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11
المؤلفون: Naomi Meeks, Diana M. Toledo, Heather Mason-Suares, M Cristina Pacheco, Matthew S. Lebo, David Sharpe, Katherine A Lafferty, Jean Gekas, Thomas E. Mullen
المصدر: European Journal of Human Genetics. 25:509-511
مصطلحات موضوعية: 0301 basic medicine, Neuroblastoma RAS viral oncogene homolog, medicine.medical_specialty, Short Report, Protein Tyrosine Phosphatase, Non-Receptor Type 11, 030105 genetics & heredity, Biology, Germline, GTP Phosphohydrolases, 03 medical and health sciences, Germline mutation, Pregnancy, Genetics, medicine, Humans, Germ-Line Mutation, Genetics (clinical), Juvenile myelomonocytic leukemia, Noonan Syndrome, Infant, Newborn, Membrane Proteins, medicine.disease, PTPN11, Leukemia, 030104 developmental biology, Leukemia, Myelomonocytic, Juvenile, Medical genetics, Noonan syndrome, Female
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95e01a87d106f3669439f97bc86686b8Test
https://doi.org/10.1038/ejhg.2016.202Test -
12
المؤلفون: Monkol Lek, Alma Kuechler, Maria J. Guillen Sacoto, Marwan Shinawi, Thorsten Krieger, Caroline Nava, Eva Tolosa, Marine Lebrun, Immo Prinz, Ineke de Kruijff, Thomas E. Mullen, Julien Buratti, Sathish Venkataramanappa, Antonio M. Lerario, Raymond J. Louie, Maja Hempel, Anne-Marie Laberge, Tim M. Strom, Boris Keren, Paulien A Terhal, Casie A. Genetti, Julie Gauthier, Tobias B. Haack, Alexandra Afenjar, Ruth Simon, Robin Kobbe, Caroline Schluth-Bolard, Ivana Lessel, Nuria C. Bramswig, Koen L.I. van Gassen, Christian Kubisch, Moneef Shoukier, Mariana F A Funari, Leonie Kuhlmann, Stefan Britsch, Christina Gehbauer, Dagmar Wieczorek, Pentao Liu, Bénédicte Demeer, Alexander Augusto Lima Jorge, Sara S. Cathey, Boris Lenhard, Anja Barešić, Pankaj B. Agrawal, Fadi F. Hamdan, Jonas Denecke, Philippe M. Campeau, Hermann-Josef Lüdecke, Davor Lessel
المصدر: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Brain, 141, 2299. Oxford University Press
Brain 141, 2299-2311 (2018)مصطلحات موضوعية: 0301 basic medicine, Male, T-Lymphocytes, Medizin, Haploinsufficiency, medicine.disease_cause, Mice, 0302 clinical medicine, Missense mutation, Lymphocytes, Child, Mutation, neurodevelopment, Innate lymphoid cell, High-Throughput Nucleotide Sequencing, BCL11B, developmental delay, medicine.anatomical_structure, intellectual disability, Child, Preschool, Female, Heterozygote, Adolescent, T cell, Nonsense mutation, BCL11B, developmental delay, intellectual disability, type 2 innate lymphoid cells, neurodevelopment, Biology, type 2 innate lymphoid cells, Frameshift mutation, 03 medical and health sciences, Immune system, Bcl11b, Developmental Delay, Intellectual Disability, Neurodevelopment, Type 2 Innate Lymphoid Cells, medicine, Animals, Humans, Germ-Line Mutation, Tumor Suppressor Proteins, MUTAÇÃO GENÉTICA, Infant, Original Articles, Repressor Proteins, 030104 developmental biology, Gene Expression Regulation, Neurodevelopmental Disorders, Immunology, Neurology (clinical), 030217 neurology & neurosurgery, Transcription Factors
وصف الملف: image/pdf; application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cbf20506aa303fe57ec59f8f11d49ce1Test
https://www.ncbi.nlm.nih.gov/pubmed/29985992Test -
13
