المؤلفون: Van Dijck, A, Vulto-van Silfhout, AT, Cappuyns, E, van der Werf, IM, Mancini, GM, Tzschach, A, Bernier, R, Gozes, I, Eichler, EE, Romano, C, Lindstrand, A, Nordgren, A, Kvarnung, M, Kleefstra, T, de Vries, BBA, Kury, S, Rosenfeld, JA, Meuwissen, ME, Vandeweyer, G, Kooy, RF, Bakshi, M, Wilson, M, Berman, Y, Dickson, R, Fransen, E, Helsmoortel, C, Van den Ende, J, Van der Aa, N, van de Wijdeven, MJ, Rosenblum, J, Monteiro, F, Kok, F, Quercia, N, Bowdin, S, Dyment, D, Chitayat, D, Alkhunaizi, E, Boonen, SE, Keren, B, Jacquette, A, Faivre, L, Bezieau, S, Isidor, B, Riess, A, Moog, U, Lynch, SA, McVeigh, T, Elpeleg, O, Smeland, MF, Fannemel, M, van Haeringen, A, Maas, SM, Veenstra-Knol, HE, Schouten, M, Willemsen, MH, Marcelis, CL, Ockeloen, C, van der Burgt, I, Feenstra, I, van der Smagt, J, Jezela-Stanek, A, Krajewska-Walasek, M, Gonzalez-Lamuno, D, Anderlid, BM, Malmgren, H, Nordenskjold, M, Clement, E, Hurst, J, Metcalfe, K, Mansour, S, Lachlan, K, Clayton-Smith, J, Hendon, LG, Abdulrahman, OA, Morrow, E, McMillan, C, Gerdts, J, Peeden, J, Vergano, SAS, Valentino, C, Chung, WK, Ozmore, JR, Bedrosian-Sermone, S, Dennis, A, Treat, K, Hughes, SS, Safina, N, Le Pichon, JB, McGuire, M, Infante, E, Madan-Khetarpal, S, Desai, S, Benke, P, Krokosky, A, Cristian, I, Baker, L, Gripp, K, Stessman, HA, Eichenberger, J, Jayakar, P, Pizzino, A, Manning, MA, Slattery, L

المصدر: Biological psychiatry. 85(4):287-297

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:140073087

المؤلفون: van der Werf, IM

المساهمون: Kaspers, Gertjan, Cloos, Jacqueline, Wojtuszkiewicz, Anna, Groen, Richard, Hematology laboratory, Kaspers, G.J.L., Cloos, J., Wojtuszkiewicz, Anna Monika, Groen, R.

المصدر: van der Werf, I M 2022, ' Splicing Deregulation and Splicing Modulation in Acute Myeloid Leukemia : DNA is not Destiny ', Dr., Vrije Universiteit Amsterdam .
van der Werf, IM 2022, ' Splicing Deregulation and Splicing Modulation in Acute Myeloid Leukemia: DNA is not Destiny ', Doctor of Philosophy, Vrije Universiteit Amsterdam, Netherlands . < https://hdl.handle.net/1871.1/d8faf35c-e79a-4702-85e8-47a781d2fc41 >

مصطلحات موضوعية: Acute Myeloid Leukemia, FLT3/ITD, Alternatieve Splicing, SF3B1, Pediatric Acute Myeloid Leukemia, Splicing Factor Mutation, Alternative Splicing, Splicing Deregulatie, hemic and lymphatic diseases, Leukemie in Kinderen, Acute Myeloïde Leukemie, Splicing Regulator Mutatie, Splicing Modulation, Splicing Deregulation, neoplasms, Splicing Modulatie

وصف الملف: image/jpeg; application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::6dd4e80e27187b97e6c318d9fc1758e7
https://hdl.handle.net/1871.1/d8faf35c-e79a-4702-85e8-47a781d2fc41

المؤلفون: van der Werf IM; Department of Medical Genetics, University of Antwerp, Antwerp, Belgium., Jansen S; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboudumc, Nijmegen, The Netherlands., de Vries PF; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboudumc, Nijmegen, The Netherlands., Gerstmans A; Department of Medical Genetics, University of Antwerp, Antwerp, Belgium., van de Vorst M; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboudumc, Nijmegen, The Netherlands., Van Dijck A; Department of Medical Genetics, University of Antwerp, Antwerp, Belgium., de Vries BBA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboudumc, Nijmegen, The Netherlands., Gilissen C; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboudumc, Nijmegen, The Netherlands., Hoischen A; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboudumc, Nijmegen, The Netherlands., Vissers LELM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboudumc, Nijmegen, The Netherlands., Kooy RF; Department of Medical Genetics, University of Antwerp, Antwerp, Belgium., Vandeweyer G; Department of Medical Genetics, University of Antwerp, Antwerp, Belgium. Geert.Vandeweyer@uantwerpen.be.

