المؤلفون: Grazia M.S. Mancini, Kathleen Romijn, Alice S. Brooks, Hennie T. Brüggenwirth, Marjon van Slegtenhorst, Ingrid M.B.H. van de Laar, Lutgarde C.P. Govaerts, Joan N.R. Kromosoeto, Malgorzata I. Srebniak, Robert-Jan H. Galjaard, Marike Polak, Diane Van Opstal, Attie T.J.I. Go, Yolande van Bever, Lies H. Hoefsloot, Marieke Joosten, Martina Wilke, Maarten F. C. M. Knapen, Karin E. M. Diderich

المساهمون: Clinical Genetics, Research Methods and Techniques, Obstetrics & Gynecology

المصدر: Acta Obstetricia et Gynecologica Scandinavica, 100(6), 1-10. Wiley-Blackwell
Acta Obstetricia et Gynecologica Scandinavica

مصطلحات موضوعية: Adult, medicine.medical_specialty, Microarray, Genetic counseling, Chromosome Disorders, Prenatal diagnosis, Ultrasonography, Prenatal, whole exome sequencing, 03 medical and health sciences, 0302 clinical medicine, Pregnancy, Prenatal Diagnosis, Exome Sequencing, ultrasound anomalies, medicine, Humans, Abnormalities, Multiple, Genetic Testing, Original Research Article, fetal anomalies, 030212 general & internal medicine, Exome, Exome sequencing, Retrospective Studies, prenatal whole exome sequencing testing, Fetus, 030219 obstetrics & reproductive medicine, Obstetrics, business.industry, Genetic disorder, Obstetrics and Gynecology, Retrospective cohort study, General Medicine, medicine.disease, Fetal Diseases, diagnostic yield, Female, business

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04ae4bf0f35164bb766af6f4fd8ffc0b
https://hdl.handle.net/1765/132863

المؤلفون: Marjon van Slegtenhorst, Dean Phelan, Jan D. H. Jongbloed, Christine E. Seidman, Johanna C. Herkert, Francisco Fernández-Avilés, Chloe A Stutterd, Amy E. Roberts, Radhika Agarwal, Paul J. Lockhart, Mary Ella M Pierpont, Ingrid M.B.H. van de Laar, Irene M. van Langen, Ludolf G. Boven, Yolande van Bever, Raquel Yotti, Michael A. Burke, Jonathan G. Seidman, Paul A. James, Judith M.A. Verhagen, Kai'En E. Leong, David J. Amor, Elizabeth A. Braunlin, Ahmet Okay Ḉağlayan, Alireza Haghighi, Neal K. Lakdawala, Lennie van Osch-Gevers, Marian Bulthuis, Ivan Macciocca, Daniela Q.C.M. Barge-Schaapveld, Natasha J Brown, Erwin Birnie

المساهمون: Health Psychology Research (HPR), Reproductive Origins of Adult Health and Disease (ROAHD), Cardiovascular Centre (CVC), Clinical Genetics, Pediatrics

المصدر: American Heart Journal, 225, 108-119. MOSBY-ELSEVIER
American Heart Journal, 225, 108-119. Mosby Inc.

مصطلحات موضوعية: Adult, Cardiomyopathy, Dilated, Heterozygote, medicine.medical_specialty, Heart disease, Mutation, Missense, Cardiomyopathy, Muscle Proteins, 030204 cardiovascular system & hematology, Gastroenterology, CLASSIFICATION, Muscle hypertrophy, Electrocardiography, 03 medical and health sciences, 0302 clinical medicine, Loss of Function Mutation, Ventricular hypertrophy, Internal medicine, medicine, Humans, Missense mutation, Abnormalities, Multiple, 030212 general & internal medicine, Age of Onset, Child, Chromosomes, Human, Pair 15, HYPERTROPHIC CARDIOMYOPATHY, business.industry, Hypertrophic cardiomyopathy, Infant, Dilated cardiomyopathy, ASSOCIATION, Cardiomyopathy, Hypertrophic, medicine.disease, PREVALENCE, Phenotype, Echocardiography, Child, Preschool, CELLS, Age of onset, Cardiomyopathies, Cardiology and Cardiovascular Medicine, business, GENOMICS, Protein Kinases

