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Jan Osinga

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Hans H G Verbeek; Maria M Alves; J W B de Groot; Jan Osinga; John T M Plukker; Thera P Links; Robert M W Hofstra
The effects of four different tyrosine kinase inhibitors on medullary and papillary thyroid cancer cells.
Yunia Sribudiani; Marco Metzger; Jan Osinga; Amanda Rey; Alan J Burns; Nikhil Thapar; Robert M W Hofstra
Variants in RET associated with Hirschsprung's disease affect binding of transcription factors and gene expression.
Maria M M Alves; Jan Osinga; Joke B G M Verheij; Marco Metzger; Bart J L Eggen; Robert M W Hofstra
Mutations in SCG10 are not involved in Hirschsprung disease.

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All Publications

2011: Hans H G Verbeek; Maria M Alves; J W B de Groot; Jan Osinga; John T M Plukker; Thera P Links; Robert M W Hofstra
The effects of four different tyrosine kinase inhibitors on medullary and papillary thyroid cancer cells.
The Journal of clinical endocrinology and metabolism 2011;96(6):E991-5.
2011: Yunia Sribudiani; Marco Metzger; Jan Osinga; Amanda Rey; Alan J Burns; Nikhil Thapar; Robert M W Hofstra
Variants in RET associated with Hirschsprung's disease affect binding of transcription factors and gene expression.
Gastroenterology 2011;140(2):572-582.e2.
2010: Maria M M Alves; Jan Osinga; Joke B G M Verheij; Marco Metzger; Bart J L Eggen; Robert M W Hofstra
Mutations in SCG10 are not involved in Hirschsprung disease.
PloS one 2010;5(12):e15144.
2007: J Peter van Tintelen; Rene A Tio; Wilhelmina S Kerstjens-Frederikse; Jop H van Berlo; Ludolf G Boven; Albert J H Suurmeijer; Stefan J White; Johan T den Dunnen; Gerard te Meerman; Yvonne J Vos; Annemarie H Van Der Hout; Jan Osinga; Maarten P van den Berg; Dirk J van Veldhuisen; Charles H C M Buys; Robert M W Hofstra; Yigal M Pinto
Severe myocardial fibrosis caused by a deletion of the 5' end of the lamin A/C gene.
Journal of the American College of Cardiology 2007;49(25):2430-9.
2006: J W B de Groot; Ivan Plaza-Menacho; Hein Schepers; Loes J Drenth-Diephuis; Jan Osinga; John T M Plukker; Thera P Links; Bart Eggen; Robert M W Hofstra
Cellular effects of imatinib on medullary thyroid cancer cells harboring multiple endocrine neoplasia Type 2A and 2B associated RET mutations.
Surgery 2006;139(6):806-14.
2006: Renée C Niessen; Rolf Sijmons; Jianghua Ou; Sandra G M Olthof; Jan Osinga; M J L Ligtenberg; Frans B L Hogervorst; Janneke Weiss; Carli Tops; Frederik J Hes; Geertruida H de Bock; Charles H C M Buys; Jan H Kleibeuker; Robert M W Hofstra
MUTYH and the mismatch repair system: partners in crime?
Human genetics 2006;119(1-2):206-11.
2005: Alice S Brooks; Aida M Bertoli Avella; Grzegorz Burzynski; Guido J Breedveld; Jan Osinga; Ludolf G Boven; Jane A Hurst; Grazia M S Mancini; Maarten H Lequin; René F M de Coo; Ivana Matera; Esther de Graaff; Carel Meijers; Patrick J Willems; Dick Tibboel; Ben A Oostra; Robert M W Hofstra
Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems.
American journal of human genetics 2005;77(1):120-6.
2005: Grzegorz Burzynski; Ilja M Nolte; Agnes Bronda; Krista K Bos; Jan Osinga; Ivan Plaza-Menacho; Bas Twigt; Saskia Maas; Alice S Brooks; Joke B G M Verheij; Charles H C M Buys; Robert M W Hofstra
Identifying candidate Hirschsprung disease-associated RET variants.
American journal of human genetics 2005;76(5):850-8.
