المؤلفون: Kassabian B; Department of Epilepsy Genetics and Precision Medicine, Danish Epilepsy Center Filadelfia, member of the European Reference Network EpiCARE, Dianalund, Denmark.; Neurology Unit, Department of Neurosciences, University of Padua, Padua, Italy., Levy AM; Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Gardella E; Department of Epilepsy Genetics and Precision Medicine, Danish Epilepsy Center Filadelfia, member of the European Reference Network EpiCARE, Dianalund, Denmark.; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark., Aledo-Serrano A; Epilepsy and Neurogenetics Unit, Vithas la Milagrosa University Hospital, Vithas Hospital Group, Madrid, Spain., Ananth AL; Division of Pediatric Neurology, University of Alabama at Birmingham, Birmingham, Alabama, USA., Brea-Fernández AJ; Grupo de Genómica y Bioinformática, Centro Singular de Investigación en Medicina Molecular y Enfermedades Crónicas (CiMUS), Centro de Investigación Biomédica en Red de Enfermedades Raras del Instituto de Salud Carlos III (CIBERER-ISCIII), Universidade de Santiago de Compostela, Santiago de Compostela, Spain.; Grupo de Genética, Fundación Pública Galega de Medicina Xenómica, Instituto de Investigación Biomédica de Santiago (IDIS), Santiago de Compostela, Spain., Caumes R; CHU de Lille, Clinique de Génétique, Lille, France., Chatron N; Service de Genetique, Hospices Civils de Lyon, Bron, France.; Institute NeuroMyoGène, Laboratoire Physiopathologie et Génétique du Neurone et du Muscle, Centre National de la recherche scientifique (CNRS) Unité mixte de recherche (UMR) 5261- L'Institut national de la santé et de la recherche médicale (INSERM) U1315, Université de Lyon-Université Claude Bernard Lyon 1, Lyon, France., Dainelli A; Neuroscience Department, Meyer Children's Hospital IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico), member of the European Reference Network EpiCARE, Florence, Italy., De Wachter M; Department of Pediatric Neurology, Antwerp University Hospital, University of Antwerp, Edegem, Belgium., Denommé-Pichon AS; Functional Unit for Diagnostic Innovation in Rare Diseases, Fédération Hospitalo-Universitaire Médecine TRANSLationnelle et Anomalies du Développement (FHU-TRANSLAD), Dijon Bourgogne University Hospital, Dijon, France.; L'Institut national de la santé et de la recherche médicale (INSERM) Unité mixte de recherche (UMR) 1231, Génétique des Anomalies du Développement (GAD), Fédération Hospitalo-Universitaire Médecine TRANSLationnelle et Anomalies du Développement (FHU-TRANSLAD), University of Burgundy, Dijon, France., Dye TJ; Division of Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA., Fazzi E; Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.; Unit of Child Neurology and Psychiatry, Azienda Socio Sanitaria Territoriale (ASST) Spedali Civili of Brescia, Brescia, Italy., Felt R; Department of Neurology, Kaiser Permanente Bellevue Medical Center, Bellevue, Washington, USA., Fernández-Jaén A; Department of Pediatric Neurology, Neurogenetics Section, Hospital Universitario Quirónsalud, Madrid, Spain.; Facultad de Medicina, Universidad Europea, Madrid, Spain., Fernández-Prieto M; Grupo de Genómica y Bioinformática, Centro Singular de Investigación en Medicina Molecular y Enfermedades Crónicas (CiMUS), Centro de Investigación Biomédica en Red de Enfermedades Raras del Instituto de Salud Carlos III (CIBERER-ISCIII), Universidade de Santiago de Compostela, Santiago de Compostela, Spain.; Grupo de Genética, Fundación Pública Galega de Medicina Xenómica, Instituto de Investigación Biomédica de Santiago (IDIS), Santiago de Compostela, Spain., Gantz E; Division of Pediatric Neurology, University of Alabama at Birmingham, Birmingham, Alabama, USA., Gasperowicz P; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland., Gil-Nagel A; Neurology Department, Epilepsy Program, Ruber Internacional Hospital, Madrid, Spain., Gómez-Andrés D; Child Neurology Unit, Hospital Universitari Vall d'Hebron, Vall d'Hebron Research Institute, Barcelona, Spain., Greiner HM; Division of Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA., Guerrini R; Neuroscience Department, Meyer Children's Hospital IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico), member of the European Reference Network EpiCARE, Florence, Italy., Haanpää MK; Department of Genomics, Turku University Hospital, Turku, Finland., Helin M; Department of Pediatric Neurology, Turku University Hospital, Turku, Finland., Hoyer J; Friedrich-Alexander-Universität Erlangen Nürnberg, Institute of Human Genetics, Erlangen, Germany., Hurst ACE; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA., Kallish S; Division of Translational Medicine and Human Genetics, Department of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Karkare SN; Division of Pediatric Neurology, Department of Pediatrics, Cohen Children's Medical Center, New Hyde Park, New York, USA., Khan A; Department of Zoology, Faculty of Biological Sciences, University of Lakki Marwat, Lakki Marwat, Pakistan.; Institute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Kleinendorst L; Department of Human Genetics, Amsterdam University Medical Center (UMC), University of Amsterdam, Amsterdam, the Netherlands.; Emma Center for Personalized Medicine, Amsterdam University Medical Center (UMC), University of Amsterdam, Amsterdam, the Netherlands., Koch J; University Children's Hospital, Paracelsus Medical University, Salzburg, Austria., Kothare SV; Division of Pediatric Neurology, Department of Pediatrics, Cohen Children's Medical Center, New Hyde Park, New York, USA., Koudijs