-
1
المؤلفون: Elsa Leitão, Christopher Schröder, Ilaria Parenti, Carine Dalle, Agnès Rastetter, Theresa Kühnel, Alma Kuechler, Sabine Kaya, Bénédicte Gérard, Elise Schaefer, Caroline Nava, Nathalie Drouot, Camille Engel, Juliette Piard, Bénédicte Duban-Bedu, Laurent Villard, Alexander P.A. Stegmann, Els K. Vanhoutte, Job A.J Verdonshot, Frank J. Kaiser, Frédéric Tran Mau-Them, Marcello Scala, Pasquale Striano, Suzanna G.M. Frints, Emanuela Argilli, Elliott H. Sherr, Fikret Elder, Julien Buratti, Boris Keren, Cyril Mignot, Delphine Héron, Jean-Louis Mandel, Jozef Gecz, Vera M. Kalscheuer, Bernhard Horsthemke, Amélie Piton, Christel Depienne
-
2
المؤلفون: Andrea Gazzin, Diana Carli, Federica Maria Valente, Suzanna G.M. Frints, Marielle Alders, Alessandro Mussa, Flavia Cerrato, Basilia Acurzio, Monica Franzese, Claudia Angelini, Giovanni Battista Ferrero, Laura Pignata, Andrea Freschi, Katherine L. Hill-Harfe, Andrea Riccio, Saskia M. Maas, Charles A. Williams, Fulvio Gabbarini, Jet Bliek, Angela Sparago
المساهمون: Valente, Federica Maria, Sparago, Angela, Freschi, Andrea, Hill-Harfe, Katherine, Maas, Saskia M., Frints, Suzanna Gerarda Maria, Alders, Marielle, Pignata, Laura, Franzese, Monica, Angelini, Claudia, Carli, Diana, Mussa, Alessandro, Gazzin, Andrea, Gabbarini, Fulvio, Acurzio, Basilia, Ferrero, Giovanni Battista, Bliek, Jet, Williams, Charles A., Riccio, Andrea, Cerrato, Flavia, Human Genetics, ARD - Amsterdam Reproduction and Development, ACS - Pulmonary hypertension & thrombosis, MUMC+: DA KG Bedrijfsbureau (9), Klinische Genetica, RS: FHML non-thematic output
المصدر: Genetics in medicine : official journal of the American College of Medical Genetics
Genetics in medicine 21 (2019): 1808–1820. doi:10.1038/s41436-018-0416-7
info:cnr-pdr/source/autori:Valente F.M.; Sparago A.; Freschi A.; Hill-Harfe K.; Maas S.M.; Frints S.G.M.; Alders M.; Pignata L.; Franzese M.; Angelini C.; Carli D.; Mussa A.; Gazzin A.; Gabbarini F.; Acurzio B.; Ferrero G.B.; Bliek J.; Williams C.A.; Riccio A.; Cerrato F./titolo:Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith-Wiedemann locus/doi:10.1038%2Fs41436-018-0416-7/rivista:Genetics in medicine/anno:2019/pagina_da:1808/pagina_a:1820/intervallo_pagine:1808–1820/volume:21
Genetics in medicine, 21(8), 1808-1820. Lippincott Williams and Wilkins
Genetics in Medicine, 21(8), 1808-1820. Nature Publishing Groupمصطلحات موضوعية: Male, Non-Mendelian inheritance, Beckwith-Wiedemann Syndrome, Beckwith–Wiedemann syndrome, Chromosomes, Human, Pair 11/genetics, Mice, COPY NUMBER VARIATIONS, imprinting disorders, Copy-number variation, Pair 11, Imprinting (psychology), Child, Genetics (clinical), Genetics, 0303 health sciences, DNA methylation, Beckwith-Wiedemann Syndrome/epidemiology, 030305 genetics & heredity, PREVALENCE, Pedigree, Child, Preschool, KCNQ1 Potassium Channel, Female, Maternal Inheritance, Maternal Inheritance/genetics, Haploinsufficiency, DNA Methylation/genetics, Human, Adult, Adolescent, Locus (genetics), LONG-QT SYNDROME, Biology, Pair 11/genetics, Article, Chromosomes, MECHANISMS, Introns/genetics, Genomic Imprinting, Young Adult, 03 medical and health sciences, long QT syndrome, medicine, CONTROL REGION, Animals, Humans, genomic imprinting, Chromosomes, Human, Pair 11, DNA Methylation, Infant, Introns, Preschool, 030304 developmental biology, imprinting disorder, Genomic Imprinting/genetics, MUTATIONS, DELETION, medicine.disease, GENE, RNA, Genomic imprinting, KCNQ1 Potassium Channel/genetics
-
3
المؤلفون: Kees E. P. van Roozendaal, Molka Kammoun, Michael Field, Andreas Dufke, Joris Vermeesch, Annick Toutain, Hao Hu, Theresa Mihalic Mosher, Joep P.M. Geraedts, Hans-Hilger Ropers, Peter White, Jan Liebelt, Sungjin Moon, Vera M. Kalscheuer, Joost Gribnau, Bas de Hoon, Germán Rodríguez Criado, Marie Shaw, Ute Grasshoff, Stefan A. Haas, Benjamin J. Kelly, Lynne Hobson, Marjan De Rademaeker, Christelle Golzio, Suzanna G.M. Frints, Olaf Riess, Claudia S. Bauer, Eric Haan, Nicholas Katsanis, Peter Bauer, Karen W. Gripp, Renee Carroll, Jozef Gecz, Jean Pierre Fryns, Cristina Gontan, Aysegul Ozanturk, Eveline Rentmeester, Martine Raynaud, Scott E. Hickey, Daniel C. Koboldt, Sylvie Manouvrier-Hanu, Lucinda Murray, Koen Devriendt, Christopher Schroeder, Kathryn Friend
المساهمون: Developmental Biology, Obstetrics & Gynecology, MUMC+: DA KG Bedrijfsbureau (9), RS: GROW - R4 - Reproductive and Perinatal Medicine, Klinische Genetica, MUMC+: DA KG Lab Centraal Lab (9), Maastricht University Medical Centre (MUMC), Maastricht University [Maastricht], Duke University [Durham], Hospital Universitario Virgen del Rocío [Sevilla], University of Tübingen, Erasmus University Medical Center [Rotterdam] (Erasmus MC), Hunter Genetics, Clinique de Génétique médicale Guy Fontaine [CHRU LIlle], Hôpital Jeanne de Flandres, Université de Lille, Droit et Santé-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Maladies RAres du DEveloppement embryonnaire et du MEtabolisme : du Phénotype au Génotype et à la Fonction - ULR 7364 (RADEME), Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Nationwide Children's Hospital, Ohio State University [Columbus] (OSU), University Hospitals Leuven [Leuven], Nemours/Alfred I. du Pont Hospital for Children, Hôpital Bretonneau, Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Imagerie et cerveau (iBrain - Inserm U1253 - UNIV Tours ), Université de Tours (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Max Planck Institute for Molecular Genetics (MPIMG), Max-Planck-Gesellschaft, University of Adelaide, Women’s and Children’s Hospital [Adelaide], SA Pathology [Adelaide, SA, Australia], Vrije Universiteit Brussel (VUB), South Australian Health and Medical Research Institute [ Adelaide] (SAHMRI), Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), univOAK, Archive ouverte, Reproduction and Genetics, Clinical sciences, Medical Genetics
المصدر: Molecular Psychiatry, 24(11), 1748-1768. Nature Publishing Group
Molecular Psychiatry
Mol Psychiatry