2005: Ivan Plaza-Menacho; Roelof Koster; Almer van der Sloot; Wim J Quax; Jan Osinga; Tineke van der Sluis; Harry Hollema; Grzegorz Burzynski; Oliver Gimm; Charles H C M Buys; Bart Eggen; Robert M W Hofstra
RET-familial medullary thyroid carcinoma mutants Y791F and S891A activate a Src/JAK/STAT3 pathway, independent of glial cell line-derived neurotrophic factor.
Cancer research 2005;65(5):1729-37.
2004: Grzegorz Burzynski; Ilja M Nolte; Jan Osinga; Isabella Ceccherini; Bas Twigt; Saskia Maas; Alice Brooks; Joke B G M Verheij; Ivan Plaza-Menacho; Charles H C M Buys; Robert M W Hofstra
Localizing a putative mutation as the major contributor to the development of sporadic Hirschsprung disease to the RET genomic sequence between the promoter region and exon 2.
European journal of human genetics : EJHG 2004;12(8):604-12.
2002: Paola Griseri; Barbara Pesce; Giovanna Patrone; Jan Osinga; Francesco Puppo; Monica Sancandi; Robert M W Hofstra; Giovanni Romeo; Roberto Ravazzolo; Marcella Devoto; Isabella Ceccherini
A rare haplotype of the RET proto-oncogene is a risk-modifying allele in hirschsprung disease.
American journal of human genetics 2002;71(4):969-74.
2002: Joke B G M Verheij; Jürgen Kunze; Jan Osinga; Anthonie J van Essen; Robert M W Hofstra
ABCD syndrome is caused by a homozygous mutation in the EDNRB gene.
American journal of medical genetics 2002;108(3):223-5.
2002: Robert M W Hofstra; Peter Elfferich; Jan Osinga; Edwin Verlind; E Fransen; J López Pisón; C E M de Die-Smulders; I Stolte-Dijkstra; Charles H C M Buys
Hirschsprung disease and L1CAM: is the disturbed sex ratio caused by L1CAM mutations?
Journal of medical genetics 2002;39(3):E11.
2000: Robert M W Hofstra; Ying Wu; Rein P Stulp; Peter Elfferich; Jan Osinga; Saskia Maas; L Siderius; Alice S Brooks; J J vd Ende; V M Heydendael; René Severijnen; K M Bax; Carel Meijers; Charles H C M Buys
RET and GDNF gene scanning in Hirschsprung patients using two dual denaturing gel systems.
Human mutation 2000;15(5):418-29.
1999: VM Hayes; Ying Wu; Jan Osinga; Inge M Mulder; Pieter van der Vlies; Peter Elfferich; Charles H C M Buys; Robert M W Hofstra
Improvements in gel composition and electrophoretic conditions for broad-range mutation analysis by denaturing gradient gel electrophoresis.
Nucleic acids research 1999;27(20):e29.
1999: Ying Wu; Rein P Stulp; Peter Elfferich; Jan Osinga; Charles H C M Buys; Robert M W Hofstra
Improved mutation detection in GC-rich DNA fragments by combined DGGE and CDGE.
Nucleic acids research 1999;27(15):e9.
1999: R Wadey; J McKie; C Papapetrou; H Sutherland; F Lohman; Jan Osinga; I Frohn; Robert M W Hofstra; Carel Meijers; F Amati; E Conti; A Pizzuti; B Dallapiccola; G Novelli; Peter J Scambler
Mutations of UFD1L are not responsible for the majority of cases of DiGeorge Syndrome/velocardiofacial syndrome without deletions within chromosome 22q11.
American journal of human genetics 1999;65(1):247-9.
1999: Alice S Brooks; Martijn H Breuning; Jan Osinga; J J vd Smagt; C E Catsman; Charles H C M Buys; Carel Meijers; Robert M W Hofstra
A consanguineous family with Hirschsprung disease, microcephaly, and mental retardation (Goldberg-Shprintzen syndrome).
Journal of medical genetics 1999;36(6):485-9.
1999: Robert M W Hofstra; Olivier Valdenaire; E Arch; Jan Osinga; H Kroes; BM Löffler; Ada Hamosh; Carel Meijers; Charles H C M Buys
A loss-of-function mutation in the endothelin-converting enzyme 1 (ECE-1) associated with Hirschsprung disease, cardiac defects, and autonomic dysfunction.