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bbaf369ded8d43f61c146566372d2716
https://doi.org/10.1016/j.ahj.2020.03.023

المؤلفون: Martin R. Larsen, Shiva Ganesan, Tobias Brünger, Nicolas Chassaing, Caroline Nava, Renzo Guerrini, Kim L. McBride, Anneke Kievit, Elena Parrini, Dennis Lal, Lisbeth Tranebjærg, Christel Depienne, Aleksandra Jezela-Stanek, Matthew Pastore, Carolina Fischinger Moura de Souza, Berten Ceulemans, Hannah Moore, Peter Krawitz, Gaetan Lesca, Ingo Helbig, Valerie Layet, Friedrich Bosch, Alexandra Afenjar, Rikke S. Møller, Carlos Ferreira, Sophie Naudion, Milda Endziniene, Alexej Knaus, Lilian Bomme Ousager, Marie-Christine Nougues, Caroline Karsenty, Johanne Kragh Hansen, Allan Bayat, Elena Gardella, Anne-Marie Guerrot, Marije Meuwissen, Tahsin Stefan Barakat, Mads Thomassen, Patrick Calvas, F Kooy, Jurgen H Schelhaas, Svetlana Gataullina, Lynne A. Wolfe, Bert Callewaert, Ashley Thomas, Steven A. Skinner, Lars Hansen, Manuela Pendziwiat, Cécile Freihuber, Cyril Mignot, Krzysztoł Szczałuba, Marjon van Slegtenhorst, Martino Montomoli, Christian Korff

المساهمون: Clinical Genetics

المصدر: Epilepsia
Epilepsia, 61(6), 1142-1155. Wiley-Blackwell Publishing Ltd
Bayat, A, Knaus, A, Pendziwiat, M, Afenjar, A, Stefan Barakat, T, Bosch, F, Callewaert, B, Calvas, P, Ceulemans, B, Chassaing, N, Depienne, C, Endziniene, M, Ferreira, C R, Moura de Souza, C F, Freihuber, C, Ganesan, S, Gataullina, S, Guerrini, R, Guerrot, A-M, Hansen, L, Jezela-Stanek, A, Karsenty, C, Kievit, A, Kooy, F R, Korff, C M, Kragh Hansen, J, Larsen, M, Layet, V, Lesca, G, McBride, K L, Meuwissen, M, Mignot, C, Montomoli, M, Moore, H, Naudion, S, Nava, C, Nougues, M-C, Parrini, E, Pastore, M, Schelhaas, J H, Skinner, S, Szczałuba, K, Thomas, A, Thomassen, M, Tranebjaerg, L, van Slegtenhorst, M, Wolfe, L A, Lal, D, Gardella, E, Bomme Ousager, L, Brünger, T, Helbig, I, Krawitz, P & Møller, R S 2020, ' Lessons learned from 40 novel PIGA patients and a review of the literature ', Epilepsia, vol. 61, no. 6, pp. 1142-1155 . https://doi.org/10.1111/epi.16545

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Fryns syndrome phenotype, bioinformatical comparison, Medizin, Limb Deformities, Congenital, Cardiomyopathy, genotype-phenotype correlation, Biology, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Germline mutation, medicine, Humans, Clinical significance, mild developmental delay, Amino Acid Sequence, Global developmental delay, Child, Hernia, Diaphragmatic, Genetics, Infant, Newborn, Facies, Genetic Variation, Membrane Proteins, Electroencephalography, PIGA, medicine.disease, Magnetic Resonance Imaging, Phenotype, Hypotonia, 030104 developmental biology, Neurology, Cohort, Neurology (clinical), Human medicine, medicine.symptom, Congenital disorder of glycosylation, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ba27e2d50f92ed752b1a8fec4f4989b
https://doi.org/10.1111/epi.16545