المصدر: European journal of human genetics : EJHG [Eur J Hum Genet] 2020 Dec; Vol. 28 (12), pp. 1726-1733. Date of Electronic Publication: 2020 Jul 10.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Gene Regulatory Networks* , Polymorphism, Genetic* , Protein Interaction Maps*, Ankyrins/*genetics , Neurodevelopmental Disorders/*genetics, Ankyrins/metabolism ; Databases, Genetic ; Humans

المؤلفون: Jansen S; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands., van der Werf IM; Department of Medical Genetics, University Hospital and University of Antwerp, Universiteitsplein 1, 2610, Antwerp, Belgium., Innes AM; Alberta Children's Hospital Research Institute and Department of Medical Genetics, Cumming School of Medicine, University of Calgary, 2888 Shaganappi Trail NW, Calgary, AB, T3B 6A8, Canada., Afenjar A; Centre de Référence Déficiences Intellectuelles de Causes Rares, 75013, Paris, France.; APHP, GHUEP, Hôpital Armand Trousseau, Centre de Référence 'Malformations et maladies congénitales du cervelet', 75012, Paris, France., Agrawal PB; Divisions of Genetics and Genomics and Newborn Medicine, Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA, 02115, USA., Anderson IJ; The University of Tennessee Genetics Center, Knoxville, TN, 37920, USA., Atwal PS; Department of Clinical Genomics, Mayo Clinic, Jacksonville, FL, 32224, USA., van Binsbergen E; Department of Genetics, University Medical Centre Utrecht, P.O. Box 85500, 3508 GA, Utrecht, The Netherlands., van den Boogaard MJ; Department of Genetics, University Medical Centre Utrecht, P.O. Box 85500, 3508 GA, Utrecht, The Netherlands., Castiglia L; Laboratory of Medical Genetics, Oasi Research Institute, 94018, Troina, Italy., Coban-Akdemir ZH; Baylor-Hopkins Center for Mendelian Genomics, Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., van Dijck A; Department of Medical Genetics, University Hospital and University of Antwerp, Universiteitsplein 1, 2610, Antwerp, Belgium., Doummar D; APHP, Service de Neurologie pédiatrique, Hôpital Armand Trousseau, Paris, France.; Sorbonne Université,GRC ConCer-LD, AP-HP, Hôpital Trousseau, Paris, France.; Service de neuropediatrie, Hôpital Trousseau, 26 avenue du dr Arnold Netter, 75012, Paris, France., van Eerde AM; Department of Genetics, University Medical Centre Utrecht, P.O. Box 85500, 3508 GA, Utrecht, The Netherlands., van Essen AJ; Department of Genetics, University of Groningen, University Medical Center Groningen (UMCG), 9700 RB, Groningen, The Netherlands., van Gassen KL; Department of Genetics, University Medical Centre Utrecht, P.O. Box 85500, 3508 GA, Utrecht, The Netherlands., Guillen Sacoto MJ; GeneDx, Gaithersburg, MD, 20877, USA., van Haelst MM; Department of Clinical Genetics, VU University Medical Center, 1081 HV, Amsterdam, The Netherlands., Iossifov I; Cold Spring Harbor Laboratory, Cold Spring Harbor, New York, NY, 11724, USA.; New York Genome Center, New York, NY, 10013, USA., Jackson JL; Department of Clinical Genomics, Mayo Clinic, Jacksonville, FL, 32224, USA., Judd E; Department of Psychiatry, Washington University School of Medicine, St Louis, MO, 63110, USA., Kaiwar C; Center for Individualized Medicine, Mayo Clinic, Scottsdale, AZ, 85259, USA.; Invitae, 1400 16th Street, San Francisco, CA, 94103, USA., Keren B; Département de Génétique, APHP, GH Pitié-Salpêtrière, Paris, 75013, France., Klee EW; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, 55905, USA., Klein Wassink-Ruiter JS; Department of Genetics, University of Groningen, University Medical Center Groningen (UMCG), 9700 RB, Groningen, The Netherlands., Meuwissen ME; Department of Medical Genetics, University Hospital