Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics

Autor: Marianne L. T. van der Sterre, Rachel Schot, Peter J. van der Spek, Daphne Heijsman, Leontine van Unen, Gert-Jan Kremers, Martyna M. Grochowska, Grazia M.S. Mancini, Laura Vandervore, Roy Masius, Gerben J. Schaaf, Martina Wilke, Nadia Bahi-Buisson, Anna Grandone, Renske Oegema, Anna Jansen, Patrick Rump, Arie van Haeringen, Tugba Kalayci, Frans W. Verheijen, Katrien Stouffs, Peter Elfferich, Els A. J. Peeters, Esmee Kasteleijn, Anton J. van Essen, Umut Altunoglu, Alexander Gheldof, Dick H. W. Dekkers, Johan A. Slotman, Jeroen Demmers, Raymond A. Poot, WB Dobyns

Publikováno v: Brain
Brain, 142(4), 867-884. Oxford University Press
Brain, 142, 867-884. Oxford University Press
Brain, 142, 867-884. OXFORD UNIV PRESS

See Uzquiano and Francis (doi:10.1093/brain/awz048) for a scientific commentary on this article. Mutations in RTTN, which encodes Rotatin, give rise to various brain malformations. Vandervore et al. reveal mitotic failure, aneuploidy, apoptosis and d

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de402fcf18fb98f473185220a99962dc
http://europepmc.org/articles/PMC6439326

Subcortical heterotopic gray matter brain malformations : Classification study of 107 individuals

Autor: Renske Oegema, Grazia M.S. Mancini, A. James Barkovich, WB Dobyns, Renzo Guerrini

Publikováno v: Neurology, vol 93, iss 14
Neurology, 93(14), e1360. Lippincott Williams and Wilkins

ObjectiveTo better evaluate the imaging spectrum of subcortical heterotopic gray matter brain malformations (subcortical heterotopia [SUBH]), we systematically reviewed neuroimaging and clinical data of 107 affected individuals.MethodsSUBH is defined

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::45caec094428da6e93031e30f75c61ab
https://doi.org/10.1212/wnl.0000000000008200

A classification scheme for malformations of cortical development

Autor: Ruben Kuzniecky, WB Dobyns, Aj. Barkovich, Graeme D. Jackson, Philippe Evrard, LE Becker

Publikováno v: Neuropediatrics. 27(2)

Malformations of the cerebral cortex are being recognized more frequently as a cause of epilepsy, developmental delay, neurological deficits, and mental retardation. Nonetheless, a standard nomenclature and classification system of these malformation

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c6d4ff1089296a330705434425362d0
https://pubmed.ncbi.nlm.nih.gov/8737819

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations.