Mol Psychiatry, 2019, 24 (11), pp.1748-1768. ⟨10.1038/s41380-018-0065-x⟩مصطلحات موضوعية: Male, 0301 basic medicine, X-linked intellectual disability, PROTEIN, [SDV.GEN] Life Sciences [q-bio]/Genetics, FUNCTIONAL-ACTIVITY, Mice, 0302 clinical medicine, Genes, X-Linked, X Chromosome Inactivation, RNF12, Missense mutation, TRANSCRIPTION, Child, Zebrafish, Genetics, Middle Aged, Phenotype, Pedigree, Ubiquitin ligase, Psychiatry and Mental health, medicine.anatomical_structure, Child, Preschool, Female, Adult, Conduct Disorder, Adolescent, Ubiquitin-Protein Ligases, NPAS3, Biology, 03 medical and health sciences, Cellular and Molecular Neuroscience, Intellectual Disability, medicine, Ring finger, Animals, Humans, Molecular Biology, Transcription factor, RLIM, [SDV.GEN]Life Sciences [q-bio]/Genetics, CHROMOSOME INACTIVATION, MUTATIONS, Infant, Newborn, Ubiquitination, Wild type, Zebrafish Proteins, medicine.disease, biology.organism_classification, HEK293 Cells, 030104 developmental biology, Mutation, Mental Retardation, X-Linked, biology.protein, LIM COFACTORS, 030217 neurology & neurosurgery, Transcription Factors, GENE UBE2A CAUSE
وصف الملف: application/pdf
-
4
المؤلفون: Mala Misra-lsrie, Erik-Jan Kamsteeg, Maartje Pennings, Nicole I. Wolf, Bart P.C. van de Warrenburg, Suzanna G.M. Frints, Susanne T. de Bot, Corien C. Verschuuren-Bemelmans, Michèl A.A.P. Willemsen, Jolanda H. Schieving, Judith van Gaalen, Eva H. Brilstra, Laura A. van de Pol
المساهمون: Pediatric surgery, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Amsterdam Reproduction & Development (AR&D), Academic Medical Center, MUMC+: DA KG Bedrijfsbureau (9), RS: GROW - R4 - Reproductive and Perinatal Medicine, Klinische Genetica
المصدر: Brain, 142, 7, pp. e31
Brain, 142(7). Oxford University Press
Brain, 142, e31
Schieving, J H, de Bot, S T, van de Pol, L A, Wolf, N I, Brilstra, E H, Frints, S G, van Gaalen, J, Misra-Isrie, M, Pennings, M, Verschuuren-Bemelmans, C C, Kamsteeg, E-J, van de Warrenburg, B P & Willemsen, M A 2019, ' De novo SPAST mutations may cause a complex SPG4 phenotype ', Brain, vol. 142, no. 7, pp. e31 . https://doi.org/10.1093/brain/awz140
Brain, 142(7):e31. Oxford University Press
Brain, 142مصطلحات موضوعية: Spastin, SOMATIC MOSAICISM, PROTEIN, CHILDREN, FREQUENT, medicine.disease_cause, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], ATL1, medicine, Humans, Paraplegia, Genetics, Mutation, SPECTRUM, business.industry, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], SERIES, Phenotype, Somatic mosaicism, PARAPLEGIA CLINICAL-FEATURES, ONSET, Neurology (clinical), business, AUTOSOMAL-DOMINANT
وصف الملف: application/pdf
-
5
المؤلفون: Ilse Feenstra, Marieke F. van Dooren, Marie José H. Van Den Boogaard, Rolph Pfundt, Stefan H. Lelieveld, Celia Zazo Seco, Henricus P. M. Kunst, Ilse J. de Wijs, Christian Gilissen, Saskia M. Maas, Arjan C. Houweling, Saskia Tamminga, Astrid S Plomp, Steven Castelein, Helger G. Yntema, Margit Schraders, Els K. Vanhoutte, Ronald J.C. Admiraal, Sarina G. Kant, Suzanna G.M. Frints, Hans Scheffer, Christa M. De Geus, Pia A. M. de Koning Gans, Jiddeke M. van de Kamp, Jayne Y. Hehir-Kwa, Ronald J.E. Pennings, Mieke Wesdorp, Hannie Kremer, Marcel R. Nelen, Lies H. Hoefsloot
المساهمون: Human genetics, AGEM - Endocrinology, metabolism and nutrition, AGEM - Inborn errors of metabolism, Amsterdam Neuroscience - Complex Trait Genetics, APH - Quality of Care, ACS - Atherosclerosis & ischemic syndromes, Clinical Genetics, MUMC+: DA KG Bedrijfsbureau (9), RS: GROW - R4 - Reproductive and Perinatal Medicine, Klinische Genetica, MUMC+: DA KG Polikliniek (9), Human Genetics, Paediatric Genetics
المصدر: European Journal of Human Genetics, 25(3), 308-314. Nature Publishing Group
European Journal of Human Genetics, 25, 308-314
European Journal of Human Genetics, 25, 3, pp. 308-314
European Journal of Human Genetics, 25(3), 308. Nature Publishing Group
European journal of human genetics, 25(3), 308-314. Nature Publishing Group
Seco, C Z, Wesdorp, M, Feenstra, I, Pfundt, R, Hehir-Kwa, J Y, Lelieveld, S H, Castelein, S, Gilissen, C, De Wijs, I J, Admiraal, R J C, Pennings, R J E, Kunst, H P M, Van De Kamp, J M, Tamminga, S, Houweling, A C, Plomp, A S, Maas, S M, De Koning Gans, P A M, Kant, S G, De Geus, C M, Frints, S G M, Vanhoutte, E K, Van Dooren, M F, Van Den Boogaard, M J H, Scheffer, H, Nelen, M, Kremer, H, Hoefsloot, L, Schraders, M & Yntema, H G 2017, ' The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in the Netherlands ', European Journal of Human Genetics, vol. 25, no. 3, pp. 308-314 . https://doi.org/10.1038/ejhg.2016.182مصطلحات موضوعية: 0301 basic medicine, MYO15A, 030105 genetics & heredity, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Connexins, Exome, Copy-number variation, MUTATION, Genetics (clinical), Exome sequencing, Netherlands, Genetics, COPY NUMBER VARIANTS, Extracellular Matrix Proteins, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], EAR, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Connexin 26, Intercellular Signaling Peptides and Proteins, Neurodevelopmental disorders Radboud Institute for Molecular Life Sciences [Radboudumc 7], DEAFNESS, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], STRC, medicine.medical_specialty, DNA Copy Number Variations, OTOGELIN, Genetic counseling, Biology, Myosins, GPI-Linked Proteins, FREQUENCY, Article, 03 medical and health sciences, Molecular genetics, Journal Article, medicine, Humans, Genetic Testing, Sensory disorders Radboud Institute for Molecular Life Sciences [Radboudumc 12], Hearing Loss, SPECTRUM, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Myosin Heavy Chains, IDENTIFICATION, Genetic heterogeneity, Other Research Radboud Institute for Health Sciences [Radboudumc 0], Membrane Proteins, Sequence Analysis, DNA, 030104 developmental biology
وصف الملف: application/pdf; image/pdf
-
6
المؤلفون: Merryn V. E. Macville, David Hunt, Richard Webster, Suzanna G.M. Frints, Alberto Fernández-Jaén, Shelagh Joss, Andrew G. L. Douglas, Margje Sinnema, Lesley M McGregor, Vera M. Kalscheuer, Abhijit Dixit, Paulien A. Terhal, Arthur Lee, Sébastien Jacquemont, Omar A. Abdul-Rahman, Peter Wieacker, Koen L.I. van Gassen, Norbert Utzig, Marcus Lee, Vanessa Suckow, Gunnar Houge, Danita Velasco, Cheryl Longman, Holly H. Zimmerman, Elizabeth C. Engle, Bryce A. Mendelsohn, Salwan Al-Nasiry, Suzanne M. Koudijs, Saskia M. Maas, Diana Baralle, Hiromi Hirata, Kees E. P. van Roozendaal, Servi J. C. Stevens, Raoul C.M. Hennekam, Roberto Colombo, Ulrike Kordaß, Gyri Aasland Gradek, Friederike Hennig
المساهمون: APH - Quality of Care, Human Genetics, Amsterdam Neuroscience - Complex Trait Genetics, MUMC+: DA KG Bedrijfsbureau (9), Klinische Genetica, MUMC+: DA KG Polikliniek (9), MUMC+: DA KG Lab Centraal Lab (9), Obstetrie & Gynaecologie, MUMC+: MA Medische Staf Obstetrie Gynaecologie (9), RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: MA Med Staf Spec Neurologie (9)
المصدر: Human Mutation, 40(12), 2270-2285. Wiley-Liss Inc.
