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المؤلفون: Alanna Strong, Soumya Rao, Sandra von Hardenberg, Dong Li, Liza L. Cox, Paul C. Lee, Li Q. Zhang, Waheed Awotoye, Tamir Diamond, Jessica Gold, Catherine Gooch, Lord Jephthah Joojo Gowans, Hakon Hakonarson, Anne Hing, Kathleen Loomes, Nicole Martin, Mary L. Marazita, Tarja Mononen, David Piccoli, Rolph Pfundt, Salmo Raskin, Stephen W. Scherer, Nara Sobriera, Courtney Vaccaro, Xiang Wang, Deborah Watson, Rosanna Weksberg, Elizabeth Bhoj, Jeffrey C. Murray, Andrew C. Lidral, Azeez Butali, Michael F. Buckley, Tony Roscioli, David A. Koolen, Laurie H. Seaver, Cynthia A. Prows, Rolf W. Stottmann, Timothy C. Cox
المصدر: American Journal of Medical Genetics. Part A, 191, 1227-1239
American Journal of Medical Genetics. Part A, 191, 5, pp. 1227-1239مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Genetics, Genetics (clinical)
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المؤلفون: Tarja Mononen, Benjamin Currall, Dong-Young Donna Lee, Samantha L.P. Schilit, Carrie Hanscom, Cinthya J. Zepeda-Mendoza, Ryan L. Collins, Lisa S. Nolan, Tammy Kammin, Michael E. Talkowski, Vamsee Pillalamarri, Ruen Yao, Cynthia C. Morton, Jun Shen, James F. Gusella
المصدر: European Journal of Human Genetics. 24:1622-1626
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Hearing loss, Developmental Disabilities, Short Report, Chromosome Breakpoints, Chromosomal translocation, Biology, Congenital hearing loss, Translocation, Genetic, 03 medical and health sciences, 0302 clinical medicine, Genetic linkage, Cell Line, Tumor, otorhinolaryngologic diseases, Genetics, medicine, Humans, Hearing Loss, Genetics (clinical), Orphan receptor, Infant, Newborn, Syndrome, Middle Aged, Phenotype, Pedigree, 030104 developmental biology, Receptors, Estrogen, Chromosomes, Human, Pair 1, Chromosomes, Human, Pair 5, Female, Estrogen-related receptor gamma, medicine.symptom, 030217 neurology & neurosurgery
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المؤلفون: Bert Callewaert, Robert J. Hopkin, David A. Koolen, Hennie T. Brüggenwirth, Dezso David, Heather L. Ferguson, Helen Cox, Claire Redin, Joseph V. Thakuria, Ryan L. Collins, Mary-Alice Abbott, Michael E. Talkowski, Sjors Middelkamp, Michael J. Macera, Salmo Raskin, William J. Rhead, Heather Fisher, Han G. Brunner, Emmanuelle Lemyre, Margo Grady, Elyse Mitchell, Tarja Mononen, Sofia L. Alcaraz-Estrada, Cristin Griffis, Emily Moe, Samantha L.P. Schilit, Matthew J. Waterman, Colby Chiang, Aggie W. M. Nieuwint, Ivo Renkens, Joan F. Atkin, Jessie C. Jacobsen, Shehla Mohammed, Ernie M.H.F. Bongers, Maria de la Concepcion A Yerena-de Vega, Wigard P. Kloosterman, Jiddeke M. van de Kamp, Ton van Essen, Liya R Mikami, Tom Cushing, Conny M. A. van Ravenswaaij-Arts, Melita Irving, Kwame Anyane-Yeboa, Diane Masser-Frye, Catarina M. Seabra, Daniela Giachino, Bert B.A. de Vries, Brynn Levy, Caroline Antolik, Tina M. Bartell, Erika Aberg, Edwin Cuppen, Pamela Gerrol, Shahrin Pereira, Megan Mortenson, Raul Eduardo Pina Aguilar, Zehra Ordulu, Jennelle C. Hodge, Nicole de Leeuw, Troy J. Gliem, Michael W. McClellan, Sarah Vergult, Julia Tagoe, Giulia Pregno, Sandhya Parkash, David R. FitzPatrick, Giorgia Mandrile, Catharina M L