المؤلفون: Shirin Jamal-Omidi, L. Phillips, Anna Kostera-Pruszczyk, Nanna Witting, Miren Zulaica Ijurco, Maja von der Hagen, Ana Töpf, Kristl G. Claeys, Jaume Colomer, Monkol Lek, Shahriar Nafissi, L. Xu, Daniel G. MacArthur, Elise Valkanas, Jonathan Baets, Anna Potulska-Chromik, Volker Straub, Anna Łusakowska, Peter Van den Bergh, Sonja Strang-Karlsson, Thomas E. Mullen, John Vissing, Marta Bertoli, Juan Bautista Espinal Valencia, Carina Wallgren-Pettersson, Willem De Ridder, Hacer Durmus, Tracey Willis, Katherine Johnson, Andreas Hahn, Roberto Fernández-Torrón, Nicolas Deconinck
المساهمون: UCL - (SLuc) Service de neurologie, UCL - SSS/IONS/NEUR - Clinical Neuroscience, Medicum, Department of Medical and Clinical Genetics, University of Helsinki, Clinicum, Children's Hospital, HUS Children and Adolescents
المصدر: Skeletal Muscle, Vol. 8, no. 1, p. 23 [1-12] (2018)
Skeletal muscle 8(1), 23 (2018). doi:10.1186/s13395-018-0170-1
Skeletal Muscle
Johnson, K, Bertoli, M, Phillips, L, Töpf, A, Van den Bergh, P, Vissing, J, Witting, N, Nafissi, S, Jamal-Omidi, S, Łusakowska, A, Kostera-Pruszczyk, A, Potulska-Chromik, A, Deconinck, N, Wallgren-Pettersson, C, Strang-Karlsson, S, Colomer, J, Claeys, K G, De Ridder, W, Baets, J, von der Hagen, M, Fernández-Torrón, R, Zulaica Ijurco, M, Espinal Valencia, J B, Hahn, A, Durmus, H, Willis, T, Xu, L, Valkanas, E, Mullen, T E, Lek, M, MacArthur, D G & Straub, V 2018, ' Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness ', Skeletal Muscle, vol. 8, 23 . https://doi.org/10.1186/s13395-018-0170-1Test
SKELET MUSCLE
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Skeletal Muscle, 8 (1
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Skeletal Muscle, Vol 8, Iss 1, Pp 1-12 (2018)
Skeletal muscleمصطلحات موضوعية: 0301 basic medicine, Male, lcsh:Diseases of the musculoskeletal system, Glycosylation, Whole Exome Sequencing/methods, Muscle Proteins, Hygiène et médecine sportives, Bioinformatics, WALKER-WARBURG-SYNDROME, 0302 clinical medicine, Orthopedics and Sports Medicine, Limb-girdle muscle weakness, Child, Dystroglycans, Exome sequencing, Muscle Proteins/genetics, Aged, 80 and over, Homozygote, Middle Aged, Dystroglycanopathies, 3. Good health, Whole-exome sequencing, medicine.anatomical_structure, Phenotype, Dystroglycans/metabolism, Child, Preschool, Orthopédie, Congenital muscular dystrophy, SKELETAL-MUSCLE, Female, medicine.symptom, GLYCOPROTEIN COMPLEX, Life Sciences & Biomedicine, ALPHA-DYSTROGLYCAN, Adult, Heterozygote, Proximal muscle weakness, Adolescent, EYE-BRAIN DISEASE, 03 medical and health sciences, Young Adult, Glycoprotein complex, Exome Sequencing, medicine, Humans, ABNORMAL GLYCOSYLATION, Genetic Predisposition to Disease, Walker–Warburg syndrome, Biology, Molecular Biology, POMT2 MUTATIONS, Aged, Science & Technology, Genetic heterogeneity, business.industry, Research, Muscular Dystrophies, Limb-Girdle/genetics, Muscle weakness, Skeletal muscle, Genetic Variation, Cell Biology, medicine.disease, Cancérologie, 030104 developmental biology, Muscular Dystrophies, Limb-Girdle, Mutation, CONGENITAL MUSCULAR-DYSTROPHY, 1182 Biochemistry, cell and molecular biology, Biologie cellulaire, Human medicine, DEFECTIVE GLYCOSYLATION, 3111 Biomedicine, lcsh:RC925-935, business, 030217 neurology & neurosurgery, MENTAL-RETARDATION
وصف الملف: application/pdf; Electronic; 1 full-text file(s): application/pdf; pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed866fead030563b4d9ea59130e00061Test