SM; Department of Neurology, Erasmus Medical Center (MC) Sophia Children's Hospital, Rotterdam, the Netherlands.; Erfelijke Neuro-Cognitieve Ontwikkelingsstoornissen, Rotterdam, Erasmus Medical Center (ENCORE)-GRIN Expertise Center, Rotterdam, the Netherlands., Lagae L; Department of Development and Regeneration, Section Paediatric Neurology, member of the European Reference Network EpiCARE, University Hospitals Leuven, Leuven, Belgium., Lakeman P; Department of Human Genetics, Amsterdam University Medical Center (UMC), University of Amsterdam, Amsterdam, the Netherlands., Leppig KA; Genetic Services, Kaiser Permanente of Washington, Seattle, Washington, USA., Lesca G; Service de Genetique, Hospices Civils de Lyon, Bron, France.; Institute NeuroMyoGène, Laboratoire Physiopathologie et Génétique du Neurone et du Muscle, Centre National de la recherche scientifique (CNRS) Unité mixte de recherche (UMR) 5261- L'Institut national de la santé et de la recherche médicale (INSERM) U1315, Université de Lyon-Université Claude Bernard Lyon 1, Lyon, France., Lopergolo D; Department of Medicine, Surgery, and Neurosciences, University of Siena, Siena, Italy.; Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Stella Maris Foundation, Pisa, Italy., Lusk L; Division of Neurology, Epilepsy Neurogenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Mackenzie A; Research Institute, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.; Faculty of Medicine, University of Ottawa, Ottawa, Ontario, Canada., Mei D; Neuroscience Department, Meyer Children's Hospital IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico), member of the European Reference Network EpiCARE, Florence, Italy., Møller RS; Department of Epilepsy Genetics and Precision Medicine, Danish Epilepsy Center Filadelfia, member of the European Reference Network EpiCARE, Dianalund, Denmark.; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark., Pereira EM; Division of Clinical Genetics, Department of Pediatrics, Columbia University Vagelos College of Physicians and Surgeons and New York-Presbyterian Morgan Stanley Children's Hospital, New York, New York, USA., Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Quelin C; Department of Medical Genetics, CHU de Rennes, Rennes, France., Revah-Politi A; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, New York, USA., Rheims S; Department of Functional Neurology and Epileptology, member of the European Reference Network EpiCARE, Hospices Civils de Lyon and Lyon 1 University, Lyon, France., Rodríguez-Palmero A; Paediatric Neurology Unit, Department of Pediatrics, Hospital Universitari Germans Trias i Pujol, Universitat Autònoma de Barcelona, Barcelona, Spain.; Grupo de Investigación Biomédica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain., Rossi A; Unit of Child Neurology and Psychiatry, Azienda Socio Sanitaria Territoriale (ASST) Spedali Civili of Brescia, Brescia, Italy., Santorelli F; Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Stella Maris Foundation, Pisa, Italy., Seinfeld S; Department of Pediatric Neurology, Neuroscience Center, Joe DiMaggio Children's Hospital, Hollywood, Florida, USA., Sell E; Division of Neurology, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada., Stephenson D; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Szczaluba K; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.; Center of Excellence for Rare and Undiagnosed Diseases, Medical University of Warsaw, Warsaw, Poland., Trinka E; Department of Neurology, Neurointensive Care and Neurorehabilitation, Christian Doppler University Hospital, member of the European Reference Network EpiCARE, Paracelsus Medical University, Center for Cognitive Neuroscience, Salzburg, Austria.; Neuroscience Institute, Christian Doppler University Hospital, member of the European Reference Network EpiCARE, Paracelsus Medical University, Center for Cognitive Neuroscience, Salzburg, Austria., Umair M; Medical Genomics Research Department, King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.; Department of Life Sciences, School of Science, University of Management and Technology, Lahore, Pakistan., Van Esch H; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium., van Haelst MM; Department of Human Genetics, Amsterdam University Medical Center (UMC), University of Amsterdam, Amsterdam, the Netherlands.; Emma Center for Personalized Medicine, Amsterdam University Medical Center (UMC), University of Amsterdam, Amsterdam, the Netherlands., Veenma DCM; Erfelijke Neuro-Cognitieve Ontwikkelingsstoornissen, Rotterdam, Erasmus Medical Center (ENCORE)-GRIN Expertise Center, Rotterdam, the Netherlands.; Department of Pediatrics, Erasmus Medical Center (MC)-Sophia Hospital, Rotterdam, the Netherlands., Weber S; Service de Génétique, Centre Hospitalier Universitaire (CHU) de Caen-Normandie, Caen, France.; Service de Neurologie, Centre Hospitalier Universitaire (CHU) de Caen-Normandie, Caen, France., Weckhuysen S; Applied and Translational Neurogenomics Group, Vlaams Instituut voor Biotechnologie (VIB) Center for Molecular Neurology, Antwerp, Belgium.; Department of Neurology, Antwerp University Hospital, Antwerp, Belgium., Zacher P; Center for Adults with Disability (MZEB), Epilepsy Center Kleinwachau, Radeberg, Germany., Tümer Z; Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark., Rubboli G; Department of Epilepsy Genetics and Precision Medicine, Danish Epilepsy Center Filadelfia, member of the European Reference Network EpiCARE, Dianalund, Denmark.; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.