and University of Antwerp, Universiteitsplein 1, 2610, Antwerp, Belgium., Monaghan KG; GeneDx, Gaithersburg, MD, 20877, USA., de Munnik SA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands., Nava C; Département de Génétique, APHP, GH Pitié-Salpêtrière, Paris, 75013, France.; INSERM, U 1127, CNRS UMR 7225, Institut du Cerveau et de la Moelle épinière, ICM, Sorbonne Universités, UPMC Université de Paris 06, 75013, Paris, France., Ockeloen CW; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands., Pettinato R; Pediatrics and Medical Genetics, Oasi Research Institute - IRCCS, 94018, Troina, Italy., Racher H; Alberta Children's Hospital Research Institute and Department of Medical Genetics, Cumming School of Medicine, University of Calgary, 2888 Shaganappi Trail NW, Calgary, AB, T3B 6A8, Canada.; Impact Genetics, 1100 Bennett Road, Bowmanville, ON, L1C 3K5, Canada., Rinne T; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands., Romano C; Pediatrics and Medical Genetics, Oasi Research Institute - IRCCS, 94018, Troina, Italy., Sanders VR; Department of Pediatrics, Division of Genetics, Birth Defects and Metabolism, Ann and Robert H Lurie Children's Hospital of Chicago, 225 East Chicago Avenue, Chicago, IL, 60611, USA., Schnur RE; GeneDx, Gaithersburg, MD, 20877, USA., Smeets EJ; Department of Clinical Genetics, Maastricht University Medical Centre, Universiteitssingel 50, 9229 ER, Maastricht, The Netherlands., Stegmann APA; Department of Clinical Genetics, Maastricht University Medical Centre, Universiteitssingel 50, 9229 ER, Maastricht, The Netherlands., Stray-Pedersen A; Baylor-Hopkins Center for Mendelian Genomics, Baylor College of Medicine, Houston, TX, 77030, USA.; Norwegian National Unit for Newborn Screening, Department of Pediatric and Adolescent Medicine, Oslo University Hospital, Pb 4950 Nydalen, 0424, Oslo, Norway.; Institute of Clinical Medicine, University of Oslo, 0318, Oslo, Norway., Sweetser DA; Division of Medical Genetics, Massachusetts General Hospital for Children, Boston, MA, 02114, USA., Terhal PA; Department of Genetics, University Medical Centre Utrecht, P.O. Box 85500, 3508 GA, Utrecht, The Netherlands., Tveten K; Department of Medical Genetics, Telemark Hospital Trust, 3710, Skien, Norway., VanNoy GE; Divisions of Genetics and Genomics and Newborn Medicine, Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA, 02115, USA., de Vries PF; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands., Waxler JL; Division of Medical Genetics, Massachusetts General Hospital for Children, Boston, MA, 02114, USA., Willing M; Department of Pediatrics, Washington University School of Medicine, St Louis, MO, 63110, USA., Pfundt R; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands., Veltman JA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.; Institute of Genetic Medicine, International Centre for Life, Newcastle University, Central Parkway, Newcastle, NE1 3BZ, UK., Kooy RF; Department of Medical Genetics, University Hospital and University of Antwerp, Universiteitsplein 1, 2610, Antwerp, Belgium., Vissers LELM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands., de Vries BBA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands. bert.devries@radboudumc.nl.

المصدر: European journal of human genetics : EJHG [Eur J Hum Genet] 2019 May; Vol. 27 (5), pp. 738-746. Date of Electronic Publication: 2019 Jan 24.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Behavior* , Genetic Variation*, Abnormalities, Multiple/*genetics , F-Box Proteins/*genetics , Intellectual Disability/*genetics , Protein-Arginine N-Methyltransferases/*genetics, Gene Deletion ; Humans ; Syndrome

