المؤلفون: Calpena, E, Hervieu, A, Kaserer, T, Swagemakers, SMA, Goos, JAC, Popoola, O, Ruiz, MJ, Dieber, T, Bownass, L, Brilstra, EH, Brimble, E, Foulds, N, Grebe, TA, Harder, AVE, Lees, MM, Monaghan, KG, Newbury-Ecob, RA, Ong, K-R, Osio, D, Santos, FJ, Ruzhnikov, MRZ, Telegrafi, A, van Binsbergen, E, van Dooren, MF, Study, Deciphering Developmental Disorders, van der Spek, PJ, Twigg, SRF, Mathijssen, IMJ, Clarke, PA, Wilkie, A

المساهمون: Pathology, Plastic and Reconstructive Surgery and Hand Surgery, Clinical Genetics

المصدر: American Journal of Human Genetics, 104(4), 709-720. Cell Press
American Journal of Human Genetics

مصطلحات موضوعية: Heart Defects, Congenital, Male, Heterozygote, behavioral disorder, kinase, Developmental Disabilities, CDK8, dominant negative, Mutation, Missense, Cyclin C, Report, Intellectual Disability, Mediator kinase modulopathy, Humans, Exome, Mediator complex, hypotonia, Phosphorylation, Child, Brain, Infant, Syndrome, Cyclin-Dependent Kinase 8, congenital heart disease, de novo mutation, Cyclin-Dependent Kinases, Phenotype, Child, Preschool, Mutation, Female

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::0ee1be1d5165b3d84b13f585cbbcf42f
https://pure.eur.nl/en/publications/41a0830d-84cc-45cd-9db1-3553c3f86020

المؤلفون: Reijnders, MRF, Miller, KA, Alvi, M, Goos, JAC, Lees, MM, de Burca, A, Henderson, A, Kraus, A, Mikat, B, de Vries, BBA, Isidor, B, Kerr, B, Marcelis, C, Schluth-Bolard, C, Deshpande, C, Ruivenkamp, CAL, Wieczorek, D, Deciphering Developmental Disorders Study, Baralle, D, Blair, EM, Engels, H, Lüdecke, H-J, Eason, J, Santen, GWE, Clayton-Smith, J, Chandler, K, Tatton-Brown, K, Payne, K, Helbig, K, Radtke, K, Nugent, KM, Cremer, K, Strom, TM, Bird, LM, Sinnema, M, Bitner-Glindzicz, M, van Dooren, MF, Alders, M, Koopmans, M, Brick, L, Kozenko, M, Harline, ML, Klaassens, M, Steinraths, M, Cooper, NS, Edery, P, Yap, P, Terhal, PA, van der Spek, PJ, Lakeman, P, Taylor, RL, Littlejohn, RO, Pfundt, R, Mercimek-Andrews, S, Stegmann, APA, Kant, SG, McLean, S, Joss, S, Swagemakers, SMA, Douzgou, S, Wall, SA, Küry, S, Calpena, E, Koelling, N, McGowan, SJ, Twigg, SRF, Mathijssen, IMJ, Nellaker, C, Brunner, HG, Wilkie, AOM

المصدر: American Journal of Human Genetics, 102(6), 1195-1203
American journal of human genetics, vol 102, iss 6

مصطلحات موضوعية: Adult, Male, Adolescent, kinase, Messenger, Inheritance Patterns, Translocation, Medical and Health Sciences, Cell Line, Young Adult, Genetic, Clinical Research, Loss of Function Mutation, Genetics, 2.1 Biological and endogenous factors, Humans, Aetiology, Child, Preschool, Genetic Association Studies, Genetics & Heredity, Tousled-like, Base Sequence, Human Genome, Neurosciences, Facies, Infant, Deciphering Developmental Disorders Study, Biological Sciences, Brain Disorders, haploinsufficiency, Neurodevelopmental Disorders, intellectual disability, RNA, Female, Protein Kinases, facial averaging, Biotechnology

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::623bf0658c2dd1fcad885b720f5373c3
http://hdl.handle.net/1887/79379

