Hofstra RM - 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. Eur J Hum Genet. 1997 Jul-Aug;5(4):180-5. Eur J Hum Genet. 1997. PMID: 9359036 Review.

2

Segregation at three loci explains familial and population risk in Hirschsprung disease.

Gabriel SB, Salomon R, Pelet A, Angrist M, Amiel J, Fornage M, Attié-Bitach T, Olson JM, Hofstra R, Buys C, Steffann J, Munnich A, Lyonnet S, Chakravarti A. Gabriel SB, et al. Nat Genet. 2002 May;31(1):89-93. doi: 10.1038/ng868. Epub 2002 Apr 15. Nat Genet. 2002. PMID: 11953745

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: hofstra rm. 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: hofstra rm. 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: hofstra rm. PLoS One. 2010 Dec 20;5(12):e15144. doi: 10.1371/journal.pone.0015144. PLoS One. 2010. PMID: 21187955 Free PMC article.

6

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: hofstra rm. Am J Med Genet. 2002 Mar 15;108(3):223-5. doi: 10.1002/ajmg.10172. Am J Med Genet. 2002. PMID: 11891690

7

Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease.

Angrist M, Bolk S, Thiel B, Puffenberger EG, Hofstra RM, Buys CH, Cass DT, Chakravarti A. Angrist M, et al. Among authors: hofstra rm. Hum Mol Genet. 1995 May;4(5):821-30. doi: 10.1093/hmg/4.5.821. Hum Mol Genet. 1995. PMID: 7633441

8

Mutation analysis of the RET proto-oncogene in Dutch families with MEN 2A, MEN 2B and FMTC: two novel mutations and one de novo mutation for MEN 2A.

Landsvater RM, Jansen RP, Hofstra RM, Buys CH, Lips CJ, Ploos van Amstel HK. Landsvater RM, et al. Among authors: hofstra rm. Hum Genet. 1996 Jan;97(1):11-4. doi: 10.1007/BF00218825. Hum Genet. 1996. PMID: 8557249

9

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. Nat Genet. 1996 Apr;12(4):445-7. doi: 10.1038/ng0496-445. Nat Genet. 1996. PMID: 8630503 Free article.

10

No mutations found by RET mutation scanning in sporadic and hereditary neuroblastoma.

Hofstra RM, Cheng NC, Hansen C, Stulp RP, Stelwagen T, Clausen N, Tommerup N, Caron H, Westerveld A, Versteeg R, Buys CH. Hofstra RM, et al. Hum Genet. 1996 Mar;97(3):362-4. doi: 10.1007/BF02185773. Hum Genet. 1996. PMID: 8786083

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