Volker-Touw, Joseph T. Glessner, Danielle Perrin, Haibo Li, Peter M. Kroisel, Rhett Adley, Jodi D. Hoffman, Dorothy Warburton, Lauren Margolin, David J. Harris, Omar A. Abdul-Rahman, Ineke van der Burgt, Benjamin Currall, Monika Weisz Hubshman, Marjolijn C.J. Jongmans, Roberto T. Zori, William Lawless, Cynthia Lim, Andrea Hanson-Kahn, Vamsee Pillalamarri, Ken Corning, Tamara Mason, Yu An, Pino J. Poddighe, Susan P. Pauker, Cinthya J Zepeda Mendoza, Fowzan S. Alkuraya, Mira Irons, Sandra Janssens, Ranad Shaheen, Kathleen A. Leppig, Erica Spiegel, Chester W. Brown, Cynthia C. Morton, Filip Roelens, Ron Hochstenbach, Tamison Jewett, James F. Gusella, John P. Johnson, Brett H. Graham, Björn Menten, Annelies Dheedene, Rosamund Hill, Eva H. Brilstra, Alex V. Levin, Carlo Marcelis, Anna Wilson, A. Micheil Innes, Matthew A. Deardorff, Marc D'Hooghe, Elizabeth Beyer, Katy Phelan, Jayla Ruliera, Carrie Hanscom, Mark A. Hayden, Debra Rita, Edward J. Lose, Poornima Manavalan, Jerome Korzelius, Susan Wiley, Harrison Brand, Matthew R. Stone, Diane Lucente, Markus J. van Roosmalen, Tammy Kammin, Rebecca Sparkes, Patrick Rump, Stephen G. Kahler, Graciela Moya, Bregje W.M. van Bon, Blair Stevens, Eric C. Liao, Karen W. Gripp, Yves Lacassie, Dawn L. Earl, Erik C. Thorland, Linda M. Reis, Andrea L. Gropman, Jonathan A. Bernstein, Ian Blumenthal, Mary-Anne Anderson, Hong Li
المساهمون: Erasmus MC other, Klinische Genetica, RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA Klinische Genetica (5), Human genetics, AGEM - Endocrinology, metabolism and nutrition, AGEM - Inborn errors of metabolism, Amsterdam Neuroscience - Complex Trait Genetics, Clinical Cognitive Neuropsychiatry Research Program (CCNP)
المصدر: Nature Genetics, 49(1), 36-45. Nature Publishing Group
Redin, C, Brand, H, Collins, R L, Kammin, T, Mitchell, E, Hodge, J C, Hanscom, C, Pillalamarri, V, Seabra, C M, Abbott, M-A, Abdul-Rahman, O A, Aberg, E, Adley, R, Alcaraz-Estrada, S L, Alkuraya, F S, An, Y, Anderson, M-A, Antolik, C, Anyane-Yeboa, K, Atkin, J F, Bartell, T, Bernstein, J A, Beyer, E, Blumenthal, I, Bongers, E M H F, Brilstra, E H, Brown, C W, Brüggenwirth, H T, Callewaert, B, Chiang, C, Corning, K, Cox, H, Cuppen, E, Currall, B B, Cushing, T, David, D, Deardorff, M A, Dheedene, A, D'Hooghe, M, de Vries, B B A, Earl, D L, Ferguson, H L, Fisher, H, FitzPatrick, D R, Gerrol, P, Giachino, D, Glessner, J T, Gliem, T, Grady, M, Graham, B H, Griffis, C, Gripp, K W, Gropman, A L, Hanson-Kahn, A, Harris, D J, Hayden, M A, Hill, R, Hochstenbach, R, Hoffman, J D, Hopkin, R J, Hubshman, M W, Innes, A M, Irons, M, Irving, M, Jacobsen, J C, Janssens, S, Jewett, T, Johnson, J P, Jongmans, M C, Kahler, S G, Koolen, D A, Korzelius, J, Kroisel, P M, Lacassie, Y, Lawless, W, Lemyre, E, Leppig, K, Levin, A V, Li, H, Li, H, Liao, E C, Lim, C, Lose, E J, Lucente, D, Macera, M J, Manavalan, P, Mandrile, G, Marcelis, C L, Margolin, L, Mason, T, Masser-Frye, D, McClellan, M W, Mendoza, C J Z, Menten, B, Middelkamp, S, Mikami, L R, Moe, E, Mohammed, S, Mononen, T, Mortenson, M E, Moya, G, Nieuwint, A W, Ordulu, Z, Parkash, S, Pauker, S P, Pereira, S, Perrin, D, Phelan, K, Aguilar, R E P, Poddighe, P J, Pregno, G, Raskin, S, Reis, L, Rhead, W, Rita, D, Renkens, I, Roelens, F, Ruliera, J, Rump, P, Schilit, S