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1Academic Journal
المؤلفون: Rose M. Doss, Martin W. Breuss
المصدر: PLoS Biology, Vol 22, Iss 8 (2024)
مصطلحات موضوعية: Biology (General), QH301-705.5
وصف الملف: electronic resource
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2Academic Journal
المؤلفون: Martin W Breuss, Xiaoxu Yang, Valentina Stanley, Jennifer McEvoy-Venneri, Xin Xu, Arlene J Morales, Joseph G Gleeson
المصدر: eLife, Vol 11 (2022)
مصطلحات موضوعية: sperm, mosaicism, de novo mutation, blastocyst, IVF, Medicine, Science, Biology (General), QH301-705.5
وصف الملف: electronic resource
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3Academic Journal
المؤلفون: Camila A. B. Garcia, Simone C. S. Carvalho, Xiaoxu Yang, Laurel L. Ball, Renee D. George, Kiely N. James, Valentina Stanley, Martin W. Breuss, Ursula Thomé, Marcelo V. Santos, Fabiano P. Saggioro, Luciano Neder Serafini, Wilson A. Silva Jr, Joseph G. Gleeson, Hélio R. Machado
المصدر: Epilepsia Open, Vol 5, Iss 1, Pp 97-106 (2020)
مصطلحات موضوعية: epilepsy, hemimegalencephaly, mTOR, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2470-9239
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4
المؤلفون: Xiaoxu Yang, Martin W Breuss, Valentina Stanley, Jennifer McEvoy-Venneri, Xin Xu, Arlene J Morales, Joseph G Gleeson
المصدر: eLife. 11
مصطلحات موضوعية: Male, medicine, sperm, General Biochemistry, Genetics and Molecular Biology, Cohort Studies, Clinical Research, Semen, genomics, Genetics, Humans, human, Child, Pediatric, General Immunology and Microbiology, blastocyst, Mosaicism, Contraception/Reproduction, General Neuroscience, Human Genome, General Medicine, Spermatozoa, de novo mutation, Good Health and Well Being, IVF, Biochemistry and Cell Biology, Software
وصف الملف: application/pdf
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5
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المؤلفون: Kiely N. James, Fabiano Pinto Saggioro, Camila Araújo Bernardino Garcia, Renee D. George, Xiaoxu Yang, Martin W. Breuss, Ursula Thomé, Laurel L. Ball, Wilson A. Silva, Luciano Neder Serafini, Marcelo Volpon Santos, Simone da Costa e Silva Carvalho, Hélio Rubens Machado, Joseph G. Gleeson, Valentina Stanley
المصدر: Epilepsia Open, Vol 5, Iss 1, Pp 97-106 (2020)
Epilepsia Open
Epilepsia open, vol 5, iss 1
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USPمصطلحات موضوعية: Hemimegalencephaly, Somatic cell, 1.1 Normal biological development and functioning, mTORC1, Biology, lcsh:RC346-429, Underpinning research, Genetics, 2.1 Biological and endogenous factors, Aetiology, Gene, Exome sequencing, PI3K/AKT/mTOR pathway, lcsh:Neurology. Diseases of the nervous system, Pediatric, hemimegalencephaly, Amplicon, DEPDC5, Brain Disorders, Neurology, Neurological, Full‐length Original Research, mTOR, epilepsy, SEQUENCIAMENTO GENÉTICO, Neurology (clinical), Biotechnology
وصف الملف: application/pdf
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8
المؤلفون: Xin Xu, Valentina Stanley, Jonathan Sebat, Xiaoxu Yang, Martin W. Breuss, Joseph G. Gleeson, Yan Ding, Beibei Cao, Jennifer McEvoy-Venneri, Renee D. George, An Nguyen, Lucitia Van Der Kraan, Sara A. Wirth, Guoliang Chai, Danny Antaki, Laurel L. Ball, Kiely N. James, Shareef Nahas
المصدر: Cell, vol 184, iss 18
Cellمصطلحات موضوعية: Male, Aging, Time Factors, Adolescent, Somatic cell, Offspring, 1.1 Normal biological development and functioning, autism spectrum disorder, Biology, Cellular level, Models, Biological, sperm, Medical and Health Sciences, General Biochemistry, Genetics and Molecular Biology, Article, Cohort Studies, Young Adult, transmission risk, Risk Factors, Models, Underpinning research, Genetics, Humans, 2.1 Biological and endogenous factors, Aetiology, Alleles, congenital disorders, Genetic diversity, Serial sampling, somatic, Mosaicism, Embryogenesis, Human Genome, mutational signature, Biological Sciences, Biological, Stem Cell Research, Sperm, Spermatozoa, de novo mutation, Clone Cells, Ejaculated sperm, Mutation, embryogenesis, Growth and Development, Generic health relevance, clonal mosaicism, Developmental Biology
وصف الملف: application/pdf
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9
المؤلفون: Xiaoxu Yang, Martin W. Breuss, Joseph G. Gleeson
