Publications by authors named "Wilhelmina S Kerstjens-Frederikse"

39Publications

The Genetic Epidemiology of Pediatric Pulmonary Arterial Hypertension.

J Pediatr 2020 Oct 2;225:65-73.e5. Epub 2020 Jun 2.

Center for Congenital Heart Diseases, Department of Pediatric Cardiology, Beatrix Children's Hospital, University Medical Center Groningen, Groningen, the Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jpeds.2020.05.051DOI Listing
October 2020

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.

Authors:
Laura Castilla-Vallmanya Kaja K Selmer Clémantine Dimartino Raquel Rabionet Bernardo Blanco-Sánchez Sandra Yang Margot R F Reijnders Antonie J van Essen Myriam Oufadem Magnus D Vigeland Barbro Stadheim Gunnar Houge Helen Cox Helen Kingston Jill Clayton-Smith Jeffrey W Innis Maria Iascone Anna Cereda Sara Gabbiadini Wendy K Chung Victoria Sanders Joel Charrow Emily Bryant John Millichap Antonio Vitobello Christel Thauvin Frederic Tran Mau-Them Laurence Faivre Gaetan Lesca Audrey Labalme Christelle Rougeot Nicolas Chatron Damien Sanlaville Katherine M Christensen Amelia Kirby Raymond Lewandowski Rachel Gannaway Maha Aly Anna Lehman Lorne Clarke Luitgard Graul-Neumann Christiane Zweier Davor Lessel Bernarda Lozic Ingvild Aukrust Ryan Peretz Robert Stratton Thomas Smol Anne Dieux-Coëslier Joanna Meira Elizabeth Wohler Nara Sobreira Erin M Beaver Jennifer Heeley Lauren C Briere Frances A High David A Sweetser Melissa A Walker Catherine E Keegan Parul Jayakar Marwan Shinawi Wilhelmina S Kerstjens-Frederikse Dawn L Earl Victoria M Siu Emma Reesor Tony Yao Robert A Hegele Olena M Vaske Shannon Rego Kevin A Shapiro Brian Wong Michael J Gambello Marie McDonald Danielle Karlowicz Roberto Colombo Alessandro Serretti Lynn Pais Anne O'Donnell-Luria Alison Wray Simon Sadedin Belinda Chong Tiong Y Tan John Christodoulou Susan M White Anne Slavotinek Deborah Barbouth Dayna Morel Swols Mélanie Parisot Christine Bole-Feysot Patrick Nitschké Véronique Pingault Arnold Munnich Megan T Cho Valérie Cormier-Daire Susanna Balcells Stanislas Lyonnet Daniel Grinberg Jeanne Amiel Roser Urreizti Christopher T Gordon

Genet Med 2020 Jul 7;22(7):1215-1226. Epub 2020 May 7.

Laboratory of embryology and genetics of human malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41436-020-0792-7DOI Listing
July 2020

TBX4 variants and pulmonary diseases: getting out of the 'Box'.

Curr Opin Pulm Med 2020 05;26(3):277-284

Center for Congenital Heart Diseases, Department of Pediatric Cardiology, Beatrix Children's Hospital, University Medical Center Groningen.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MCP.0000000000000678DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7170437PMC
May 2020

The ever-expanding phenotypical spectrum of human TBX4 mutations: from toe to lung.

Eur Respir J 2019 Aug 22;54(2). Epub 2019 Aug 22.

Center for Congenital Heart Diseases, Dept of Pediatric Cardiology, Beatrix Children's Hospital, National Referral Center for Pediatric Pulmonary Hypertension, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1183/13993003.01504-2019DOI Listing
August 2019

Prenatal exposure to serotonin reuptake inhibitors and congenital heart anomalies: an exploratory pharmacogenetics study.

Pharmacogenomics 2017 Jul 22;18(10):987-1001. Epub 2017 Jun 22.

Unit of PharmacoTherapy, -Epidemiology & -Economics, Department of Pharmacy, University of Groningen, Groningen Research Institute of Pharmacy, Groningen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.2217/pgs-2017-0036DOI Listing
July 2017

Knowledge and attitude regarding pharmacogenetics among formerly pregnant women in the Netherlands and their interest in pharmacogenetic research.

BMC Pregnancy Childbirth 2017 04 14;17(1):120. Epub 2017 Apr 14.