المؤلفون: Stéphane Bézieau, Médéric Jeanne, Anne Sophie Denommé-Pichon, Jason Laufman, William B. Dobyns, Sébastien Küry, Judith Halewa, Elliott H. Sherr, Dominique Bonneau, Julie Vogt, Sophie Blesson, Hélène Demory, Jérôme Honnorat, Helene Cox, Séverine Audebert-Bellanger, Marie Laure Vuillaume, Sylviane Marouillat, Estelle Colin, Avgi Andreou, Emanuela Argilli, Bertrand Isidor, Bernhard Lohkamp, Miroslava Hancarova, Rajesh Khanna, Davit Babikyan, Sarka Bendova, Kimberly A. Aldinger, Aubin Moutal, Saskia M. Maas, Marjon van Slegtenhorst, Annick Toutain, Sylvie Odent, Rose Anne Thépault, Natella Kostandyan, Eleina M. England, Zdenek Sedlacek, Richard Redon, M. Mahdi Motazacker, Frédéric Laumonnier, Brigitte Gilbert-Dussardier, Grazia M.S. Mancini

المساهمون: Imagerie et cerveau (iBrain - Inserm U1253 - UNIV Tours ), Université de Tours (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), University of Arizona, Amsterdam UMC - Amsterdam University Medical Center, Erasmus University Medical Center [Rotterdam] (Erasmus MC), Birmingham Women's and Children's NHS Foundation Trust, University of Akron, Yerevan State Medical University after Mkhitar Heratsi, Charles University [Prague] (CU), Center for Integrative Brain Research, University of Washington [Seattle], University of California [Los Angeles] (UCLA), University of California (UC), Broad Institute of MIT and Harvard (BROAD INSTITUTE), Harvard Medical School [Boston] (HMS)-Massachusetts Institute of Technology (MIT)-Massachusetts General Hospital [Boston], MitoVasc - Physiopathologie Cardiovasculaire et Mitochondriale (MITOVASC), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Lipides - Nutrition - Cancer [Dijon - U1231] (LNC), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement, Centre hospitalier universitaire de Poitiers (CHU Poitiers), Centre hospitalier universitaire de Nantes (CHU Nantes), Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), CHU Pontchaillou [Rennes], Institut NeuroMyoGène (INMG), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Karolinska Institutet [Stockholm], National Human Genome Research Institute, Ministry of Health of the Czech Republic, DGOS, Wellcome Trust, Chard-Hutchinson, Xavier, Université de Tours-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Régional Universitaire de Tours (CHRU TOURS), Amsterdam UMC, University of California, Physiopathologie Cardiovasculaire et Mitochondriale (MITOVASC), Université de Bourgogne (UB)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Institut National de la Santé et de la Recherche Médicale (INSERM), Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )-Centre National de la Recherche Scientifique (CNRS)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), Clinical Genetics, Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Human Genetics, ANS - Cellular & Molecular Mechanisms, ANS - Complex Trait Genetics, ACS - Pulmonary hypertension & thrombosis

المصدر: American Journal of Human Genetics
American Journal of Human Genetics, 2021, 108 (5), pp.951-961. ⟨10.1016/j.ajhg.2021.04.004⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2021, 108 (5), pp.951-961. ⟨10.1016/j.ajhg.2021.04.004⟩
American Journal of Human Genetics, 108(5), 951-961. Cell Press
American journal of human genetics, vol 108, iss 5
Am J Hum Genet
American journal of human genetics, 108(5), 951-961. Cell Press