المصدر: Trends Genet
Trends in genetics : TIG, vol 37, iss 10مصطلحات موضوعية: sperm mosaicism, Male, endocrine system, advanced paternal age, Offspring, media_common.quotation_subject, Severe disease, Human genetic variation, Disease, Biology, Medical and Health Sciences, Article, 03 medical and health sciences, 0302 clinical medicine, Meiosis, Genetics, primordial germ cells, Humans, 030304 developmental biology, media_common, spermatogonial stem cells, Pediatric, 0303 health sciences, urogenital system, Mosaicism, Contraception/Reproduction, Embryogenesis, Human Genome, Genomics, Biological Sciences, Sperm, human variation, Spermatozoa, Spermatogonia, Mutation, 030217 neurology & neurosurgery, Diversity (politics), Biotechnology, Developmental Biology
وصف الملف: application/pdf
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10
المؤلفون: Colin A. Johnson, Valentina Stanley, Chen Li, Alexander Neumann, Mohamed S. Abdel-Hamid, Eamonn Sheridan, Arnout P. Kalverda, Elizabeth M. A. Valleley, Ghayda Mirzaa, Patrick M. Gaffney, Heidi L. Rehm, Paula Anzenberg, Danny Antaki, Iain W. Manfield, Alice Webb, Brian H.Y. Chung, Sherif F. Abdel‐Ghafar, Grace E. VanNoy, Nhi Lang, Guoliang Chai, Lynn Pais, David A. Parry, David T. Bonthron, Clare V. Logan, Mandy H.Y. Tsang, Sangmoon Lee, Joseph G. Gleeson, Alysia Kern Lovgren, Maha S. Zaki, Klaas J. Wierenga, Trevor Marshall, Xiaoxu Yang, Martin W. Breuss, Patricia A. Jennings, Mahmoud Y. Issa, Jullianne Diaz, Eyby Leon
المصدر: Neuron, vol 109, iss 2
مصطلحات موضوعية: 0301 basic medicine, Male, Microcephaly, Secondary, Cell Cycle Proteins, brain development, Neurodegenerative, medicine.disease_cause, Inbred C57BL, Nervous System, Protein Structure, Secondary, Transgenic, Cohort Studies, Mice, Gene Knockout Techniques, 0302 clinical medicine, 2.1 Biological and endogenous factors, Psychology, microcephaly, Aetiology, Cerebellar hypoplasia, Genetics, Mutation, General Neuroscience, neurodegeneration, Peptidylprolyl Isomerase, Pedigree, PRP17, RNA splicing, PCHM, cyclophilin, Neurological, Heredodegenerative Disorders, Nervous System, Female, Cognitive Sciences, RNA Splicing Factors, Heredodegenerative Disorders, Spliceosome, Protein Structure, Isomerase activity, proline isomerase, Pontocerebellar hypoplasia, Mice, Transgenic, Biology, 03 medical and health sciences, alternative splicing, Rare Diseases, Cerebellar Diseases, medicine, Animals, Humans, Amino Acid Sequence, Neurology & Neurosurgery, pontocerebellar hypoplasia, Alternative splicing, Human Genome, recessive disease, Neurosciences, medicine.disease, NMR, Protein Structure, Tertiary, Brain Disorders, Mice, Inbred C57BL, 030104 developmental biology, HEK293 Cells, Orphan Drug, Spliceosomes, spliceosome, 030217 neurology & neurosurgery, Tertiary, PPIL1
وصف الملف: application/pdf
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11
المؤلفون: Martin W, Breuss, Xiaoxu, Yang, Johannes C M, Schlachetzki, Danny, Antaki, Addison J, Lana, Xin, Xu, Changuk, Chung, Guoliang, Chai, Valentina, Stanley, Qiong, Song, Traci F, Newmeyer, An, Nguyen, Sydney, O'Brien, Marten A, Hoeksema, Beibei, Cao, Alexi, Nott, Jennifer, McEvoy-Venneri, Martina P, Pasillas, Scott T, Barton, Brett R, Copeland, Shareef, Nahas, Lucitia, Van Der Kraan, Yan, Ding, Christopher K, Glass, Soraya, Scuder
المصدر: Nature. 604(7907)
مصطلحات موضوعية: Mosaicism, Humans, Cell Lineage, Neocortex, Microglia, Cells, Cultured, Clone Cells
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12
المؤلفون: Danny Antaki, Xin Xu, Joseph G. Gleeson, Martin W. Breuss, Alexej Abyzov, Xiaoxu Yang, Laurel L. Ball, Yifan Wang, Chen Li, Changuk Chung, Taejeoing Bae, Renee D. George, Jonathan Sebat
مصطلحات موضوعية: chemistry.chemical_classification, chemistry, Computer science, medicine, Cancer, Nucleotide, Sparse approximation, Computational biology, medicine.disease, Genome, Classifier (UML), Convolutional neural network, Embryonic stem cell
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13
المؤلفون: Xiaoxu, Yang, Xin, Xu, Martin W, Breuss, Danny, Antaki, Laurel L, Ball, Changuk, Chung, Jiawei, Shen, Chen, Li, Renee D, George, Yifan, Wang, Taejeong, Bae, Yuhe, Cheng, Alexej, Abyzov, Liping, Wei, Ludmil B, Alexandrov, Jonathan L, Sebat, Soraya, Scuderi
المصدر: Nature biotechnology.
