Publications by authors named "Christine de Die-Smulders"

68Publications

Predictive genetic testing in Huntington's disease: should a neurologist be involved?

Eur J Hum Genet 2020 Sep 13;28(9):1205-1209. Epub 2020 May 13.

Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands.

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http://dx.doi.org/10.1038/s41431-020-0633-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7608370PMC
September 2020

Parental repeat length instability in myotonic dystrophy type 1 pre- and protomutations.

Eur J Hum Genet 2020 07 12;28(7):956-962. Epub 2020 Mar 12.

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

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http://dx.doi.org/10.1038/s41431-020-0601-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7316980PMC
July 2020

Diagnosing Juvenile Huntington's Disease: An Explorative Study among Caregivers of Affected Children.

Brain Sci 2020 Mar 7;10(3). Epub 2020 Mar 7.

Department of Neurology, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands.

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http://dx.doi.org/10.3390/brainsci10030155DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7139393PMC
March 2020

Growth, health, and motor development of 5-year-old children born after preimplantation genetic diagnosis.

Fertil Steril 2019 06 17;111(6):1151-1158. Epub 2019 Apr 17.

Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, The Netherlands; School for Oncology and Developmental Biology (GROW), Maastricht University, Maastricht, The Netherlands.

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http://dx.doi.org/10.1016/j.fertnstert.2019.01.035DOI Listing
June 2019

Risk Assessment for Huntington's Disease for (Future) Offspring Requires Offering Preconceptional CAG Analysis to Both Partners.

J Huntingtons Dis 2019 ;8(1):71-78

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

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http://dx.doi.org/10.3233/JHD-180314DOI Listing
March 2020

Effect of Plasmapheresis on Cholestatic Pruritus and Autotaxin Activity During Pregnancy.

Hepatology 2019 06 14;69(6):2707-2710. Epub 2019 Feb 14.

Division of Gastroenterology and Hepatology, Department of Internal Medicine, Maastricht University Medical Center, Maastricht, the Netherlands.

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http://dx.doi.org/10.1002/hep.30496DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6593664PMC
June 2019

Blurring boundaries. Interviews with PGT couples about comprehensive chromosome screening.

Eur J Med Genet 2019 Dec 17;62(12):103604. Epub 2018 Dec 17.

UZ Brussel, Centrum Medische Genetica, Laarbeeklaan 101, 1090, Brussel, Belgium. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2018.12.009DOI Listing
December 2019

Clinical and genetic characteristics of late-onset Huntington's disease.

Parkinsonism Relat Disord 2019 04 29;61:101-105. Epub 2018 Nov 29.

Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands; GROW Research Institute for Oncology and Developmental Biology, Maastricht University, Maastricht, the Netherlands.

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http://dx.doi.org/10.1016/j.parkreldis.2018.11.009DOI Listing
April 2019

Preimplantation genetic diagnosis for mitochondrial DNA mutations: analysis of one blastomere suffices.

J Med Genet 2017 10 1;54(10):693-697. Epub 2017 Jul 1.

Department of Clinical Genetics, Maastricht University Medical Center+ (MUMC+), Maastricht, The Netherlands.

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http://dx.doi.org/10.1136/jmedgenet-2017-104633DOI Listing
October 2017

An Unusual Triad in Pediatric Neurology: A Case Report on Cerebral Palsy, Epilepsy, and Duchenne Muscular Dystrophy.

Child Neurol Open 2016 Jan-Dec;3:2329048X16642948. Epub 2016 Apr 19.

Department of Neurology, Maastricht University Medical Centre, Maastricht, the Netherlands.

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http://dx.doi.org/10.1177/2329048X16642948DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5417281PMC
April 2016

A comprehensive strategy for exome-based preconception carrier screening.

Genet Med 2017 05 27;19(5):583-592. Epub 2016 Oct 27.

Department of Clinical Genetics, Maastricht University Medical Center+ (MUMC+), Maastricht, The Netherlands.

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http://dx.doi.org/10.1038/gim.2016.153DOI Listing
May 2017

Delusional and psychotic disorders in juvenile myotonic dystrophy type-1.

Am J Med Genet B Neuropsychiatr Genet 2017 Jun 27;174(4):359-366. Epub 2017 Apr 27.

Centre for Human Genetics, University of Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1002/ajmg.b.32524DOI Listing
June 2017

PGD for the m.14487 T>C mitochondrial DNA mutation resulted in the birth of a healthy boy.

Hum Reprod 2017 03;32(3):698-703

Department of Clinical Genetics, Maastricht University Medical Center+ (MUMC+), P. Debyelaan 25, P.O. Box 5800, 6202 AZ Maastricht, The Netherlands.

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http://dx.doi.org/10.1093/humrep/dew356DOI Listing
March 2017

Serum AMH levels in healthy women from BRCA1/2 mutated families: are they reduced?

Hum Reprod 2016 11 5;31(11):2651-2659. Epub 2016 Oct 5.

Department of Reproductive Medicine, University Medical Center Utrecht, Heidelberglaan 100, Room F05.126, PO Box 85500, 3508 GA Utrecht, The Netherlands.

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http://dx.doi.org/10.1093/humrep/dew242DOI Listing
November 2016

Preventing the transmission of mitochondrial DNA disorders using prenatal or preimplantation genetic diagnosis.

Ann N Y Acad Sci 2015 Sep 27;1350:29-36. Epub 2015 Aug 27.

Department of Neurology, Erasmus MC-Sophia Children's Hospital, Rotterdam, the Netherlands.

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http://dx.doi.org/10.1111/nyas.12866DOI Listing
September 2015

Advantages and Disadvantages of Different Implementation Strategies of Non-Invasive Prenatal Testing in Down Syndrome Screening Programmes.

