Pathology, Blepharoptosis/genetics, Organogenesis, DNA Mutational Analysis, General Physics and Astronomy, 02 engineering and technology, Retinal Pigment Epithelium, Eye, Inbred C57BL, Whole Exome Sequencing, Mice, Ptosis, Missense mutation, Blepharoptosis, Microphthalmos, Colobomatous microphthalmia, Kidney Diseases/genetics, lcsh:Science, Child, Frameshift Mutation, Zebrafish, Cells, Cultured, Mice, Knockout, Coloboma, Multidisciplinary, Cultured, biology, Syndactyly/genetics, Adolescent, Adult, Animals, Cadherins, Child, Preschool, Embryo, Mammalian, Facial Bones, Female, Humans, Intercellular Junctions, Kidney Diseases, Mice, Inbred C57BL, Primary Cell Culture, Syndactyly, Syndrome, Young Adult, Zebrafish Proteins, Coloboma/genetics, 021001 nanoscience & nanotechnology, Microphthalmos/genetics, 3. Good health, Embryo, medicine.symptom, Technology Platforms, nephropathy, mutations, FAT1, 0210 nano-technology, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Cells, Knockout, Science, Article, General Biochemistry, Genetics and Molecular Biology, Frameshift mutation, 03 medical and health sciences, Zebrafish Proteins/genetics, Exome Sequencing, medicine, Facial Bones/abnormalities, Preschool, Organogenesis/genetics, business.industry, Cadherins/genetics, Mammalian, General Chemistry, medicine.disease, biology.organism_classification, eye diseases, Intercellular Junctions/metabolism, Eye/embryology, 030104 developmental biology, Retinal Pigment Epithelium/cytology, Eye development, lcsh:Q, sense organs, business
وصف الملف: application/pdf
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المؤلفون: Kathrin Ks Grassme, Ralf H. Adams, Benoit Vanhollebeke, Heinz-Georg Belting, Stefan Guenther, Rodrigo Diéguez-Hurtado, Markus Affolter, Cora Wiesner, Kathleen Hübner, Pauline Cabochette, Marvin Hubert, Wiebke Herzog, Yuki Wakayama
المصدر: Nature Communications, Vol 9, Iss 1, Pp 1-17 (2018)
Nature Communications
Nature communications, 9 (1مصطلحات موضوعية: 0301 basic medicine, Embryo, Nonmammalian, Antigens, CD -- genetics -- metabolism, Angiogenesis, Regulator, General Physics and Astronomy, Animals, Genetically Modified, Neovascularization, 0302 clinical medicine, Genes, Reporter, Zebrafish Proteins -- genetics -- metabolism, lcsh:Science, Wnt Signaling Pathway, Zebrafish, beta Catenin, S1PR1, Cadherins -- genetics -- metabolism, Regulation of gene expression, Multidisciplinary, Chemistry, Wnt signaling pathway, Brain, Gene Expression Regulation, Developmental, Sciences bio-médicales et agricoles, Cadherins, Cell biology, Receptors, Lysosphingolipid, medicine.anatomical_structure, Blood-Brain Barrier, Cerebrovascular Circulation, cardiovascular system, beta Catenin -- genetics -- metabolism, medicine.symptom, Science, Central nervous system, Brain -- blood supply -- growth & development -- metabolism, Luminescent Proteins -- genetics -- metabolism, Neovascularization, Physiologic, Blood-Brain Barrier -- growth & development -- metabolism, Article, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, Antigens, CD, Receptors, Lysosphingolipid -- genetics -- metabolism, medicine, Animals, Cerebrovascular Circulation -- genetics, Neovascularization, Physiologic -- genetics, Cell Adhesion Molecules -- genetics -- metabolism, General Chemistry, Zebrafish Proteins, Zebrafish -- genetics -- growth & development -- metabolism, Capillaries, Luminescent Proteins, 030104 developmental biology, lcsh:Q, VE-cadherin, Cell Adhesion Molecules, 030217 neurology & neurosurgery, Capillaries -- growth & development -- metabolism