المؤلفون: Huijbers EJM; Angiogenesis Laboratory, Department of Medical Oncology, Cancer Center Amsterdam, VU University Medical Center, Amsterdam UMC, Amsterdam, Netherlands., van der Werf IM; Hematology Laboratory, Department of Hematology, Cancer Center Amsterdam, VU University Medical Center, Amsterdam UMC, Amsterdam, Netherlands., Faber LD; Angiogenesis Laboratory, Department of Medical Oncology, Cancer Center Amsterdam, VU University Medical Center, Amsterdam UMC, Amsterdam, Netherlands., Sialino LD; Angiogenesis Laboratory, Department of Medical Oncology, Cancer Center Amsterdam, VU University Medical Center, Amsterdam UMC, Amsterdam, Netherlands., van der Laan P; Angiogenesis Laboratory, Department of Medical Oncology, Cancer Center Amsterdam, VU University Medical Center, Amsterdam UMC, Amsterdam, Netherlands., Holland HA; Angiogenesis Laboratory, Department of Medical Oncology, Cancer Center Amsterdam, VU University Medical Center, Amsterdam UMC, Amsterdam, Netherlands., Cimpean AM; Department of Histology, Angiogenesis Research Center Timisoara, Victor Babeş University of Medicine and Pharmacy, Timisoara, Romania., Thijssen VLJL; Angiogenesis Laboratory, Department of Medical Oncology, Cancer Center Amsterdam, VU University Medical Center, Amsterdam UMC, Amsterdam, Netherlands., van Beijnum JR; Angiogenesis Laboratory, Department of Medical Oncology, Cancer Center Amsterdam, VU University Medical Center, Amsterdam UMC, Amsterdam, Netherlands., Griffioen AW; Angiogenesis Laboratory, Department of Medical Oncology, Cancer Center Amsterdam, VU University Medical Center, Amsterdam UMC, Amsterdam, Netherlands.

المصدر: Frontiers in immunology [Front Immunol] 2019 Apr 02; Vol. 10, pp. 651. Date of Electronic Publication: 2019 Apr 02 (Print Publication: 2019).

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101560960 Publication Model: eCollection Cited Medium: Internet ISSN: 1664-3224 (Electronic) Linking ISSN: 16643224 NLM ISO Abbreviation: Front Immunol Subsets: MEDLINE

مواضيع طبية MeSH: 12E7 Antigen/*immunology , Cancer Vaccines/*therapeutic use , Endothelium, Vascular/*immunology , Sarcoma, Ewing/*therapy, Animals ; Cell Line, Tumor ; Female ; Human Umbilical Vein Endothelial Cells/immunology ; Humans ; Mice, Inbred BALB C ; Mice, Inbred C3H ; Protein Splicing ; Sarcoma, Ewing/immunology ; Sarcoma, Ewing/pathology ; Tumor Burden

المؤلفون: Oliver GR; Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota.; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota., Blackburn PR; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota., Ellingson MS; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota., Conboy E; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota., Pinto E Vairo F; Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota.; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota., Webley M; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota., Thorland E; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota., Ferber M; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota., Van Hul E; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium., van der Werf IM; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium., Wuyts W; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium., Babovic-Vuksanovic D; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota.; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota.; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota., Klee EW; Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota.; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota.; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota.; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota.

المصدر: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2019 Mar; Vol. 7 (3), pp. e00560. Date of Electronic Publication: 2019 Jan 10.

نوع المنشور: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2324-9269 (Electronic) Linking ISSN: 23249269 NLM ISO Abbreviation: Mol Genet Genomic Med Subsets: MEDLINE

مواضيع طبية MeSH: Gene Fusion*, Exostoses, Multiple Hereditary/*genetics , N-Acetylglucosaminyltransferases/*genetics , Nerve Tissue Proteins/*genetics, Child ; Exostoses, Multiple Hereditary/pathology ; Gene Deletion ; Humans ; Male ; RNA, Messenger/genetics ; Sterile Alpha Motif/genetics

