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List of works by Jorieke Bergman

A multi-country study of prevalence and early childhood mortality among children with omphalocele

scientific article published on 17 October 2020

A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism.

scientific article published on 17 September 2010

A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome.

scientific article

Anosmia predicts hypogonadotropic hypogonadism in CHARGE syndrome.

scientific article published in March 2011

Beckwith Wiedemann syndrome: A population-based study on prevalence, prenatal diagnosis, associated anomalies and survival in Europe

scientific article published on 31 May 2018

Beta-Blocker Use in Pregnancy and Risk of Specific Congenital Anomalies: A European Case-Malformed Control Study

scientific article published on 11 December 2017

Birth prevalence for congenital limb defects in the northern Netherlands: a 30-year population-based study

scientific article

CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype.

scientific article published on 04 March 2011

CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome

scientific article

CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndrome

scientific article

Death in CHARGE syndrome after the neonatal period.

scientific article published on March 2010

Epidemiology of congenital cerebral anomalies in Europe: a multicentre, population-based EUROCAT study

scientific article published on 26 June 2019

Epidemiology of septo-optic dysplasia with focus on prevalence and maternal age – A EUROCAT study

scholarly article by Ester Garne et al published September 2018 in European Journal of Medical Genetics

Etiological diagnosis in limb reduction defects and the number of affected limbs: A population-based study in the Northern Netherlands

scientific article published on 21 September 2020

Exon copy number alterations of the CHD7 gene are not a major cause of CHARGE and CHARGE-like syndrome

scientific article

Folic acid supplementation influences the distribution of neural tube defect subtypes: A registry-based study

scientific article published on 25 November 2015

Fraser Syndrome: Epidemiological Study in a European Population

article

Imaging of Clival Hypoplasia in CHARGE Syndrome and Hypothesis for Development: A Case-Control Study

article

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

scientific article

Maternal risk associated with the VACTERL association: A case-control study

scientific article published on 22 July 2020

Maternal risk factors for the VACTERL association: A EUROCAT case-control study

scientific article published on 22 April 2020

Maternal use of drug substrates of placental transporters and the effect of transporter-mediated drug interactions on the risk of congenital anomalies.

scientific article

Mutation update on the CHD7 gene involved in CHARGE syndrome

scientific article

P-Glycoprotein-Mediated Drug Interactions in Pregnancy and Changes in the Risk of Congenital Anomalies: A Case-Reference Study.

scientific article published on July 2015

Parenting Stress in CHARGE Syndrome and the Relationship with Child Characteristics.

scientific article published on 23 June 2009

Pharmacogenetics of drug-induced birth defects: the role of polymorphisms of placental transporter proteins.

scientific article

Prenatal diagnosis of urinary tract anomalies, a cohort study in the Northern Netherlands.

scientific article published on 14 December 2017

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

scientific article published on 22 June 2017

Prevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum: a registry-based study in Europe

scientific article

Screening of TGFBR1, TGFBR2, and FLNA in familial mitral valve prolapse.

scientific article

Study of smell and reproductive organs in a mouse model for CHARGE syndrome.

scientific article

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

scientific article

The cardiac phenotype in patients with a CHD7 mutation.

scientific article published in June 2013

The many faces of aggressive aortic pathology: Loeys-Dietz syndrome.

scientific article published on September 2008

The results of CHD7 analysis in clinically well-characterized patients with Kallmann syndrome

scientific article published on 07 March 2012

Two related Dutch families with a clinically variable presentation of cardioskeletal myopathy caused by a novel S13F mutation in the desmin gene

scientific article published on 15 July 2007

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