Publications by authors named "Margje Sinnema"

22Publications

Acute encephalopathy after head trauma in a patient with a RHOBTB2 mutation.

Neurol Genet 2020 Jun 1;6(3):e418. Epub 2020 Apr 1.

Department of Neurology (A.C.S.K., J.N.), Maastricht University Medical Center, Maastricht; Department of Pediatrics (L.A.B.), Màxima Medical Center, Veldhoven; and Department of Clinical Genetics (A.B., A.P.A.S., M.S., M.V.), Maastricht University Medical Center, Maastricht, the Netherlands.

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http://dx.doi.org/10.1212/NXG.0000000000000418DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7164965PMC
June 2020

Loss-of-function zinc finger mutation in the gene associated with erythrocytosis.

Blood 2018 09 15;132(13):1455-1458. Epub 2018 Aug 15.

Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.

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http://www.bloodjournal.org/lookup/doi/10.1182/blood-2018-06
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http://dx.doi.org/10.1182/blood-2018-06-854711DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6161772PMC
September 2018

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.

Am J Hum Genet 2018 06 31;102(6):1195-1203. Epub 2018 May 31.

Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, UK; Craniofacial Unit, Oxford University Hospitals NHS Trust, John Radcliffe Hospital, Oxford OX3 9DU, UK. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183016
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http://dx.doi.org/10.1016/j.ajhg.2018.04.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5992133PMC
June 2018

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.

Am J Hum Genet 2018 05 12;102(5):995-1007. Epub 2018 Apr 12.

Centre de Génétique Médicale, Centre de Référence "Déficiences Intellectuelles de causes rares," CHU de Dijon Bourgogne, 21079 Dijon, France; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), CHU de Dijon Bourgogne, 21079 Dijon, France; Inserm UMR1231 GAD, Génétique des Anomalies du Développement, Université de Bourgogne, 21079 Dijon, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.03.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5986694PMC
May 2018

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.

Am J Hum Genet 2016 09 18;99(3):711-719. Epub 2016 Aug 18.

Mitchell Cancer Institute, University of South Alabama, Mobile, AL 36604, USA; Department of Biochemistry and Molecular Biology, College of Medicine, University of South Alabama, Mobile, AL 36688, USA. Electronic address:

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http://www.cell.com/ajhg/pdf/S0002-9297(16)30267-1.pdf
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http://linkinghub.elsevier.com/retrieve/pii/S000292971630267
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http://dx.doi.org/10.1016/j.ajhg.2016.06.029DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5011044PMC
September 2016

The use of medical care and the prevalence of serious illness in an adult Prader-Willi syndrome cohort.

Eur J Med Genet 2013 Aug 20;56(8):397-403. Epub 2013 Jun 20.

Department of Clinical Genetics, Maastricht UMC, The Netherlands.

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http://dx.doi.org/10.1016/j.ejmg.2013.05.011DOI Listing
August 2013

Aging in Prader-Willi syndrome: twelve persons over the age of 50 years.

Am J Med Genet A 2012 Jun 14;158A(6):1326-36. Epub 2012 May 14.

Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.35333DOI Listing
June 2012

Physical health problems in adults with Prader-Willi syndrome.

Am J Med Genet A 2011 Sep 10;155A(9):2112-24. Epub 2011 Aug 10.

Department of Clinical Genetics, Maastricht UMC, Maastricht University, Maastricht, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.34171DOI Listing
September 2011

Psychiatric illness in a cohort of adults with Prader-Willi syndrome.

Res Dev Disabil 2011 Sep-Oct;32(5):1729-35. Epub 2011 Mar 31.

Department of Clinical Genetics, Maastricht University Medical Centre, GROW School for Oncology and Developmental Biology, Maastricht University, Maastricht, The Netherlands.

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http://dx.doi.org/10.1016/j.ridd.2011.02.027DOI Listing
October 2011

Behavioral phenotype in adults with Prader-Willi syndrome.

Res Dev Disabil 2011 Mar-Apr;32(2):604-12. Epub 2011 Jan 11.

Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands.

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http://dx.doi.org/10.1016/j.ridd.2010.12.014DOI Listing
June 2011

Urinary incontinence in persons with Prader-Willi Syndrome.

BJU Int 2010 Dec;106(11):1758-62

Department of Child and Adolescent Psychiatry, Saarland University Hospital, Homburg, Germany.

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http://dx.doi.org/10.1111/j.1464-410X.2010.09457.xDOI Listing
December 2010

Dementia in a woman with Prader-Willi syndrome.

Eur J Med Genet 2010 May-Jun;53(3):145-8. Epub 2010 Feb 26.

Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands.

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http://dx.doi.org/10.1016/j.ejmg.2010.02.006DOI Listing
October 2010

Lymphedema in Prader-Willi syndrome.

Int J Dermatol 2008 Nov;47 Suppl 1:42-4

Department of Dermatology, Maastricht University Center for Molecular Dermatology, GROW-School for Oncology and Developmental Biology, and Governor Kremers Center, University Medical Center Maastricht, The Netherlands.

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http://dx.doi.org/10.1111/j.1365-4632.2008.03959.xDOI Listing
November 2008

Healthcare transition in persons with intellectual disabilities: general issues, the Maastricht model, and Prader-Willi syndrome.

Am J Med Genet C Semin Med Genet 2007 Aug;145C(3):241-7

Department of Clinical Genetics, Academic Hospital Maastricht and Research Institute Growth & Development (GROW), Maastricht Univesity, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.c.30136DOI Listing
August 2007