المصدر: Epilepsia [Epilepsia] 2024 Apr; Vol. 65 (4), pp. 1029-1045. Date of Electronic Publication: 2024 Feb 29.

نوع المنشور: Multicenter Study; Journal Article

بيانات الدورية: Publisher: Blackwell Science Country of Publication: United States NLM ID: 2983306R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1528-1167 (Electronic) Linking ISSN: 00139580 NLM ISO Abbreviation: Epilepsia Subsets: MEDLINE

مواضيع طبية MeSH: Epilepsy*/diagnostic imaging , Epilepsy*/genetics , Epilepsy*/complications , Brain Diseases*/genetics , Epilepsy, Generalized*/complications , Intellectual Disability*/genetics , Intellectual Disability*/complications, Humans ; Retrospective Studies ; Muscle Hypotonia ; Seizures/complications ; Electroencephalography/methods ; Disks Large Homolog 4 Protein/genetics

المؤلفون: van der Vlis TAMB; Department of Neurosurgery, Isala Hospital, Zwolle, The Netherlands.; Department of Neurosurgery, Erasmus Medical Center, Doctor Molewaterplein 40, 3015 GD, Rotterdam, The Netherlands., Boeykens A; Department of Neurosurgery, Erasmus Medical Center, Doctor Molewaterplein 40, 3015 GD, Rotterdam, The Netherlands., Jacobs E; Department of Pediatric Neurology, Juliana Children's Hospital, The Hague, The Netherlands., Veenma DCM; Department of Pediatrics, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.; ENCORE Expertise Center, Erasmus MC, University Medical Center, Rotterdam, The Netherlands., Thompson DNP; Department of Neurosurgery, Great Ormond Street Hospital for Children, London, WC1N 3JH, UK., Bannink N; Department of Pediatrics, Franciscus Gasthuis and Vlietland, Rotterdam and Schiedam, The Netherlands., Joor F; Department of Orthopaedics, Erasmus MC, Rotterdam, The Netherlands., Renkens J; Department of Orthopaedics, Erasmus MC, Rotterdam, The Netherlands., Rutges JPHJ; Department of Orthopaedics, Erasmus MC, Rotterdam, The Netherlands., Harhangi BS; Department of Neurosurgery, Erasmus Medical Center, Doctor Molewaterplein 40, 3015 GD, Rotterdam, The Netherlands.; Department of Neurosurgery, Park Medical Center, Rotterdam, The Netherlands., Spoor JKH; Department of Neurosurgery, Erasmus Medical Center, Doctor Molewaterplein 40, 3015 GD, Rotterdam, The Netherlands. j.spoor@erasmusmc.nl.

