Publications by authors named "Hennie Bikker"

29Publications

Yield of the Genetic Test in Suspected Catecholaminergic Polymorphic Ventricular Tachycardia and Implications for Test Interpretation.

Circ Genom Precis Med 2018 02;11(2):e001424

From the Mayo Clinic School of Medicine (J.D.K., M.J.A.), Medical Scientist Training Program (J.D.K., M.J.A.), Mayo Clinic Graduate School of Biomedical Sciences, Department of Molecular Pharmacology and Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory (J.D.K., D.J.T., M.J.A.), Division of Biomedical Statistics and Informatics, Department of Health Sciences Research (N.B.L.), Division of Heart Rhythm Services, Department of Cardiovascular Diseases (D.J.T., M.J.A.), and Division of Pediatric Cardiology, Department of Pediatrics (M.J.A.), Mayo Clinic, Rochester, MN; Department of Medicine, Stanford University, Stanford, CA (K.N.P.); Transgenomic Inc, New Haven, CT (T.E.C.); and Department of Clinical Genetics (H.B.) and Heart Centre, Department of Clinical and Experimental Cardiology (A.A.M.W.), Academic Medical Center, University of Amsterdam, The Netherlands.

View Article and Find Full Text PDF
February 2018

NTCP deficiency and persistently raised bile salts: an adult case.

J Inherit Metab Dis 2017 05 10;40(3):313-315. Epub 2017 Mar 10.

Department of Gastroenterology-Hepatology and Metabolic Center, University Hospitals Leuven, Leuven, Belgium.

View Article and Find Full Text PDF
May 2017

Clinical Reasoning: Heart to swallow.

Neurology 2016 05;86(20):e210-4

From the Departments of Intensive Care (D.J.v.W.), Cardiogenetics (D.Q.B.-S.), Psychiatry (M.S.v.N.), and Neurology (M.R.T.), Leiden University Medical Centre, Leiden; and Department of Clinical Genetics (H.B.), Academic Medical Centre, Amsterdam, the Netherlands.

View Article and Find Full Text PDF
May 2016

A Girl With Beckwith-Wiedemann Syndrome and Pseudohypoparathyroidism Type 1B Due to Multiple Imprinting Defects.

J Clin Endocrinol Metab 2015 Nov 14;100(11):3963-6. Epub 2015 Sep 14.

Department of Pediatrics (B.B., L.J.H.S., M.C.W.), Reinier de Graaf Hospital, 2625 AD Delft, The Netherlands; Department of Clinical Genetics (H.B.), Academic Medical Center, University of Amsterdam, 1105 AZ Amsterdam, The Netherlands; and Department of Clinical Genetics (S.G.K.), Leiden University Medical Center, 2333 ZA Leiden, The Netherlands.

View Article and Find Full Text PDF
November 2015

The ARVD/C genetic variants database: 2014 update.

Hum Mutat 2015 Apr 19;36(4):403-10. Epub 2015 Mar 19.

Department of Cardiac, Thoracic and Vascular Sciences, University of Padua, Padua, Italy; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.

View Article and Find Full Text PDF
April 2015

Characterization and treatment of persistent hepatocellular secretory failure.

Liver Int 2015 Apr 4;35(4):1478-88. Epub 2014 Jul 4.

Department of Gastroenterology & Hepatology and Tytgat Institute for Liver and Intestinal Research, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.

View Article and Find Full Text PDF
April 2015

Mechanistic basis of desmosome-targeted diseases.

J Mol Biol 2013 Nov 2;425(21):4006-22. Epub 2013 Aug 2.

School of Cancer Sciences, University of Birmingham, Birmingham B15 2TT, UK.

View Article and Find Full Text PDF
November 2013

[Congenital hyperinsulinism in the north-east Netherlands. Clinical features and DNA diagnostics in 22 children].

Ned Tijdschr Geneeskd 2011 ;155(32):A3343

Universitair Medisch Centrum St Radboud, Afd. Kindergeneeskunde, Nijmegen, the Netherlands.

View Article and Find Full Text PDF
November 2011

Genetics and phenomics of hypothyroidism and goiter due to TPO mutations.

Mol Cell Endocrinol 2010 Jun 12;322(1-2):38-43. Epub 2010 Feb 12.

Laboratory for Reproductive Biology, Academic Medical Center G2-133, PO Box 22700, 1100 DE Amsterdam, The Netherlands.

View Article and Find Full Text PDF
June 2010

Molecular diagnostics of catecholaminergic polymorphic ventricular tachycardia using denaturing high-performance liquid chromatography and sequencing.

Methods Mol Med 2006 ;126:171-83

Experimental and Molecular Cardiology Group, Academic Medical Center, Amsterdam, The Netherlands.

View Article and Find Full Text PDF
December 2006

Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism.

N Engl J Med 2002 Jul;347(2):95-102

Department of Pediatric Endocrinology, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Amsterdam.

View Article and Find Full Text PDF
July 2002