L P, Shaheen, R, Sparkes, R, Spiegel, E, Stevens, B, Stone, M R, Tagoe, J, Thakuria, J V, van Bon, B W, van de Kamp, J, van Der Burgt, I, van Essen, T, van Ravenswaaij-Arts, C M, van Roosmalen, M J, Vergult, S, Volker-Touw, C M L, Warburton, D P, Waterman, M J, Wiley, S, Wilson, A, Yerena-de Vega, M D L C A, Zori, R T, Levy, B, Brunner, H G, de Leeuw, N, Kloosterman, W P, Thorland, E C, Morton, C C, Gusella, J F & Talkowski, M E 2017, ' The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies ', Nature Genetics, vol. 49, no. 1, pp. 36-45 . https://doi.org/10.1038/ng.3720
Nature Genetics, 49, 1, pp. 36-45
Nature Genetics, 49, 36-45
Redin, C, Brand, H, Collins, R L, Kammin, T, Mitchell, E, Hodge, J C, Hanscom, C, Pillalamarri, V, Seabra, C M, Abbott, M A, Abdul-Rahman, O A, Aberg, E, Adley, R, Alcaraz-Estrada, S L, Alkuraya, F S, An, Y, Anderson, M A, Antolik, C, Anyane-Yeboa, K, Atkin, J F, Bartell, T, Bernstein, J A, Beyer, E, Blumenthal, I, Bongers, E M H F, Brilstra, E H, Brown, C W, Brüggenwirth, H T, Callewaert, B, Chiang, C, Corning, K, Cox, H, Cuppen, E, Currall, B B, Cushing, T, David, D, Deardorff, M A, Dheedene, A, D'Hooghe, M, De Vries, B B A, Earl, D L, Ferguson, H L, Fisher, H, FitzPatrick, D R, Gerrol, P, Giachino, D, Glessner, J T, Gliem, T, Grady, M, Graham, B H, Griffis, C, Gripp, K W, Gropman, A L, Hanson-Kahn, A, Harris, D J, Hayden, M A, Hill, R, Hochstenbach, R, Hoffman, J D, Hopkin, R J, Hubshman, M W, Innes, A M, Irons, M, Irving, M, Jacobsen, J C, Janssens, S, Jewett, T, Johnson, J P, Jongmans, M C, Kahler, S G, Koolen, D A, Korzelius, J, Kroisel, P M, Lacassie, Y, Lawless, W, Lemyre, E, Leppig, K, Levin, A V, Li, H, Li, H, Liao, E C, Lim, C, Lose, E J, Lucente, D, MacEra, M J, Manavalan, P, Mandrile, G, Marcelis, C L, Margolin, L, Mason, T, Masser-Frye, D, McClellan, M W, Zepeda Mendoza, C J, Menten, B, Middelkamp, S, Mikami, L R, Moe, E, Mohammed, S, Mononen, T, Mortenson, M E, Moya, G, Nieuwint, A W, Ordulu, Z, Parkash, S, Pauker, S P, Pereira, S, Perrin, D, Phelan, K, Piña Aguilar, R E, Poddighe, P J, Pregno, G, Raskin, S, Reis, L, Rhead, W, Rita, D, Renkens, I, Roelens, F, Ruliera, J, Rump, P, Schilit, S L P, Shaheen, R, Sparkes, R, Spiegel, E, Stevens, B, Stone, M R, Tagoe, J, Thakuria, J V, Van Bon, B W, Van De Kamp, J, Van Der Burgt, I, Van Essen, T, Van Ravenswaaij-Arts, C M, Van Roosmalen, M J, Vergult, S, Volker-Touw, C M L, Warburton, D P, Waterman, M J, Wiley, S, Wilson, A, Yerena-De Vega, M D L C A, Zori, R T, Levy, B, Brunner, H G, De Leeuw, N, Kloosterman, W P, Thorland, E C, Morton, C C, Gusella, J F & Talkowski, M E 2017, ' The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies ', Nature Genetics, vol. 49, no. 1, pp. 36-45 . https://doi.org/10.1038/ng.3720
