Hofstra RM - Search Results

1

A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus.

Bolk S, Pelet A, Hofstra RM, Angrist M, Salomon R, Croaker D, Buys CH, Lyonnet S, Chakravarti A. Bolk S, et al. Among authors: hofstra rm. Proc Natl Acad Sci U S A. 2000 Jan 4;97(1):268-73. doi: 10.1073/pnas.97.1.268. Proc Natl Acad Sci U S A. 2000. PMID: 10618407 Free PMC article.

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

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

4

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.

5

A Hirschsprung disease locus at 22q11?

Kerstjens-Frederikse WS, Hofstra RM, van Essen AJ, Meijers JH, Buys CH. Kerstjens-Frederikse WS, et al. Among authors: hofstra rm. J Med Genet. 1999 Mar;36(3):221-4. J Med Genet. 1999. PMID: 10204849 Free PMC article.

6

Interaction between a chromosome 10 RET enhancer and chromosome 21 in the Down syndrome-Hirschsprung disease association.

Arnold S, Pelet A, Amiel J, Borrego S, Hofstra R, Tam P, Ceccherini I, Lyonnet S, Sherman S, Chakravarti A. Arnold S, et al. Hum Mutat. 2009 May;30(5):771-5. doi: 10.1002/humu.20944. Hum Mutat. 2009. PMID: 19306335 Free PMC article.

7

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.

8

A gene in the chromosomal region 3p21 with greatly reduced expression in lung cancer is similar to the gene for ubiquitin-activating enzyme.

Kok K, Hofstra R, Pilz A, van den Berg A, Terpstra P, Buys CH, Carritt B. Kok K, et al. Proc Natl Acad Sci U S A. 1993 Jul 1;90(13):6071-5. doi: 10.1073/pnas.90.13.6071. Proc Natl Acad Sci U S A. 1993. PMID: 8327486 Free PMC article.

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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