Johanna M van Hagen

Johanna M van Hagen

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Johanna M van Hagen

Johanna M van Hagen

Publications by authors named "Johanna M van Hagen"

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encephalopathy: A distinctive generalized developmental and epileptic encephalopathy.

Neurology 2019 Jan 12;92(2):e96-e107. Epub 2018 Dec 12.

From the Epilepsy Research Centre (D.R.M.V., B.J.S., R.B., M.F.B., S.F.B., M.S.H., I.E.S.), Department of Medicine, University of Melbourne, Austin Health, Australia; Departments of Genetics (D.R.M.V., C.M.A.v.R.-A.) and Neurology (D.R.M.V.), University Medical Center Groningen, University of Groningen, the Netherlands; Pediatric Neurology Unit and Laboratories (D.M., M.M.) and Pediatric Neurology (R.G.), Neurogenetics and Neurobiology Unit and Laboratories, A. Meyer Children's Hospital, University of Florence, Italy; Department of Pediatrics and Pediatric Epilepsy Centre (H.X., W.X.W., Y.J.), Peking University First Hospital, Beijing, China; Department of Pediatrics (C.T.M., H.C.M.), Division of Genetic Medicine, University of Washington, Seattle; Population Health and Immunity Division (M.F.B.), Walter and Eliza Hall Institute of Medical Research, Melbourne, Australia; Department of Medical Biology (M.F.B.), University of Melbourne, Australia; Caulfield (D.W.), Melbourne, Australia; Department of Clinical Genetics (S.M.M.), Academic Medical Centre, Amsterdam, the Netherlands; Department of Clinical Genetics (A.S.B., G.M.S.M., I.M.B.H.v.d.L.), Erasmus University Medical Centre, Rotterdam, the Netherlands; Department of Clinical Genetics (J.M.v.H.), VU University Medical Center, Amsterdam, the Netherlands; Tasmanian Health Service (T.L.W.), Women's and Children's Services, Launceston General Hospital, Tasmania, Australia; TY Nelson Department of Neurology and Neurosurgery (R.I.W.) and Institute of Neuroscience and Muscle Research (R.I.W.), Children's Hospital at Westmead, Sydney, Australia; Department of Neurosciences (S.M.), Lady Cilento Children's Hospital, Brisbane, Australia; Department of Anatomical Pathology (R.M.K.), Austin Hospital, Melbourne, Australia; IRCCS Stella Maris Foundation (F.S., R.G.), Pisa, Italy; Klinikum Oldenburg (G.C.K.), Zentrum für Kinder-und Jugendmedizin, Klinik für Neuropädiatrie u. angeborene Stoffwechselerkrankungen, Oldenburg, Germany; Centre of Epilepsy (Y.J.), Beijing Institute for Brain Disorders, China; Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Australia; and Florey Institute of Neurosciences and Mental Health (I.E.S.), Parkville, Australia.

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http://www.neurology.org/lookup/doi/10.1212/WNL.000000000000
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http://dx.doi.org/10.1212/WNL.0000000000006729DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6340340PMC
January 2019

High-sensitivity sequencing reveals multi-organ somatic mosaicism causing DICER1 syndrome.

J Med Genet 2016 Jan 16;53(1):43-52. Epub 2015 Oct 16.

Department of Human Genetics, McGill University, Montréal, Québec, Canada Lady Davis Institute, Segal Cancer Centre, Jewish General Hospital, Montréal, Québec, Canada Department of Medical Genetics, Research Institute of the McGill University Health Centre, Montréal, Québec, Canada Program in Cancer Genetics, Department of Oncology and Human Genetics, McGill University, Montréal, Québec, Canada.

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http://dx.doi.org/10.1136/jmedgenet-2015-103428DOI Listing
January 2016

Birth prevalence of Robin sequence in the Netherlands from 2000-2010: a retrospective population-based study in a large Dutch cohort and review of the literature.

Am J Med Genet A 2015 Sep 21;167A(9):1972-82. Epub 2015 May 21.

Department of Plastic, Reconstructive and Hand Surgery, Wilhelmina Children's Hospital, Utrecht, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.37150DOI Listing
September 2015

Etiology and pathogenesis of robin sequence in a large Dutch cohort.

Am J Med Genet A 2015 Sep 31;167A(9):1983-92. Epub 2015 May 31.

Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.37154DOI Listing
September 2015

Variable phenotypic manifestation of IRF6 mutations in the Van der Woude syndrome and popliteal pterygium syndrome: implications for genetic counseling.

Clin Dysmorphol 2009 Oct;18(4):225-7

Department of Clinical Genetics and Human Genetics, VU University Medical Center, ACTA, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1097/MCD.0b013e32832d4a87DOI Listing
October 2009

Cellular and clinical impact of haploinsufficiency for genes involved in ATR signaling.

Am J Hum Genet 2007 Jul 17;81(1):77-86. Epub 2007 May 17.

Genome Damage and Stability Centre, University of Sussex, Brighton, UK.

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http://dx.doi.org/10.1086/518696DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1950915PMC
July 2007

Segregation ratio in cranio-cerebello-cardiac syndrome.

Eur J Hum Genet 2006 Sep 31;14(9):1054-7. Epub 2006 May 31.

Department of Clinical Genetics and Human Genetics, VU University Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1038/sj.ejhg.5201660DOI Listing
September 2006

R561C missense mutation in the SMARCAL1 gene associated with mild Schimke immuno-osseous dysplasia.

Pediatr Nephrol 2005 Dec 20;20(12):1724-8. Epub 2005 Oct 20.

Department of Pediatrics, Vrije University Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/s00467-005-2047-xDOI Listing
December 2005

Homozygous and compound heterozygous mutations in ZMPSTE24 cause the laminopathy restrictive dermopathy.

J Invest Dermatol 2005 Nov;125(5):913-9

Department of Internal Medicine, Renal Division, Washington University School of Medicine, St Louis, Missouri 63110, USA.

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http://dx.doi.org/10.1111/j.0022-202X.2005.23846.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1360172PMC
November 2005

A homozygous MSH6 mutation in a child with café-au-lait spots, oligodendroglioma and rectal cancer.

Fam Cancer 2004 ;3(2):123-7

Department of Clinical Genetics and Human Genetics, VU University Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1023/B:FAME.0000039893.19289.18DOI Listing
November 2004