المؤلفون: Sharma, VP, Fenwick, AL, Brockop, MS, McGowan, SJ, Goos, JAC, Hoogeboom, AJM, Brady, AF, Jeelani, O, Lynch, SA, Mulliken, JB, Murray, DJ, Phipps, JM, Sweeney, E, Tomkins, SE, Wilson, LC, Bennett, S, Cornall, RJ, Broxholme, J, Kanapin, A, Donnelly, P, Johnson, D, Wall, SA, van der Spek, PJ, Mathijssen, IMJ, Maxson, RE, Twigg, SRF, Wilkie, AOM

المصدر: LANCET. 381

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______1064::5d7fbbbd710bbe5cf64db4636f2945ba
http://ora.ox.ac.uk/objects/uuid:77a37a71-bbd9-4226-9e31-f65ade6fc9d2

المؤلفون: Louise C. Wilson, Susan Tomkins, Richard J. Cornall, Wilkie Aom., Sally Ann Lynch, Vikram P Sharma, O Jeelani, Peter Donnelly, Steven A. Wall, David Johnson, Julie M. Phipps, Sophia C. Bennett, Alexander Kanapin, John B. Mulliken, Hoogeboom Ajm., P.J. van der Spek, Goos Jac., Elizabeth Sweeney, Simon J. McGowan, Angela F. Brady, Mathijssen Imj., Aimee L. Fenwick, Dylan J. Murray, John Broxholme, Robert E. Maxson, Twigg Srf., M S Brockop

المصدر: The Lancet. 381:S114

مصطلحات موضوعية: medicine.medical_specialty, Pediatrics, Coronal craniosynostosis, business.industry, General Medicine, medicine.disease, Sagittal plane, Craniosynostosis, Surgery, medicine.anatomical_structure, medicine, Etiology, Coronal suture, Craniofacial, business, Haploinsufficiency, Exome sequencing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::1d89ae9b1ed09f5eb913229a132e92dc
https://doi.org/10.1016/s0140-6736(13)60554-1

المؤلفون: Verloop CA; Department of Gastroenterology, Maasstad Hospital, Rotterdam, the Netherlands. Electronic address: verloopc@maasstadziekenhuis.nl., Goos JAC; Department of Internal Medicine, Erasmus University Medical Centre, Rotterdam the Netherlands., Bruno MJ; Department of Gastroenterology, Erasmus University Medical Centre, Rotterdam the Netherlands., Quispel R; Department of Gastroenterology, Reinier de Graaf hospital, Delft, the Netherlands., van Driel LMJW; Department of Gastroenterology, Erasmus University Medical Centre, Rotterdam the Netherlands., Hol L; Department of Gastroenterology, Maasstad Hospital, Rotterdam, the Netherlands.

المصدر: Gastrointestinal endoscopy [Gastrointest Endosc] 2024 Jun; Vol. 99 (6), pp. 895-911.e13. Date of Electronic Publication: 2024 Feb 13.

نوع المنشور: Systematic Review; Journal Article; Review

بيانات الدورية: Publisher: Mosby Yearbook Country of Publication: United States NLM ID: 0010505 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-6779 (Electronic) Linking ISSN: 00165107 NLM ISO Abbreviation: Gastrointest Endosc Subsets: MEDLINE

مواضيع طبية MeSH: Endoscopic Ultrasound-Guided Fine Needle Aspiration*/methods , Endoscopic Ultrasound-Guided Fine Needle Aspiration*/adverse effects, Humans ; Endosonography/methods ; Endoscopy, Gastrointestinal/methods ; Gastrointestinal Neoplasms/pathology ; Gastrointestinal Neoplasms/diagnosis ; Stomach Neoplasms/pathology ; Stomach Neoplasms/diagnosis ; Upper Gastrointestinal Tract/pathology ; Image-Guided Biopsy/methods ; Image-Guided Biopsy/adverse effects ; Esophageal Neoplasms/pathology ; Esophageal Neoplasms/diagnosis

