Stulp RP - Search Results

1

Homozygous deletion of the survival motor neuron 2 gene is a prognostic factor in sporadic ALS.

Veldink JH, van den Berg LH, Cobben JM, Stulp RP, De Jong JM, Vogels OJ, Baas F, Wokke JH, Scheffer H. Veldink JH, et al. Among authors: stulp rp. Neurology. 2001 Mar 27;56(6):749-52. doi: 10.1212/wnl.56.6.749. Neurology. 2001. PMID: 11274309

2

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

3

Hereditary myokymia and paroxysmal ataxia linked to chromosome 12 is responsive to acetazolamide.

Lubbers WJ, Brunt ER, Scheffer H, Litt M, Stulp R, Browne DL, van Weerden TW. Lubbers WJ, et al. J Neurol Neurosurg Psychiatry. 1995 Oct;59(4):400-5. doi: 10.1136/jnnp.59.4.400. J Neurol Neurosurg Psychiatry. 1995. PMID: 7561920 Free PMC article.

4

Analysis of a metastasizing testicular mixed gonadal stromal tumor with osteosarcoma components suggests that a malignant tumor with the histology of osteosarcoma may develop without primary involvement of RB1 and TP53.

Reuvekamp PT, Stulp RP, Schraffordt Koops H, Oosterhuis JW, Scheffer H, Buys CH. Reuvekamp PT, et al. Among authors: stulp rp. Cancer Res. 1992 Dec 1;52(23):6705-7. Cancer Res. 1992. PMID: 1423318

5

Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion.

Jonkman MF, Scheffer H, Stulp R, Pas HH, Nijenhuis M, Heeres K, Owaribe K, Pulkkinen L, Uitto J. Jonkman MF, et al. Cell. 1997 Feb 21;88(4):543-51. doi: 10.1016/s0092-8674(00)81894-2. Cell. 1997. PMID: 9038345 Free article.

6

Implications of intragenic marker homozygosity and haplotype sharing in a rare autosomal recessive disorder: the example of the collagen type XVII (COL17A1) locus in generalised atrophic benign epidermolysis bullosa.

Scheffer H, Stulp RP, Verlind E, van der Meulen M, Bruckner-Tuderman L, Gedde-Dahl T Jr, te Meerman GJ, Sonnenberg A, Buys CH, Jonkman MF. Scheffer H, et al. Among authors: stulp rp. Hum Genet. 1997 Aug;100(2):230-5. doi: 10.1007/s004390050496. Hum Genet. 1997. PMID: 9254855

7

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

8

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

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

10

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

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