المؤلفون: Beygo J; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany., Küchler A; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany., Gillessen-Kaesbach G; Institut für Humangenetik, Universität zu Lübeck, Lübeck, Germany., Albrecht B; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany., Eckle J; Sozialpädiatrisches Zentrum, St. Elisabeth-Stiftung, Ravensburg, Germany., Eggermann T; Institute of Human Genetics, RWTH Aachen, Aachen, Germany., Gellhaus A; Klinik für Frauenheilkunde und Geburtshilfe, Universitätsklinikum Essen, Essen, Germany., Kanber D; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany., Kordaß U; MVZ für Humangenetik und Molekularpathologie Rostock, Zweigstelle Greifswald, Greifswald, Germany., Lüdecke HJ; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.; Institut für Humangenetik, Universitätsklinikum Düsseldorf, Düsseldorf, Germany., Purmann S; Institut für Humangenetik, Universität zu Lübeck, Lübeck, Germany., Rossier E; Institut für Medizinische Genetik und angewandte Genomik, Universiät Tübingen, Tübingen, Germany.; Genetikum Stuttgart, Stuttgart, Germany., van de Nes J; Institute of Neuropathology, Faculty of Medicine, University Duisburg-Essen, Essen, Germany.; Institute of Pathology, University of Bochum, Bochum, Germany., van der Werf IM; Department of Medical Genetics, University of Antwerp, Antwerp, Belgium., Wenzel M; Genetikum Neu-Ulm, Neu-Ulm, Germany., Wieczorek D; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.; Institut für Humangenetik, Universitätsklinikum Düsseldorf, Düsseldorf, Germany., Horsthemke B; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany., Buiting K; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.

المصدر: European journal of human genetics : EJHG [Eur J Hum Genet] 2017 Aug; Vol. 25 (8), pp. 935-945. Date of Electronic Publication: 2017 Jun 21.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: DNA Methylation* , Genomic Imprinting*, Chromosome Disorders/*genetics , Chromosomes, Human, Pair 14/*genetics , RNA, Small Nucleolar/*genetics, Adult ; Aged ; Chromosome Disorders/diagnosis ; Female ; Humans ; Infant ; Male ; Middle Aged ; RNA, Long Noncoding/genetics ; RNA, Small Nucleolar/metabolism

المؤلفون: van der Werf IM; Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, 2610, Wilrijk, Belgium. Electronic address: ilse.vanderwerf@uantwerpen.be., Van Dam D; Laboratory of Neurochemistry and Behaviour, Institute Born-Bunge, University of Antwerp, Universiteitsplein 1, 2610, Wilrijk, Belgium; Department of Neurology and Alzheimer Research Center, University of Groningen and University Medical Center Groningen (UMCG), Groningen, The Netherlands. Electronic address: debby.vandam@uantwerpen.be., Missault S; Experimental Laboratory of Translational Neuroscience and Otolaryngology, University of Antwerp, Universiteitsplein 1, 2610, Wilrijk, Belgium. Electronic address: stephan.missault@uantwerpen.be., Yalcin B; Center for Integrative Genomics, University of Lausanne, UNIL Sorge, 1015, Lausanne, Switzerland; Institute of Genetics and Molecular and Cellular Biology, 1 rue Laurent Fries, 67404, Illkirch Cedex, France. Electronic address: binnaz.yalcin@igbmc.fr., De Deyn PP; Laboratory of Neurochemistry and Behaviour, Institute Born-Bunge, University of Antwerp, Universiteitsplein 1, 2610, Wilrijk, Belgium; Department of Neurology and Alzheimer Research Center, University of Groningen and University Medical Center Groningen (UMCG), Groningen, The Netherlands; Department of Neurology and Memory Clinic, Hospital Network Antwerp (ZNA) Middelheim and Hoge Beuken, Antwerp, Belgium; Biobank, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium. Electronic address: peter.dedeyn@uantwerpen.be., Vandeweyer G; Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, 2610, Wilrijk, Belgium. Electronic address: geert.vandeweyer@uantwerpen.be., Kooy RF; Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, 2610, Wilrijk, Belgium. Electronic address: frank.kooy@uantwerpen.be.

المصدر: Behavioural brain research [Behav Brain Res] 2017 Jun 15; Vol. 328, pp. 218-226. Date of Electronic Publication: 2017 Apr 11.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Elsevier/North-Holland Biomedical Press Country of Publication: Netherlands NLM ID: 8004872 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1872-7549 (Electronic) Linking ISSN: 01664328 NLM ISO Abbreviation: Behav Brain Res Subsets: MEDLINE

مواضيع طبية MeSH: Ankyrins/*deficiency , Brain/*metabolism , Brain/*pathology , Cognition/*physiology, Animals ; Ankyrins/genetics ; Anxiety/metabolism ; Anxiety/pathology ; Disease Models, Animal ; Heterozygote ; Male ; Mice, Inbred C57BL ; Mice, Knockout ; Motor Activity/physiology ; Neurodevelopmental Disorders/metabolism ; Neurodevelopmental Disorders/pathology ; Neurodevelopmental Disorders/psychology ; Phenotype ; Protein Isoforms ; Sensory Gating/physiology ; Social Behavior

