Jorieke E H Bergman

Summary

Affiliation: University Medical Center Groningen
Country: The Netherlands

Publications

  1. ncbi request reprint Two related Dutch families with a clinically variable presentation of cardioskeletal myopathy caused by a novel S13F mutation in the desmin gene
    Jorieke E H Bergman
    Department of Genetics, University Medical Center Groningen, University of Groningen, Post Box 30001, 9700 RB Groningen, The Netherlands
    Eur J Med Genet 50:355-66. 2007
  2. ncbi request reprint Exon copy number alterations of the CHD7 gene are not a major cause of CHARGE and CHARGE-like syndrome
    Jorieke E H Bergman
    Department of Genetics, University Medical Center Groningen, P O Box 30 001, 9700 RB Groningen, The Netherlands
    Eur J Med Genet 51:417-25. 2008
  3. doi request reprint A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome
    Jorieke E H Bergman
    Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands
    Hum Mutat 33:1251-60. 2012
  4. doi request reprint The results of CHD7 analysis in clinically well-characterized patients with Kallmann syndrome
    Jorieke E H Bergman
    Department of Genetics, University of Groningen, University Medical Center Groningen, 9700 RB Groningen, The Netherlands
    J Clin Endocrinol Metab 97:E858-62. 2012
  5. ncbi request reprint The cardiac phenotype in patients with a CHD7 mutation
    Nicole Corsten-Janssen
    Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands
    Circ Cardiovasc Genet 6:248-54. 2013
  6. doi request reprint Mutation update on the CHD7 gene involved in CHARGE syndrome
    Nicole Janssen
    Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands
    Hum Mutat 33:1149-60. 2012
  7. pmc Study of smell and reproductive organs in a mouse model for CHARGE syndrome
    Jorieke E H Bergman
    Department of Genetics, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands
    Eur J Hum Genet 18:171-7. 2010
  8. doi request reprint Anosmia predicts hypogonadotropic hypogonadism in CHARGE syndrome
    Jorieke E H Bergman
    Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
    J Pediatr 158:474-9. 2011
  9. ncbi request reprint Pharmacogenetics of drug-induced birth defects: the role of polymorphisms of placental transporter proteins
    Aizati N A Daud
    Unit of Pharmacotherapy and Pharmaceutical Care, Department of Pharmacy, University of Groningen, 9713AV Groningen, The Netherlands
    Pharmacogenomics 15:1029-41. 2014
  10. pmc Birth prevalence for congenital limb defects in the northern Netherlands: a 30-year population-based study
    Ecaterina Vasluian
    Department of Rehabilitation Medicine, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands
    BMC Musculoskelet Disord 14:323. 2013

Collaborators

Detail Information

Publications11

  1. ncbi request reprint Two related Dutch families with a clinically variable presentation of cardioskeletal myopathy caused by a novel S13F mutation in the desmin gene
    Jorieke E H Bergman
    Department of Genetics, University Medical Center Groningen, University of Groningen, Post Box 30001, 9700 RB Groningen, The Netherlands
    Eur J Med Genet 50:355-66. 2007
    ..This article illustrates the importance of analysing the desmin gene in patients with (familial) cardiac conduction disease, dilated cardiomyopathy and/or a progressive skeletal myopathy resembling limb-girdle muscular dystrophy...
  2. ncbi request reprint Exon copy number alterations of the CHD7 gene are not a major cause of CHARGE and CHARGE-like syndrome
    Jorieke E H Bergman
    Department of Genetics, University Medical Center Groningen, P O Box 30 001, 9700 RB Groningen, The Netherlands
    Eur J Med Genet 51:417-25. 2008
    ..9% (1/54) and 5.6% (1/18) in all patients and in typical CHARGE patients, respectively. We conclude that exon copy number alterations of the CHD7 gene are not a major cause of CHARGE and CHARGE-like syndrome...
  3. doi request reprint A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome
    Jorieke E H Bergman
    Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands
    Hum Mutat 33:1251-60. 2012
    ..Finally, we show that CHD7 missense mutations are, in general, associated with a milder phenotype than truncating mutations...
  4. doi request reprint The results of CHD7 analysis in clinically well-characterized patients with Kallmann syndrome
    Jorieke E H Bergman
    Department of Genetics, University of Groningen, University Medical Center Groningen, 9700 RB Groningen, The Netherlands
    J Clin Endocrinol Metab 97:E858-62. 2012
    ..Two independent studies showed that CHD7 mutations can also be found in a minority of KS patients...
  5. ncbi request reprint The cardiac phenotype in patients with a CHD7 mutation
    Nicole Corsten-Janssen
    Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands
    Circ Cardiovasc Genet 6:248-54. 2013
    ..We present the first, detailed, descriptive study on the cardiac phenotype of 299 patients with a CHD7 mutation and discuss the role of CHD7 in cardiac development...
  6. doi request reprint Mutation update on the CHD7 gene involved in CHARGE syndrome
    Nicole Janssen
    Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands
    Hum Mutat 33:1149-60. 2012
    ..CHD7.org. In addition, we summarize the latest data on CHD7 expression studies, animal models, and functional studies, and we discuss the latest clinical insights into CHARGE syndrome...
  7. pmc Study of smell and reproductive organs in a mouse model for CHARGE syndrome
    Jorieke E H Bergman
    Department of Genetics, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands
    Eur J Hum Genet 18:171-7. 2010
    ..This supports the theory that the extreme variability of the CHARGE phenotype in both humans and mice might be attributed to variations in the fetal microenvironment or to purely stochastic events...
  8. doi request reprint Anosmia predicts hypogonadotropic hypogonadism in CHARGE syndrome
    Jorieke E H Bergman
    Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
    J Pediatr 158:474-9. 2011
    ....
  9. ncbi request reprint Pharmacogenetics of drug-induced birth defects: the role of polymorphisms of placental transporter proteins
    Aizati N A Daud
    Unit of Pharmacotherapy and Pharmaceutical Care, Department of Pharmacy, University of Groningen, 9713AV Groningen, The Netherlands
    Pharmacogenomics 15:1029-41. 2014
    ..The last section looks into the recent studies exploring the association between P-glycoprotein polymorphisms and the risk of fetal birth defects associated with medication use during pregnancy. ..
  10. pmc Birth prevalence for congenital limb defects in the northern Netherlands: a 30-year population-based study
    Ecaterina Vasluian
    Department of Rehabilitation Medicine, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands
    BMC Musculoskelet Disord 14:323. 2013
    ..Epidemiological studies permit the timely detection of trends in CLD and of associations with other birth defects. The aim of this study is to describe the birth prevalence of CLD in the northern Netherlands...
  11. doi request reprint Screening of TGFBR1, TGFBR2, and FLNA in familial mitral valve prolapse
    Jan J J Aalberts
    Department of Cardiology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands
    Am J Med Genet A 164:113-9. 2014
    ..Screening for FLNA mutations is recommended in familial myxomatous valvular dystrophy, particularly if X-linked inheritance is suspected...