Publications by authors named "Constance T Schrander-Stumpel"

26Publications

Endochondral ossification in a case of progressive osseous heteroplasia in a young female child.

J Pediatr Orthop B 2014 Sep;23(5):477-84

Departments of aOrthopedics bPediatrics cClinical Genetics, Maastricht Universitair Medisch Centrum+, Maastricht University dGROW School for Oncology and Developmental Biology, Maastricht University eCAPHRI School for Public Health and Primary Care, Maastricht University Medical Center, Maastricht, The Netherlands.

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http://dx.doi.org/10.1097/BPB.0000000000000045DOI Listing
September 2014

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

The psychiatric phenotype in triple X syndrome: new hypotheses illustrated in two cases.

Dev Neurorehabil 2012 ;15(3):233-8

Department of Child & Adolescent Psychiatry, Eleos, Ede, The Netherlands.

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http://dx.doi.org/10.3109/17518423.2012.655799DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3399634PMC
September 2012

Genotype-phenotype relationships as prognosticators in Rett syndrome should be handled with care in clinical practice.

Am J Med Genet A 2012 Feb 21;158A(2):340-50. Epub 2011 Dec 21.

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

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http://dx.doi.org/10.1002/ajmg.a.34418DOI Listing
February 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

Microcephaly, unusual nose, cutaneous syndactyly, and mental retardation.

Clin Dysmorphol 2010 Oct;19(4):212-4

Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands (CTRMSS).

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http://dx.doi.org/10.1097/MCD.0b013e32833bb5c6DOI Listing
October 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

Triple X syndrome: a review of the literature.

Eur J Hum Genet 2010 Mar 1;18(3):265-71. Epub 2009 Jul 1.

Department of Child and Adolescent Psychiatry, Eleos, Amersfoort, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2009.109DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2987225PMC
March 2010

Skin abnormalities in individuals with macrocephaly: Cowden disease from a dermatologist's point of view.

Int J Dermatol 2008 Nov;47 Suppl 1:45-8

Department of Dermatology, Maastricht University Medical Center, The Netherlands.

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http://dx.doi.org/10.1111/j.1365-4632.2008.03960.xDOI Listing
November 2008

Shprintzen-Goldberg syndrome associated with a novel missense mutation in TGFBR2.

Exp Dermatol 2008 Apr 2;17(4):362-5. Epub 2007 Nov 2.

Department of Dermatology, University of Maastricht, Maastricht, The Netherlands.

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http://dx.doi.org/10.1111/j.1600-0625.2007.00648.xDOI Listing
April 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

Neonatal Marfan syndrome: clinical report and review of the literature.

Clin Dysmorphol 2005 Apr;14(2):81-4

Department of Paediatric Cardiology, University Hospital Maastricht, Maastricht University, Maastricht, The Netherlands.

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http://dx.doi.org/10.1097/00019605-200504000-00005DOI Listing
April 2005

Expressive language in children with Kabuki syndrome.

Am J Med Genet A 2005 Jan;132A(3):256-9

Department of Ear, Nose & Throat, Ghent University Hospital, Ghent University, Ghent, Belgium.

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http://dx.doi.org/10.1002/ajmg.a.30333DOI Listing
January 2005

Kabuki syndrome is not caused by an 8p duplication: a cytogenetic study in 20 patients.

Am J Med Genet A 2005 Jan;132A(3):276-7

Department of Clinical Genetics, Academic Hospital Maastricht, Maastricht, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.30457DOI Listing
January 2005

Auditory canal atresia, humeroscapular synostosis, and other skeletal abnormalities: confirmation of the autosomal recessive "SAMS" syndrome.

Am J Med Genet 2002 Jul;110(4):359-64

Department of Pediatrics, Academic Hospital Maastricht, Maastricht, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.10441DOI Listing
July 2002