Human mutation, 40(12), 2270-2285. Wiley-Liss Inc.
Human Mutation
Human Mutation, 40(12), 2270-2285. Wiley
Human Mutation, 40(12), 2270. Wiley-Liss Inc.
Hum Mutatمصطلحات موضوعية: Male, INTELLECTUAL DISABILITY, Enfermedad del sistema nervioso, CONTRACTURES, Pie zambo, Genes, X-Linked, Missense mutation, Genetics(clinical), Frameshift Mutation, EXCHANGE, Zebrafish, Genetics (clinical), Sequence Deletion, media_common, Arthrogryposis, Genetics, Sex Characteristics, Paraplejía, medicine.diagnostic_test, 2 microdeletion, Intracellular Signaling Peptides and Proteins, complicated spastic paraplegia/ spasticity, METHYLATION, Espasticidad muscular, Nuclear Proteins, spasticity, Phenotype, Pedigree, Codon, Nonsense, akinesia, Female, Neurogenic arthrogryposis multiplex congenita, media_common.quotation_subject, fetal hypo, Nonsense, Mutation, Missense, Biology, DIAGNOSIS, Article, Frameshift mutation, medicine, Animals, Humans, Genetic Predisposition to Disease, Gene, Genetic testing, ZC4H2-Associated Rare Disorders (ZARD), SPECTRUM, Arthrogryposis multiplex congenita, MUTATIONS, fetal hypo-/akinesia, feet, club foot/-feet, ZC4H2, GENE, Genética, DELETIONS, Disease Models, Animal, complicated spastic paraplegia, Mutation, Xq11.2 microdeletion, Xq11, MENTAL-RETARDATION, club foot
وصف الملف: image/pdf; application/pdf; text/plain; text
-
7
المؤلفون: A. Coumans, Suzanna G.M. Frints, C.E.M. de Die-Smulders, Luc J.M. Smits, Joris A. Veltman, Elke Mersy, G. de Wert
المساهمون: Klinische Genetica, Epidemiologie, Metamedica, Genetica & Celbiologie, Gynaecologie en Obstetrie, RS: CAPHRI School for Public Health and Primary Care, RS: CAPHRI - R5 - Optimising Patient Care, RS: CAPHRI - R6 - Promoting Health & Personalised Care, RS: GROW - Developmental Biology, RS: GROW - R4 - Reproductive and Perinatal Medicine
المصدر: Public Health Genomics, 18, 260-71
Public Health Genomics, 18, 5, pp. 260-71
Public Health Genomics, 18(5), 260-271. Kargerمصطلحات موضوعية: Down syndrome, medicine.medical_specialty, Unnecessary Procedures, Sensitivity and Specificity, Pregnancy, Risk Factors, Prenatal Diagnosis, medicine, Humans, Genetics (clinical), Down syndrome screening, Spontaneous miscarriage, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], medicine.diagnostic_test, business.industry, Obstetrics, Health Policy, Non invasive, Decision Trees, Public Health, Environmental and Occupational Health, medicine.disease, Abortion, Spontaneous, Pregnancy Trimester, First, Early Diagnosis, Combined test, Amniocentesis, Female, Down Syndrome, FIRST screening test, business
-
8
المؤلفون: Eléonore Tollard, Christel Depienne, Carola G.M. van Berkel, Graziella Uziel, Céline Dupuits, Maarten Kamermans, Truus E.M. Abbink, Suzanna G.M. Frints, Nienke L. Postma, Alexis Brice, Adeline Vanderver, Christine E. M. de Die-Smulders, Emiel Polder, Marjo S. van der Knaap, Nicole I. Wolf, Frédéric Sedel, Marianna Bugiani, Damien Galanaud, J. S. H. Vles, Vera M. Kalscheuer, Valerie Touitou, Jan Klooster, Frédéric Darios, Cengiz Yalcinkaya
المساهمون: Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière (CRICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (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)-Sorbonne Université (SU), Pathology Department, VU University Medical Center [Amsterdam], Child Neurology Department, Fondazione IRCCS Istituto Neurologico, Service de Neuroradiologie [CHU Pitié-Salpêtrière], Neurologie, Université Pierre et Marie Curie - Paris 6 (UPMC), Service de Radiologie [CHU Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU), Department of Clinical Genetics [Maastricht], Maastricht University Medical Centre (MUMC), Maastricht University [Maastricht]-Maastricht University [Maastricht], Department of Child Neurology [Maastricht], Department of Neurology, Children's National Medical Center, Unit of Child Neurology, Fondazione IRCCS Istituto Neurologico 'Carlo Besta', Division of Child Neurology, Istanbul University -Cerrahpasa Medical School, Department Human Molecular Genetics [MPIMG Berlin], Max Planck Institute for Molecular Genetics (MPIMG), Max-Planck-Gesellschaft-Max-Planck-Gesellschaft, Department of Retinal Signal Processing, Netherlands Institute for Neuroscience-KNAW, Department of Neurogenetics, Academic Medical Center - Academisch Medisch Centrum [Amsterdam] (AMC), University of Amsterdam [Amsterdam] (UvA)-University of Amsterdam [Amsterdam] (UvA), ELA, APHP, INSERM, Pathology, Pediatric surgery, NCA - Brain mechanisms in health and disease, Cerrahpasa Medical School-Istanbul University, Klinische Neurowetenschappen, MUMC+: MA Med Staf Spec Neurologie (9), Genetica & Celbiologie, RS: MHeNs School for Mental Health and Neuroscience, RS: GROW - School for Oncology and Reproduction, Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université, UF Neurométabolique Bioclinique et Génétique [CHU Pitié-Salpêtrière], Algorithms, models and methods for images and signals of the human brain (ARAMIS), Inria Paris-Rocquencourt, Institut National de Recherche en Informatique et en Automatique (Inria)-Institut National de Recherche en Informatique et en Automatique (Inria)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Centre National de la Recherche Scientifique (CNRS), Service d'ophtalmologie [CHU Pitié-Salpêtrière], Maastricht University [Maastricht], Cerrahpasa Faculty of Medicine, Istanbul University, Netherlands Institute for Neuroscience (NIN), Royal Netherlands Academy of Arts and Sciences (KNAW), University of Amsterdam [Amsterdam] (UvA), Service de neurologie 1 [CHU Pitié-Salpétrière], Neuroscience Campus Amsterdam - Brain Mechanisms in Health & Disease, Depienne, Christel, Other departments, ANS - Amsterdam Neuroscience, Genome Analysis
المصدر: The Lancet Neurology
The Lancet Neurology, Elsevier, 2013, 12 (7), pp.659-68. ⟨10.1016/S1474-4422(13)70053-X⟩
