Rosalina van Spaendonk

Rosalina van Spaendonk

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Rosalina van Spaendonk

Rosalina van Spaendonk

Publications by authors named "Rosalina van Spaendonk"

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Blepharophimosis-ptosis-epicanthus inversus syndrome caused by a 54-kb microdeletion in a FOXL2 cis-regulatory element.

Clin Dysmorphol 2018 Apr;27(2):58-62

Department of Clinical Genetics, VU University Medical Center, Amsterdam.

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http://dx.doi.org/10.1097/MCD.0000000000000216DOI Listing
April 2018

Diffuse hypomyelination is not obligate for POLR3-related disorders.

Neurology 2016 Apr 30;86(17):1622-6. Epub 2016 Mar 30.

From the Laboratory of Neurogenetics of Motion (R.L.P.) and Department of Neuroradiology (R.L.P.), Montreal Neurological Institute and Hospital, and the Departments of Neurology and Neurosurgery (R.L.P., L.T.T., K.G., G.B.) and Pediatrics (R.L.P., L.T.T., K.G., G.B.), McGill University, Montreal, Canada; Departments of Child Neurology (F.K.C., M.S.v.d.K., N.I.W.) and Clinical Genetics (F.K.C., R.v.S.), VU University Medical Center, Amsterdam, the Netherlands; Department of Genetics (K.Õ.) United Laboratories, Tartu University Hospital, Tartu; Department of Pediatrics (K.Õ.), University of Tartu, Estonia; Institute of Human Genetics (T.H.), Technische Universität München; Institute of Human Genetics (T.H.), Helmholtz Zentrum München, Munich, Germany; Department of Neurology (E.W.), Birmingham Children's Hospital, UK; Department of Neurology (D.T.), University Clinic Essen, University of Duisburg-Essen, Germany; Department of Child and Adolescent Neurology (H.M.), Institute of Mother and Child, Warsaw, Poland; Department of Child Neurology (B.T.P.), AMC Academic Medical Center, Amsterdam, the Netherlands; West Midlands Regional Clinical Genetics Unit (C.P., H.C.), Birmingham Women's Hospital, UK; Departments of Pediatrics (T.A.) and Medical Genetics (H.O.), Faculty of Medicine (F.O.), Ege University, Izmir, Turkey; Department of Neurology (A.V.), Children's National Health System, Washington, DC; Neuroscience Campus Amsterdam (M.S.v.d.K., N.I.W.), the Netherlands; and Department of Medical Genetics (G.B.), Montreal Children's Hospital, McGill University Health Center, Montreal, Canada.

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http://dx.doi.org/10.1212/WNL.0000000000002612DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4844237PMC
April 2016

Interferon-α and the calcifying microangiopathy in Aicardi-Goutières syndrome.

Ann Clin Transl Neurol 2015 Jul 4;2(7):774-9. Epub 2015 Jun 4.

Department of Pediatrics/Child Neurology, Neuroscience Campus Amsterdam, VU University Medical Centre Amsterdam, The Netherlands ; Department of Pathology, Neuroscience Campus Amsterdam, VU University Medical Centre Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/acn3.213DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4531060PMC
July 2015

POLR3A and POLR3B Mutations in Unclassified Hypomyelination.

Neuropediatrics 2015 Jun 8;46(3):221-8. Epub 2015 May 8.

Department of Child Neurology, VU University Medical Center, Amsterdam, The Netherlands.

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http://www.thieme-connect.de/DOI/DOI?10.1055/s-0035-1550148
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http://dx.doi.org/10.1055/s-0035-1550148DOI Listing
June 2015

Large exonic deletions in POLR3B gene cause POLR3-related leukodystrophy.

Orphanet J Rare Dis 2015 Jun 5;10:69. Epub 2015 Jun 5.

Departments of Pediatrics, Neurology and Neurosurgery, Montreal Children's Hospital, McGill University Health Center, 1001 Boulevard Décarie, Montréal, QC, H4A 3J1, Canada.

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http://dx.doi.org/10.1186/s13023-015-0279-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4520020PMC
June 2015

Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations.

Neurology 2014 Nov 22;83(21):1898-905. Epub 2014 Oct 22.

From the Departments of Child Neurology (N.I.F., M.B., M.S.v.d.K.), Clinical Genetics (R.M.L.v.S., E.S.), and Pathology (M.B.), Neuroscience Campus (N.I.F., M.B., M.S.v.d.K.), and the Department of Functional Genomics, Center for Neurogenomics and Cognitive Research (M.S.v.d.K.), VU University Medical Center, Amsterdam, the Netherlands; the Center for Genetic Medicine Research, Department of Neurology (A.V., A.P.), Children's National Medical Center, Washington, DC; the Institute of Metabolic Disease (R.S.), Baylor Research Institute, Dallas, TX; the Departments of Neurology and Neurosurgery and Human Genetics (B.B.), Montreal Neurological Institute, Canada; the Department of Paediatric Neurology (C.C.-B.), Erasmus University Hospital-Sophia Children's Hospital; the Department of Pathology (J.M.K.), Erasmus Medical Center, Rotterdam, the Netherlands; the Neuroradiology Department (P.S.P.), Centro Hospitalar do Porto, Portugal; the Division of Neurology (D.P.), Children's Hospital of Eastern Ontario, University of Ottawa, Canada; the Department of Paediatric Neurology (S.T.), Royal Belfast Hospital for Sick Children, UK; the Department of Clinical Neurosciences for Children (P.S.), Oslo University Hospital, Ullevål; University of Oslo (P.S.), Norway; the Department of Neurology (T.d.G.), Cincinnati School of Medicine and Cincinnati Children's Hospital Medical Center, OH; INSERM-IECB (S.F.), Pessac, France; the Department of Pediatric Neurology (M.D.), University of British Columbia and British Columbia Children's Hospital, Vancouver, Canada; Kennedy Krieger Institute/Johns Hopkins Medical Institutions (S.N.), Baltimore, MD; and the Departments of Pediatrics, Neurology, and Neurosurgery, Division of Pediatric Neurology (K.G., G.B.), Montreal Children's Hospital, McGill University Health Center, Montreal, Canada.

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http://dx.doi.org/10.1212/WNL.0000000000001002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4248461PMC
November 2014

Genetic subtyping of Fanconi anemia by comprehensive mutation screening.

Hum Mutat 2008 Jan;29(1):159-66

Department of Clinical Genetics, Vrije Universiteit Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/humu.20625DOI Listing
January 2008

High-resolution mapping of molecular events associated with immortalization, transformation, and progression to breast cancer in the MCF10 model.

Breast Cancer Res Treat 2006 Mar;96(2):177-86

Department of Otolaryngology, Head and Neck Surgery, Wayne State School of Medicine, Henry Ford Hospital, Detroit, MI 48202, USA.

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http://dx.doi.org/10.1007/s10549-005-9077-8DOI Listing
March 2006

Novel inactivating mutations of FANCC in Brazilian patients with Fanconi anemia.

Hum Mutat 2006 Feb;27(2):214

Oregon Health and Science University Cancer Institute, Portland, Oregon 97239, USA.

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http://dx.doi.org/10.1002/humu.9402DOI Listing
February 2006