المؤلفون: de Boer E; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands., Ockeloen CW; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands., Kampen RA; Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands., Hampstead JE; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands; Radboud Institute for Molecular Life Sciences, Radboudumc, Nijmegen, The Netherlands., Dingemans AJM; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands., Rots D; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands., Lütje L; Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands., Ashraf T; Department of Clinical Genetics, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom; Clinical Genetics, Guy's and St Thomas' NHS Foundation Trust, London, United Kingdom., Baker R; Advocate Children's Hospital, Park Ridge, IL., Barat-Houari M; Genetic Laboratory of Rare and Autoinflammatory Diseases, Department of Medical Genetics, Rare Diseases and Personalized Medicine, Centre Hospitalier Universitaire de Montpellier, Montpellier, France., Angle B; Advocate Children's Hospital, Park Ridge, IL., Chatron N; Service de Génétique, Hospices Civils de Lyon, Bron, France; Institut NeuroMyoGene, CNRS UMR5310, INSERM U1217, Université Claude Bernard Lyon 1, Lyon, France., Denommé-Pichon AS; Génétique des Anomalies du Développement, Université de Bourgogne Franche-Comté, UMR1231-Inserm, Dijon, France; Laboratoire de Génétique Chromosomique et Moléculaire, UF6254 Innovation en Diagnostic Génomique des Maladies Rares, Centre Hospitalier Universitaire de Dijon, Dijon, France., Devinsky O; Department of Neurology, NYU Grossman School of Medicine, NYU Langone Health, New York, NY., Dubourg C; Service de Génétique Moléculaire et Génomique Médicale, CHU de Rennes, Rennes, France; University of Rennes, CNRS, IGDR, UMR 6290, Rennes, France., Elmslie F; South West Thames Regional Clinical Genetics Service, St George's Hospital, University of London, London, United Kingdom., Elloumi HZ; GeneDx, Gaithersburg, MD., Faivre L; Génétique des Anomalies du Développement, Université de Bourgogne Franche-Comté, UMR1231-Inserm, Dijon, France; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est, Centre Hospitalier Universitaire Dijon, Dijon, France; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), Centre Hospitalier Universitaire Dijon, Dijon, France., Fitzgerald-Butt S; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indiana University, Indianapolis, IN., Geneviève D; Medical Genetic Department, Rare Diseases and Personalized Medicine, Montpellier University, Inserm U1183, CHU Montpellier, Montpellier, France., Goos JAC; Department of Plastic and Reconstructive Surgery and Hand Surgery, Dutch Craniofacial Center, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands; Department of Bioinformatics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Helm BM; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indiana University, Indianapolis, IN; Department of Epidemiology, Richard M. Fairbanks School of Public Health, Indiana University, Indianapolis, IN., Kini U; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom., Lasa-Aranzasti A; Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital and Medicine Genetics Group, Vall d'Hebron Research Institute, Barcelona, Spain., Lesca G; Service de Génétique, Hospices Civils de Lyon, Bron, France; Institut NeuroMyoGene, CNRS UMR5310, INSERM U1217, Université Claude Bernard Lyon 1, Lyon, France., Lynch SA; Department of Clinical Genetics, Children's Health Ireland at Crumlin and Temple Street, Dublin, Ireland., Mathijssen IMJ; Department of Plastic and Reconstructive Surgery and Hand Surgery, Dutch Craniofacial Center, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., McGowan R; West of Scotland Centre for Genomic Medicine, Queen Elizabeth University Hospital, Scottish Genomes Partnership, Glasgow, United Kingdom., Monaghan KG; GeneDx, Gaithersburg, MD., Odent S; CHU Rennes, Service de Génétique Clinique, Centre de Référence Maladies Rares CLAD-Ouest, ERN ITHACA, Hôpital Sud, Rennes, France., Pfundt R; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands., Putoux A; Service de Génétique - Centre de Référence Anomalies du Développement, Hospices Civils de Lyon, Bron, France; Équipe GENDEV, Centre de Recherche en Neurosciences de Lyon, INSERM U1028 CNRS UMR5292, Université Claude Bernard Lyon 1, Lyon, France., van Reeuwijk J; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands., Santen GWE; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Sasaki E; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom., Sorlin A; Génétique des Anomalies du Développement, Université de Bourgogne Franche-Comté, UMR1231-Inserm, Dijon, France; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est, Centre Hospitalier Universitaire Dijon, Dijon, France., van der Spek PJ; Department of Bioinformatics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Stegmann APA; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht University, Maastricht, The Netherlands., Swagemakers SMA; Department of Bioinformatics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Valenzuela I; Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital and Medicine Genetics Group, Vall d'Hebron Research Institute, Barcelona, Spain., Viora-Dupont E; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est, Centre Hospitalier Universitaire Dijon, Dijon, France., Vitobello A; Génétique des Anomalies du Développement, Université de Bourgogne Franche-Comté, UMR1231-Inserm, Dijon, France; Laboratoire de Génétique Chromosomique et Moléculaire, UF6254 Innovation en Diagnostic Génomique des Maladies Rares, Centre Hospitalier Universitaire de Dijon, Dijon, France., Ware SM; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indiana University, Indianapolis, IN; Department of Pediatrics, Indiana University School of Medicine, Indianapolis, IN., Wéber M; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est, Centre Hospitalier Universitaire Dijon, Dijon, France., Gilissen C; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands; Radboud Institute for Molecular Life Sciences, Radboudumc, Nijmegen, The Netherlands., Low KJ; Department of Clinical Genetics, University Hospital Bristol and Weston NHS Foundation Trust, Bristol, United Kingdom., Fisher SE; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands; Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands., Vissers LELM; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands., Wong MMK; Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands., Kleefstra T; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands; Center of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, The Netherlands.

