Lista de obras - Jorieke Bergman - Dominio Público Uruguay

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

artículo científico publicado en 2020

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

artículo científico publicado en 2010

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

artículo científico publicado en 2012

Anosmia predicts hypogonadotropic hypogonadism in CHARGE syndrome.

artículo científico publicado en 2011

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

artículo científico publicado en 2018

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

artículo científico publicado en 2017

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

artículo científico publicado en 2013

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

artículo científico publicado en 2009

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

artículo científico publicado en 2010

Death in CHARGE syndrome after the neonatal period.

artículo científico publicado en 2010

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

artículo científico publicado en 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

artículo científico publicado en 2008

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

artículo científico publicado en 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

artículo científico publicado en 2017

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

artículo científico publicado en 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.

artículo científico publicado en 2017

Mutation update on the CHD7 gene involved in CHARGE syndrome

artículo científico publicado en 2012

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

artículo científico publicado en 2015

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

artículo científico publicado en 2009

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

artículo científico publicado en 2014

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

artículo científico publicado en 2017

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

artículo científico publicado en 2017

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

artículo científico publicado en 2014

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

artículo científico publicado en 2013

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

artículo científico publicado en 2009

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

artículo científico publicado en 2016

The cardiac phenotype in patients with a CHD7 mutation.

artículo científico publicado en 2013

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

artículo científico publicado en 2008

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

artículo científico publicado en 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

Lista de obras de Jorieke Bergman

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

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

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

Anosmia predicts hypogonadotropic hypogonadism in CHARGE syndrome.

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

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

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

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

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

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

Death in CHARGE syndrome after the neonatal period.

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

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

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

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

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

Fraser Syndrome: Epidemiological Study in a European Population

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

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

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

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

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

Mutation update on the CHD7 gene involved in CHARGE syndrome

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

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

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

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

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

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

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

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

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

The cardiac phenotype in patients with a CHD7 mutation.

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

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

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