مصطلحات موضوعية: Models, Molecular, Male, 0301 basic medicine, Hydrolases, [SDV]Life Sciences [q-bio], Hippocampal formation, Medical and Health Sciences, 0302 clinical medicine, Neurodevelopmental disorder, Tubulin, Models, Neurotrophic factors, Cerebellum, Intellectual disability, 2.1 Biological and endogenous factors, Missense mutation, Aetiology, Child, dendrite branching, Genetics (clinical), de novo missense variants, Pediatric, Genetics & Heredity, DPYSL5, Biological Sciences, [SDV] Life Sciences [q-bio], corpus callosum agenesis, Mental Health, Child, Preschool, Neurological, Female, Microtubule-Associated Proteins, Adult, Neurite, Intellectual and Developmental Disabilities (IDD), primary neuronal cultures, Mutation, Missense, Biology, Young Adult, 03 medical and health sciences, Rare Diseases, Mediator, Report, Intellectual Disability, Genetics, medicine, Humans, Preschool, Corpus Callosum Agenesis, brain malformation, Neurosciences, Molecular, medicine.disease, neurodevelopmental disorder, Brain Disorders, 030104 developmental biology, Neurodevelopmental Disorders, Mutation, Missense, Agenesis of Corpus Callosum, Neuroscience, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e66e0d64a2aebf8eb64fc4124a065ea
https://hal.science/hal-03221134

المؤلفون: Marja W. Wessels, Yvonne M. Hoedemaekers, Alexander Hirsch, Jaap I. van Waning, Michiel Dalinghaus, Michelle Michels, Kadir Caliskan, Marjon van Slegtenhorst, Arend F.L. Schinkel, Arne S. IJpma, Robert M.W. Hofstra, Danielle Majoor-Krakauer

المساهمون: Clinical Genetics, Cardiology, Radiology & Nuclear Medicine, Pediatrics, Pathology

المصدر: Journal of the American College of Cardiology, 73(13), 1601-1611. ELSEVIER SCIENCE INC
Journal of the American College of Cardiology, 73(13), 1601-1611. Elsevier Inc.

مصطلحات موضوعية: Male, 030204 cardiovascular system & hematology, 0302 clinical medicine, Genotype, MAGNETIC-RESONANCE, Connectin, genetics, 030212 general & internal medicine, POSITION STATEMENT, LV hypertrophy, ECHOCARDIOGRAPHIC MEASUREMENTS, AMERICAN-SOCIETY, HYPERTROPHIC CARDIOMYOPATHY, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, noncompaction cardiomyopathy, Middle Aged, Phenotype, EUROPEAN-SOCIETY, Cardiology, cardiovascular system, outcome, Female, left ventricular noncompaction, Cardiology and Cardiovascular Medicine, Cardiomyopathies, Adult, Heart Defects, Congenital, NON-COMPACTION, medicine.medical_specialty, Noncompaction cardiomyopathy, Adolescent, 03 medical and health sciences, Young Adult, Internal medicine, medicine, Humans, cardiovascular diseases, Retrospective Studies, Myosin Heavy Chains, business.industry, LEFT-VENTRICULAR NONCOMPACTION, medicine.disease, DILATED CARDIOMYOPATHY, family screening, Left ventricular noncompaction, business, Cardiac phenotype, Carrier Proteins, CHAMBER QUANTIFICATION, Cardiac Myosins

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1fdeea5a32d8d71334f80d1250856cb
https://doi.org/10.1016/j.jacc.2018.12.085

المؤلفون: Grazia M.S. Mancini, Wim Vermeulen, Rebecca Meyer-Schuman, Marjon van Slegtenhorst, Marisa I. Mendes, Catherine Groden, Shino Shimada, Thomas Christian, Anja Raams, Desirée E.C. Smith, Ya-Ming Hou, L.M. Hussaarts-Odijk, Gajja S. Salomons, May Christine V. Malicdan, Martina Wilke, Molly E. Kuo, Eric van der Meijden, Anthony Antonellis, Arjan F. Theil, William A. Gahl, Frans W. Verheijen, Anneke Kievit, Wendy J. Introne