American journal of human genetics 1999;64(1):304-8.
1998: Ying Wu; VM Hayes; Jan Osinga; Inge M Mulder; M W G Looman; Charles H C M Buys; Robert M W Hofstra
Improvement of fragment and primer selection for mutation detection by denaturing gradient gel electrophoresis.
Nucleic acids research 1998;26(23):5432-40.
1997: Robert M W Hofstra; Jan Osinga; Charles H C M Buys
Mutations in Hirschsprung disease: when does a mutation contribute to the phenotype.
European journal of human genetics : EJHG 1997;5(4):180-5.
1997: Ying Wu; Minna Nyström-Lahti; Jan Osinga; M W G Looman; Päivi Peltomäki; Lauri A Aaltonen; Albert de La Chapelle; Robert M W Hofstra; Charles H C M Buys
MSH2 and MLH1 mutations in sporadic replication error-positive colorectal carcinoma as assessed by two-dimensional DNA electrophoresis.
Genes, chromosomes & cancer 1997;18(4):269-78.
1996: Minna Nyström-Lahti; Y Wu; Anu-Liisa Moisio; Robert M W Hofstra; Jan Osinga; Jukka-Pekka Mecklin; Heikki J Järvinen; Jaakko Leisti; Charles H C M Buys; Albert de La Chapelle; Päivi Peltomäki
DNA mismatch repair gene mutations in 55 kindreds with verified or putative hereditary non-polyposis colorectal cancer.
Human molecular genetics 1996;5(6):763-9.
1996: Robert M W Hofstra; Jan Osinga; G Tan-Sindhunata; Ying Wu; E J Kamsteeg; Rein P Stulp; Conny van Ravenswaaij-Arts; D Majoor-Krakauer; Misha Angrist; Aravinda Chakravarti; Carel Meijers; Charles H C M Buys
A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome).
Nature genetics 1996;12(4):445-7.
1996: J M Cobben; Hans Scheffer; Marianne De Visser; G Van der Steege; J B Verhey; Jan Osinga; M Burton; R G Mensink; P M Grootscholten; Leo P ten Kate; Charles H C M Buys
Prenatal prediction of spinal muscular atrophy. Experience with linkage studies and consequences of present SMN deletion analysis.
European journal of human genetics : EJHG 1996;4(4):231-6.
1995: G van der Steege; J M Cobben; Jan Osinga; Hans Scheffer; Gert-Jan B van Ommen; Charles H C M Buys
A sublocus of the multicopy microsatellite marker CMS1 maps proximal to spinal muscular atrophy (SMA) as shown by recombinant analysis.
Human genetics 1995;96(5):589-91.
1995: G van der Steege; P M Grootscholten; Pieter van der Vlies; TG Draaijers; Jan Osinga; J M Cobben; Hans Scheffer; Charles H C M Buys
PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy.
Lancet 1995;345(8955):985-6.
1995: G van der Steege; TG Draaijers; P M Grootscholten; Jan Osinga; R Anzevino; I Velonà; Johan T den Dunnen; Hans Scheffer; Christina Brahe; Gert-Jan B van Ommen
A provisional transcript map of the spinal muscular atrophy (SMA) critical region.
European journal of human genetics : EJHG 1995;3(2):87-95.
1994: G van der Steege; J M Cobben; Christina Brahe; Jan Osinga; S Zappata; Hans Scheffer; Giovanni Neri; Gert-Jan B van Ommen; Leo P ten Kate; Charles H C M Buys
Identification of key recombinants in multiplex SMA families.
Genomics 1994;22(1):219-22.
1994: Christina Brahe; I Velonà; G van der Steege; S Zappata; A Y van de Veen; Jan Osinga; Carli Tops; Riccardo Fodde; PM Khan; Charles H C M Buys
Mapping of two new markers within the smallest interval harboring the spinal muscular atrophy locus by family and radiation hybrid analysis.
Human genetics 1994;93(5):494-501.