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14
المؤلفون: Guoliang Chai, Kiely N. James, Yan Ding, Valentina Stanley, Shareef Nahas, Renee D. George, Martin W. Breuss, Beibei Cao, Laurel L. Ball, Xin Xu, Jennifer McEvoy-Venneri, Danny Antaki, Xiaoxu Yang, An Nguyen, Joseph G. Gleeson, Sara A. Wirth, Jonathan Sebat, Lucitia Van Der Kraan
مصطلحات موضوعية: Whole genome sequencing, Genetics, Haematopoiesis, Age groups, Transmission (medicine), Offspring, Disease, Biology, Sperm, Likely pathogenic
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15
المؤلفون: Elizabeth R. Waters, Allen Mamerto, Martin W. Breuss, Tanya Renner
المصدر: Genome Biology and Evolution
مصطلحات موضوعية: AcademicSubjects/SCI01140, Subfamily, Lineage (evolution), Population, Gene redundancy, Gene Expression, Biology, Genetic analysis, Evolution, Molecular, 03 medical and health sciences, 0302 clinical medicine, Gene Duplication, Genetics, mammalian gene family evolution, Animals, Humans, Selection, Genetic, education, Gene, Ecology, Evolution, Behavior and Systematics, Phylogeny, 030304 developmental biology, Mammals, 0303 health sciences, education.field_of_study, Phylogenetic tree, AcademicSubjects/SCI01130, Genetic Variation, ABC membrane transporters, Evolutionary biology, Multigene Family, ABCA, gene birth and death, ATP-Binding Cassette Transporters, 030217 neurology & neurosurgery, Function (biology), Research Article
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المؤلفون: Qiong Song, Valentina Stanley, Lucitia Van Der Kraan, Johannes C. M. Schlachetzki, Yan Ding, Beibei Cao, Alexander Nott, Addison A Lana, Xin Xu, Xiaoxu Yang, Martin W. Breuss, An Nguyen, Martina P. Pasillas, Traci Fang Newmeyer, Christopher K. Glass, Jennifer McEvoy-Venneri, Danny Antaki, Shareef Nahas, Guoliang Chai, Joe G Gleeson
مصطلحات موضوعية: Cell type, Lineage (genetic), medicine.anatomical_structure, Neocortex, Somatic cell, Cerebral cortex, Evolutionary biology, medicine, Embryo, Human brain, Biology, Genome
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المؤلفون: Ratna Tripathy, Andrew Edwards, Marco Repic, Anna Přistoupilová, Ivo Gut, Elliott H. Sherr, David J. Adams, Ines Leca, Tomas Honzik, Lukas Landler, Viktor Stránecký, Thomas Gstrein, Martin W. Breuss, Anna K. Traunbauer, Stanislav Kmoch, Marta Gut, Thomas M. Keane, Gavril Rosoklija, Karl Mechtler, David A. Keays, Sergi Beltran, Gerhard Dürnberger, Tobias Hochstoeger, Sandra Pilat-Carotta, Andi H. Hansen, Johannes Zuber, Jonathan Flint
المصدر: Nature Neuroscience. 21:207-217
مصطلحات موضوعية: Male, 0301 basic medicine, Alkylating Agents, Vacuolar Proton-Translocating ATPases, Transgene, Mutant, Mice, Transgenic, Biology, Hippocampal formation, Article, Mice, 03 medical and health sciences, Downregulation and upregulation, Cell Movement, Autophagy, medicine, Animals, Humans, Neurons, Regulation of gene expression, Cerebrum, General Neuroscience, Brain, Gene Expression Regulation, Developmental, Embryo, Mammalian, Mice, Inbred C57BL, Disease Models, Animal, 030104 developmental biology, medicine.anatomical_structure, Animals, Newborn, Neurodevelopmental Disorders, Ethylnitrosourea, Mutation, Female, Atrophy, Pyramidal cell, Neuroscience, Signal Transduction
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18
المؤلفون: Javiera Uribe Fenner, Andrea B. Moffitt, William M. Brandler, Kiely N. James, Danny Antaki, Melissa Gymrek, Sara A. Wirth, An Nguyen, Jing Gu, Camila Araújo Bernardino Garcia, Renee D. George, Renatta Knox, Xiaoxu Yang, Martin W. Breuss, Joseph G. Gleeson, Jennifer McEvoy-Venneri, Orrin Devinsky, Zihua Wang, Evan Sticca, Amaia Hervás, Madhusudan Gujral, Jonathan Sebat, Maria Cárcel Pérez, Martha Cristina Cancino Botello, Maria Arranz, Damir Musaev, Morgan L. Kleiber, Oanh Hong, Ileena Mitra, Laurel L. Ball