وصف الملف: 1 full-text file(s): application/pdf
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المؤلفون: Hyunglok Chung, Aamir Nazir, Federico Santoni, Alkistis Manousopoulou, Hugo J. Bellen, Khitab Gul, Graeme C.M. Black, Maqsood Ali Ansari, Stylianos E. Antonarakis, Muhammad Ansar, Rachel L. Taylor, Constantin J. Pournaras, Samina Imtiaz, Emilie Falconnet, Jawad Ahmed, Inayat Shah, Sondas Saeed, Periklis Makrythanasis, Michel Guipponi, Muhammad T. Sarwar, Emmanuelle Ranza
المصدر: Taylor, R L & Black, G 2018, ' Bi-allelic Loss-of-Function Variants in DNMBP Cause Infantile Cataracts ', American Journal of Human Genetics, vol. 103, no. 4, pp. 568-578 . https://doi.org/10.1016/j.ajhg.2018.09.004
مصطلحات موضوعية: Exome/genetics, Male, 0301 basic medicine, Tight Junctions/pathology, Loss of Heterozygosity, 030105 genetics & heredity, loss-of-function, Epithelial Cells/pathology, Genetics(clinical), Exome, Child, Genetics (clinical), Exome sequencing, Genetics, Tight junction, Genetic Predisposition to Disease/genetics, Drosophila/genetics, Homozygote, photoreceptors, Middle Aged, Cataract/genetics, Cadherins, Phenotype, Pedigree, infantile cataract, Genetic Variation/genetics, cataract, ERG, Drosophila, Female, Adult, Still Life, sif, Septate junctions, bristles, Cytoskeletal Proteins/genetics, Biology, Article, Cataract, Tight Junctions, Frameshift mutation, 03 medical and health sciences, Cataracts, cornea, medicine, Animals, Humans, Genetic Predisposition to Disease, Allele, Alleles, Loss function, Loss of Heterozygosity/genetics, Cadherins/genetics, Genetic Variation, Epithelial Cells, medicine.disease, Cytoskeletal Proteins, 030104 developmental biology, eye development, DNMBP, Lod Score, pigment cells, exome sequencine
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64dd3f45d6e6b70caf69d2d3b3c7a9c6
https://doi.org/10.1016/j.ajhg.2018.09.004 -
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المؤلفون: Sheng Wang, Jeffrey D. Mandell, Yogesh Kumar, Nawei Sun, Montana T. Morris, Juan Arbelaez, Cara Nasello, Shan Dong, Clif Duhn, Xin Zhao, Zhiyu Yang, Shanmukha S. Padmanabhuni, Dongmei Yu, Robert A. King, Andrea Dietrich, Najah Khalifa, Niklas Dahl, Alden Y. Huang, Benjamin M. Neale, Giovanni Coppola, Carol A. Mathews, Jeremiah M. Scharf, Thomas V. Fernandez, Joseph D. Buxbaum, Silvia De Rubeis, Dorothy E. Grice, Jinchuan Xing, Gary A. Heiman, Jay A. Tischfield, Peristera Paschou, A. Jeremy Willsey, Matthew W. State, Mohamed Abdulkadir, Benjamin Bodmer, Yana Bromberg, Lawrence W. Brown, Keun-Ah Cheon, Barbara J. Coffey, Li Deng, Lonneke Elzerman, Carolin Fremer, Blanca Garcia-Delgar, Donald L. Gilbert, Julie Hagstrøm, Tammy Hedderly, Isobel Heyman, Pieter J. Hoekstra, Hyun