Publications by authors named "Aimee D C Paulussen"

35Publications

PTCH1 isoform 1b is the major transcript in the development of basal cell nevus syndrome.

J Hum Genet 2018 Sep 21;63(9):965-969. Epub 2018 Jun 21.

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

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http://dx.doi.org/10.1038/s10038-018-0485-0DOI Listing
September 2018

Extreme phenotypic variability of a novel GLI2 mutation in a large family with panhypopituitarism and polydactyly: clinical implications.

Clin Endocrinol (Oxf) 2018 09 3;89(3):378-380. Epub 2018 Jul 3.

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

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http://dx.doi.org/10.1111/cen.13760DOI Listing
September 2018

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

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

Next-Generation Sequencing in Oncology: Genetic Diagnosis, Risk Prediction and Cancer Classification.

Int J Mol Sci 2017 Jan 31;18(2). Epub 2017 Jan 31.

Department of Gynaecology and Obstetrics: GROW-School for Oncology and Developmental Biology, Maastricht University Medical Centre, 6229HX Maastricht, The Netherlands.

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http://dx.doi.org/10.3390/ijms18020308DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5343844PMC
January 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

Inosine Triphosphate Pyrophosphohydrolase Expression: Decreased in Leukocytes of HIV-Infected Patients Using Combination Antiretroviral Therapy.

J Acquir Immune Defic Syndr 2016 Dec;73(4):390-395

*Department of Internal Medicine, Division of Infectious Diseases, Erasmus MC, Rotterdam, the Netherlands;†Department of Clinical Chemistry and Hematology, Zuyderland Medical Center, Heerlen, the Netherlands;‡Department of Clinical Chemistry and Laboratory Medicine, Leiden University Medical Center, Leiden, the Netherlands;Departments of §Medical Microbiology;‖Internal Medicine, Division of Infectious Diseases, Research School CAPHRI, Maastricht University Medical Center, Maastricht, the Netherlands;¶Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, the Netherlands; and#Department of Medical Microbiology and Infectious Diseases, Erasmus MC, Rotterdam, the Netherlands.

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http://dx.doi.org/10.1097/QAI.0000000000001130DOI Listing
December 2016

Hypertrophic remodelling in cardiac regulatory myosin light chain (MYL2) founder mutation carriers.

Eur Heart J 2016 06 24;37(23):1815-22. Epub 2015 Oct 24.

Department of Clinical Genetics, Unit Clinical Genomics, Maastricht University Medical Centre, P.O. Box 5800, 6229 GR Maastricht, The Netherlands School for Cardiovascular Diseases, Maastricht University Medical Centre, Maastricht, The Netherlands.

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http://dx.doi.org/10.1093/eurheartj/ehv522DOI Listing
June 2016

Cell-Free RNA Is a Reliable Fetoplacental Marker in Noninvasive Fetal Sex Determination.

Clin Chem 2015 Dec 14;61(12):1515-23. Epub 2015 Oct 14.

Department of Clinical Genetics and GROW School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, the Netherlands; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.

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http://clinchem.aaccjnls.org/content/clinchem/61/12/1515.ful
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http://www.clinchem.org/cgi/doi/10.1373/clinchem.2015.244962
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http://dx.doi.org/10.1373/clinchem.2015.244962DOI Listing
December 2015

Acquired resistance to the Hedgehog pathway inhibitor vismodegib due to smoothened mutations in treatment of locally advanced basal cell carcinoma.

J Am Acad Dermatol 2014 Nov 4;71(5):1005-8. Epub 2014 Sep 4.

Department of Dermatology, Maastricht University Medical Center, Maastricht, The Netherlands; GROW, School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, The Netherlands.

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http://dx.doi.org/10.1016/j.jaad.2014.08.001DOI Listing
November 2014

A patient with a mild holoprosencephaly spectrum phenotype and heterotaxy and a 1.3 Mb deletion encompassing GLI2.

Am J Med Genet A 2012 Jan 21;158A(1):166-73. Epub 2011 Nov 21.

Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.34350DOI Listing
January 2012

The effect of ITPA polymorphisms on the enzyme kinetic properties of human erythrocyte inosine triphosphatase toward its substrates ITP and 6-Thio-ITP.

Nucleosides Nucleotides Nucleic Acids 2011 Nov;30(11):839-49

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

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http://dx.doi.org/10.1080/15257770.2011.606789DOI Listing
November 2011

Genetics of maximally attained lung function: a role for leptin?

Respir Med 2012 Feb 4;106(2):235-42. Epub 2011 Nov 4.

Department of Respiratory Medicine, NUTRIM School for Nutrition, Toxicology and Metabolism, Maastricht University Medical Center+, Maastricht, The Netherlands.

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http://dx.doi.org/10.1016/j.rmed.2011.08.001DOI Listing
February 2012

Twin-specific intrauterine 'growth' charts based on cross-sectional birthweight data.

Twin Res Hum Genet 2008 Apr;11(2):224-35

Nutrition and Toxicology Research Institute Maastricht (NUTRIM), Department of Genetics and Cell Biology, Maastricht University, Maastricht, the Netherlands.

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http://dx.doi.org/10.1375/twin.11.2.224DOI Listing
April 2008

Carbamoyl phosphate synthetase polymorphisms as a risk factor for necrotizing enterocolitis.

Pediatr Res 2007 Aug;62(2):188-90

Department of Pediatrics, University Hospital of Maastricht, 6202 AZ Maastricht, The Netherlands.

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http://dx.doi.org/10.1203/PDR.0b013e3180a0324eDOI Listing
August 2007

Two functionally relevant polymorphisms in the human progesterone receptor gene (+331 G/A and progins) and the predisposition for breast and/or ovarian cancer.

Gynecol Oncol 2006 May 19;101(2):287-95. Epub 2005 Dec 19.

Department of Obstetrics and Gynaecology, University Hospital of Maastricht, The Netherlands.

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http://dx.doi.org/10.1016/j.ygyno.2005.10.040DOI Listing
May 2006

Pharmacogenomics and acquired long QT syndrome.

Pharmacogenomics 2005 Apr;6(3):259-70

Johnson & Johnson Pharmaceutical Research and Development, Department of Internal Medicine, Turnhoutseweg 30, B-2340 Beerse, Belgium.

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https://www.futuremedicine.com/doi/abs/10.1517/14622416.6.3.
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http://dx.doi.org/10.1517/14622416.6.3.259DOI Listing
April 2005

HERG mutation predicts short QT based on channel kinetics but causes long QT by heterotetrameric trafficking deficiency.

Cardiovasc Res 2005 Aug;67(3):467-75

Department of Genetics and Cell Biology (CARIM/NUTRIM), University of Maastricht, P.O. Box 616 (#16), 6200 MD Maastricht, The Netherlands.

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http://dx.doi.org/10.1016/j.cardiores.2005.05.017DOI Listing
August 2005

Genetic basis of drug-induced arrhythmias.

Ann Med 2004 ;36 Suppl 1:35-40

Department of Medical Physiology, University Medical Center Utrecht, The Netherlands.

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http://dx.doi.org/10.1080/17431380410032634DOI Listing
October 2004

Genetic variations of KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 in drug-induced long QT syndrome patients.

J Mol Med (Berl) 2004 Mar 4;82(3):182-8. Epub 2004 Feb 4.

Department of Pharmacogenomics, Johnson & Johnson Pharmaceutical Research and Development, Turnhoutseweg 30, Beerse, Belgium.

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http://dx.doi.org/10.1007/s00109-003-0522-zDOI Listing
March 2004