Servi J C Stevens
Affiliation: Maastricht University
Country: The Netherlands
- Conserved mutation of Epstein-Barr virus-encoded BamHI-A Rightward Frame-1 (BARF1) gene in Indonesian nasopharyngeal carcinomaSusanna H Hutajulu
Department of Pathology, VU University Medical Center, Amsterdam, The Netherlands
Infect Agent Cancer 5:16. 2010....
- 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 analysisServi 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...
- A translocation in acute lymphoblastic leukemia that cytogenetically mimics the recurrent MLL-AFF1 translocation and fuses SEPT11 to MLLServi 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...
- SNP array-based copy number and genotype analyses for preimplantation genetic diagnosis of human unbalanced translocationsChris 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...
- MYT1L is a candidate gene for intellectual disability in patients with 2p25.3 (2pter) deletionsServi 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...
- A recurrent deletion syndrome at chromosome bands 2p11.2-2p12 flanked by segmental duplications at the breakpoints and including REEP1Servi J C Stevens
Department Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands
Eur J Hum Genet 23:543-6. 2015....