Depienne, C, Bugiani, M, Dupuits, C, Galanaud, D, Touitou, V, Postma, N L, van Berkel, C G M, Polder, E, Tollard, E, Darios, F, Brice, A, de Die-Smulders, C E, Vles, J S, Vanderver, A, Uziel, G, Yalcinkaya, C, Frints, S G, Kalscheuer, V M, Klooster, J, Kamermans, M, Abbink, G E M, Wolf, N I, Sedel, F & van der Knaap, M S 2013, ' Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study ', Lancet Neurology, vol. 12, no. 7, pp. 659-668 . https://doi.org/10.1016/S1474-4422(13)70053-X
Lancet Neurology
Lancet Neurology, 12(7), 659-668. Lancet Publishing Group
The Lancet Neurology, 2013, 12 (7), pp.659-68. ⟨10.1016/S1474-4422(13)70053-X⟩
Lancet Neurology, 12(7), 659-668. Elsevier Science
The Lancet Neurology, Elsevier, 2013, 12 (7), pp.659-668. ⟨10.1016/S1474-4422(13)70053-X⟩
The Lancet Neurology; Vol 12
Lancet Neurology, 12, 659-668. Lancet Publishing Group
Lancet neurology, 12(7), 659-668. Lancet Publishing Groupمصطلحات موضوعية: Male, Pathology, Candidate gene, Brain Edema, [SDV.GEN] Life Sciences [q-bio]/Genetics, Polymerase Chain Reaction, Leukoencephalopathy, 0302 clinical medicine, [INFO.INFO-TS]Computer Science [cs]/Signal and Image Processing, Leukoencephalopathies, Image Processing, Computer-Assisted, Exome, Age of Onset, 10. No inequality, Child, Exome sequencing, Myelin Sheath, media_common, Neurologic Examination, 0303 health sciences, education.field_of_study, biology, Homozygote, Brain, Genetic Diseases, X-Linked, SDG 10 - Reduced Inequalities, Middle Aged, Immunohistochemistry, Magnetic Resonance Imaging, 3. Good health, medicine.anatomical_structure, Connexin 32, Female, medicine.symptom, [SPI.SIGNAL]Engineering Sciences [physics]/Signal and Image processing, Signal Transduction, Adult, medicine.medical_specialty, Adolescent, Cerebellar Ataxia, White matter, 03 medical and health sciences, SDG 3 - Good Health and Well-being, Chloride Channels, medicine, media_common.cataloged_instance, Humans, RNA, Messenger, European union, education, 030304 developmental biology, Aged, CLCN2, [SDV.GEN]Life Sciences [q-bio]/Genetics, Cerebellar ataxia, Fibroblasts, medicine.disease, CLC-2 Chloride Channels, biology.protein, Neurology (clinical), 030217 neurology & neurosurgery
وصف الملف: application/pdf
-
9
المؤلفون: A. Coumans, Luc J.M. Smits, C. E. M. De Die-Smulders, Aimee D C Paulussen, Merryn V. E. Macville, L.A.A.P. van Winden, Suzanna G.M. Frints, Elke Mersy
المساهمون: RS: CAPHRI School for Public Health and Primary Care, RS: GROW - School for Oncology and Reproduction, Promovendi ODB, Genetica & Celbiologie, Epidemiologie, MUMC+: DA KG Polikliniek (9), Klinische Genetica, MUMC+: DA KG Lab Centraal Lab (9), MUMC+: DA Pat Cytologie (9), Obstetrie & Gynaecologie
المصدر: Human Reproduction Update, 19(4), 318-329. Oxford University Press
مصطلحات موضوعية: medicine.medical_specialty, Down syndrome, Pregnancy, High-Risk, cell-free fetal DNA, Prenatal diagnosis, noninvasive prenatal testing, QUADAS-2, Pregnancy, Prenatal Diagnosis, Nuchal Translucency Measurement, Humans, Medicine, Prospective Studies, business.industry, Obstetrics, Obstetrics and Gynecology, medicine.disease, Confidence interval, trisomy 21, Pregnancy Trimester, First, Reproductive Medicine, Cell-free fetal DNA, RNA, Female, Down Syndrome, business, Trisomy, Cohort study
-
10
المؤلفون: David Cheillan, Stella De Man, Suzanna G.M. Frints, Antonia Ribes Rubio, HATEM AZZOUZ, Klary E Niezen-Koning, Efraim Rosenberg, Carla Valongo, Sarina Kant, KATRIN OUNAP
المساهمون: Center for Liver, Digestive and Metabolic Diseases (CLDM), Laboratory Medicine, Human genetics, NCA - Childhood White Matter Diseases, RS: GROW - R4 - Reproductive and Perinatal Medicine, Klinische Genetica, MUMC+: DA KG Polikliniek (9)
المصدر: Molecular Genetics and Metabolism, 105(4), 596-601. ACADEMIC PRESS INC ELSEVIER SCIENCE
Molecular Genetics and Metabolism, 105(4), 596-601. Academic Press Inc.
Molecular Genetics and Metabolism, 105, 596-601
Betsalel, O T, Pop, A, Rosenberg, E H, Fernandez-Ojeda, M, Jakobs, C A J M & Salomons, G S 2012, ' Detection of variants in SLC6A8 and functional analysis of unclassified missense variants ', Molecular Genetics and Metabolism, vol. 105, no. 4, pp. 596-601 . https://doi.org/10.1016/j.ymgme.2011.12.022
Molecular Genetics and Metabolism, 105, 4, pp. 596-601مصطلحات موضوعية: Male, Endocrinology, Diabetes and Metabolism, DNA Mutational Analysis, medicine.disease_cause, Biochemistry, Plasma Membrane Neurotransmitter Transport Proteins, chemistry.chemical_compound, Endocrinology, Missense variants, Mental Retardation, Missense mutation, Site-Directed, Cells, Cultured, Genetics, Mutation, Cultured, Blotting, Real-time polymerase chain reaction, Female, Western, Heterozygote, Cells, Blotting, Western, Mutation, Missense, Mutagenesis (molecular biology technique), Nerve Tissue Proteins, Biology, SLC6A8, Creatine, Real-Time Polymerase Chain Reaction, LOVD, Genomic disorders and inherited multi-system disorders [IGMD 3], DHPLC, medicine, Humans, Glycostation disorders [DCN PAC - Perception action and control IGMD 4], Molecular Biology, Gene, DCN NN - Brain networks and neuronal communication, Heterozygote advantage, Glycostation disorders [IGMD 4], X-Linked, Fibroblasts, Genetics and epigenetic pathways of disease DCN MP - Plasticity and memory [NCMLS 6], chemistry, Mutagenesis, Mental Retardation, X-Linked, Mutagenesis, Site-Directed, Missense, Creatine transporter
-
11
المؤلفون: Merryn V. E. Macville, F. H. M. van Lint, P. C. Krapels, Antonio W. D. Gavilanes, J. W. Weber, John J.M. Engelen, Alexander P.A. Stegmann, Suzanna G.M. Frints, Ctrm Schrander-Stumpel, Christine Willekes, Yvonne J. Vos, Jaap A. Bakker, Judith M.A. Verhagen, C. E. M. De Die-Smulders
المساهمون: Klinische Genetica, Obstetrie & Gynaecologie, Klinische Neurowetenschappen, Kindergeneeskunde, Genetica & Celbiologie, RS: MHeNs School for Mental Health and Neuroscience, RS: GROW - School for Oncology and Reproduction, Clinical Genetics, Cardiothoracic Surgery