https://hdl.handle.net/2078.1/220057Test -
14Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in Childhood
المؤلفون: Avraham Shaag, Berivan Baskin, Zöe Powis, Amber Begtrup, Katelyn Payne, Claudia M. Nicolae, Orly Elpeleg, Chitra Prasad, Asuri N. Prasad, Boris Keren, George Lucian Moldovan, Laurie S. Sadler, Caroline Nava, Cyril Mignot, Simon Edvardson, Thomas E. Mullen, Pankaj B. Agrawal
المصدر: Paediatrics Publications
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Adolescent, Nucleolus, 18S, Biology, Ribosome, Polymorphism, Single Nucleotide, Pediatrics, Promoter Regions, 03 medical and health sciences, Young Adult, Genetic, Report, Genetics, RNA polymerase I, RNA, Ribosomal, 18S, Humans, Polymorphism, Child, Promoter Regions, Genetic, Transcription factor, Genetics (clinical), Ribosomal, Brain Diseases, Brain, Neurodegenerative Diseases, Single Nucleotide, Ribosomal RNA, Molecular biology, Chromatin, External transcribed spacer, DNA-Binding Proteins, 030104 developmental biology, Transcription preinitiation complex, RNA, Female, Atrophy, Pol1 Transcription Initiation Complex Proteins, Cell Nucleolus
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e7d9d0f19838b206aaec60f469059b9Test
https://ir.lib.uwo.ca/paedpub/88Test -
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المؤلفون: Frank H. Lau, Pamela Sklar, Stephen J. Haggarty, Samuel A. Rose, Roy H. Perlis, Steven D. Sheridan, Steven A. McCarroll, James Nemesh, Philip A. Wolf, Colm O'Dushlaine, A Hussain, Ralda Nehme, A Nigam, E H Rueckert, Douglas Barker, Daniel M. Fass, M Fleishman, Joey Hsu, Jon M. Madison, Fen Zhou, K van der Ven, Kimberly Chambert, Thomas E. Mullen, Tim Ahfeldt, Laurence Daheron
المصدر: Molecular psychiatry
مصطلحات موضوعية: Male, Bipolar Disorder, Cellular differentiation, Gene Expression, GSK3, Membrane Potentials, Glycogen Synthase Kinase 3, 0302 clinical medicine, GSK-3, calcium channels, Gene expression, Induced pluripotent stem cell, Wnt Signaling Pathway, Cells, Cultured, Neurons, 0303 health sciences, iPSC, neurodevelopment, Wnt signaling pathway, ion channels, Cell Differentiation, 3. Good health, Psychiatry and Mental health, lithium, Schizophrenia, Cytokines, Intercellular Signaling Peptides and Proteins, Female, Stem cell, Receptors, CXCR4, DNA Copy Number Variations, neuroplasticity, Induced Pluripotent Stem Cells, Biology, Polymorphism, Single Nucleotide, Article, 03 medical and health sciences, Cellular and Molecular Neuroscience, mental disorders, medicine, Humans, RNA, Messenger, Bipolar disorder, Molecular Biology, 030304 developmental biology, Family Health, medicine.disease, stem cell, Cancer research, Neuroscience, 030217 neurology & neurosurgery, corticogenesis, Transcription Factors
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f2e70a47203546670792b54e2189d726Test
https://doi.org/10.1038/mp.2015.7Test -
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المؤلفون: Rosemary Barone, Jionghong Min, Lei O'malley, Yi Cao, Xin Feng, Stephen Bi, Elisa Collin, Katherine B. Sims, Winnie Xin, John F. Staropoli, Thomas E. Mullen, Jeffrey A. Brown
المصدر: Amyotrophic Lateral Sclerosis. 13:217-222