المصدر: Spine deformity [Spine Deform] 2024 Mar; Vol. 12 (2), pp. 507-511. Date of Electronic Publication: 2023 Dec 14.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Springer Nature Country of Publication: England NLM ID: 101603979 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2212-1358 (Electronic) Linking ISSN: 2212134X NLM ISO Abbreviation: Spine Deform Subsets: MEDLINE

مواضيع طبية MeSH: Abnormalities, Multiple*/surgery , Spinal Cord Injuries*/complications, Humans ; Siblings ; Cervical Vertebrae/diagnostic imaging ; Cervical Vertebrae/surgery ; Cervical Vertebrae/abnormalities

المؤلفون: Rigter PMF; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam 3015 GD, the Netherlands; ENCORE Expertise Centre for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam 3015 GD, the Netherlands., de Konink C; ENCORE Expertise Centre for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam 3015 GD, the Netherlands; Department of Neuroscience, Erasmus Medical Center, Rotterdam 3015 GD, the Netherlands., Dunn MJ; Department of Biochemistry and Molecular Biology, University of Massachusetts, Amherst, MA 01003, USA., Proietti Onori M; ENCORE Expertise Centre for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam 3015 GD, the Netherlands; Department of Neuroscience, Erasmus Medical Center, Rotterdam 3015 GD, the Netherlands., Humberson JB; Pediatric Specialty Care, University of Virginia Health, Charlottesville, VA 22903, USA., Thomas M; Division of Genetics, Department of Pediatrics, University of Virginia Children's, Charlottesville, VA 22903, USA., Barnes C; Division of Genetics, Department of Pediatrics, University of Virginia Children's, Charlottesville, VA 22903, USA., Prada CE; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA; Division of Genetics, Genomics, and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA; Fundacion Cardiovascular de Colombia, Bucaramanga, Colombia., Weaver KN; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45267, USA; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA., Ryan TD; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45267, USA; Heart Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA., Caluseriu O; Department of Medical Genetics, University of Alberta, Edmonton, AB T6G 2H7, Canada; Stollery Children's Hospital, Department of Medical Genetics, University of Alberta, Edmonton, AB T6G 2B7, Canada., Conway J; Stollery Children's Hospital, Department of Pediatrics, Division of Pediatric Cardiology, University of Alberta, Edmonton, AB T6G 2B7, Canada., Calamaro E; Department of Pediatrics, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642, USA., Fong CT; Department of Pediatrics, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642, USA., Wuyts W; Department of Medical Genetics, University of Antwerp and University Hospital of Antwerp, 2650 Edegem, Belgium., Meuwissen M; Department of Medical Genetics, University of Antwerp and University Hospital of Antwerp, 2650 Edegem, Belgium., Hordijk E; Department of Neuroscience, Erasmus Medical Center, Rotterdam 3015 GD, the Netherlands., Jonkers CN; Department of Neuroscience, Erasmus Medical Center, Rotterdam 3015 GD, the Netherlands., Anderson L; Department of Neuroscience, Erasmus Medical Center, Rotterdam 3015 GD, the Netherlands., Yuseinova B; Department of Neuroscience, Erasmus Medical Center, Rotterdam 3015 GD, the Netherlands., Polonia S; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam 3015 GD, the Netherlands., Beysen D; Department of Paediatric Neurology, University Hospital of Antwerp, 2650 Edegem, Belgium; Department of Translational Neurosciences, University of Antwerp, 2650 Edegem, Belgium., Stark Z; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Australian Genomics, Melbourne, VIC 3052, Australia., Savva E; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia., Poulton C; Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, WA 6008, Australia., McKenzie F; Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, WA 6008, Australia; School of Paediatrics and Child Health, University of Western Australia, Perth, WA 6009, Australia., Bhoj E; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Bupp CP; Corewell Health & Helen DeVos Children's Hospital, Grand Rapids, MI 49503, USA., Bézieau S; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France., Mercier S; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France., Blevins A; GeneDx, Gaithersburg, MD 20877, USA., Wentzensen IM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Xia F; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics Laboratories, Houston, TX 77021, USA., Hsieh TC; Institute for Genomic Statistics and Bioinformatics, University of Bonn, 53127 Bonn, Germany., Krawitz PM; Institute for Genomic Statistics and Bioinformatics, University of Bonn, 53127 Bonn, Germany., Elbracht M; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, 52074 Aachen, Germany., Veenma DCM; ENCORE Expertise Centre for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam 3015 GD, the Netherlands; Sophia Children's Hospital, Erasmus Medical Center, Rotterdam 3015 CN, the Netherlands., Schulman H; Department of Neurobiology, Stanford University, School of Medicine, Stanford, CA 94305, USA; Panorama Research Institute, Sunnyvale, CA 94089, USA., Stratton MM; Department of Biochemistry and Molecular Biology, University of Massachusetts, Amherst, MA 01003, USA., Küry S; Corewell Health & Helen DeVos Children's Hospital, Grand Rapids, MI 49503, USA; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France. Electronic address: sebastien.kury@chu-nantes.fr., van Woerden GM; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam 3015 GD, the Netherlands; ENCORE Expertise Centre for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam 3015 GD, the Netherlands; Department of Neuroscience, Erasmus Medical Center, Rotterdam 3015 GD, the Netherlands. Electronic address: g.vanwoerden@erasmusmc.nl.

