Hofstra RM - Search Results

1

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. 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

2

DGGE-based whole-gene mutation scanning of the dystrophin gene in Duchenne and Becker muscular dystrophy patients.

Hofstra RM, Mulder IM, Vossen R, de Koning-Gans PA, Kraak M, Ginjaar IB, van der Hout AH, Bakker E, Buys CH, van Ommen GJ, van Essen AJ, den Dunnen JT. Hofstra RM, et al. Hum Mutat. 2004 Jan;23(1):57-66. doi: 10.1002/humu.10283. Hum Mutat. 2004. PMID: 14695533

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

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.

6

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

7

Comprehensive and accurate mutation scanning of the CFTR gene by two-dimensional DNA electrophoresis.

Wu Y, Hofstra RM, Scheffer H, Uitterlinden AG, Mullaart E, Buys CH, Vijg J. Wu Y, et al. Among authors: hofstra rm. Hum Mutat. 1996;8(2):160-7. doi: 10.1002/(SICI)1098-1004(1996)8:2<160::AID-HUMU8>3.0.CO;2-F. Hum Mutat. 1996. PMID: 8844214

8

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.

9

Absence of mutations in the RET gene in acute myeloid leukemia.

Visser M, Hofstra RM, Stulp RP, Wu Y, Buys CH, Willemze R, Landegent JE. Visser M, et al. Among authors: hofstra rm. Ann Hematol. 1997 Sep;75(3):87-90. doi: 10.1007/s002770050319. Ann Hematol. 1997. PMID: 9368476

10

Oncological implications of RET gene mutations in Hirschsprung's disease.

Sijmons RH, Hofstra RM, Wijburg FA, Links TP, Zwierstra RP, Vermey A, Aronson DC, Tan-Sindhunata G, Brouwers-Smalbraak GJ, Maas SM, Buys CH. Sijmons RH, et al. Among authors: hofstra rm. Gut. 1998 Oct;43(4):542-7. doi: 10.1136/gut.43.4.542. Gut. 1998. PMID: 9824583 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

294 results

Search Page

Filters