1993: J M Cobben; Hans Scheffer; Marianne De Visser; Jan Osinga; R Frants; G van der Steege; Cisca Wijmenga; Leo P ten Kate; Gert-Jan B van Ommen; Charles H C M Buys
Linkage and apparent heterogeneity in proximal spinal muscular atrophies.
Neuromuscular disorders : NMD 1993;3(4):327-33.
1993: J M Cobben; Marianne De Visser; Hans Scheffer; Jan Osinga; G van der Steege; Charles H C M Buys; Gert-Jan B van Ommen; Leo P ten Kate
Confirmation of clinical diagnosis in requests for prenatal prediction of SMA type I.
Journal of neurology, neurosurgery, and psychiatry 1993;56(3):319-21.
1993: G A Boschman; C H Buys; Anneke Y van der Veen; W Rens; Jan Osinga; R M Slater; Jacob A Aten
Identification of a tumor marker chromosome by flow sorting, DNA amplification in vitro, and in situ hybridization of the amplified product.
Genes, chromosomes & cancer 1993;6(1):10-6.
1992: B Carritt; Klaas Kok; Anke Van den Berg; Jan Osinga; A Pilz; Robert M W Hofstra; M B Davis; Anneke Y van der Veen; Pamela Rabbitts; K Gulati
A gene from human chromosome region 3p21 with reduced expression in small cell lung cancer.
Cancer research 1992;52(6):1536-41.
1991: Hans Scheffer; Y C Kruize; Jan Osinga; G Kuiken; J Wolter Oosterhuis; J A Leeuw; HS Schraffordt Koops; Charles H C M Buys
Complete association of loss of heterozygosity of chromosomes 13 and 17 in osteosarcoma.
Cancer genetics and cytogenetics 1991;53(1):45-55.
1989: Klaas Kok; Jan Osinga; D C Schotanus; H H Berendsen; Lou F M H De Leij; Charles H C M Buys
Amplification and expression of different myc-family genes in a tumor specimen and 3 cell lines derived from one small-cell lung cancer patient during longitudinal follow-up.
International journal of cancer. Journal international du cancer 1989;44(1):75-8.
1989: Annemarie H Van Der Hout; Klaas Kok; Anneke Y van der Veen; Jan Osinga; Lou F M H De Leij; Charles H C M Buys
Localization of amplified c-myc and n-myc in small cell lung cancer cell lines.
Cancer genetics and cytogenetics 1989;38(1):1-8.
1987: Klaas Kok; Jan Osinga; B Carritt; M B Davis; Annemarie H Van Der Hout; Anneke Y van der Veen; R M Landsvater; Lou F M H De Leij; H H Berendsen; Pieter E Postmus
Deletion of a DNA sequence at the chromosomal region 3p21 in all major types of lung cancer.
Nature 1987;330(6148):578-81.
1987: H Mooibroek; Jan Osinga; P E Postmus; B Carritt; Charles H C M Buys
Loss of heterozygosity for a chromosome 3 sequence presumably at 3p21 in small cell lung cancer.
Cancer genetics and cytogenetics 1987;27(2):361-5.
1987: Jacob A Aten; C H Buys; Anneke Y van der Veen; J R Mesa; L C Yu; Joe Gray; Jan Osinga; Jan Stap
Stabilization of chromosomes by DNA intercalators for flow karyotyping and identification by banding of isolated chromosomes.
Histochemistry 1987;87(4):359-66.
1987: Charles H C M Buys; Jan Osinga; Anneke Y van der Veen; H Mooibroek; Annemarie H Van Der Hout; Lou de Leij; Pieter E Postmus; B Carritt
Genome analysis of small cell lung cancer (SCLC) and clinical significance.
European journal of respiratory diseases. Supplement 1987;149():29-36.
1984: C H Buys; Jacob A Aten; T Koerts; Jan Osinga; Anneke Y van der Veen
Isolated metaphase chromosomes stabilized by DNA-intercalation or polyamine addition: a comparison.
Cell biology international reports 1984;8(4):273.
1982: C H Buys; Jan Osinga; Anneke Y van der Veen
Effects on chromosomal proteins in sister chromatid differentiation by incorporation of 5-bromodeoxyuridine into DNA.
Experimental cell research 1982;137(2):452-5.