Autor: Peron A; Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA. angela.peron@unifi.it.; Medical Genetics, ASST Santi Paolo e Carlo, San Paolo Hospital, Milano, Italy. angela.peron@unifi.it.; Department of Experimental and Clinical Biomedical Sciences, Università degli Studi di Firenze, Firenze, Italy. angela.peron@unifi.it.; Medical Genetics, Meyer Children's Hospital IRCCS, Firenze, Italy. angela.peron@unifi.it., D'Arco F; Department of Radiology, Great Ormond Street Hospital for Children, London, UK., Aldinger KA; Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA.; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA., Smith-Hicks C; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, USA., Zweier C; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland., Gradek GA; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway., Bradbury K; Department of Medical Genetics, Guy's and St. Thomas' NHS Foundation Trust, London, UK.; Wessex Regional Genetics Service, Princess Anne Hospital, Southampton, UK., Accogli A; Genomics and Clinical Genetics, IRCCS Istituto Giannina Gaslini, Genova, Italy.; U.O.C. Genetica Medica, IRCCS Istituto Giannina Gaslini, Genova, Italy., Andersen EF; ARUP Laboratories, Cytogenetics and Genomic Microarray, Salt Lake City, UT, USA.; Department of Pathology, University of Utah, Salt Lake City, UT, USA., Au PYB; Department of Pediatrics, Division of Medical Genetics, Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada., Battini R; IRCCS Fondazione Stella Maris, Pisa, Italy.; Dipartimento di Medicina Clinica e Sperimentale, University of Pisa, Pisa, Italy., Beleford D; Division of Medical Genetics, Department of Pediatrics, Benioff Children's Hospital, University of California, San Francisco, CA, USA.; Department of Pediatrics and Physiology & Membrane Biology, University of California, Davis, CA, USA., Bird LM; Department of Pediatrics, University of California San Diego, San Diego, CA, USA.; Division of Genetics/Dysmorphology, Rady Children's Hospital San Diego, San Diego, CA, USA., Bouman A; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Bruel AL; INSERM UMR 1231 Equipe GAD, Université de Bourgogne, Dijon, France.; Unité Fonctionnelle d'Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Busk ØL; Department of Medical Genetics, Telemark Hospital Trust, 3710, Skien, Norway., Campeau PM; Department of Pediatrics, CHU Sainte-Justine and University of Montreal, Montreal, QC, Canada., Capra V; Genomics and Clinical Genetics, IRCCS Istituto Giannina Gaslini, Genova, Italy., Carlston C; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., Carmichael J; Department of Clinical Genetics, Addenbrooke's Hospital, Cambridge, UK., Chassevent A; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, USA., Clayton-Smith J; Division of Evolution and Genomic Sciences School of Biological Sciences University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK., Bamshad MJ; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA, USA.; University of Washington, Seattle, WA, USA., Earl DL; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA, USA.; University of Washington, Seattle, WA, USA., Faivre L; INSERM UMR 1231 Equipe GAD, Université de Bourgogne, Dijon, France.; Centre de Référence Maladies Rares Anomalies du développement et syndromes malformatifs, Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Philippe C; INSERM UMR 1231 Equipe GAD, Université de Bourgogne, Dijon, France.; Unité Fonctionnelle d'Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Ferreira P; Department of Pediatrics, Division of Medical Genetics, Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada., Graul-Neumann L; Universitätsmedizin Berlin, Institut für Medizinische Genetik und Humangenetik, Berlin, Germany., Green MJ; Experimental Histopathology Laboratory, The Francis Crick Institute, London, UK., Haffner D; Department of Pediatrics, Division of Pediatric Neurology, Nationwide Children's Hospital and Ohio State University, Columbus, OH, USA., Haldipur P; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA., Hanna S; Department of Pediatric Immunology, Rappaport Children's Hospital, Rambam Health Care Campus, Haifa, Israel.; Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa, Israel., Houge G; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway., Jones WD; North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children, Great Ormond Street, London, UK., Kraus C; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany., Kristiansen BE; Department of Neurohabilitation, Oslo University Hospital, Oslo, Norway., Lespinasse J; HDR - Service de Génétique Médicale, Centre Hospitalier Métropole Savoie, Chambery, France., Low KJ; Clinical Genetics Service, University Hospitals Bristol and Weston NHS trust, Bristol, UK., Lynch SA; Department of Clinical Genetics, Children's Health Ireland at Crumlin, Dublin, Ireland., Maia S; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar Universidade de Coimbra, Coimbra, Portugal., Mao R; Department of Pathology, University of Utah, Salt Lake City, UT, USA., Kalinauskiene R; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.; Department of Medical Genetics, Guy's and St. Thomas' NHS Foundation Trust, London, UK., Melver C; Division of Medical Genetics, Akron Children's Hospital, Akron, OH, USA., McDonald K; University of Mississippi Medical Center, Jackson, MS, USA., Montgomery T; Northern Genetics Service, Institute of Genetic Medicine, Newcastle upon Tyne NHS Foundation Trust, Newcastle, UK., Morleo M; Telethon Institute of Genetics and Medicine, Pozzuoli, Napoli, Italy.; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Napoli, Italy., Motter C; Division of Medical Genetics, Akron Children's Hospital, Akron, OH, USA., Openshaw AS; ARUP Laboratories, Cytogenetics and Genomic Microarray, Salt Lake City, UT, USA., Palumbos JC; Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA., Parikh AS; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH, USA.; Center for Human Genetics, University Hospitals Cleveland Medical Center, Cleveland, OH, USA., Perilla-Young Y; Division of Pediatric Genetics and Metabolism, University of North Carolina, Chapel Hill, NC, USA., Powell CM; Division of Pediatric Genetics and Metabolism, University of North Carolina, Chapel Hill, NC, USA., Person R; GeneDx, Gaithersburg, MD, USA., Desai M; GeneDx, Gaithersburg, MD, USA., Piard J; Centre de Génétique Humaine, Université de Franche-Comté, CHU, Besançon, France., Pfundt R; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands., Scala M; U.O.C. Genetica Medica, IRCCS Istituto Giannina Gaslini, Genova, Italy.; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy., Serey-Gaut M; Centre de Génétique Humaine, Université de Franche-Comté, CHU, Besançon, France.; Centre de Recherche en Audiologie, Hôpital Necker, AP-HP. CUP, Paris, France., Shears D; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Slavotinek A; Division of Medical Genetics, Department of Pediatrics, Benioff Children's Hospital, University of California, San Francisco, CA, USA.; Division of Human Genetics, Cincinnati Children's Hospital, and Department of Pediatrics, College of Medicine, University of Cincinnati, Cincinnati, OH, USA., Suri M; Nottingham Clinical Genetics Service; Nottingham University Hospitals NHS Trust, Nottingham, UK., Turner C; Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK., Tvrdik T; Department of Pathology and Laboratory Medicine, Emory University School of Medicine, Atlanta, GA, USA., Weiss K; Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa, Israel.; Genetics Institute, Rambam Health Care Campus, Haifa, Israel., Wentzensen IM; GeneDx, Gaithersburg, MD, USA., Zollino M; Dipartimento Universitario Scienze della Vita e Sanità Pubblica, Sezione di Medicina Genomica, Università Cattolica Sacro Cuore, Roma, Italy.; Genetica Medica, Fondazione Policlinico Universitario A. Gemelli IRCCS, Roma, Italy., Hsieh TC; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany., de Vries BBA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands., Guillemot F; Neural Stem Cell Biology Laboratory, The Francis Crick Institute, London, UK., Dobyns WB; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.; Division of Genetics and Metabolism, Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA., Viskochil D; Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA., Dias C; Department of Medical Genetics, Guy's and St. Thomas' NHS Foundation Trust, London, UK. cristina.dias@kcl.ac.uk.; North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children, Great Ormond Street, London, UK. cristina.dias@kcl.ac.uk.; Neural Stem Cell Biology Laboratory, The Francis Crick Institute, London, UK. cristina.dias@kcl.ac.uk.; Department of Medical & Molecular Genetics, School of Basic and Medical Biosciences, Faculty of Life Sciences & Medicine, King's College London, London, UK. cristina.dias@kcl.ac.uk.

