Cohort Profile: The Nijmegen Biomedical Study (NBS)

نویسندگان

  • Tessel E Galesloot
  • Sita H Vermeulen
  • Dorine W Swinkels
  • F de Vegt
  • B Franke
  • M den Heijer
  • J de Graaf
  • André LM Verbeek
  • Lambertus ALM Kiemeney
چکیده

Cohort Profile: The Nijmegen Biomedical Study (NBS) Tessel E Galesloot,* Sita H Vermeulen, Dorine W Swinkels, F de Vegt, B Franke, M den Heijer, J de Graaf, André LM Verbeek and Lambertus ALM Kiemeney Radboud university medical center, Radboud Institute for Health Sciences, Nijmegen, The Netherlands, Radboud university medical center, Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands, Radboud university medical center, Donders Institute for Brain, Cognition and Behaviour, Departments of Human Genetics and Psychiatry, Nijmegen, The Netherlands, Department of Internal Medicine, VU Medical Centre, Amsterdam, The Netherlands

برای دانلود رایگان متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

A duplication dup(4)(q28q35.2) de novo in a newborn.

We report here a case of a newborn with hypotrophy and somatic stigmatization: microcephaly, facial dysmorphism, heart defect and immunodeficiency syndrome. The proband's karyotype was 46,XY,dup(4)(q28q35.2) de novo with chromosomal breaks in 4% of metaphases. We demonstrate the usefulness of a combination of physical examination, classical cytogenetics, FISH and PCR techniques in order to esta...

متن کامل

Prospective Study of a Cohort of Russian Nijmegen Breakage Syndrome Patients Demonstrating Predictive Value of Low Kappa-Deleting Recombination Excision Circle (KREC) Numbers and Beneficial Effect of Hematopoietic Stem Cell Transplantation (HSCT)

BACKGROUND Nijmegen breakage syndrome (NBS) is a combined primary immunodeficiency with DNA repair defect, microcephaly, and other phenotypical features. It predominantly occurs in Slavic populations that have a high frequency of carriers with the causative NBN gene c.657_661del5 mutation. Due to the rarity of the disease in the rest of the world, studies of NBS patients are few. Here, we repor...

متن کامل

Syndrome of the month Nijmegen breakage syndrome

Nijmegen breakage syndrome (NBS), a rare autosomal recessive condition also known as ataxia telangiectasia (AT) variants VI and V2, is characterised by microcephaly, typical facies, short stature, immunodeficiency, and chromosomal instability. We report the clinical, immunological, chromosomal, and cell biological findings in 42 patients who are included in the NBS Registry in Nijmegen. The imm...

متن کامل

Characterization of cell cycle checkpoint responses after ionizing radiation in Nijmegen breakage syndrome cells.

Nijmegen breakage syndrome (NBS), which in the past also has been classified as a variant of ataxia telangiectasia (AT), is characterized by cancer proneness and extreme sensitivity to ionizing radiation. We investigated the DNA damage responses of four independent primary NBS fibroblast cell lines. Following a low dose of ionizing radiation, p53 is mostly induced with slower kinetics and shows...

متن کامل

Characterization of Cell Cycle Checkpoint Responses after Ionizing Radiation in Nijmegen Breakage Syndrome Cells1

Nijmegen breakage syndrome (NBS), which in the past also has been classified as a variant of ataxia telangiectasia (AT), is characterized by cancer proneness and extreme sensitivity to ionizing radiation. We inves tigated the DNA damage responses of four independent primary NBS fibroblast cell lines. Following a low dose of ionizing radiation, p53 is mostly induced with slower kinetics and show...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

عنوان ژورنال:

دوره 46  شماره 

صفحات  -

تاریخ انتشار 2017