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2023 Nov; Vol. 25 (11), pp. 100962. Date of Electronic Publication: 2023 Sep 01.

نوع المنشور: Published Erratum

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: PubMed not MEDLINE; MEDLINE

المؤلفون: de Boer E; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands., Ockeloen CW; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands. Electronic address: Charlotte.Ockeloen@radboudumc.nl., Kampen RA; Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands., Hampstead JE; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands; Radboud Institute for Molecular Life Sciences, Radboudumc, Nijmegen, The Netherlands., Dingemans AJM; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands., Rots D; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands., Lütje L; Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands., Ashraf T; Department of Clinical Genetics, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom; Clinical Genetics, Guy's and St Thomas' NHS Foundation Trust, London, United Kingdom., Baker R; Advocate Children's Hospital, Park Ridge, IL., Barat-Houari M; Genetic Laboratory of Rare and Autoinflammatory Diseases, Department of Medical Genetics, Rare Diseases and Personalized Medicine, Centre Hospitalier Universitaire de Montpellier, Montpellier, France., Angle B; Advocate Children's Hospital, Park Ridge, IL., Chatron N; Service de Génétique, Hospices Civils de Lyon, Bron, France; Institut NeuroMyoGene, CNRS UMR5310, INSERM U1217, Université Claude Bernard Lyon 1, Lyon, France., Denommé-Pichon AS; Génétique des Anomalies du Développement, Université de Bourgogne Franche-Comté, UMR1231-Inserm, Dijon, France; Laboratoire de Génétique Chromosomique et Moléculaire, UF6254 Innovation en Diagnostic Génomique des Maladies Rares, Centre Hospitalier Universitaire de Dijon, Dijon, France., Devinsky O; Department of Neurology, NYU Grossman School of Medicine, NYU Langone Health, New York, NY., Dubourg C; Service de Génétique Moléculaire et Génomique Médicale, CHU de Rennes, Rennes, France; University of Rennes, CNRS, IGDR, UMR 6290, Rennes, France., Elmslie F; South West Thames Regional Clinical Genetics Service, St George's Hospital, University of London, London, United Kingdom., Elloumi HZ; GeneDx, Gaithersburg, MD., Faivre L; Génétique des Anomalies du Développement, Université de Bourgogne Franche-Comté, UMR1231-Inserm, Dijon, France; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est, Centre Hospitalier Universitaire Dijon, Dijon, France; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), Centre Hospitalier Universitaire Dijon, Dijon, France., Fitzgerald-Butt S; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indiana University, Indianapolis, IN., Geneviève D; Medical Genetic Department, Rare Diseases and Personalized Medicine, Montpellier University, Inserm U1183, CHU Montpellier, Montpellier, France., Goos JAC; Department of Plastic and Reconstructive Surgery and Hand Surgery, Dutch Craniofacial Center, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands; Department of Bioinformatics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Helm BM; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indiana University, Indianapolis, IN; Department of Epidemiology, Richard M. Fairbanks School of Public Health, Indiana University, Indianapolis, IN., Kini U; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom., Lasa-Aranzasti A; Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital and Medicine Genetics Group, Vall d'Hebron Research Institute, Barcelona, Spain., Lesca G; Service de Génétique, Hospices Civils de Lyon, Bron, France; Institut NeuroMyoGene, CNRS UMR5310, INSERM U1217, Université Claude Bernard Lyon 1, Lyon, France., Lynch SA; Department of Clinical Genetics, Children's Health Ireland at Crumlin and Temple Street, Dublin, Ireland., Mathijssen IMJ; Department of Plastic and Reconstructive Surgery and Hand Surgery, Dutch Craniofacial Center, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., McGowan R; West of Scotland Centre for Genomic Medicine, Queen Elizabeth University Hospital, Scottish Genomes Partnership, Glasgow, United Kingdom., Monaghan KG; GeneDx, Gaithersburg, MD., Odent S; CHU Rennes, Service de Génétique Clinique, Centre de Référence Maladies Rares CLAD-Ouest, ERN ITHACA, Hôpital Sud, Rennes, France., Pfundt R; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands., Putoux A; Service de Génétique - Centre de Référence Anomalies du Développement, Hospices Civils de Lyon, Bron, France; Équipe GENDEV, Centre de Recherche en Neurosciences de Lyon, INSERM U1028 CNRS UMR5292, Université Claude Bernard Lyon 1, Lyon, France., van Reeuwijk J; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands., Santen GWE; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Sasaki E; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom., Sorlin A; Génétique des Anomalies du Développement, Université de Bourgogne Franche-Comté, UMR1231-Inserm, Dijon, France; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est, Centre Hospitalier Universitaire Dijon, Dijon, France., van der Spek PJ; Department of Bioinformatics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Stegmann APA; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht University, Maastricht, The Netherlands., Swagemakers SMA; Department of Bioinformatics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Valenzuela I; Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital and Medicine Genetics Group, Vall d'Hebron Research Institute, Barcelona, Spain., Viora-Dupont E; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est, Centre Hospitalier Universitaire Dijon, Dijon, France., Vitobello A; Génétique des Anomalies du Développement, Université de Bourgogne Franche-Comté, UMR1231-Inserm, Dijon, France; Laboratoire de Génétique Chromosomique et Moléculaire, UF6254 Innovation en Diagnostic Génomique des Maladies Rares, Centre Hospitalier Universitaire de Dijon, Dijon, France., Ware SM; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indiana University, Indianapolis, IN; Department of Pediatrics, Indiana University School of Medicine, Indianapolis, IN., Wéber M; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est, Centre Hospitalier Universitaire Dijon, Dijon, France., Gilissen C; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands; Radboud Institute for Molecular Life Sciences, Radboudumc, Nijmegen, The Netherlands., Low KJ; Department of Clinical Genetics, University Hospital Bristol and Weston NHS Foundation Trust, Bristol, United Kingdom., Fisher SE; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands; Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands., Vissers LELM; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands., Wong MMK; Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands., Kleefstra T; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands; Center of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, The Netherlands.