المصدر: Nature medicine, vol 26, iss 1
Nature medicineمصطلحات موضوعية: 0301 basic medicine, Male, Offspring, Genetic counseling, Intellectual and Developmental Disabilities (IDD), Autism, Immunology, Germline mosaicism, Biology, Polymorphism, Single Nucleotide, Medical and Health Sciences, General Biochemistry, Genetics and Molecular Biology, Article, 03 medical and health sciences, 0302 clinical medicine, Polymorphism (computer science), Recurrence, Risk Factors, medicine, Genetics, Humans, 2.1 Biological and endogenous factors, Genetic Predisposition to Disease, Autistic Disorder, Polymorphism, Aetiology, Genetic testing, Pediatric, medicine.diagnostic_test, Mosaicism, Contraception/Reproduction, Human Genome, Chromosome, General Medicine, DNA, Single Nucleotide, medicine.disease, Serious Mental Illness, Sperm, Spermatozoa, Pedigree, Brain Disorders, 030104 developmental biology, Mental Health, 030220 oncology & carcinogenesis, Mutation, Female
وصف الملف: application/pdf
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المؤلفون: Xiaoxu Yang, Martin W. Breuss, Samia A. Temtamy, Joshua D. Green, Matloob Azam, Bryan J. Traynor, Laila Bastaki, Danica Ross, Lu Wang, Laila Selim, Hanan I Elbastawisy, Amal Alhashem, Shereen G. Ghosh, Valentina Stanley, Joseph G. Gleeson, Maha S. Zaki
المصدر: J Med Genet
Journal of medical genetics, vol 57, iss 4مصطلحات موضوعية: 0301 basic medicine, Male, Microcephaly, Protein Folding, Endoplasmic Reticulum, Medical and Health Sciences, Exon, Consanguinity, 0302 clinical medicine, Thioredoxins, 2.1 Biological and endogenous factors, Aetiology, Protein disulfide-isomerase, Child, Genetics (clinical), Exome sequencing, Pediatric, Genetics & Heredity, Genetics, Homozygote, Exons, Biological Sciences, protein disulfide isomerase, Child, Preschool, Neurological, Female, ER stress, Intellectual and Developmental Disabilities (IDD), Protein Disulfide-Isomerases, Biology, Article, 03 medical and health sciences, Rare Diseases, Clinical Research, Exome Sequencing, medicine, Humans, Genetic Predisposition to Disease, Amino Acid Sequence, Allele, Preschool, TMX2, Human Genome, Neurosciences, Membrane Proteins, thioredoxin, Protein superfamily, medicine.disease, Brain Disorders, 030104 developmental biology, Mutation, Unfolded protein response, Congenital Structural Anomalies, microlissencephaly, Trinucleotide repeat expansion, 030217 neurology & neurosurgery
وصف الملف: application/pdf
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المؤلفون: Sara A. Wirth, Qiong Song, Muhammad Zia-ur-Rehman, Tipu Sultan, An Nguyen, Kiely N. James, Joseph G. Gleeson, Paula Anzenberg, Thai B. Nguyen, Guoliang Chai, Shaila Ali, Renee D. George, Valentina Stanley, Anide Johansen, Martin W. Breuss, Maha S. Zaki, Damir Musaev
المصدر: American journal of human genetics. 103(2)
مصطلحات موضوعية: 0301 basic medicine, Male, Adolescent, Biology, Corpus callosum, Endoplasmic Reticulum, Corpus Callosum, 03 medical and health sciences, Epilepsy, Mice, 0302 clinical medicine, Atrophy, Intellectual Disability, Report, Genetics, medicine, Animals, Humans, Child, Genetics (clinical), Homeodomain Proteins, Endoplasmic reticulum, Stem Cells, Infant, Membrane Proteins, Cell Differentiation, medicine.disease, Phenotype, Neural stem cell, Human genetics, Hypotonia, Cell biology, 030104 developmental biology, Mutation, Muscle Hypotonia, Female, medicine.symptom, Psychomotor Disorders, 030217 neurology & neurosurgery
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