Osinga J - Search Results

1

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.

2

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

3

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

4

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.

5

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.

6

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.

7

Prenatal prediction of spinal muscular atrophy. Experience with linkage studies and consequences of present SMN deletion analysis.

Cobben JM, Scheffer H, De Visser M, Van der Steege G, Verhey JB, Osinga J, Burton M, Mensink RG, Grootscholten PM, Ten Kate LP, Buys CH. Cobben JM, et al. Among authors: osinga j. Eur J Hum Genet. 1996;4(4):231-6. Eur J Hum Genet. 1996. PMID: 8875190

8

RET and GDNF gene scanning in Hirschsprung patients using two dual denaturing gel systems.

Hofstra RM, Wu Y, Stulp RP, Elfferich P, Osinga J, Maas SM, Siderius L, Brooks AS, vd Ende JJ, Heydendael VM, Severijnen RS, Bax KM, Meijers C, Buys CH. Hofstra RM, et al. Among authors: osinga j. Hum Mutat. 2000;15(5):418-29. doi: 10.1002/(SICI)1098-1004(200005)15:5<418::AID-HUMU3>3.0.CO;2-2. Hum Mutat. 2000. PMID: 10790203

9

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.

10

A rare haplotype of the RET proto-oncogene is a risk-modifying allele in hirschsprung disease.

Griseri P, Pesce B, Patrone G, Osinga J, Puppo F, Sancandi M, Hofstra R, Romeo G, Ravazzolo R, Devoto M, Ceccherini I. Griseri P, et al. Among authors: osinga j. Am J Hum Genet. 2002 Oct;71(4):969-74. doi: 10.1086/342774. Epub 2002 Sep 4. Am J Hum Genet. 2002. PMID: 12214285 Free PMC article.

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