Nature Genetics, 49(1), 36–45. Nature Publishing Groupمصطلحات موضوعية: 0301 basic medicine, Male, INTELLECTUAL DISABILITY, Autism, Genome-wide association study, 030105 genetics & heredity, OF-FUNCTION MUTATIONS, balanced chromosomal abnormalities (BCAs), MEF2C, Genetics, Gene Rearrangement, Cytogenetic Abnormalities, Chromothripsis, DEVELOPMENTAL DELAY, Inversion, karyotypes, Microdeletion syndrome, Doenças Genómicas, Structural Variation, Medical genetics, Female, Topologically Associated Domain (TAD), Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Genetic Markers, medicine.medical_specialty, Human Congenital Anomalies, MICRODELETION SYNDROME, Translocation, Genomics, Biology, Article, Congenital Abnormalities, Structural variation, 03 medical and health sciences, Cytogenetics, Intellectual Disability, medicine, Journal Article, Humans, Genetic Predisposition to Disease, Chromosome Aberrations, Whole-genome sequencing, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], CHROMOSOME REARRANGEMENTS, karyotypes, balanced chromosomal abnormalities (BCAs), Whole-genome sequencing, AUTISM SPECTRUM DISORDER, CANCER GENOMES, Gene rearrangement, Balanced Chromosomal Abnormality, Doenças Genéticas, STRUCTURAL VARIATION, 030104 developmental biology, Congenital Anomaly, SEVERE MENTAL-RETARDATION, DE-NOVO MUTATIONS, Genome-Wide Association Study
وصف الملف: application/vnd.openxmlformats-officedocument.wordprocessingml.document; application/pdf; image/pdf
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المؤلفون: Liisa Kuusela, Eila Herrgård, Leena Pääkkönen, Esa Mervaala, Reetta Kälviäinen, Ulla Stenbäck, Tarja Mononen, Raija-Liisa Airaksinen, Marja Äikiä
المصدر: Epilepsy Research. 73:122-128
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Pediatrics, Adolescent, media_common.quotation_subject, medicine.medical_treatment, Ring chromosome, Chromosomes, Human, Pair 20, Ring chromosome 20, Lamotrigine, Epilepsy, medicine, Humans, Ring Chromosomes, Psychiatry, media_common, Psychomotor learning, Daughter, Learning Disabilities, Mosaicism, Cognitive disorder, Electroencephalography, medicine.disease, Anticonvulsant, Neurology, Female, Neurology (clinical), Cognition Disorders, Psychology, medicine.drug
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المؤلفون: Ilkka Mononen, Eeva-Liisa Romppanen, Tarja Mononen
المصدر: Clinical Chemistry. 44:68-71
مصطلحات موضوعية: DNA Ligases, Clinical Biochemistry, Enzyme-Linked Immunosorbent Assay, Biology, medicine.disease_cause, Polymerase Chain Reaction, Acyl-CoA Dehydrogenase, Cell Line, law.invention, Acyl-CoA Dehydrogenases, law, medicine, Humans, Genetic Testing, Allele, Genotyping, Gene, Alleles, Finland, Polymerase chain reaction, Genetics, Mutation, Transition (genetics), Biochemistry (medical), Acyl CoA dehydrogenase, DNA, Medium-Chain Acyl-CoA Dehydrogenase Deficiency, Molecular biology, Amino Acid Substitution, biology.protein, Oligonucleotide Probes
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::37c2cedc753bbae2786ec2bc8b792c26
https://doi.org/10.1093/clinchem/44.1.68 -
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المؤلفون: Päivi Ylikangas, Tarja Mononen, Ilkka Mononen, Kari Savolainen, Vesa Kaartinen
المصدر: Scopus-Elsevier
مصطلحات موضوعية: Adult, Pathology, medicine.medical_specialty, Adolescent, Aspartylglucosaminuria, G protein, Lymphocyte, Clinical Biochemistry, Fluorescence spectrometry, Glycosylasparaginase, Polymerase Chain Reaction, Acetylglucosamine, Reference Values, medicine, Humans, Fluorometry, Lymphocytes, Child, Incubation, Chromatography, High Pressure Liquid, Finland, Aged, chemistry.chemical_classification, Biochemistry (medical), Serum plasma, Aspartylglucosylaminase, DNA, Hydrogen-Ion Concentration, Middle Aged, medicine.disease, Molecular biology, Lysosomal Storage Diseases, Enzyme, medicine.anatomical_structure, chemistry, Mutation
