Stulp RP - 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. Among authors: stulp rp. 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

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

3

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. Among authors: stulp rp. Hum Genet. 1996 Mar;97(3):362-4. doi: 10.1007/BF02185773. Hum Genet. 1996. PMID: 8786083

4

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: stulp rp. Ann Hematol. 1997 Sep;75(3):87-90. doi: 10.1007/s002770050319. Ann Hematol. 1997. PMID: 9368476

5

Improved mutation detection in GC-rich DNA fragments by combined DGGE and CDGE.

Wu Y, Stulp RP, Elfferich P, Osinga J, Buys CH, Hofstra RM. Wu Y, et al. Among authors: stulp rp. Nucleic Acids Res. 1999 Aug 1;27(15):e9. doi: 10.1093/nar/27.15.e9. Nucleic Acids Res. 1999. PMID: 10454628 Free PMC article.

6

RET mutation screening in familial cutaneous lichen amyloidosis and in skin amyloidosis associated with multiple endocrine neoplasia.

Hofstra RM, Sijmons RH, Stelwagen T, Stulp RP, Kousseff BG, Lips CJ, Steijlen PM, Van Voorst Vader PC, Buys CH. Hofstra RM, et al. Among authors: stulp rp. J Invest Dermatol. 1996 Aug;107(2):215-8. doi: 10.1111/1523-1747.ep12329651. J Invest Dermatol. 1996. PMID: 8757765 Free article.

7

Extensive mutation scanning of RET in sporadic medullary thyroid carcinoma and of RET and VHL in sporadic pheochromocytoma reveals involvement of these genes in only a minority of cases.

Hofstra RM, Stelwagen T, Stulp RP, de Jong D, Hulsbeek M, Kamsteeg EJ, van den Berg A, Landsvater RM, Vermey A, Molenaar WM, Lips CJ, Buys CH. Hofstra RM, et al. Among authors: stulp rp. J Clin Endocrinol Metab. 1996 Aug;81(8):2881-4. doi: 10.1210/jcem.81.8.8768845. J Clin Endocrinol Metab. 1996. PMID: 8768845

8

Three novel KCNA1 mutations in episodic ataxia type I families.

Scheffer H, Brunt ER, Mol GJ, van der Vlies P, Stulp RP, Verlind E, Mantel G, Averyanov YN, Hofstra RM, Buys CH. Scheffer H, et al. Among authors: stulp rp. Hum Genet. 1998 Apr;102(4):464-6. doi: 10.1007/s004390050722. Hum Genet. 1998. PMID: 9600245

9

A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma.

Hofstra RM, Landsvater RM, Ceccherini I, Stulp RP, Stelwagen T, Luo Y, Pasini B, Höppener JW, van Amstel HK, Romeo G, et al. Hofstra RM, et al. Among authors: stulp rp. Nature. 1994 Jan 27;367(6461):375-6. doi: 10.1038/367375a0. Nature. 1994. PMID: 7906866

10

SMA carrier testing--validation of hemizygous SMN exon 7 deletion test for the identification of proximal spinal muscular atrophy carriers and patients with a single allele deletion.

Scheffer H, Cobben JM, Mensink RG, Stulp RP, van der Steege G, Buys CH. Scheffer H, et al. Among authors: stulp rp. Eur J Hum Genet. 2000 Feb;8(2):79-86. doi: 10.1038/sj.ejhg.5200404. Eur J Hum Genet. 2000. PMID: 10757638

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