Osinga J - Search Results

1

ABCD syndrome is caused by a homozygous mutation in the EDNRB gene.

Verheij JB, Kunze J, Osinga J, van Essen AJ, Hofstra RM. Verheij JB, et al. Among authors: osinga j. Am J Med Genet. 2002 Mar 15;108(3):223-5. doi: 10.1002/ajmg.10172. Am J Med Genet. 2002. PMID: 11891690

2

Identifying candidate Hirschsprung disease-associated RET variants.

Burzynski GM, Nolte IM, Bronda A, Bos KK, Osinga J, Plaza Menacho I, Twigt B, Maas S, Brooks AS, Verheij JB, Buys CH, Hofstra RM. Burzynski GM, et al. Among authors: osinga j. Am J Hum Genet. 2005 May;76(5):850-8. doi: 10.1086/429589. Epub 2005 Mar 9. Am J Hum Genet. 2005. PMID: 15759212 Free PMC article.

3

A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome).

Hofstra RM, Osinga J, Tan-Sindhunata G, Wu Y, Kamsteeg EJ, Stulp RP, van Ravenswaaij-Arts C, Majoor-Krakauer D, Angrist M, Chakravarti A, Meijers C, Buys CH. Hofstra RM, et al. Among authors: osinga j. Nat Genet. 1996 Apr;12(4):445-7. doi: 10.1038/ng0496-445. Nat Genet. 1996. PMID: 8630503 Free article.

4

Mutations in Hirschsprung disease: when does a mutation contribute to the phenotype.

Hofstra RM, Osinga J, Buys CH. Hofstra RM, et al. Among authors: osinga j. Eur J Hum Genet. 1997 Jul-Aug;5(4):180-5. Eur J Hum Genet. 1997. PMID: 9359036 Review.

5

A consanguineous family with Hirschsprung disease, microcephaly, and mental retardation (Goldberg-Shprintzen syndrome).

Brooks AS, Breuning MH, Osinga J, vd Smagt JJ, Catsman CE, Buys CH, Meijers C, Hofstra RM. Brooks AS, et al. Among authors: osinga j. J Med Genet. 1999 Jun;36(6):485-9. J Med Genet. 1999. PMID: 10874640 Free PMC article.

6

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.

Burzynski GM, Nolte IM, Osinga J, Ceccherini I, Twigt B, Maas S, Brooks A, Verheij J, Plaza Menacho I, Buys CH, Hofstra RM. Burzynski GM, et al. Among authors: osinga j. Eur J Hum Genet. 2004 Aug;12(8):604-12. doi: 10.1038/sj.ejhg.5201199. Eur J Hum Genet. 2004. PMID: 15138456

7

Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems.

Brooks AS, Bertoli-Avella AM, Burzynski GM, Breedveld GJ, Osinga J, Boven LG, Hurst JA, Mancini GM, Lequin MH, de Coo RF, Matera I, de Graaff E, Meijers C, Willems PJ, Tibboel D, Oostra BA, Hofstra RM. Brooks AS, et al. Among authors: osinga j. Am J Hum Genet. 2005 Jul;77(1):120-6. doi: 10.1086/431244. Epub 2005 May 9. Am J Hum Genet. 2005. PMID: 15883926 Free PMC article.

8

MUTYH and the mismatch repair system: partners in crime?

Niessen RC, Sijmons RH, Ou J, Olthof SG, Osinga J, Ligtenberg MJ, Hogervorst FB, Weiss MM, Tops CM, Hes FJ, de Bock GH, Buys CH, Kleibeuker JH, Hofstra RM. Niessen RC, et al. Among authors: osinga j. Hum Genet. 2006 Mar;119(1-2):206-11. doi: 10.1007/s00439-005-0118-5. Epub 2006 Jan 12. Hum Genet. 2006. PMID: 16408224

9

KBP interacts with SCG10, linking Goldberg-Shprintzen syndrome to microtubule dynamics and neuronal differentiation.

Alves MM, Burzynski G, Delalande JM, Osinga J, van der Goot A, Dolga AM, de Graaff E, Brooks AS, Metzger M, Eisel UL, Shepherd I, Eggen BJ, Hofstra RM. Alves MM, et al. Among authors: osinga j. Hum Mol Genet. 2010 Sep 15;19(18):3642-51. doi: 10.1093/hmg/ddq280. Epub 2010 Jul 9. Hum Mol Genet. 2010. PMID: 20621975 Free PMC article.

10

Mutations in SCG10 are not involved in Hirschsprung disease.

Alves MM, Osinga J, Verheij JB, Metzger M, Eggen BJ, Hofstra RM. Alves MM, et al. Among authors: osinga j. PLoS One. 2010 Dec 20;5(12):e15144. doi: 10.1371/journal.pone.0015144. PLoS One. 2010. PMID: 21187955 Free PMC article.

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