المصدر: European Journal of Medical Genetics, 54(6), E542-E547. Elsevier
European journal of medical genetics, 54(6), E542-E547. ELSEVIER SCIENCE BV
European Journal of Medical Genetics, 54(6), e542-e547. Elsevier Massonمصطلحات موضوعية: Male, Candidate gene, Pediatrics, Etiology, Gene Dosage, Chromosome Disorders, CHILDREN, Severity of Illness Index, Congenital hydrocephalus, MALFORMATION, Congenital, SWEDEN, Epidemiology, EPIDEMIOLOGY, Connective Tissue Diseases, MUTATION, Genetics (clinical), Netherlands, ORIGIN, Walker-Warburg Syndrome, INFANTILE HYDROCEPHALUS, General Medicine, Phenotype, Child, Preschool, Medical genetics, Female, Hydrocephalus, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Contracture, DNA Copy Number Variations, Neural Cell Adhesion Molecule L1, Blepharophimosis, Polymorphism, Single Nucleotide, CLASSIFICATION, Genetic, CILIA, VACTERL, Genetics, medicine, Humans, Abnormalities, Multiple, L1 syndrome, Retrospective Studies, Chromosome Aberrations, business.industry, Infant, medicine.disease, nervous system diseases, Hemifacial microsomia, Arachnodactyly, Karyotyping, L1CAM, business
-
12
المؤلفون: Guido de Wert, Suzanna G.M. Frints, Christine E. M. de Die-Smulders, Antina de Jong, Wybo Dondorp
المساهمون: Metamedica, Genetica & Celbiologie, RS: CAPHRI School for Public Health and Primary Care, RS: GROW - School for Oncology and Reproduction
المصدر: Nature Reviews Genetics, 12(9), 657-663. Nature Publishing Group
مصطلحات موضوعية: Equity (economics), medicine.diagnostic_test, media_common.quotation_subject, Prenatal diagnosis, Biology, Developmental psychology, Prenatal screening, Genetics, medicine, Molecular Biology, Genetics (clinical), Autonomy, Genetic testing, media_common
وصف الملف: application/pdf
-
13
المؤلفون: Tina O. Sulistio, Charles E. Schwartz, Hans-Hilger Ropers, Suzanna G.M. Frints, Ute Fischer, Francisco Martínez, Vera M. Kalscheuer, Corrado Romano, Stella Amrei Kunde, Luciana Musante, Astrid Grimme
المساهمون: Genetica & Celbiologie, RS: GROW - School for Oncology and Reproduction
المصدر: Human Mutation, 31(1), 90-98. Wiley
مصطلحات موضوعية: Gene isoform, RNA Stability, Mutant, Nonsense-mediated decay, Biology, Cell Line, Exon, splicing, Genetics, Humans, NMD, XLMR, Lymphocytes, RNA, Messenger, Gene, Genetics (clinical), Messenger RNA, PQBP1, Reverse Transcriptase Polymerase Chain Reaction, Nuclear Proteins, Exons, Fibroblasts, Molecular biology, Phenotype, DNA-Binding Proteins, PTC, NAS, Codon, Nonsense, Mutation, RNA splicing, Mental Retardation, X-Linked, Carrier Proteins
-
14
المؤلفون: Bregje W.M. van Bon, Tiia Reimand, Berten Ceulemans, Barbara Delle Chiaie, Christine Oley, Anne Destree, Ernie M.H.F. Bongers, Danielle Martinet, Dom McMullan, Rolph Pfund, Bert B.A. de Vries, Jenneke van den Ende, Louise Brueton, Connie Schrander-Stumpel, Corrado Romano, Marco Fichera, Alexander P.A. Stegmann, Edwin Reyniers, Geert Mortier, Suzanna G.M. Frints, Isabelle Maystadt, Katrin Männik, Nathalie Van der Aa, Ants Kurg, Geert Vandeweyer, Björn Menten, Alessandra Ferrarini, R. Frank Kooy, Sébastien Jacquemont, Liesbeth Rooms
المصدر: European Journal of Medical Genetics, 52, 2-3, pp. 94-100
European journal of medical genetics
European Journal of Medical Genetics, 52, 94-100مصطلحات موضوعية: Male, Williams Syndrome, congenital, hereditary, and neonatal diseases and abnormalities, Pediatrics, medicine.medical_specialty, Language delay, Population, Chromosome Disorders, Speech Disorders, Genomic disorders and inherited multi-system disorders [IGMD 3], Communication disorder, Intellectual Disability, Gene duplication, Genetics, medicine, Humans, Abnormalities, Multiple, Diaphragmatic hernia, Child, education, Genetics (clinical), Family Health, education.field_of_study, business.industry, Infant, Syndrome, General Medicine, medicine.disease, Hypotonia, Phenotype, Child, Preschool, Face, Speech delay, Autism, Female, Human medicine, Chromosome Deletion, medicine.symptom, business, Chromosomes, Human, Pair 7
وصف الملف: application/pdf
-
15
المؤلفون: Karen Hollanders, Guido Froyen, Koenraad Devriendt, Jean-Pierre Fryns, Marijke Bauters, Peter Marynen, Suzanna G.M. Frints, Joris Vermeesch, Hilde Van Esch
المصدر: Human Mutation. 28:1034-1042
مصطلحات موضوعية: Male, Proband, Adolescent, Genotype, Genetic Linkage, Gene Dosage, CDKL5, Biology, Gene dosage, MECP2, Genetic linkage, Intellectual Disability, Gene duplication, Genetics, Humans, CASK, Child, Genetics (clinical), X chromosome, Chromosomes, Human, X, Genome, Nucleic Acid Hybridization, Molecular biology, Phenotype, Child, Preschool, Female, Gene Deletion
-
16
المؤلفون: Colin D. Ferrie, Johannes S H Vles, Cyril Goizet, Dominique Roland, Alec Aeby, Simon Attard Montalto, Bruce E. Hayward, Yanick J. Crow, Pierre Landrieu, Yong-hui Jiang, Stavit A. Shalev, John P McClure, Willam S Benko, Carlos A. Bacino, Kevin Rostasy, Pam Tomlin, John Dean, Andrew P. Jackson, Catherine Dery, Helen Cox, Peter Corry, John Tolmie, Daniel R. Carvalho, Sameer M. Zuberi, Sunita Seal, Bruno Barroso, Federica Vagnarelli, Margo L. Whiteford, Sally Ann Lynch, Giovanni Lanzi, Hans-Jurgen Christen, Enrico Bertini, Suzanna G.M. Frints, Gyan P Sinha, Bernhard Weschke, Amy Kao, Ken K. Nischal, Kate Chandler, Raphael Schiffmann, Ben C.J. Hamel, Simona Orcesi, Andrew Green, Blanca Gener, Pierre Lebon, Daphna Marom, R. Curtis Rogers, Gillian I. Rice, Ian M. Carr, Agnes Guet, C Sierra Corcoles, Raoul C.M. Hennekam, Sabine Scholl-Bürgi, Teresa Patrick, Claire F Taylor, Dieter Kotzot, Mary D. King, Evangeline Wassmer, Claudine De Praeter, Nathalie Van der Aa, Christopher J. Burke, Edward Blair, Wilfried Kratzer, Han G. Brunner, Marianne Till, Marie-Laure Moutard, Lieven Lagae, Adeline Vanderver, Frances M. Cowan, Andrea Leitch, Julie S. Prendiville, Didier Lacombe, Michèl A.A.P. Willemsen, E G Hermione Lyall, Thomas Voit, Rekha Parmar, John R. Østergaard, Tracy A Briggs, John H. Livingston, Doriette Soler, Andrew J. Kornberg, Marie Husson, Marjo S. van der Knaap, Francoise Goutieres, Enza Maria Valente, Arvid Heiberg, Helen Kingston, John B.P. Stephenson, Joerg Klepper, Serge B. Melançon, Peter Baxter, Amparo Sanchis, Louise Brueton, Andreas Zankl, Elisa Fazzi, Rasieka Jayatunga, David T. Bonthron, Michael J. Lyons, Stefano D'Arrigo, Uta Tacke, Elisabeth Rosser, Carsten Bergmann, Agathe Roubertie, Kim Flintoff, Ronen Spiegel, Rudy Van Coster, Roberta Biancheri, Tiong Yang Tan, Corinne De Laet, Jean Aicardi, Sarina G. Kant, Magnhild Rasmussen, Robert McWilliam, Charles Marques Lourenço, Leena D Mewasingh, Angels García-Cazorla, Rafael Artuch, Nenad Blau, Ming K. Lim