المساهمون: AGEM - Inborn errors of metabolism, AGEM - Endocrinology, metabolism and nutrition, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Clinical chemistry, Amsterdam Reproduction & Development (AR&D), Laboratory Genetic Metabolic Diseases, Amsterdam Gastroenterology Endocrinology Metabolism, Molecular Genetics, Clinical Genetics

المصدر: Kuo, M E, Theil, A F, Kievit, A, Malicdan, M C, Introne, W J, Christian, T, Verheijen, F W, Smith, D E C, Mendes, M I, Hussaarts-Odijk, L, van der Meijden, E, van Slegtenhorst, M, Wilke, M, Vermeulen, W, Raams, A, Groden, C, Shimada, S, Meyer-Schuman, R, Hou, Y M, Gahl, W A, Antonellis, A, Salomons, G S & Mancini, G M S 2019, ' Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails ', American journal of human genetics, vol. 104, no. 3, pp. 520-529 . https://doi.org/10.1016/j.ajhg.2019.01.006
American journal of human genetics, 104(3), 520-529. Cell Press
American Journal of Human Genetics, 104(3), 520-529. Cell Press

مصطلحات موضوعية: Adult, Male, Microcephaly, Developmental Disabilities, Sequence Homology, Genes, Recessive, Locus (genetics), Biology, Compound heterozygosity, Amino Acyl-tRNA Synthetases, Nail Diseases, Young Adult, 03 medical and health sciences, chemistry.chemical_compound, Charcot-Marie-Tooth Disease, Locus heterogeneity, Report, Genetics, medicine, Humans, Genetic Predisposition to Disease, Amino Acid Sequence, Allele, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Aminoacyl tRNA synthetase, 030305 genetics & heredity, Prognosis, medicine.disease, Phenotype, Pedigree, Complementation, chemistry, Mutation, Female, Hair Diseases

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f2d8d271dba76b194308ad16b8fa219
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85062280875&origin=inward

المؤلفون: Frans W. Verheijen, Robert M. Verdijk, Leontine van Unen, Ramanujan S. Hegde, Henriette ter Heide, Annette F. Baas, Herma C. van der Linde, Aida M. Bertoli-Avella, David Hassel, Marja W. Wessels, Judith M.A. Verhagen, Robert M.W. Hofstra, Peter G. J. Nikkels, Marjon van Slegtenhorst, Maryann H. Kivlen, Tjakko J. van Ham, Lennie van Osch-Gevers, Johanna C. Herkert, Ingrid M.B.H. van de Laar, Marianne Hoogeveen-Westerveld, Peter M. van Hasselt, Myrthe van den Born

المساهمون: Vrije Universiteit Amsterdam [Amsterdam] (VU), VU University Medical Center [Amsterdam], Architecture et réactivité de l'ARN (ARN), Centre National de la Recherche Scientifique (CNRS)-Université Louis Pasteur - Strasbourg I, Architecture et Réactivité de l'ARN (ARN), Institut de biologie moléculaire et cellulaire (IBMC), Université de Strasbourg (UNISTRA)-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Centre National de la Recherche Scientifique (CNRS)-Centre National de la Recherche Scientifique (CNRS), Département de génétique médicale, maladies rares et médecine personnalisée [CHRU Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Department of Clinical Genetics, Service de Biopathologie [CHRU Montpellier], Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), University of Duisbourg-Essen, UF Neurométabolique Bioclinique et Génétique [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Clinical Genetics, Pathology, Pediatrics, Laboratory Genetic Metabolic Diseases, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Pediatric surgery, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Amsterdam Reproduction & Development (AR&D), Laboratory Medicine, AGEM - Endocrinology, metabolism and nutrition, AGEM - Inborn errors of metabolism, Human genetics, Functional Genomics, Université Louis Pasteur - Strasbourg I-Centre National de la Recherche Scientifique (CNRS), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)

