Publications by authors named "Marielle Swinkels"

16Publications

Loss-of-function variants of in intellectual disability without seizures.

Neurol Genet 2017 Aug 7;3(4):e170. Epub 2017 Jun 7.

Department of Human Genetics (J.L.W., Y.P., M.H.M.), University of Michigan, Ann Arbor; Department of Anesthesiology (B.S.B., M.O., M.K.P.) and Neuroscience Graduate Program (B.S.B., M.K.P.), University of Virginia, Charlottesville; Department of Medicine (A.V.), Veterans Affairs Medical Center (A.V.), and Department of Pediatrics (P.V.), Duke University, Durham, NC; and Department of Medical Genetics (M.E.M.S.), University Medical Centre Utrecht, the Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/NXG.0000000000000170DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5499976PMC
August 2017

Mutations in GABRB3: From febrile seizures to epileptic encephalopathies.

Neurology 2017 01 4;88(5):483-492. Epub 2017 Jan 4.

From the Danish Epilepsy Centre (R.S.M., K.M.J., M.N.), Dianalund; Institute for Regional Health Services (R.S.M., K.M.J., M.N.), University of Southern Denmark, Odense; Department of Neurology and Epileptology (T.V.W., S.V., H.L., S.M.), Hertie Institute for Clinical Brain Research, and Department of Neurosurgery (T.V.W.), University of Tübingen; Department of Neuropediatrics (I.H., M.P., S.v.S., H.M.), University Medical Center Schleswig-Holstein, Kiel, Germany; Division of Neurology (I.H., S.H., H.D.), The Children's Hospital of Philadelphia, PA; Neuroscience Department (C.M., R.G.), Children's Hospital Anna Meyer-University of Florence, Italy; Department of Genetics (E.H.B., M.S., K.L.v.G.), University Medical Center Utrecht, the Netherlands; Department of Neurology and Neurorehabilitation (U.V., I.T., T.T.), Children's Clinic of Tartu University Hospital, Estonia; Department of Pediatric Neurology and Epilepsy Center (I.B.), LMU Munich, Germany; Department of Pediatrics (I.T., T.T.), University of Tartu; Tallinn Children's Hospital (I.T.), Tallinn, Estonia; Clinic for Neuropediatrics and Neurorehabilitation (G.K., C.B., H.H.), Epilepsy Center for Children and Adolescents, Schön Klinik Vogtareuth, Germany; Paracelsus Medical Private University (G.K.), Salzburg, Austria; Neuropeadiatric Department (L.L.F.), Hospices Civils de Lyon; Department of Genetics (G.L., N.C.), Lyon University Hospitals; Claude Bernard Lyon I University (G.L., N.C.); Lyon Neuroscience Research Centre (G.L., N.C.), CNRS UMR5292, INSERM U1028; Epilepsy, Sleep and Pediatric Neurophysiology Department (J.d.B.), Lyon University Hospitals, France; Clinic for Pediatric Neurology (S.B.), Pediatric Department, University Hospital, Herlev, Denmark; Kleinwachau (N.H.), Sächsisches Epilepsiezentrum Radeberg, Dresden; Department of Neuropediatrics/Epilepsy Center (J.J.), University Medical Center Freiburg; Department of General Paediatrics (S.S.), Division of Child Neurology and Inherited Metabolic Diseases, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg; Department of Women and Child Health (S.S.), Hospital for Children and Adolescents, University of Leipzig Hospitals and Clinics, Germany; Department of Pediatrics (C.T.M., H.C.M.), Division of Genetic Medicine, University of Washington, Seattle; Amplexa Genetics (L.H.G.L., H.A.D.), Odense, Denmark; Northern German Epilepsy Center for Children and Adolescents (S.v.S.), Schwentinental-Raisdorf, Germany; Wilhelm Johannsen Centre for Functional Genome Research (Y.M., N.T.), Department of Cellular and Molecular Medicine, University of Copenhagen; Danish Epilepsy Center (G.R.), Filadelfia/University of Copenhagen, Denmark; Department of Diagnostics (J.R.L.), Institute of Human Genetics, University of Leipzig; and Svt. Luka's Institute of Child Neurology and Epilepsy (K.M.), Moscow, Russia. Dr Maljevic is currently at the Florey Institute of Neuroscience and Mental Health, Melbourne, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000003565DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5278942PMC
January 2017

Generalized Epilepsy and Myoclonic Seizures in 22q11.2 Deletion Syndrome.

Mol Syndromol 2016 Sep 24;7(4):239-246. Epub 2016 Aug 24.

Institute of Human Genetics, University Hospital and Clinics, Leipzig, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000448445DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5073659PMC
September 2016

Central 22q11.2 deletions.

Am J Med Genet A 2014 Nov 14;164A(11):2707-23. Epub 2014 Aug 14.

University of Groningen, University Medical Centre Groningen, Department of Genetics, Groningen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.36711DOI Listing
November 2014

Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome.

Am J Hum Genet 2012 Dec 15;91(6):1122-7. Epub 2012 Nov 15.

Department of Human Genetics 855, Nijmegen Centre for Molecular Life Sciences and Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2012.10.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3516611PMC
December 2012

Unstable transmission of a familial complex chromosome rearrangement.

Am J Med Genet A 2012 Nov 17;158A(11):2888-93. Epub 2012 Sep 17.

Section of Genome Diagnostics, Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.35580DOI Listing
November 2012