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Oct; Vol. 24 (10), pp. 2051-2064. Date of Electronic Publication: 2022 Jul 14.

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

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

مواضيع طبية MeSH: Abnormalities, Multiple*/genetics , Bone Diseases, Developmental*/etiology , Bone Diseases, Developmental*/genetics , Intellectual Disability*/genetics , Repressor Proteins*/genetics , Tooth Abnormalities*/diagnosis, Chromosome Deletion ; Facies ; Humans ; Mutation, Missense ; Phenotype ; Proteasome Endopeptidase Complex/genetics ; Transcription Factors/genetics

SCR Disease Name: KBG syndrome

المؤلفون: Choi TM; Department of Oral Maxillofacial Surgery, Special Dental Care and Orthodontics, Dutch Craniofacial Center, Erasmus MC, University Medical Center Rotterdam, The Netherlands., Kramer GJC; Department of Orthodontics, Academic Center for Dentistry Amsterdam, University of Amsterdam and Vrije Universiteit Amsterdam, The Netherlands., Goos JAC; Department of Plastic and Reconstructive Surgery and Hand Surgery, Dutch Craniofacial Center, Erasmus MC, University Medical Center Rotterdam, The Netherlands., Mathijssen IMJ; Department of Plastic and Reconstructive Surgery and Hand Surgery, Dutch Craniofacial Center, Erasmus MC, University Medical Center Rotterdam, The Netherlands., Wolvius EB; Department of Oral Maxillofacial Surgery, Special Dental Care and Orthodontics, Dutch Craniofacial Center, Erasmus MC, University Medical Center Rotterdam, The Netherlands., Ongkosuwito EM; Department of Oral Maxillofacial Surgery, Special Dental Care and Orthodontics, Dutch Craniofacial Center, Erasmus MC, University Medical Center Rotterdam, The Netherlands.