مصطلحات موضوعية: Proband, SOD1, Biology, TARDBP, Exon, Superoxide Dismutase-1, medicine, Humans, Genetic Predisposition to Disease, Genetic Testing, Amyotrophic lateral sclerosis, Gene, Disease gene, Genetics, Clinical Laboratory Techniques, Superoxide Dismutase, Amyotrophic Lateral Sclerosis, Ribonuclease, Pancreatic, General Medicine, medicine.disease, Phenotype, United States, DNA-Binding Proteins, Neurology, Mutation, Cancer research, RNA-Binding Protein FUS, Neurology (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28d76efb211553a9cb107bb3f0ab1361Test
https://doi.org/10.3109/17482968.2011.643899Test -
17
المؤلفون: Monkol Lek, M. Ensini, Marta Bertoli, L. Phillips, Thomas E. Mullen, L. Xu, Daniel G. MacArthur, A. Blain, V. Straub, Ana Töpf, Katherine Johnson, Elise Valkanas
المصدر: Neuromuscular Disorders. 28:S39
مصطلحات موضوعية: Limb girdle weakness, Neurology, business.industry, Pediatrics, Perinatology and Child Health, Medicine, Neurology (clinical), business, Bioinformatics, Genetics (clinical), Exome sequencing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::b95a97e7543a85af713278bd5caf6368Test
https://doi.org/10.1016/s0960-8966Test(18)30407-3 -
18
المؤلفون: Elise Valkanas, A. Martinez Arroyo, A. López de Munain, Katherine Johnson, A. Blain, L. Phillips, Monkol Lek, Marta Bertoli, R. Fernández-Torrón, Daniel G. MacArthur, L. Xu, M. Ensini, Miren Zulaica, Ana Töpf, V. Straub, Thomas E. Mullen
المصدر: Neuromuscular Disorders. 27:S229
مصطلحات موضوعية: Neurology, Pediatrics, Perinatology and Child Health, Identification (biology), Neurology (clinical), Computational biology, Biology, Exome, Genetics (clinical), Exome sequencing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::406d50b1921de16a21d38f77886f8ce1Test
https://doi.org/10.1016/j.nmd.2017.06.483Test -
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المؤلفون: Kathleen R. Nevis, Thomas E. Mullen, Charles J. O'Kelly, Rebecca J. Gast, Salvatore Frasca
المصدر: Journal of Shellfish Research. 24:719-731
مصطلحات موضوعية: Genetics, animal structures, Molecular epidemiology, biology, fungi, Neoparamoeba, Paramoebidae, Nucleic acid sequence, Aquatic Science, biology.organism_classification, Molecular biology, parasitic diseases, Molecular phylogenetics, Consensus sequence, Paramoeba, Nested polymerase chain reaction
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::ae662d30b253c4bfdc3e34cb3ae40773Test
https://doi.org/10.2983/0730-8000Test(2005)24[719:nsrrgc]2.0.co;2 -
20
المصدر: Molecular and Cellular Biology. 25:3109-3116
مصطلحات موضوعية: DNA Replication, Timeless, Circadian clock, Down-Regulation, Cell Cycle Proteins, Chromosome Structure and Dynamics, Ataxia Telangiectasia Mutated Proteins, Protein Serine-Threonine Kinases, CRYPTOCHROME 2, Biology, Cell Line, Humans, Hydroxyurea, DNA damage checkpoints, Circadian rhythm, RNA, Small Interfering, Molecular Biology, Adaptor Proteins, Signal Transducing, Flavoproteins, Cell Cycle, Intracellular Signaling Peptides and Proteins, Cell Biology, Cell cycle, G2-M DNA damage checkpoint, Chromatin Assembly and Disassembly, Phosphoproteins, Circadian Rhythm, Cell biology, Cryptochromes, DNA-Binding Proteins, Exodeoxyribonucleases, Checkpoint Kinase 1, biological phenomena, cell phenomena, and immunity, Protein Kinases, DNA Damage, Transcription Factors
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::15bee6307d58e5f823589e30321db635Test
https://doi.org/10.1128/mcb.25.8.3109-3116.2005Test