المصدر: Neurology, 92, 11, pp. e1225-e1237
Circulation. Genomic and Precision Medicine
Neurology
Neurology, American Academy of Neurology, 2019, 92 (11), pp.e1225. ⟨10.1212/WNL.0000000000007098⟩
Circ Genom Precis Med
Circulation-Genomic and Precision Medicine, 12(9), 397-406. Lippincott Williams & Wilkins
Neurology, 92(11), E1225-E1237. Lippincott Williams and Wilkins
van der Knaap, M S, Bugiani, M, Mendes, M I, Riley, L G, Smith, D E C, Rudinger-Thirion, J, Frugier, M, Breur, M, Crawford, J, van Gaalen, J, Schouten, M, Willems, M, Waisfisz, Q, Mau-Them, F T, Rodenburg, R J, Taft, R J, Keren, B, Christodoulou, J, Depienne, C, Simons, C, Salomons, G S & Mochel, F 2019, ' Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy ', Neurology, vol. 92, no. 11, pp. E1225-E1237 . https://doi.org/10.1212/WNL.0000000000007098
Neurology, 92, e1225-e1237
Neurology, 92(11), E1225-E1237. American Academy of Neurology
Circulation. Genomic and precision medicine, 12(9), 397. Lippincott Williams and Wilkins Ltd.
Circulation. Genomic and precision medicine, 12(9), 397-406. LIPPINCOTT WILLIAMS & WILKINS
Van Der Knaap, M S, Bugiani, M, Mendes, M I, Riley, L G, Smith, D E C, Rudinger-Thirion, J, Frugier, M, Breur, M, Crawford, J, Van Gaalen, J, Schouten, M, Willems, M, Waisfisz, Q, Mau-Them, F T, Rodenburg, R J, Taft, R J, Keren, B, Christodoulou, J, Depienne, C, Simons, C, Salomons, G S & Mochel, F 2019, ' Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy ', Neurology, vol. 92, no. 11, pp. E1225-E1237 . https://doi.org/10.1212/WNL.0000000000007098

مصطلحات موضوعية: 0301 basic medicine, Lysine-tRNA Ligase, Male, Pathology, Magnetic Resonance Spectroscopy, Medizin, membrane proteins, 030204 cardiovascular system & hematology, Mitochondrion, Deafness, medicine.disease_cause, Compound heterozygosity, Corrections, Leukoencephalopathy, Myelin, 0302 clinical medicine, Cytosol, Leukoencephalopathies, 030212 general & internal medicine, Ovarian Diseases, Transfer RNA Aminoacylation, Child, Zebrafish, MUTATION, Exome sequencing, Mutation, Brain, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], General Medicine, Middle Aged, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Magnetic Resonance Imaging, Mitochondria, Protein Transport, endoplasmic reticulum, medicine.anatomical_structure, Child, Preschool, Transfer RNA, ComputingMethodologies_DOCUMENTANDTEXTPROCESSING, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Biological Assay, Female, WRB, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Adult, cardiomyopathies, medicine.medical_specialty, Mitochondrial disease, Aminoacylation, Muscle disorder, Biology, Article, MEDIATES INSERTION, Amino Acyl-tRNA Synthetases, 03 medical and health sciences, SDG 3 - Good Health and Well-being, medicine, Animals, Point Mutation, Humans, Amino Acid Sequence, Allele, Alleles, COMPLEX, Genetic heterogeneity, business.industry, Arsenite Transporting ATPases, Leukodystrophy, Genetic Variation, Original Articles, Zebrafish Proteins, biology.organism_classification, DILATED CARDIOMYOPATHY, medicine.disease, zebrafish, GENE, Molecular biology, Disease Models, Animal, 030104 developmental biology, Membrane protein, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Neurology (clinical), MEMBRANE, business, Sequence Alignment, 030217 neurology & neurosurgery, exome

وصف الملف: application/pdf; text/plain; image/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8bca7f4ec7227c83a492cdb19e343058
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85062888821&origin=inward