المصدر: European journal of orthodontics [Eur J Orthod] 2022 May 24; Vol. 44 (3), pp. 287-293.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 7909010 Publication Model: Print Cited Medium: Internet ISSN: 1460-2210 (Electronic) Linking ISSN: 01415387 NLM ISO Abbreviation: Eur J Orthod Subsets: MEDLINE

مواضيع طبية MeSH: Acrocephalosyndactylia*/diagnostic imaging , Acrocephalosyndactylia*/surgery , Craniosynostoses*/complications , Craniosynostoses*/diagnostic imaging , Craniosynostoses*/surgery, Basic Helix-Loop-Helix Transcription Factors ; Child ; Child, Preschool ; Humans ; Netherlands ; Syndrome

SCR Disease Name: Muenke Syndrome

المؤلفون: Barrell WB; Centre for Craniofacial and Regenerative Biology, King's College London, London, SE1 9RT, UK., Adel Al-Lami H; Centre for Craniofacial and Regenerative Biology, King's College London, London, SE1 9RT, UK.; Department of Orthodontics, College of Dentistry, University of Baghdad, Baghdad, Iraq., Goos JAC; Department of Plastic and Reconstructive Surgery and Hand Surgery, Erasmus University Medical Centre, Rotterdam, The Netherlands., Swagemakers SMA; Department of Bioinformatics, Erasmus University Medical Centre, Rotterdam, The Netherlands., van Dooren M; Department of Plastic and Reconstructive Surgery and Hand Surgery, Erasmus University Medical Centre, Rotterdam, The Netherlands.; Department of Clinical Genetics, Erasmus University Medical Centre, Rotterdam, The Netherlands., Torban E; Department of Medicine, McGill University Health Centre, Montreal, Canada., van der Spek PJ; Department of Bioinformatics, Erasmus University Medical Centre, Rotterdam, The Netherlands., Mathijssen IMJ; Department of Plastic and Reconstructive Surgery and Hand Surgery, Erasmus University Medical Centre, Rotterdam, The Netherlands., Liu KJ; Centre for Craniofacial and Regenerative Biology, King's College London, London, SE1 9RT, UK. karen.liu@kcl.ac.uk.

المصدر: European journal of human genetics : EJHG [Eur J Hum Genet] 2022 Mar; Vol. 30 (3), pp. 282-290. Date of Electronic Publication: 2021 Nov 01.

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: Craniosynostoses*/diagnosis , Craniosynostoses*/genetics , Hedgehog Proteins*/genetics , Hedgehog Proteins*/metabolism, Cytoskeletal Proteins/*genetics , Intracellular Signaling Peptides and Proteins/*genetics, Animals ; Fibroblasts/metabolism ; Humans ; Mice