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::37ee7e9dacf2ad328c4265cbc1fd7e70
https://doi.org/10.1093/clinchem/40.3.385 -
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المؤلفون: H von Koskull, Tarja Mononen, V. Juvonen, Raija-Liisa Airaksinen
المصدر: Clinical genetics. 72(6)
مصطلحات موضوعية: Male, Molecular Sequence Data, Biology, law.invention, 03 medical and health sciences, Fragile X Mental Retardation Protein, Trinucleotide Repeats, law, Chromosome instability, Chromosomal Instability, Gene Duplication, Gene duplication, Genetics, Homologous chromosome, medicine, Humans, Repeated sequence, Genetics (clinical), Polymerase chain reaction, Finland, 030304 developmental biology, DNA Primers, 0303 health sciences, Base Sequence, 030305 genetics & heredity, medicine.disease, FMR1, 3. Good health, Fragile X syndrome, Fragile X Syndrome, Female, Tandem exon duplication
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المؤلفون: Peter De Jonghe, Dirk Goossens, Jurgen Del-Favero, Thomas D. Bird, José M Prats, Nathalie Verpoorten, Florian Stögbauer, J. Meuleman, Eila M. Airaksinen, Tarja Mononen, Anja Schirmacher, Mark C. Hannibal, E. Bernd Ringelstein, Benjamin G Betz, Vincent Timmerman, Phillip F. Chance, Gregor Kuhlenbäumer, Gert Kurlemann, Adolfo Pou Serradell, Hyun Hor, Eva Nelis, Peter Young, Els De Vriendt, Giles D. J. Watts, Hartmut Halfter, Christine Van Broeckhoven, Joy Irobi
المصدر: Nature genetics
مصطلحات موضوعية: Cell division, Molecular Sequence Data, macromolecular substances, Hereditary neuralgic amyotrophy, Biology, medicine.disease_cause, Septin, GTP Phosphohydrolases, Mice, Dogs, Genetics, medicine, Animals, Brachial Plexus Neuritis, Humans, Amino Acid Sequence, Gene, Mutation, Base Sequence, fungi, Chromosome, Amyotrophy, medicine.disease, Rats, biological phenomena, cell phenomena, and immunity, Carcinogenesis, Septins, Chromosomes, Human, Pair 17
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المؤلفون: Matti, Korppi, Jussi, Korhonen, Kaija, Lindström, Tarja, Mononen
المصدر: Duodecim; laaketieteellinen aikakauskirja. 119(16)
مصطلحات موضوعية: Internet, DNA Mutational Analysis, Humans, Point Mutation, Female, Immunoglobulin D, Child, Referral and Consultation, Familial Mediterranean Fever
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::c83b120a627c99d0a6e73d48d6d94a45
https://pubmed.ncbi.nlm.nih.gov/14535030 -
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المؤلفون: Pirjo Halonen, Veikko Jokela, Riitta Matilainen, Juhani Partanen, Eila M. Airaksinen, Tarja Mononen, Kirsi Mustonen
المصدر: Epilepsia. 41(9)
مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, Comorbidity, Severity of Illness Index, Cerebral palsy, Cohort Studies, Epilepsy, Risk Factors, Intellectual Disability, Epidemiology, medicine, Humans, Longitudinal Studies, Risk factor, Age of Onset, Child, Finland, Psychomotor retardation, Cerebral Palsy, Age Factors, Electroencephalography, medicine.disease, Survival Analysis, Neurology, Female, Neurology (clinical), medicine.symptom, Age of onset, Psychology, Cohort study