المساهمون: ANS - Amsterdam Neuroscience, APH - Amsterdam Public Health, Paediatric Genetics, Pediatric surgery, Leeds Institute of Molecular Medicine, St. James's University Hospital, Mutation Detection Facility, Leeds General Infirmary, Erasme Hospital, Children's Hospital Queen Fabiola, Hôpital Trousseau, Hôpital Bicêtre, Groupe Hospitalier Pitié-Salpêtrière, Hôpital Cochin-St. Vincent de Paul, Hospital Sant Joan de Déu-Ciberer, St. Luke's Hospital, Baylor College of Medicine, Centre Hospitalier, Children's Hospital, National Institutes of Health, RWTH Aachen University, Bambino Gesù Children's Research Hospital, Mendel Institute, G. Gaslini Institute, Churchill Hospital, University Children's Hospital, Birmingham Women's Hospital, Sandwell and West Birmingham NHS Trust, Birmingham Children's Hospital, Radboud University, Royal Children's Hospital, Universidade Estadual Paulista (Unesp), St. Mary's Hospital, Kinderkrankenhaus Auf der Bult, Bradford National Health Service (NHS) Trust, Fondazione Istituto Neurologico C. Besta, Grampian Clinical Genetics Centre, University Hospital, Maastricht University Hospital, Great Ormond Street Hospital, Guy's and St. Thomas' NHS Trust, Université Laval Medical School, Hospital de Cruces, Centre Hospitalier Universitaire Pellegrin Enfants, Our Lady's Hospital, Children's University Hospital, Rikshospitalet-Radiumhospitalet, Academic Medical Center, Vrije Universiteit Medical Center, Western General Hospital, Leiden University Medical Center, Oregon Health and Science University, Klinikum Aschaffenburg, Medical University Innsbruck, Children's Hospital Innsbruck, Klinik für Kinder und Jugendliche, University Hospitals of Gasthuisberg, IRCCS Casimiro Mondino Institute of Neurology, Universidade de São Paulo (USP), Greenwood Genetic Center, Rabin Medical Center, Crosshouse Hospital, Royal Hospital for Sick Children, Montreal Children's Hospital, University Hospitals of Leicester NHS Trust, University Hospital of Aarhus, British Columbia's Children's Hospital, Institut de Pathologie et de Génétique, Guide Chauliac Hospital, Hospital Universitario Doctor Peset, Ha'Emek Medical Center, Technion, Complejo Hospitalario de Jean, Manor Hospital, Hôpital Debrousse, Lancashire Teaching Hospitals Trust, Arcispedale Santa Maria Nuova, Center for Medical Genetics, Children's National Medical Center, Humboldt University, Wellcome Trust Brenner Building
المصدر: American journal of human genetics, 81(4), 713-725. Cell Press
Scopus
Repositório Institucional da UNESP
Universidade Estadual Paulista (UNESP)
instacron:UNESP
American Journal of Human Genetics, 81, 713-25
Rice, G, Patrick, T, Parmar, R, Taylor, C F, Aeby, A, Aicardi, J, Artuch, R, Montalto, S A, Bacino, C A, Barroso, B, Baxter, P, Benko, W S, Bergmann, C, Bertini, E, Biancheri, R, Blair, E M, Blau, N, Bonthron, D T, Briggs, T, Brueton, L A, Brunner, H G, Burke, C J, Carr, I M, Carvalho, D R, Chandler, K E, Christen, H-J, Corry, P C, Cowan, F M, Cox, H, D'Arrigo, S, Dean, J, De Laet, C, De Praeter, C, Dery, C, Ferrie, C D, Flintoff, K, Frints, S G M, Garcia-Cazorla, A, Gener, B, Goizet, C, Goutieres, F, Green, A J, Guet, A, Hamel, B C J, Hayward, B E, Heiberg, A, Hennekam, R C, Husson, M, Jackson, A P, Jayatunga, R, Jiang, Y-H, Kant, S G, Kao, A, King, M D, Kingston, H M, Klepper, J, van der Knaap, M S, Kornberg, A J, Kotzot, D, Kratzer, W, Lacombe, D, Lagae, L, Landrieu, P G, Lanzi, G, Leitch, A, Lim, M J, Livingston, J H, Lourenco, C M, Lyall, E G H, Lynch, S A, Lyons, M J, Marom, D, McClure, J P, McWilliam, R, Melancon, S B, Mewasingh, L D, Moutard, M-L, Nischal, K K, Ostergaard, J R, Prendiville, J, Rasmussen, M, Rogers, R C, Roland, D, Rosser, E M, Rostasy, K, Roubertie, A, Sanchis, A, Schiffmann, R, Scholl-Burgi, S, Seal, S, Shalev, S A, Corcoles, C S, Sinha, G P, Soler, D, Spiegel, R, Stephenson, J B P, Tacke, U, Tan, T Y, Till, M, Tolmie, J L, Tomlin, P, Vagnarelli, F, Valente, E M, Van Coster, R N A, Van der Aa, N, Vanderver, A, Vles, J S H, Voit, T, Wassmer, E, Weschke, B, Whiteford, M L, Willemsen, M A A, Zankl, A, Zuberi, S M, Orcesi, S, Fazzi, E, Lebon, P & Crow, Y J 2007, ' Clinical and molecular phenotype of Aicardi-Goutieres syndrome ', American Journal of Human Genetics, vol. 81, no. 4, pp. 713-25 . https://doi.org/10.1086/521373
