Margje Sinnema

Margje Sinnema

UNVERIFIED PROFILE

Are you Margje Sinnema?   Register this Author

Register author
Margje Sinnema

Margje Sinnema

Publications by authors named "Margje Sinnema"

Are you Margje Sinnema?   Register this Author

19Publications

499Reads

39Profile Views

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.

View Article

Download full-text PDF

Source
http://www.bloodjournal.org/lookup/doi/10.1182/blood-2018-06
Publisher Site
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:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S00029297183016
Publisher Site
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:

View Article

Download full-text PDF

Source
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:

View Article

Download full-text PDF

Source
http://www.cell.com/ajhg/pdf/S0002-9297(16)30267-1.pdf
Web Search
http://linkinghub.elsevier.com/retrieve/pii/S000292971630267
Publisher Site
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

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

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

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