Ju Hong, Chaim Huyser, Eun-Joo Kim, Young Key Kim, Young-Shin Kim, Yun-Joo Koh, Sodahm Kook, Samuel Kuperman, Bennett L Leventhal, Andrea G. Ludolph, Marcos Madruga-Garrido, Athanasios Maras, Pablo Mir, Astrid Morer, Montana T Morris, Kirsten Müller-Vahl, Alexander Münchau, Tara L. Murphy, Kerstin J. Plessen, Hannah Poisner, Veit Roessner, Stephan J. Sanders, Eun-Young Shin, Dong-Ho Song, Jungeun Song, Joshua K. Thackray, Jennifer Tübing, Frank Visscher, Sina Wanderer, A Jeremy Willsey, Martin Woods, Yeting Zhang, Samuel H. Zinner, Christos Androutsos, Csaba Barta, Luca Farkas, Jakub Fichna, Marianthi Georgitsi, Piotr Janik, Iordanis Karagiannidis, Anastasia Koumoula, Peter Nagy, Joanna Puchala, Renata Rizzo, Natalia Szejko, Urszula Szymanska, Zsanett Tarnok, Vaia Tsironi, Tomasz Wolanczyk, Cezary Zekanowski, Cathy L. Barr, James R. Batterson, Cheston Berlin, Ruth D. Bruun, Cathy L. Budman, Danielle C. Cath, Sylvain Chouinard, Nancy J. Cox, Sabrina Darrow, Lea K. Davis, Yves Dion, Nelson B. Freimer, Marco A. Grados, Matthew E. Hirschtritt, Cornelia Illmann, Roger Kurlan, James F. Leckman, Gholson J. Lyon, Irene A. Malaty, William M. MacMahon, Michael S. Okun, Lisa Osiecki, David L. Pauls, Danielle Posthuma, Vasily Ramensky, Mary M. Robertson, Guy A. Rouleau, Paul Sandor, Harvey S. Singer, Jan Smit, Jae-Hoon Sul
المساهمون: Tourette International Collaborative Genetics Study (TIC Genetics), Tourette Syndrome Genetics Southern and Eastern Europe Initiative (TSGENESEE), Tourette Association of America International Consortium for Genetics (TAAICG), Abdulkadir, M., Arbelaez, J., Bodmer, B., Bromberg, Y., Brown, L.W., Cheon, K.A., Coffey, B.J., Deng, L., Dietrich, A., Dong, S., Duhn, C., Elzerman, L., Fernandez, T.V., Fremer, C., Garcia-Delgar, B., Gilbert, D.L., Grice, D.E., Hagstrøm, J., Hedderly, T., Heiman, G.A., Heyman, I., Hoekstra, P.J., Hong, H.J., Huyser, C., Kim, E.J., Kim, Y.K., Kim, Y.S., King, R.A., Koh, Y.J., Kook, S., Kuperman, S., Leventhal, B.L., Ludolph, A.G., Madruga-Garrido, M., Mandell, J.D., Maras, A., Mir, P., Morer, A., Morris, M.T., Müller-Vahl, K., Münchau, A., Murphy, T.L., Nasello, C., Plessen, K.J., Poisner, H., Roessner, V., Sanders, S.J., Shin, E.Y., Song, D.H., Song, J., State, M.W., Sun, N., Thackray, J.K., Tischfield, J.A., Tübing, J., Visscher, F., Wanderer, S., Wang, S., Willsey, A.J., Woods, M., Xing, J., Zhang, Y., Zhao, X., Zinner, S.H., Androutsos, C., Barta, C., Farkas, L., Fichna, J., Georgitsi, M., Janik, P., Karagiannidis, I., Koumoula, A., Nagy, P., Paschou, P., Puchala, J., Rizzo, R., Szejko, N., Szymanska, U., Tarnok, Z., Tsironi, V., Wolanczyk, T., Zekanowski, C., Barr, C.L., Batterson, J.R., Berlin, C., Bruun, R.D., Budman, C.L., Cath, D.C., Chouinard, S., Coppola, G., Cox, N.J., Darrow, S., Davis, L.K., Dion, Y., Freimer, N.B., Grados, M.A., Hirschtritt, M.E., Huang, A.Y., Illmann, C., Kurlan, R., Leckman, J.F., Lyon, G.J., Malaty, I.A., Mathews, C.A., MacMahon, W.M., Neale, B.M., Okun, M.S., Osiecki, L., Pauls, D.L., Posthuma, D., Ramensky, V., Robertson, M.M., Rouleau, G.A., Sandor, P., Scharf, J.M., Singer, H.S., Smit, J., Sul, J.H., Yu, D.