Rice, G, Patrick, T, Parmar, R, Taylor, C F, Aeby, A, Aicardi, J, Artuch, R, Montalto, S A, Bacino, C A, Barroso, B, Baxter, P, Benko, W S, Bergmann, C, Bertini, E, Biancheri, R, Blair, E M, Blau, N, Bonthron, D T, Briggs, T, Brueton, L A, Brunner, H G, Burke, C J, Carr, I M, Carvalho, D R, Chandler, K E, Christen, H J, Corry, P C, Cowan, F M, Cox, H, D'Arrigo, S, Dean, J, De Laet, C, De Praeter, C, Déry, C, Ferrie, C D, Flintoff, K, Frints, S G M, Garcia-Cazorla, A, Gener, B, Goizet, C, Goutières, F, Green, A J, Guët, A, Hamel, B C J, Hayward, B E, Heiberg, A, Hennekam, R C, Husson, M, Jackson, A P, Jayatunga, R, Jiang, Y H, Kant, S G, Kao, A, King, M D, Kingston, H M, Klepper, J, Van Der Knaap, M S, Kornberg, A J, Kotzot, D, Kratzer, W, Lacombe, D, Lagae, L, Landrieu, P G, Lanzi, G, Leitch, A, Lim, M J, Livingston, J H, Lourenco, C M, Lyall, E G H, Lynch, S A, Lyons, M J, Marom, D, McClure, J P, McWilliam, R, Melancon, S B, Mewasingh, L D, Moutard, M L, Nischal, K K, Østergaard, J R, Prendiville, J, Rasmussen, M, Rogers, R C, Roland, D, Rosser, E M, Rostasy, K, Roubertie, A, Sanchis, A, Schiffmann, R, Scholl-Bürgi, S, Seal, S, Shalev, S A, Corcoles, C S, Sinha, G P, Soler, D, Spiegel, R, Stephenson, J B P, Tacke, U, Tiong, Y T, Till, M, Tolmie, J L, Tomlin, P, Vagnarelli, F, Valente, E M, Van Coster, R N A, Van Der Aa, N, Vanderver, A, Vles, J S H, Voit, T, Wassmer, E, Weschke, B, Whiteford, M L, Willemsen, M A A, Zankl, A, Zuberi, S M, Orcesi, S, Fazzi, E, Lebon, P & Crow, Y J 2007, ' Clinical and molecular phenotype of Aicardi-Goutières syndrome ', American journal of human genetics, vol. 81, no. 4, pp. 713-725 . https://doi.org/10.1086/521373
American Journal of Human Genetics, 81, 4, pp. 713-25
Rice, G, Patrick, T, Parmar, R, Taylor, C F, Aeby, A, Aicardi, J, Artuch, R, Montalto, S A, Bacino, C A, Barroso, B, Baxter, P, Benko, W S, Bergmann, C, Bertini, E, Biancheri, R, Blair, E M, Blau, N, Bonthron, D T, Briggs, T, Brueton, L A, Brunner, H G, Burke, C J, Carr, I M, Carvalho, D R, Chandler, K E, Christen, H-J, Corry, P C, Cowan, F M, Cox, H, D'Arrigo, S, Dean, J, De Laet, C, De Praeter, C, Dery, C, Ferrie, C D, Flintoff, K, Frints, S G M, Garcia-Cazorla, A, Gener, B, Goizet, C, Goutieres, F, Green, A J, Guet, A, Hamel, B C J, Hayward, B E, Heiberg, A, Hennekam, R C, Husson, M, Jackson, A P, Jayatunga, R, Jiang, Y-H, Kant, S G, Kao, A, King, M D, Kingston, H M, Klepper, J, van der Knaap, M S, Kornberg, A J, Kotzot, D, Kratzer, W, Lacombe, D, Lagae, L, Landrieu, P G, Lanzi, G, Leitch, A, Lim, M J, Livingston, J H, Lourenco, C M, Lyall, E G H, Lynch, S A, Lyons, M J, Marom, D, McClure, J P, McWilliam, R, Melancon, S B, Mewasingh, L D, Moutard, M-L, Nischal, K K, Østergaard, J R, Prendiville, J, Rasmussen, M, Rogers, R C, Roland, D, Rosser, E M, Rostasy, K, Roubertie, A, Sanchis, A, Schiffmann, R, Scholl-Burgi, S, Seal, S, Shalev, S A, Corcoles, C S, Sinha, G P, Soler, D, Spiegel, R, Stephenson, J B P, Tacke, U, Tan, T Y, Till, M, Tolmie, J L, Tomlin, P, Vagnarelli, F, Valente, E M, Van Coster, R N A, Van der Aa, N, Vanderver, A, Vles, J S H, Voit, T, Wassmer, E, Weschke, B, Whiteford, M L, Willemsen, M A A, Zankl, A, Zuberi, S M, Orcesi, S, Fazzi, E, Lebon, P & Crow, Y J 2007, ' Clinical and molecular phenotype of Aicardi-Goutieres syndrome. ', American Journal of Human Genetics, vol. 81, no. 4, pp. 713-25 . https://doi.org/10.1086/521373
The American journal of human geneticsمصطلحات موضوعية: Male, Genetics and epigenetic pathways of disease [NCMLS 6], genotype, DNA Mutational Analysis, Medizin, medicine.disease_cause, Locus heterogeneity, mutator gene, Genotype, Missense mutation, Genetics(clinical), Child, Genetics (clinical), Ribonuclease H, Calf Thymus, Genetics, Mutation, Brain, Calcinosis, genetic screening, Syndrome, humanities, Aicardi Goutieres syndrome, Chilblains, Phenotype, priority journal, Child, Preschool, RNASEH2A gene, TREX1 gene, Female, Functional Neurogenomics [DCN 2], Adult, RNASEH2B gene, Adolescent, phenotype, Ribonuclease H, Molecular Sequence Data, Lymphocytosis, Biology, gene frequency, Article, Aicardi syndrome, Genomic disorders and inherited multi-system disorders [IGMD 3], pedigree analysis, Basal Ganglia Diseases, RNASEH2C gene, medicine, Humans, controlled study, human, Allele frequency, gene identification, missense mutation, Infant, Newborn, Infant, nucleotide sequence, medicine.disease, Phosphoproteins, major clinical study, mortality, Neuromuscular development and genetic disorders [UMCN 3.1], congenital infection, Exodeoxyribonucleases, Genetic defects of metabolism [UMCN 5.1], Immunology, Endonuclease complex, Aicardi–Goutières syndrome, Human medicine
وصف الملف: application/pdf; pdf
-
17
المؤلفون: Suzanna G.M. Frints, Joris A. Veltman, Merryn V. E. Macville, Brigitte H. W. Faas, Aimee D C Paulussen, Sabine Spierts, Elke Mersy, Leonie M.H. Houben
المساهمون: RS: GROW - Developmental Biology, RS: GROW - R4 - Reproductive and Perinatal Medicine, Promovendi ODB, MUMC+: DA Pat Cytologie (9), MUMC+: DA KG Lab Centraal Lab (9), Groei & Ontwikkeling
المصدر: Clinical Chemistry, 61(12), 1515-1523. American Association for Clinical Chemistry
Clinical Chemistry, 61, 1515-23
Clinical Chemistry, 61, 12, pp. 1515-23مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Sex Determination Analysis, Placenta, Clinical Biochemistry, Gene Expression, Prenatal care, Biology, Sensitivity and Specificity, Andrology, Fetus, Pregnancy, Fetal sex, Prenatal Diagnosis, medicine, Humans, Multiplex, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Amelogenin, Reverse Transcriptase Polymerase Chain Reaction, Biochemistry (medical), Other Research Radboud Institute for Health Sciences [Radboudumc 0], DNA, medicine.disease, Reverse transcriptase, Cell-free fetal DNA, Nucleic acid, RNA, Female, Multiplex Polymerase Chain Reaction, Biomarkers
-
18
المؤلفون: Suzanna G.M. Frints, Corrado Romano, Erich E. Wanker, Charles E. Schwartz, Mikio Hoshino, Takeshi Kawauchi, Marius Sudol, Yoshiho Ikeuchi, Teppei Shimamura, Xigui Chen, Kyota Fujita, Tina Rich, Satoru Miyano, Hidenori Homma, Chisato Yoshida, Azad Bonni, Seiya Imoto, Hikaru Ito, Hiroki Shiwaku, Ute Fischer, Hong Luo, Hitoshi Okazawa, Vera M. Kalscheuer, Luciana Musante, Anup Arumughan, Fumio Matsuzaki, Shin-ichi Muramatsu
المساهمون: Klinische Genetica, MUMC+: DA KG Polikliniek (9), RS: GROW - Oncology, RS: GROW - R4 - Reproductive and Perinatal Medicine
المصدر: Molecular Psychiatry
