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المؤلفون: Jeremy Schwartzentruber, Chandree L. Beaulieu, Karina Horsting-Wethly, Erika Aberg, Dennis E. Bulman, Yoko Ito, Lynette S. Penney, Kym M. Boycott, Jacek Majewski, Afsana Ahmed, Diana Vermunt-de Koning, Richard J. Rodenburg, Amanda C. Smith
المصدر: Journal of Inherited Metabolic Disease, 41, 719-729
Journal of Inherited Metabolic Disease, 41, 4, pp. 719-729مصطلحات موضوعية: 0301 basic medicine, Coenzyme Q10, medicine.medical_specialty, Genetic heterogeneity, business.industry, Mitochondrial disease, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Compound heterozygosity, medicine.disease, 3. Good health, 03 medical and health sciences, chemistry.chemical_compound, Exon, 030104 developmental biology, Endocrinology, All institutes and research themes of the Radboud University Medical Center, chemistry, Internal medicine, Lactic acidosis, Genetics, medicine, Leigh disease, business, Genetics (clinical), Exome sequencing
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2Academic Journal
المؤلفون: Stephen W. Mason, Erika Aberg, Carol Lawetz, Rachel Delong, Paul Whitehead, Michel Liuzzi
المساهمون: The Pennsylvania State University CiteSeerX Archives
وصف الملف: application/pdf
Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.689.4397; http://www.ncbi.nlm.nih.gov/pmc/articles/PMC228475/pdf/0534.pdf
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3Academic Journal
المؤلفون: Paul Whitehead, Michel Liuzzi, Stephen W. Mason, Erika Aberg, Carol Lawetz, Rachel Delong
المساهمون: The Pennsylvania State University CiteSeerX Archives
وصف الملف: application/pdf
Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.629.2602; http://jvi.asm.org/content/77/19/10670.full.pdf
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4Academic Journal
المؤلفون: Christine M. Szymanski, Frank St. Michael, David C. Watson, Nicolas Cadotte, Luc Tessier, Erika Aberg, John F. Kelly, Jean-Robert Brisson, Harold C. Jarrell, N. Martin Young, Patricia Lanthier
مصطلحات موضوعية: Cell Biology, Molecular Biology, Biochemistry
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5
المؤلفون: Jacek Majewski, Erika Aberg, Haiyan Jiang, Mathew Nightingale, Christopher R. McMaster, Somayyeh Fahiminiya, Yuhao Shi, Daniel Gaston, Ellen Wood, Roxanne M. Gillett, Philip D. Acott, Mark E. Samuels, Christine Macgillivray, Lynette S. Penney, M. Naeem Khan, Marissa A. LeBlanc, Andrew C. Orr, Karen Bedard
المصدر: Human Genetics. 132:1223-1234
مصطلحات موضوعية: Canada, DNA Copy Number Variations, Genotype, RNA Splicing, Pseudogene, Biology, Kidney, Occludin, medicine.disease_cause, Polymorphism, Single Nucleotide, symbols.namesake, Exon, Genetics, Polymicrogyria, medicine, Humans, Exome, Genetics (clinical), Exome sequencing, Gene Rearrangement, Sanger sequencing, Mutation, Homozygote, Brain, Calcinosis, Chromosome Mapping, Exons, Sequence Analysis, DNA, medicine.disease, Phenotype, Introns, Pedigree, Malformations of Cortical Development, Child, Preschool, symbols, Female, Multiplex Polymerase Chain Reaction, Gene Deletion
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6
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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7
المؤلفون: Amanda C, Smith, Yoko, Ito, Afsana, Ahmed, Jeremy A, Schwartzentruber, Chandree L, Beaulieu, Erika, Aberg, Jacek, Majewski, Dennis E, Bulman, Karina, Horsting-Wethly, Diana Vermunt-de, Koning, Richard J, Rodenburg, Kym M, Boycott, Lynette S, Penney
المصدر: Journal of inherited metabolic disease. 41(4)
مصطلحات موضوعية: Male, Mitochondrial Diseases, Muscle Weakness, Ubiquinone, Siblings, Infant, Newborn, Pregnancy, Mutation, Exome Sequencing, Humans, Acidosis, Lactic, Ataxia, Female, Autopsy, Leigh Disease
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8
المؤلفون: Erika Aberg, Rachel DeLong, Carol Lawetz, Stephen W. Mason, Michel Liuzzi, Paul Whitehead
المصدر: Journal of Virology. 77:10670-10676
مصطلحات موضوعية: Transcription, Genetic, Immunology, Replication, Genome, Viral, Biology, Virus Replication, medicine.disease_cause, Microbiology, Chromatography, Affinity, Virus, Chloramphenicol acetyltransferase, Viral Proteins, chemistry.chemical_compound, Affinity chromatography, Transcription (biology), Virology, RNA polymerase, medicine, Humans, Phosphorylation, Molecular biology, Respiratory syncytial virus (RSV), chemistry, Viral replication, Respiratory Syncytial Virus, Human, Insect Science
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9
المؤلفون: Kathleen A. Leppig, Rhonda E. Schnur, Robert Roger Lebel, Santhosh Girirajan, Kisha D. Johnson, Rosemarie Smith, Brad Angle, Robyn A. Filipink, Susie Ball, Dmitriy Niyazov, Luis F. Escobar, J. Edward Spence, Bradley P. Coe, Marjan M. Nezarati, Evan E. Eichler, Wendy S. Meschino, Jill A. Rosenfeld, Juliann Mcconnell, Salmo Raskin, Campbell K. Brasington, Lisa G. Shaffer, Sumit Parikh, Neil R. Friedman, Gordon C. Gowans, Natasha Shur, Dima El-Khechen, Carol L. Clericuzio, Amy Goldstein, Erika Aberg, Donna M. Martin, Laura S. Martin, David W. Stockton, Alexander Asamoah, Lynette S. Penney, Heidi Thiese, Blake C. Ballif, Erin P. Carmany, Kelly E. Jackson, Kiana Siefkas, Judith A. Martin, Marianne McGuire
المصدر: The New England journal of medicine. 367(14)
مصطلحات موضوعية: Male, DNA Copy Number Variations, Developmental Disabilities, Genomics, Biology, Congenital Abnormalities, Genetic Heterogeneity, Sex Factors, Intellectual Disability, Genotype, Humans, Copy-number variation, Genetic variability, Autistic Disorder, Child, Oligonucleotide Array Sequence Analysis, Genetics, Comparative Genomic Hybridization, Genetic heterogeneity, Genome, Human, General Medicine, Phenotype, Human genome, Female, Common disease-common variant, Comparative genomic hybridization