Ris-Stalpers C - Search Results

1

Unique skin changes in a case of Albright hereditary osteodystrophy caused by a rare GNAS1 mutation.

Klaassens M, Blom EW, Schrander JJ, Ris-Stalpers C, Nieuwenhuijzen Kruseman AC, van Steensel MA, Schrander-Stumpel CT. Klaassens M, et al. Br J Dermatol. 2010 Mar;162(3):690-4. doi: 10.1111/j.1365-2133.2009.09543.x. Epub 2009 Oct 26. Br J Dermatol. 2010. PMID: 19863504

2

Characterization of a novel loss-of-function mutation of PAX8 associated with congenital hypothyroidism.

Di Palma T, Zampella E, Filippone MG, Macchia PE, Ris-Stalpers C, de Vroede M, Zannini M. Di Palma T, et al. Clin Endocrinol (Oxf). 2010 Dec;73(6):808-14. doi: 10.1111/j.1365-2265.2010.03851.x. Clin Endocrinol (Oxf). 2010. PMID: 20718765

3

Successful transfer to sulfonylurea therapy in an infant with developmental delay, epilepsy and neonatal diabetes (DEND) syndrome and a novel ABCC8 gene mutation.

Zwaveling-Soonawala N, Hagebeuk EE, Slingerland AS, Ris-Stalpers C, Vulsma T, van Trotsenburg AS. Zwaveling-Soonawala N, et al. Diabetologia. 2011 Feb;54(2):469-71. doi: 10.1007/s00125-010-1981-8. Epub 2010 Nov 26. Diabetologia. 2011. PMID: 21109997 Free PMC article. No abstract available.

4

Absence of activating mutations in ras and gsp oncogenes in a cohort of nine patients with sporadic pediatric thyroid tumors.

Pauws E, Tummers RF, Ris-Stalpers C, de Vijlder JJ, Voûte T. Pauws E, et al. Med Pediatr Oncol. 2001 Jun;36(6):630-4. doi: 10.1002/mpo.1140. Med Pediatr Oncol. 2001. PMID: 11344494

5

Hyperemesis gravidarum severity, enteral tube feeding and cardiometabolic markers in offspring cord blood.

Nijsten K, Koot MH, Bais JMJ, Ris-Stalpers C, van Eekelen R, Bremer HA, van der Ham DP, Heidema WM, Huisjes A, Kleiverda G, Kruizenga H, Kuppens SM, van Laar JOEH, Langenveld J, van der Made F, Papatsonis D, Pelinck MJ, Pernet PJ, van Rheenen-Flach L, Rijnders RJ, Scheepers HCJ, Vogelvang T, Mol BW, Grooten IJ, Roseboom TJ, Painter RC. Nijsten K, et al. Among authors: ris stalpers c. Br J Nutr. 2022 Dec 28;128(12):2421-2431. doi: 10.1017/S0007114522000587. Epub 2022 Feb 24. Br J Nutr. 2022. PMID: 35197140 Free PMC article.

6

Importance of the content and localization of tyrosine residues for thyroxine formation within the N-terminal part of human thyroglobulin.

den Hartog MT, Sijmons CC, Bakker O, Ris-Stalpers C, de Vijlder JJ. den Hartog MT, et al. Eur J Endocrinol. 1995 May;132(5):611-7. doi: 10.1530/eje.0.1320611. Eur J Endocrinol. 1995. PMID: 7749504

7

Type II and type III deiodinase activity in human placenta as a function of gestational age.

Koopdonk-Kool JM, de Vijlder JJ, Veenboer GJ, Ris-Stalpers C, Kok JH, Vulsma T, Boer K, Visser TJ. Koopdonk-Kool JM, et al. J Clin Endocrinol Metab. 1996 Jun;81(6):2154-8. doi: 10.1210/jcem.81.6.8964844. J Clin Endocrinol Metab. 1996. PMID: 8964844

8

The revised 8307 base pair coding sequence of human thyroglobulin transiently expressed in eukaryotic cells.

van de Graaf SA, Pauws E, de Vijlder JJ, Ris-Stalpers CR. van de Graaf SA, et al. Eur J Endocrinol. 1997 May;136(5):508-15. doi: 10.1530/eje.0.1360508. Eur J Endocrinol. 1997. PMID: 9186272

9

Inborn errors of thyroid hormone biosynthesis.

de Vijlder JJ, Ris-Stalpers C, Vulsma T. de Vijlder JJ, et al. Exp Clin Endocrinol Diabetes. 1997;105 Suppl 4:32-7. Exp Clin Endocrinol Diabetes. 1997. PMID: 9439912 Review.

10

Two frequent missense mutations in Pendred syndrome.

Van Hauwe P, Everett LA, Coucke P, Scott DA, Kraft ML, Ris-Stalpers C, Bolder C, Otten B, de Vijlder JJ, Dietrich NL, Ramesh A, Srisailapathy SC, Parving A, Cremers CW, Willems PJ, Smith RJ, Green ED, Van Camp G. Van Hauwe P, et al. Hum Mol Genet. 1998 Jul;7(7):1099-104. doi: 10.1093/hmg/7.7.1099. Hum Mol Genet. 1998. PMID: 9618166

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