Department of Pharmacy, University of Groningen, Groningen Research Institute of Pharmacy, Unit of PharmacoTherapy, -Epidemiology & -Economics, 9713AV, Groningen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12884-017-1290-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5391584PMC
April 2017

The Risk of Congenital Heart Anomalies Following Prenatal Exposure to Serotonin Reuptake Inhibitors-Is Pharmacogenetics the Key?

Int J Mol Sci 2016 Aug 13;17(8). Epub 2016 Aug 13.

Department of Pharmacy, Unit of PharmacoTherapy, -Epidemiology and -Economics, University of Groningen, 9713AV Groningen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3390/ijms17081333DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5000730PMC
August 2016

CHD7 mutations are not a major cause of atrioventricular septal and conotruncal heart defects.

Am J Med Genet A 2014 Dec 24;164A(12):3003-9. Epub 2014 Sep 24.

University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.36747DOI Listing
December 2014

The role of maternal-fetal cholesterol transport in early fetal life: current insights.

Biol Reprod 2013 Jan 31;88(1):24. Epub 2013 Jan 31.

Eurocat Registration, Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.

View Article

Download full-text PDF

Source
http://www.biolreprod.org/content/early/2012/11/13/biolrepro
Web Search
http://www.biolreprod.org/cgi/doi/10.1095/biolreprod.112.102
Publisher Site
http://dx.doi.org/10.1095/biolreprod.112.102442DOI Listing
January 2013

The origin of fetal sterols in second-trimester amniotic fluid: endogenous synthesis or maternal-fetal transport?

Am J Obstet Gynecol 2012 Sep 11;207(3):202.e19-25. Epub 2012 Jun 11.

Eurocat Registration Northern Netherlands and Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajog.2012.06.003DOI Listing
September 2012

Combined adverse effects of maternal smoking and high body mass index on heart development in offspring: evidence for interaction?

Heart 2012 Mar 30;98(6):474-9. Epub 2012 Jan 30.

Eurocat Northern Netherlands, Department of Medical Genetics, University Medical Centre Groningen, PO Box 30001, 9700 RB Groningen, The Netherlands.

View Article

Download full-text PDF

Source
http://heart.bmj.com/lookup/doi/10.1136/heartjnl-2011-300822
Publisher Site
http://dx.doi.org/10.1136/heartjnl-2011-300822DOI Listing
March 2012

New clinical molecular diagnostic methods for congenital and inherited heart disease.

Expert Opin Med Diagn 2011 Jan 8;5(1):9-24. Epub 2010 Dec 8.

University Medical Center Groningen, University of Groningen, Department of Genetics, PO Box 30.001, 9700 RB Groningen, the Netherlands +31 50 3617100 ; +31 50 3617230 ;

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1517/17530059.2011.540566DOI Listing
January 2011

First-trimester use of paroxetine and congenital heart defects: a population-based case-control study.

Birth Defects Res A Clin Mol Teratol 2010 Feb;88(2):94-100

Eurocat Northern Netherlands, Department of Genetics, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/bdra.20641DOI Listing
February 2010

Concordant symptomatic intracranial aneurysm in a monozygotic twin: a case report and review of the literature.

Twin Res Hum Genet 2009 Jun;12(3):295-300

Department of Neurosurgery, University Medical Center Groningen, University of Groningen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1375/twin.12.3.295DOI Listing
June 2009

Ultrastructural pathology of the nuclear envelope in familial lamin A/C cardiomyopathy.

Cardiovasc Pathol 2010 Jul-Aug;19(4):e135-6. Epub 2009 Apr 16.

Department of Pathology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.carpath.2009.03.001DOI Listing
October 2010

Folic acid sensitive birth defects in association with intrauterine exposure to folic acid antagonists.

Reprod Toxicol 2005 Jul-Aug;20(2):203-7

Department of Social Pharmacy, Pharmacoepidemiology and Pharmacotherapy, Groningen University Institute for Drug Exploration (GUIDE), Antonius Deusinglaan 1, 9713 AV, Groningen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.reprotox.2005.01.008DOI Listing
August 2005

Specific language impairment in children with velocardiofacial syndrome: four case studies.

Cleft Palate Craniofac J 2003 Mar;40(2):190-5

Department of Otorhinolaryngology, University Hospital Groningen, Groningen, the Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1597/1545-1569_2003_040_0190_sliicw_2.0.co_2DOI Listing
March 2003