Servi J C Stevens

Summary

Affiliation: Maastricht University
Country: The Netherlands

Publications

  1. pmc Conserved mutation of Epstein-Barr virus-encoded BamHI-A Rightward Frame-1 (BARF1) gene in Indonesian nasopharyngeal carcinoma
    Susanna H Hutajulu
    Department of Pathology, VU University Medical Center, Amsterdam, The Netherlands
    Infect Agent Cancer 5:16. 2010
  2. doi request reprint Identical cryptic partial monosomy 20pter and trisomy 20qter in three adult siblings due to a large maternal pericentric inversion: detection by MLPA and breakpoint mapping by SNP array analysis
    Servi J C Stevens
    Department of Clinical Genetics, Maastricht University Medical Center, 6202 AZ, Maastricht, The Netherlands
    Am J Med Genet A 149:2226-30. 2009
  3. doi request reprint A translocation in acute lymphoblastic leukemia that cytogenetically mimics the recurrent MLL-AFF1 translocation and fuses SEPT11 to MLL
    Servi J C Stevens
    Department of Clinical Genetics, Unit of Cytogenetics, Maastricht University Medical Center, Maastricht, The Netherlands
    Cancer Genet Cytogenet 201:48-51. 2010
  4. pmc SNP array-based copy number and genotype analyses for preimplantation genetic diagnosis of human unbalanced translocations
    Chris M J van Uum
    Departments of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands
    Eur J Hum Genet 20:938-44. 2012
  5. doi request reprint MYT1L is a candidate gene for intellectual disability in patients with 2p25.3 (2pter) deletions
    Servi J C Stevens
    Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands
    Am J Med Genet A 155:2739-45. 2011

Collaborators

  • Trijnie Dijkhuizen
  • Chris M J van Uum
  • Susanna H Hutajulu
  • Bertien Hollanders-Crombach
  • Hubert J Smeets
  • Edith Coonen
  • Christine E M de Die-Smulders
  • Joseph C F M Dreesen
  • John J M Engelen
  • Joep P M Geraedts
  • Marion DrĂ¼sedau
  • Astrid E Greijer
  • Jajah Fachiroh
  • Bambang Hariwijanto
  • Sandra Awm Verkuijlen
  • Jaap M Middeldorp
  • Sofia M Haryana
  • Eveline K Hoebe

Detail Information

Publications5

  1. pmc Conserved mutation of Epstein-Barr virus-encoded BamHI-A Rightward Frame-1 (BARF1) gene in Indonesian nasopharyngeal carcinoma
    Susanna H Hutajulu
    Department of Pathology, VU University Medical Center, Amsterdam, The Netherlands
    Infect Agent Cancer 5:16. 2010
    ....
  2. doi request reprint Identical cryptic partial monosomy 20pter and trisomy 20qter in three adult siblings due to a large maternal pericentric inversion: detection by MLPA and breakpoint mapping by SNP array analysis
    Servi J C Stevens
    Department of Clinical Genetics, Maastricht University Medical Center, 6202 AZ, Maastricht, The Netherlands
    Am J Med Genet A 149:2226-30. 2009
    ..The fact that all three children carry an identical chromosomal rearrangement has consequences for genetic counseling for carriers of large pericentric inversions, as the recurrence risk is very high...
  3. doi request reprint A translocation in acute lymphoblastic leukemia that cytogenetically mimics the recurrent MLL-AFF1 translocation and fuses SEPT11 to MLL
    Servi J C Stevens
    Department of Clinical Genetics, Unit of Cytogenetics, Maastricht University Medical Center, Maastricht, The Netherlands
    Cancer Genet Cytogenet 201:48-51. 2010
    ..Their putative oncogenic role may be related to forced MLL dimerization by the septin coiled coil and GTP-binding domains, which could convert MLL to an oncogene...
  4. pmc SNP array-based copy number and genotype analyses for preimplantation genetic diagnosis of human unbalanced translocations
    Chris M J van Uum
    Departments of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands
    Eur J Hum Genet 20:938-44. 2012
    ..SNP genotyping could confirm partial monosomies. This combination of techniques showed improved diagnostic specificity compared with FISH and may provide more reliable PGD analysis associated with higher embryo transfer rate...
  5. doi request reprint MYT1L is a candidate gene for intellectual disability in patients with 2p25.3 (2pter) deletions
    Servi J C Stevens
    Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands
    Am J Med Genet A 155:2739-45. 2011
    ..The identification of MYT1L as candidate gene for ID justifies further molecular studies aimed at detecting mutations and for mechanistic studies on its role in neuron development and on neuropathogenic effects of haploinsufficiency...