Public Health Genomics 2015 18;18(5):260-71. Epub 2015 Jul 18.

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

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https://www.karger.com/Article/FullText/435780
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http://dx.doi.org/10.1159/000435780DOI Listing
June 2016

Evidence for increased SOX3 dosage as a risk factor for X-linked hypopituitarism and neural tube defects.

Am J Med Genet A 2014 Aug 15;164A(8):1947-52. Epub 2014 Apr 15.

Human Genome Laboratory, Department of Human Genetics, KU Leuven, Leuven, Belgium; Human Genome Laboratory, VIB Center for the Biology of Disease, Leuven, Belgium.

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http://doi.wiley.com/10.1002/ajmg.a.36580
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http://dx.doi.org/10.1002/ajmg.a.36580DOI Listing
August 2014

An FBN1 deep intronic mutation in a familial case of Marfan syndrome: an explanation for genetically unsolved cases?

Hum Mutat 2014 May 7;35(5):571-4. Epub 2014 Apr 7.

Center for Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium.

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http://dx.doi.org/10.1002/humu.22540DOI Listing
May 2014

Arrays in postnatal and prenatal diagnosis: An exploration of the ethics of consent.

Hum Mutat 2012 Jun 4;33(6):916-22. Epub 2012 Apr 4.

Department of Health, Ethics and Society, CAPHRI and GROW Research Schools, Maastricht University, Maastricht, The Netherlands.

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http://dx.doi.org/10.1002/humu.22068DOI Listing
June 2012

Advances in prenatal screening: the ethical dimension.

Nat Rev Genet 2011 08 18;12(9):657-63. Epub 2011 Aug 18.

Department of Health, Ethics and Society, Maastricht University, PO BOX 616, 6200 MD Maastricht, The Netherlands.

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http://dx.doi.org/10.1038/nrg3036DOI Listing
August 2011

Non-invasive prenatal diagnosis for aneuploidy: toward an integral ethical assessment.

Hum Reprod 2011 Nov 12;26(11):2915-7. Epub 2011 Aug 12.

Faculty of Health, Medicine & Life Sciences, Department of Health, Ethics & Society, and GROW, School for Oncology and Developmental Biology, Maastricht University, PO Box 616, 6200 MD Maastricht, The Netherlands.

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http://dx.doi.org/10.1093/humrep/der268DOI Listing
November 2011

Profiles and motives for PGD: a prospective cohort study of couples referred for PGD in the Netherlands.

Hum Reprod 2011 Jul 9;26(7):1826-35. Epub 2011 May 9.

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

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https://academic.oup.com/humrep/article-lookup/doi/10.1093/h
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http://dx.doi.org/10.1093/humrep/der137DOI Listing
July 2011

Peripheral neuropathy in myotonic dystrophy type 1.

J Peripher Nerv Syst 2011 Mar;16(1):24-9

Department of Neurology, Maastricht University Medical Centre, Maastricht, The Netherlands.

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http://dx.doi.org/10.1111/j.1529-8027.2011.00313.xDOI Listing
March 2011

Rasch-built myotonic dystrophy type 1 activity and participation scale (DM1-Activ).

Neuromuscul Disord 2010 May 2;20(5):310-8. Epub 2010 Apr 2.

Department of Neurology, Maastricht University Medical Centre, P.O. Box 5800, 6202 AZ, Maastricht, The Netherlands.

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http://dx.doi.org/10.1016/j.nmd.2010.03.010DOI Listing
May 2010

Non-invasive prenatal testing: ethical issues explored.

Eur J Hum Genet 2010 Mar 2;18(3):272-7. Epub 2009 Dec 2.

Department of Health, Ethics and Society, Faculty of Health, Medicine and Life Sciences, Research Institute GROW, Maastricht University, Maastricht, The Netherlands.

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http://www.nature.com/articles/ejhg2009203
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http://dx.doi.org/10.1038/ejhg.2009.203DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2987207PMC
March 2010

Preimplantation genetic diagnosis for mitochondrial DNA disorders: ethical guidance for clinical practice.

Eur J Hum Genet 2009 Dec 27;17(12):1550-9. Epub 2009 May 27.

Department of Health, Ethics and Society, Faculty of Health, Medicine and Life Sciences, Maastricht University, Maastricht, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2009.88DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2987024PMC
December 2009

What next for preimplantation genetic screening?

Hum Reprod 2008 Mar 17;23(3):478-80. Epub 2008 Jan 17.

UCL Centre for PGD, Institute for Women's Health, University College London, 86-96 Chenies Mews, WC1E6HX London, UK.

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http://dx.doi.org/10.1093/humrep/dem424DOI Listing
March 2008

Influence of mutation type on clinical expression of Leber hereditary optic neuropathy.

Am J Ophthalmol 2006 Apr;141(4):676-82

Department of Genetics and Cell Biology, Maastricht University, Maastricht, The Netherlands.

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http://dx.doi.org/10.1016/j.ajo.2005.11.007DOI Listing
April 2006

A novel mutation in the MSX2 gene in a family with foramina parietalia permagna (FPP).

Am J Med Genet A 2005 Nov;139(1):45-7

Department of Clinical Genetics, University Hospital Maastricht, PO Box 5800, 6202 AZ Maastricht, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.30923DOI Listing
November 2005

Biallelic inactivation of BRCA2 in Fanconi anemia.

Science 2002 Jul 13;297(5581):606-9. Epub 2002 Jun 13.

Department of Pediatric Oncology, Children's Hospital, Harvard Medical School, 44 Binney Street, Boston, MA 02115, USA.

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http://dx.doi.org/10.1126/science.1073834DOI Listing
July 2002