المصدر: American journal of human genetics [Am J Hum Genet] 2024 Feb 01; Vol. 111 (2), pp. 364-382. Date of Electronic Publication: 2024 Jan 24.

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

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Calcium-Calmodulin-Dependent Protein Kinase Type 2*/genetics , Calcium-Calmodulin-Dependent Protein Kinase Type 2*/metabolism , Cardiomyopathy, Dilated* , Intellectual Disability* , Neurodevelopmental Disorders*/genetics, Animals ; Humans ; Mice ; Heart

المؤلفون: van der Lugt NM; Department of Pediatrics, Erasmus MC Sophia, Rotterdam, The Netherlands., Weerts MJA; Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands., Veenma DCM; Department of Pediatrics, Erasmus MC Sophia, Rotterdam, The Netherlands., Lincke CR; Department of Pediatrics, Erasmus MC Sophia, Rotterdam, The Netherlands., Gischler SJ; Department of Pediatric Surgery, Erasmus MC Sophia, Rotterdam, The Netherlands., Alders M; Department of Human Genetics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands., van Ierland Y; Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2023 Mar; Vol. 191 (3), pp. 835-841. Date of Electronic Publication: 2022 Dec 02.

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

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

مواضيع طبية MeSH: Sotos Syndrome*/genetics , Abnormalities, Multiple*/genetics , Dwarfism* , Microcephaly*/diagnosis , Microcephaly*/genetics, Male ; Female ; Humans ; Mothers ; Phenotype

المؤلفون: Dwyer BK; Department of Maternal Fetal Medicine and Genetics, Palo Alto Medical Foundation, Mountain View, CA, United States., Veenma DCM; Department of Pediatrics, Erasmus MC, University Medical Center, Rotterdam, Netherlands.; ENCORE Expertise Center, Erasmus MC, University Medical Center, Rotterdam, Netherlands., Chang K; University of Texas Houston Health Science Center, Houston, TX, United States., Schulman H; Department of Neurobiology, Stanford University, School of Medicine, Stanford, CA, United States.; Panorama Research Institute, Sunnyvale, CA, United States., Van Woerden GM; ENCORE Expertise Center, Erasmus MC, University Medical Center, Rotterdam, Netherlands.; Department of Neuroscience, Erasmus MC, University Medical Center, Rotterdam, Netherlands.; Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, Netherlands.

المصدر: Frontiers in pharmacology [Front Pharmacol] 2022 May 10; Vol. 13, pp. 794008. Date of Electronic Publication: 2022 May 10 (Print Publication: 2022).