المؤلفون: Katrine M. Johannesen, Kazushi Miya, Allan Bayat, Rikke S. Møller, Marius Kløvgaard, Nicola Pietrafusa, Marjon van Slegtenhorst, Tahsin Stefan Barakat, Martino Montomoli, Anneke Kievit, Jurgen H Schelhaas, Elena Parrini, Guido Rubboli, Lisbeth Tranebjærg, Renzo Guerrini, Zeynep Tümer

المساهمون: Clinical Chemistry, Clinical Genetics

المصدر: Bayat, A, Kløvgaard, M, Johannesen, K M, Stefan Barakat, T, Kievit, A, Montomoli, M, Parrini, E, Pietrafusa, N, Schelhaas, J, van Slegtenhorst, M, Miya, K, Guerrini, R, Tranebjærg, L, Tümer, Z, Rubboli, G & Møller, R S 2021, ' Deciphering the premature mortality in PIGA-CDG – An untold story ', Epilepsy Research, vol. 170, 106530 . https://doi.org/10.1016/j.eplepsyres.2020.106530
Epilepsy Research, 170:106530. Elsevier
Bayat, A, Kløvgaard, M, Johannesen, K M, Stefan Barakat, T, Kievit, A, Montomoli, M, Parrini, E, Pietrafusa, N, Schelhaas, J, van Slegtenhorst, M, Miya, K, Guerrini, R, Tranebjærg, L, Tümer, Z, Rubboli, G & Møller, R S 2021, ' Deciphering the premature mortality in PIGA-CDG : An untold story ', Epilepsy Research, vol. 170, 106530 . https://doi.org/10.1016/j.eplepsyres.2020.106530

مصطلحات موضوعية: Adult, 0301 basic medicine, Gastrointestinal bleeding, Pediatrics, medicine.medical_specialty, Adolescent, SUDEP, Cardiomyopathy, Early infantile epileptic encephalopathy, Glycosylphosphatidylinositol biosynthesis defects, Early cardiopulmonary death, Young Adult, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, SDG 3 - Good Health and Well-being, Seizures, Intellectual Disability, medicine, Humans, Global developmental delay, Sudden Unexpected Death in Epilepsy, Mortality, Cause of death, Mortality, Premature, business.industry, Mortality rate, Middle Aged, PIGA, medicine.disease, 030104 developmental biology, Neurology, Respiratory failure, Child, Preschool, Neurology (clinical), business, Congenital disorder of glycosylation, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1d29e0ebc64b20196691c1a2301cd72f
https://curis.ku.dk/portal/da/publications/deciphering-the-premature-mortality-in-pigacdg--an-untold-story(67426d3a-d0dc-4f01-ab9c-572604740f2b).html

المؤلفون: Henry Houlden, María José Sánchez-Soler, Anna Jansen, Renske Oegema, Pier G. Mastroberardino, Kalthoum Tlili-Graiess, Javad Akhondian, Katherine A. Fawcett, Marjon van Slegtenhorst, Lisbeth Turner, Chiara Milanese, Linda S. de Vries, Nadia Bahi-Buisson, Grazia M.S. Mancini, Rachel Schot, Stephanie A. Coury, Stephanie Efthymiou, Esra Börklü-Yücel, Abdulmalik A. Alwabel, Nebal Waill Saadi, Peter G. J. Nikkels, Daniela T. Pilz, Amy Crunk, Aida M. Bertoli-Avella, Ehsan Ghayoor Karimiani, Andrew E. Fry, Robert M. Verdijk, Johan M. Kros, Faisal Zafar, Juliann M. Savatt, Hülya Kayserili, Wen-Hann Tan, Reza Maroofian, Esmee Kasteleijn, Alexandra Afenjar, Marco Post, Daphne J. Smits, Maarten H. Lequin, Richard E. Person, Nuzhat Rana, Amal Al Hashem, Nataša Jovanov Milošević, Peter J. van der Spek, Farah Bibi, Boris Keren, Mohammad Doosti, Laura Vandervore, Stefanie Brock, Maarten Fornerod