Publikováno v: European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Oct 24. Date of Electronic Publication: 2024 Oct 24.

Delphi Consensus on Diagnostic Criteria for LUMBAR Syndrome.

Autor: Metry D; Department of Dermatology, Texas Children's Hospital, Baylor College of Medicine, Houston, TX., Copp HL; Department of Urology, University of California-San Francisco, San Francisco, CA., Rialon KL; Department of Surgery, Division of Pediatric Surgery, Texas Children's Hospital, Baylor College of Medicine, Houston, TX., Iacobas I; Department of Pediatrics, Cancer and Hematology Centers, Texas Children's Hospital, Baylor College of Medicine, Houston, TX., Baselga E; Department of Dermatology, Hospital San Joan de Deu, Barcelona, Spain., Dobyns WB; Department of Genetics, University of Minnesota, Minneapolis, MN., Drolet B; Department of Dermatology, University of Wisconsin, Madison, WI., Frieden IJ; Department of Dermatology and Pediatrics, University of California, San Francisco, San Francisco, CA., Garzon M; Department of Dermatology and Pediatrics, Columbia University, New York, NY., Haggstrom A; Department of Dermatology, Indiana University, Indianapolis, IN., Hanson D; Department of Orthopedics and Sports Medicine, Houston Methodist Hospital, Houston, TX., Hollenbach L; Department of Gynecology, University of Arkansas, Fayetteville, AR., Keppler-Noreuil KM; Department of Genetics, University of Wisconsin, Madison, WI., Maheshwari M; Department of Radiology, Medical College of Wisconsin, Madison, WI., Siegel DH; Department of Dermatology, Stanford University, Stanford, CA., Waseem S; Department of Gastroenterology, Indiana University School of Medicine, Indianapolis, IN., Dias M; Department of Neurosurgery, Pennsylvania State College of Medicine, Hershey, PA.

Publikováno v: The Journal of pediatrics [J Pediatr] 2024 Sep; Vol. 272, pp. 114101. Date of Electronic Publication: 2024 May 15.