Molecular Psychiatry, 20(4), 459-471. Nature Publishing Groupمصطلحات موضوعية: Male, Programmed cell death, Microcephaly, Neurogenesis, Cell, Apoptosis, Biology, Adenoviridae, Nestin, Mice, Cellular and Molecular Neuroscience, Neural Stem Cells, medicine, Animals, Humans, Apc4 Subunit, Anaphase-Promoting Complex-Cyclosome, Progenitor cell, Molecular Biology, Mitosis, Cell Proliferation, Mice, Knockout, Cell Cycle, Brain, Nuclear Proteins, Genetic Therapy, Cell cycle, Embryo, Mammalian, Synapsins, medicine.disease, 3. Good health, Cell biology, DNA-Binding Proteins, Disease Models, Animal, Psychiatry and Mental health, medicine.anatomical_structure, Female, Original Article, Stem cell, Carrier Proteins, Function and Dysfunction of the Nervous System, Cell Adhesion Molecules, Neuroscience
وصف الملف: application/pdf
-
19
المؤلفون: Suzanna G.M. Frints, Peter Marynen, Hilde Van Esch, Guy Froyen, Christine E. M. de Die-Smulders, Marijke Bauters, Jean-Pierre Fryns, Liesbeth Spruijt, Marcella M. Baldewijns
المساهمون: Populatie Genetica, Pathologie, RS: GROW - Developmental Biology, RS: GROW - R4 - Reproductive and Perinatal Medicine, Genetica & Celbiologie, Klinische Genetica
المصدر: American Journal of Medical Genetics. Part A, 164A, 1947-52
American Journal of Medical Genetics Part A, 164(8), 1947-1952. Wiley
American Journal of Medical Genetics. Part A, 164A, 8, pp. 1947-52مصطلحات موضوعية: growth hormone deficiency, Adult, Male, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, Genotype, gene overexpression, Gene Dosage, Hypopituitarism, Biology, neural tube defect, Growth hormone deficiency, Tumours of the digestive tract Radboud Institute for Health Sciences [Radboudumc 14], Young Adult, Genes, X-Linked, Risk Factors, Internal medicine, Chromosome Segregation, Gene duplication, Chromosome Duplication, Genetics, medicine, Humans, Neural Tube Defects, RNA, Messenger, Risk factor, X-linked hypopituitarism, Genetics (clinical), Chromosomes, Human, X, Comparative Genomic Hybridization, Neural tube defect, Spina bifida, SOXB1 Transcription Factors, Neural tube, Chromosome Mapping, SOX3 duplication, medicine.disease, Penetrance, Pedigree, Endocrinology, medicine.anatomical_structure, Female, Microsatellite Repeats
-
20
المؤلفون: Joy Yaplito-Lee, Charles E. Schwartz, S Waltz, Katrin Õunap, S Mercimek-Mahmutoglu, Marie-Cécile Nassogne, Luísa Diogo, Hitoshi Osaka, Stephanie Grunewald, Carla Valongo, A Schulze, Marc D'Hooghe, A. Errami, I Poggenburg, Nicola K. Poplawski, F Hofstede, Hanne Meijers-Heijboer, C. Jakobs, Yves Sznajer, Angela Arias, Bridget Wilcken, H Azzouz, Suzanna G.M. Frints, A.P.M. de Brouwer, Gajja S. Salomons, M.S. van der Knaap, Diana Johnson, Tjitske Kleefstra, Antonia Ribes, M. A. Vilaseca, S Schwenger, JM Pinard, Grazia M.S. Mancini, Irina Anselm, S von der Haar, Sarina G. Kant, J.M. van de Kamp, J P Monteiro, Nicola Longo, G Soares, Vassili Valayannopoulos, Petra J. W. Pouwels, Drago Bratkovic, H Van Esch, L Abulhoul, David Cheillan, M Fonseca, Helger G. Yntema, Ofir T. Betsalel, J A Maat-Kievit, S Quijano-Roy, L. Lion-François, Jaime Campistol, Gaelle Pitelet, Paula Garcia, M M C Wamelink, Ania C. Muntau, Ben C.J. Hamel, Arnold Munnich, Omar A. Abdul-Rahman
المساهمون: Hematology, Surgery, Clinical Genetics, Functional Genomics, Neuroscience Campus Amsterdam - Brain Mechanisms in Health & Disease, Human genetics, Laboratory Medicine, Physics and medical technology, Pediatric surgery, NCA - Brain mechanisms in health and disease, CCA -Cancer Center Amsterdam, ARD - Amsterdam Reproduction and Development, Human Genetics, MUMC+: DA KG Polikliniek (9), Klinische Genetica, RS: CARIM School for Cardiovascular Diseases
المصدر: van de Kamp, J M, Betsalel, O T, Mercimek-Mahmutoglu, S, Abulhoul, L, Grunewald, S, Anselm, I, Azzouz, H, Bratkovic, D, de Brouwer, A, Hamel, B, Kleefstra, T, Yntema, H, Campistol, J, Vilaseca, M A, Cheillan, D, D'Hooghe, M, Diogo, L, Garcia, P, Valongo, C, Fonseca, M, Frints, S, Wilcken, B, Haar, S, Meijers-Heijboer, H E, Hofstede, F, Johnson, D, Kant, S G, Lion-Francois, L, Pitelet, G, Longo, N, Maat-Kievit, J A, Monteiro, J P, Munnich, A, Muntau, A C, Nassogne, M C, Osaka, H, Ounap, K, Pinard, J M, Quijano-Roy, S, Poggenburg, I, Poplawski, N, Abdul-Rahman, O A, Ribes, A, Arias, A, Yaplito-Lee, J, Schulze, A, Schwartz, C E, Schwenger, S, Soares, G, Sznajer, Y, Valayannopoulos, V, Van Esch, H, Waltz, S, Wamelink, M M C, Pouwels, P J W, Errami, A, van der Knaap, M S, Jakobs, C A J M, Mancini, G M & Salomons, G S 2013, ' Phenotype and genotype in 101 males with X-linked creatine transporter deficiency ', Journal of Medical Genetics, vol. 50, no. 7, pp. 463-472 . https://doi.org/10.1136/jmedgenet-2013-101658
Journal of Medical Genetics, 50(7), 463-472. BMJ Publishing Group
Journal of Medical Genetics, 50, 7, pp. 463-72
Journal of Medical Genetics, 50(7), 463-472
Journal of medical genetics, 50(7), 463-472. BMJ Publishing Group
Journal of Medical Genetics, 50, 463-72مصطلحات موضوعية: In vivo magnetic resonance spectroscopy, Adult, Male, medicine.medical_specialty, Genotype, DCN MP - Plasticity and memory, Germline mosaicism, Nerve Tissue Proteins, DCN PAC - Perception action and control, SLC6A8, Creatine, Bioinformatics, Plasma Membrane Neurotransmitter Transport Proteins, Genomic disorders and inherited multi-system disorders [IGMD 3], chemistry.chemical_compound, SDG 3 - Good Health and Well-being, Genes, X-Linked, Molecular genetics, Intellectual Disability, Intellectual disability, Diagnosis, Genetics, medicine, Missense mutation, Humans, Genetic Counselling, Genetic Testing, Child, Genetics (clinical), Retrospective Studies, Creatinine, business.industry, Brain Diseases, Metabolic, Inborn, Genomic disorders and inherited multi-system disorders [DCN PAC - Perception action and control IGMD 3], medicine.disease, Prognosis, Doenças Genéticas, Genetics and epigenetic pathways of disease DCN MP - Plasticity and memory [NCMLS 6], Phenotype, chemistry, Transportador da Creatina, Mental Retardation, X-Linked, business