المساهمون: Clinical Genetics, Molecular Genetics, Clinical Chemistry, Cell biology, Pathology, Clinical Biology, Faculty of Medicine and Pharmacy, Physiotherapy, Human Physiology and Anatomy, Pediatrics, Public Health Sciences, Mental Health and Wellbeing research group, Neurogenetics

المصدر: American Journal of Human Genetics, 105(6), 1126-1147. Cell Press
Am J Hum Genet

مصطلحات موضوعية: 0301 basic medicine, Male, Developmental Disabilities, Regulator, Brain / abnormalities, calnexin, epilepsy, hydrogen peroxide, microcephaly, mitochondria-associated membrane, PDI, polymicrogyria, redox, SERCA2, TMX2, Fibroblasts / metabolism, Transcriptome, Cohort Studies, 0302 clinical medicine, Thioredoxins, Developmental Disabilities / metabolism, Genetics(clinical), Skin / metabolism, Child, Genetics (clinical), Skin, Brain Diseases, biology, Chemistry, Mitochondria / metabolism, Brain, Prognosis, Membrane Proteins / metabolism, Brain Diseases / metabolism, Cell biology, Mitochondria, Thioredoxins / genetics, Developmental Disabilities / genetics, Child, Preschool, Protein folding, Female, Thioredoxin, Oxidation-Reduction, Adult, Brain Diseases / genetics, Fibroblasts / pathology, Protein Disulfide-Isomerase Family, Adolescent, Article, 03 medical and health sciences, Brain Diseases / pathology, Calnexin, Genetics, Humans, Developmental Disabilities / pathology, Thioredoxins / metabolism, Membrane Proteins / genetics, Skin / pathology, Endoplasmic reticulum, Infant, Newborn, Membrane Proteins, Infant, Fibroblasts, Mitochondria / pathology, 030104 developmental biology, Chaperone (protein), biology.protein, 030217 neurology & neurosurgery, Follow-Up Studies

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::718663da963cc3703f35cd8dc58dc977
https://urn.nsk.hr/urn:nbn:hr:105:093095

المؤلفون: Michelle Michels, Pieter A. Vriesendorp, Marjon van Slegtenhorst, Hannah G. van Velzen, Arend F.L. Schinkel, Rogier A. Oldenburg, Jolanda van der Velden

المساهمون: Cardiology, Clinical Genetics, Physiology, ICaR - Heartfailure and pulmonary arterial hypertension

المصدر: American Journal of Cardiology, 118(6), 881-887. Elsevier Inc.
van Velzen, H G, Vriesendorp, P A, Oldenburg, R A, van Slegtenhorst, M A, van der Velden, J, Schinkel, A F L & Michels, M 2016, ' Value of Genetic Testing for the Prediction of Long-Term Outcome in Patients With Hypertrophic Cardiomyopathy ', American Journal of Cardiology, vol. 118, no. 6, pp. 881-887 . https://doi.org/10.1016/j.amjcard.2016.06.038

مصطلحات موضوعية: Adult, 0301 basic medicine, medicine.medical_specialty, Myosin Light Chains, Genotype, Kaplan-Meier Estimate, 030204 cardiovascular system & hematology, Gene mutation, Sudden cardiac death, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Cause of Death, Internal medicine, medicine, Humans, Genetic Testing, Prospective Studies, Mortality, Aged, Proportional Hazards Models, Heart Failure, Myosin Heavy Chains, Proportional hazards model, business.industry, Hypertrophic cardiomyopathy, High-Throughput Nucleotide Sequencing, Sequence Analysis, DNA, Cardiomyopathy, Hypertrophic, Middle Aged, Prognosis, medicine.disease, Death, Sudden, Cardiac, 030104 developmental biology, Cardiovascular Diseases, Heart failure, Multivariate Analysis, Cardiology, Population study, Carrier Proteins, Cardiology and Cardiovascular Medicine, business, Cardiac Myosins, Cohort study

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d156f94d86f2feca9c702c1d316de4a
https://doi.org/10.1016/j.amjcard.2016.06.038