المصدر: Cell Reports, Vol 24, Iss 13, Pp 3441-3454.e12 (2018)
Cell reports, vol. 24, no. 13, pp. 3441-3454.e12
Cell reports
Cell reports, 24(13), 3441-3454.e12. CELL PRESSمصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, DNA Copy Number Variations, Receptors, Cell Surface, Biology, Genome, Article, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, 0302 clinical medicine, RARE, SCHIZOPHRENIA, medicine, Humans, Copy-number variation, Child, NEURODEVELOPMENTAL DISORDERS, Gene, lcsh:QH301-705.5, Exome sequencing, 030304 developmental biology, Medicinsk genetik, Sequence (medicine), Genetics, 0303 health sciences, SEVERE INTELLECTUAL DISABILITY, Cadherin, MUTATIONS, AUTISM SPECTRUM DISORDER, Cell Polarity, OBSESSIVE-COMPULSIVE DISORDER, Cadherins, medicine.disease, Pedigree, PREVALENCE, CONGENITAL HEART-DISEASE, GENOME, 030104 developmental biology, lcsh:Biology (General), Schizophrenia, Medical genetics, Female, Cadherins/genetics, Receptors, Cell Surface/genetics, Tourette Syndrome/genetics, Tourette Syndrome/pathology, TIC Genetics, Tourette disorder, cell polarity, copy number variants, de novo variants, gene discovery, microarray genotyping, multiplex, simplex, whole exome sequencing, Medical Genetics, 030217 neurology & neurosurgery, Tourette Syndrome
وصف الملف: application/pdf
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المؤلفون: Alessandra Vigilante, Mamunur Rashid, Inês Sequeira, Inês M Tomás, Marc J Williams, Trevor A. Graham, David J. Adams, Fiona M. Watt
المصدر: Nature Communications
Nature Communications, Vol 11, Iss 1, Pp 1-13 (2020)
Sequeira, I, Rashid, M, Tomás, I M, Williams, M J, Graham, T A, Adams, D J, Vigilante, A & Watt, F M 2020, ' Genomic landscape and clonal architecture of mouse oral squamous cell carcinomas dictate tumour ecology ', Nature Communications, vol. 11, no. 1, 5671 . https://doi.org/10.1038/s41467-020-19401-9مصطلحات موضوعية: 0301 basic medicine, Exome/genetics, Carcinogenesis, General Physics and Astronomy, medicine.disease_cause, Mice, 0302 clinical medicine, Cancer genomics, Neoplasm, Exome, Receptor, Notch1, lcsh:Science, Cancer, Mouth neoplasm, Mutation, Multidisciplinary, Oral cancer, Genomics, Cadherins, 4-Nitroquinoline-1-oxide, Gene Expression Regulation, Neoplastic, 030220 oncology & carcinogenesis, Carcinoma, Squamous Cell, Disease Progression, Mouth Neoplasms/genetics, Mouth Neoplasms, FAT1, Carcinogenesis/chemically induced, Science, Biology, General Biochemistry, Genetics and Molecular Biology, Article, 03 medical and health sciences, medicine, Carcinoma, Carcinoma, Squamous Cell/genetics, Animals, Neoplasm Invasiveness, Receptor, Notch1/genetics, Genetic heterogeneity, Cadherins/genetics, General Chemistry, medicine.disease, Genes, p53, Mice, Inbred C57BL, Genes, p53/genetics, stomatognathic diseases, Disease Models, Animal, 030104 developmental biology, 4-Nitroquinoline-1-oxide/adverse effects, Cancer research, lcsh:Q, Genes, Neoplasm
وصف الملف: application/pdf
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المؤلفون: Catarina Campos, Cheila Brito, Cecília Moura, João B. Vicente, Filipe Pinto, Margarida Pataco, Joaninha Costa Rosa, S. Santos, Branca M. Cavaco, Rafael Luís, P. Machado, S. Fragoso, Marta Pojo, Susana Esteves
المساهمون: Instituto de Investigação e Inovação em Saúde, Instituto de Tecnologia Química e Biológica António Xavier (ITQB), NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM)
المصدر: Genes, Vol 11, Iss 403, p 403 (2020)
Genes
Volume 11
Issue 4مصطلحات موضوعية: 0301 basic medicine, Male, Guanine Nucleotide Exchange Factors / genetics, hereditary melanoma, 0302 clinical medicine, CDH23, Melanoma / pathology, Cadherins / genetics, Germ-Line Mutation / genetics, Guanine Nucleotide Exchange Factors, Genetics(clinical), Exome, Hereditary Melanoma, Melanoma, Genetics (clinical), Exome sequencing, High-Throughput Nucleotide Sequencing, Middle Aged, Cadherins, High-Throughput Nucleotide Sequencing / methods, Gene Expression Regulation, Neoplastic, Gene Expression Regulation, Neoplastic / genetics, 030220 oncology & carcinogenesis, germline mutations, WES, Female, Cutaneous melanoma, Adult, lcsh:QH426-470, In silico, Cadherin Related Proteins, Biology, Article, DNA sequencing, cutaneous melanoma, 03 medical and health sciences, Germline mutation, SDG 3 - Good Health and Well-being, Transcription Factors / genetics, Exome Sequencing, Genetics, medicine, Humans, Genetic Predisposition to Disease, Germline mutations, neoplasms, Germ-Line Mutation, Aged, medicine.disease, Melanoma / genetics, lcsh:Genetics, 030104 developmental biology, Exome / genetics, Cancer research, Hereditary melanoma, Whole Exome Sequencing / methods, Transcription Factors
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0bb34954b949887bb1105971041f80bc
https://hdl.handle.net/10216/142513
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