نوع المنشور: Case Reports

بيانات الدورية: Publisher: Frontiers Media] Country of Publication: Switzerland NLM ID: 101548923 Publication Model: eCollection Cited Medium: Print ISSN: 1663-9812 (Print) Linking ISSN: 16639812 NLM ISO Abbreviation: Front Pharmacol Subsets: PubMed not MEDLINE

المؤلفون: Brosens E; Department of Clinical Genetics, Erasmus MC Sophia Children's Hospital, Rotterdam, Netherlands., Peters NCJ; Division of Obstetrics and Fetal Medicine, Department of Obstetrics and Gynecology, Erasmus MC Sophia Children's Hospital, Rotterdam, Netherlands., van Weelden KS; Department of Clinical Genetics, Erasmus MC Sophia Children's Hospital, Rotterdam, Netherlands.; Division of Obstetrics and Fetal Medicine, Department of Obstetrics and Gynecology, Erasmus MC Sophia Children's Hospital, Rotterdam, Netherlands.; Department of Pediatric Surgery and Intensive Care, Erasmus MC Sophia Children's Hospital, Rotterdam, Netherlands., Bendixen C; Unit of Pediatric Surgery, Department of General, Visceral, Vascular and Thoracic Surgery, University Hospital Bonn, Bonn, Germany., Brouwer RWW; Center for Biomics, Erasmus MC Sophia Children's Hospital, Rotterdam, Netherlands.; Department of Cell Biology, Erasmus MC Sophia Children's Hospital, Rotterdam, Netherlands., Sleutels F; Department of Clinical Genetics, Erasmus MC Sophia Children's Hospital, Rotterdam, Netherlands., Bruggenwirth HT; Department of Clinical Genetics, Erasmus MC Sophia Children's Hospital, Rotterdam, Netherlands., van Ijcken WFJ; Center for Biomics, Erasmus MC Sophia Children's Hospital, Rotterdam, Netherlands.; Department of Cell Biology, Erasmus MC Sophia Children's Hospital, Rotterdam, Netherlands., Veenma DCM; Department of Clinical Genetics, Erasmus MC Sophia Children's Hospital, Rotterdam, Netherlands.; Department of Pediatrics, Erasmus MC Sophia Children's Hospital, Rotterdam, Netherlands., Otter SCMC; Department of Pediatric Surgery and Intensive Care, Erasmus MC Sophia Children's Hospital, Rotterdam, Netherlands., Wijnen RMH; Department of Pediatric Surgery and Intensive Care, Erasmus MC Sophia Children's Hospital, Rotterdam, Netherlands., Eggink AJ; Division of Obstetrics and Fetal Medicine, Department of Obstetrics and Gynecology, Erasmus MC Sophia Children's Hospital, Rotterdam, Netherlands., van Dooren MF; Department of Clinical Genetics, Erasmus MC Sophia Children's Hospital, Rotterdam, Netherlands., Reutter HM; Institute of Human Genetics, University Hospital of Bonn, Bonn, Germany.; Neonatology and Pediatric Intensive Care, Department of Pediatrics and Adolescent Medicine, University Hospital Erlangen, Erlangen, Germany., Rottier RJ; Department of Pediatric Surgery and Intensive Care, Erasmus MC Sophia Children's Hospital, Rotterdam, Netherlands.; Department of Cell Biology, Erasmus MC Sophia Children's Hospital, Rotterdam, Netherlands., Schnater JM; Department of Pediatric Surgery and Intensive Care, Erasmus MC Sophia Children's Hospital, Rotterdam, Netherlands., Tibboel D; Department of Pediatric Surgery and Intensive Care, Erasmus MC Sophia Children's Hospital, Rotterdam, Netherlands., de Klein A; Department of Clinical Genetics, Erasmus MC Sophia Children's Hospital, Rotterdam, Netherlands.

المصدر: Frontiers in pediatrics [Front Pediatr] 2022 Feb 03; Vol. 9, pp. 800915. Date of Electronic Publication: 2022 Feb 03 (Print Publication: 2021).

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Frontiers Media SA Country of Publication: Switzerland NLM ID: 101615492 Publication Model: eCollection Cited Medium: Print ISSN: 2296-2360 (Print) Linking ISSN: 22962360 NLM ISO Abbreviation: Front Pediatr Subsets: PubMed not MEDLINE