المؤلفون: Suratannon N; Department of Immunology, Laboratory Medical Immunology, Erasmus MC, University Medical Center, Rotterdam, Netherlands.; Pediatric Allergy & Clinical Immunology Research Unit, Division of Allergy and Immunology, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, King Chulalongkorn Memorial Hospital, The Thai Red Cross Society, Bangkok, Thailand., van Wijck RTA; Department Internal Medicine, Division of Clinical Immunology, Erasmus MC, University Medical Center, Rotterdam, Netherlands., Broer L; Genetic Laboratory and Human Genomics Facility HuGeF, Department of Internal Medicine, Erasmus MC, University Medical Center, Rotterdam, Netherlands., Xue L; Department Internal Medicine, Division of Clinical Immunology, Erasmus MC, University Medical Center, Rotterdam, Netherlands., van Meurs JBJ; Genetic Laboratory and Human Genomics Facility HuGeF, Department of Internal Medicine, Erasmus MC, University Medical Center, Rotterdam, Netherlands., Barendregt BH; Department of Immunology, Laboratory Medical Immunology, Erasmus MC, University Medical Center, Rotterdam, Netherlands.; Academic Center for Rare Immunological Diseases (Rare Immunological Disease Center, RIDC), Erasmus MC, University Medical Center, Rotterdam, Netherlands., van der Burg M; Laboratory for Immunology, Department of Pediatrics, Leiden University Medical Centre, Leiden, Netherlands., Dik WA; Department of Immunology, Laboratory Medical Immunology, Erasmus MC, University Medical Center, Rotterdam, Netherlands.; Department Internal Medicine, Division of Clinical Immunology, Erasmus MC, University Medical Center, Rotterdam, Netherlands.; Academic Center for Rare Immunological Diseases (Rare Immunological Disease Center, RIDC), Erasmus MC, University Medical Center, Rotterdam, Netherlands., Chatchatee P; Pediatric Allergy & Clinical Immunology Research Unit, Division of Allergy and Immunology, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, King Chulalongkorn Memorial Hospital, The Thai Red Cross Society, Bangkok, Thailand., Langerak AW; Department of Immunology, Laboratory Medical Immunology, Erasmus MC, University Medical Center, Rotterdam, Netherlands.; Academic Center for Rare Immunological Diseases (Rare Immunological Disease Center, RIDC), Erasmus MC, University Medical Center, Rotterdam, Netherlands., Swagemakers SMA; Academic Center for Rare Immunological Diseases (Rare Immunological Disease Center, RIDC), Erasmus MC, University Medical Center, Rotterdam, Netherlands.; Department of Pathology & Clinical Bioinformatics, Erasmus MC, University Medical Center, Rotterdam, Netherlands., Goos JAC; Department of Plastic and Reconstructive Surgery, Erasmus MC, University Medical Center, Rotterdam, Netherlands., Mathijssen IMJ; Department of Plastic and Reconstructive Surgery, Erasmus MC, University Medical Center, Rotterdam, Netherlands., Dalm VASH; Department of Immunology, Laboratory Medical Immunology, Erasmus MC, University Medical Center, Rotterdam, Netherlands.; Department Internal Medicine, Division of Clinical Immunology, Erasmus MC, University Medical Center, Rotterdam, Netherlands.; Academic Center for Rare Immunological Diseases (Rare Immunological Disease Center, RIDC), Erasmus MC, University Medical Center, Rotterdam, Netherlands., Suphapeetiporn K; Center of Excellence for Medical Genomics, Division of Medical Genetics and Metabolism, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.; Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, The Thai Red Cross Society, Bangkok, Thailand., Heezen KC; Department of Immunology, Laboratory Medical Immunology, Erasmus MC, University Medical Center, Rotterdam, Netherlands., Drabwell J; International Patient Organization for Primary Immunodeficiencies (IPOPI), Downderry, United Kingdom., Uitterlinden AG; Genetic Laboratory and Human Genomics Facility HuGeF, Department of Internal Medicine, Erasmus MC, University Medical Center, Rotterdam, Netherlands., van der Spek PJ; Pediatric Allergy & Clinical Immunology Research Unit, Division of Allergy and Immunology, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, King Chulalongkorn Memorial Hospital, The Thai Red Cross Society, Bangkok, Thailand.; Academic Center for Rare Immunological Diseases (Rare Immunological Disease Center, RIDC), Erasmus MC, University Medical Center, Rotterdam, Netherlands.; Laboratory for Immunology, Department of Pediatrics, Leiden University Medical Centre, Leiden, Netherlands., van Hagen PM; Department of Immunology, Laboratory Medical Immunology, Erasmus MC, University Medical Center, Rotterdam, Netherlands.; Pediatric Allergy & Clinical Immunology Research Unit, Division of Allergy and Immunology, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, King Chulalongkorn Memorial Hospital, The Thai Red Cross Society, Bangkok, Thailand.; Department Internal Medicine, Division of Clinical Immunology, Erasmus MC, University Medical Center, Rotterdam, Netherlands.; Academic Center for Rare Immunological Diseases (Rare Immunological Disease Center, RIDC), Erasmus MC, University Medical Center, Rotterdam, Netherlands.

مؤلفون مشاركون: South East Asia Primary Immunodeficiencies (SEAPID) Consortium

المصدر: Frontiers in immunology [Front Immunol] 2020 Apr 15; Vol. 11, pp. 614. Date of Electronic Publication: 2020 Apr 15 (Print Publication: 2020).

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: Genetic Testing/*methods , Genotyping Techniques/*methods , High-Throughput Nucleotide Sequencing/*methods , Primary Immunodeficiency Diseases/*genetics, Costs and Cost Analysis ; DNA Copy Number Variations ; Genotyping Techniques/economics ; Humans ; Polymorphism, Single Nucleotide ; Reproducibility of Results