المؤلفون: van der Werf IM; Department of Medical Genetics, University of Antwerp and University Hospital Antwerp, Antwerp, Belgium., Van Dijck A; Department of Medical Genetics, University of Antwerp and University Hospital Antwerp, Antwerp, Belgium., Reyniers E; Department of Medical Genetics, University of Antwerp and University Hospital Antwerp, Antwerp, Belgium., Helsmoortel C; Department of Medical Genetics, University of Antwerp and University Hospital Antwerp, Antwerp, Belgium., Kumar AA; Department of Medical Genetics, University of Antwerp and University Hospital Antwerp, Antwerp, Belgium., Kalscheuer VM; Research Group Development and Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany., de Brouwer AP; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Kleefstra T; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., van Bokhoven H; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Mortier G; Department of Medical Genetics, University of Antwerp and University Hospital Antwerp, Antwerp, Belgium., Janssens S; Center for Medical Genetics Ghent, Ghent University, Ghent University Hospital, Ghent, Belgium., Vandeweyer G; Department of Medical Genetics, University of Antwerp and University Hospital Antwerp, Antwerp, Belgium., Kooy RF; Department of Medical Genetics, University of Antwerp and University Hospital Antwerp, Antwerp, Belgium. Electronic address: Frank.Kooy@uantwerpen.be.

المصدر: Gene [Gene] 2017 Mar 20; Vol. 605, pp. 92-98. Date of Electronic Publication: 2016 Dec 16.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier/North-Holland Country of Publication: Netherlands NLM ID: 7706761 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-0038 (Electronic) Linking ISSN: 03781119 NLM ISO Abbreviation: Gene Subsets: MEDLINE

مواضيع طبية MeSH: Genes, X-Linked* , Genetic Predisposition to Disease* , Mutation*, Articulation Disorders/*genetics , Autism Spectrum Disorder/*genetics , DNA-Binding Proteins/*genetics , Intellectual Disability/*genetics, Adolescent ; Adult ; Articulation Disorders/diagnosis ; Articulation Disorders/physiopathology ; Autism Spectrum Disorder/diagnosis ; Autism Spectrum Disorder/physiopathology ; Base Sequence ; Child ; Exome ; Female ; Gene Expression ; Genome-Wide Association Study ; Humans ; Intellectual Disability/diagnosis ; Intellectual Disability/physiopathology ; Male ; Middle Aged ; Pedigree ; Phenotype ; Sequence Analysis, DNA ; Severity of Illness Index

المؤلفون: van der Werf IM; Department of Medical Genetics, University and University Hospital Antwerp, Antwerp, Belgium., Buiting K; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany., Czeschik C; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany., Reyniers E; Department of Medical Genetics, University and University Hospital Antwerp, Antwerp, Belgium., Vandeweyer G; Department of Medical Genetics, University and University Hospital Antwerp, Antwerp, Belgium., Vanhaesebrouck P; Department of Neonatology, Ghent University Hospital, Ghent, Belgium., Lüdecke HJ; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany., Wieczorek D; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.; Institut für Humangenetik, Universitätsklinikum Düsseldorf, Heinrich-Heine-Universität, Düsseldorf, Germany., Horsthemke B; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany., Mortier G; Department of Medical Genetics, University and University Hospital Antwerp, Antwerp, Belgium., Leroy JG; Greenwood Genetic Center, Greenwood, SC, USA., Kooy RF; Department of Medical Genetics, University and University Hospital Antwerp, Antwerp, Belgium.

المصدر: European journal of human genetics : EJHG [Eur J Hum Genet] 2016 Dec; Vol. 24 (12), pp. 1724-1729. Date of Electronic Publication: 2016 Jul 13.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Sequence Deletion*, Chromosome Disorders/*genetics , RNA, Untranslated/*genetics , Uniparental Disomy/*genetics, Chromosome Disorders/diagnosis ; Chromosomes, Human, Pair 14/genetics ; Humans ; Pedigree ; Phenotype ; Syndrome ; Uniparental Disomy/diagnosis

SCR Disease Name: Uniparental disomy, paternal, chromosome 14