Schulze E - Search Results

1

Primary hyperparathyroidism as the leading symptom in a patient with a Y791F RET mutation.

Vierhapper H, Rondot S, Schulze E, Wagner L, Hanslik S, Niederle B, Bieglmayer C, Kaserer K, Baumgartner-Parzer S. Vierhapper H, et al. Among authors: schulze e. Thyroid. 2005 Nov;15(11):1303-8. doi: 10.1089/thy.2005.15.1303. Thyroid. 2005. PMID: 16356097

2

Mutational spectrum of the steroid 21-hydroxylase gene in Austria: identification of a novel missense mutation.

Baumgartner-Parzer SM, Schulze E, Waldhäusl W, Pauschenwein S, Rondot S, Nowotny P, Meyer K, Frisch H, Waldhauser F, Vierhapper H. Baumgartner-Parzer SM, et al. Among authors: schulze e. J Clin Endocrinol Metab. 2001 Oct;86(10):4771-5. doi: 10.1210/jcem.86.10.7898. J Clin Endocrinol Metab. 2001. PMID: 11600539

3

Change in the spectrum of RET mutations diagnosed between 1994 and 2006.

Frank-Raue K, Rondot S, Schulze E, Raue F. Frank-Raue K, et al. Among authors: schulze e. Clin Lab. 2007;53(5-6):273-82. Clin Lab. 2007. PMID: 17605401

4

Prevalence and clinical spectrum of nonsecretory medullary thyroid carcinoma in a series of 839 patients with sporadic medullary thyroid carcinoma.

Frank-Raue K, Machens A, Leidig-Bruckner G, Rondot S, Haag C, Schulze E, Lorenz A, Kreissl MC, Dralle H, Raue F, Schmid KW. Frank-Raue K, et al. Among authors: schulze e. Thyroid. 2013 Mar;23(3):294-300. doi: 10.1089/thy.2012.0236. Epub 2013 Jan 11. Thyroid. 2013. PMID: 22946486

5

Distinct clinical phenotypes in a family with a novel truncating MEN1 frameshift mutation.

Welsch C, Flügel AK, Rondot S, Schulze E, Sircar I, Nußbaumer J, Bojunga J. Welsch C, et al. Among authors: schulze e. BMC Endocr Disord. 2022 Mar 14;22(1):64. doi: 10.1186/s12902-022-00978-9. BMC Endocr Disord. 2022. PMID: 35287658 Free PMC article.

6

New mutations in the RET protooncogene-L881V - associated with medullary thyroid carcinoma and -R770Q - in a patient with mixed medullar/follicular thyroid tumour.

Frank-Raue K, Döhring J, Scheumann G, Rondot S, Lorenz A, Schulze E, Dralle H, Raue F, Leidig-Bruckner G. Frank-Raue K, et al. Among authors: schulze e. Exp Clin Endocrinol Diabetes. 2010 Aug;118(8):550-3. doi: 10.1055/s-0029-1241851. Epub 2009 Dec 11. Exp Clin Endocrinol Diabetes. 2010. PMID: 20013610

7

[Hereditary variants of primary hyperparathyroidism--MEN1, MEN2, HPT-JT, FHH, FIHPT].

Frank-Raue K, Leidig-Bruckner G, Lorenz A, Rondot S, Haag C, Schulze E, Büchler M, Raue F. Frank-Raue K, et al. Among authors: schulze e. Dtsch Med Wochenschr. 2011 Sep;136(38):1889-94. doi: 10.1055/s-0031-1286358. Epub 2011 Sep 13. Dtsch Med Wochenschr. 2011. PMID: 21915802 German.

8

[Hereditary medullary thyroid carcinoma--genotype-phenotype characterization].

Frank-Raue K, Heimbach C, Rondot S, Usadel KH, Meng W, Varma C, Fuchs-Hammoser R, Höppner W, Schulze E, Raue F. Frank-Raue K, et al. Among authors: schulze e. Dtsch Med Wochenschr. 2003 Sep 26;128(39):1998-2002. doi: 10.1055/s-2003-42555. Dtsch Med Wochenschr. 2003. PMID: 14508694 German.

9

Clinical utility gene card for: multiple endocrine neoplasia type 2.

Raue F, Rondot S, Schulze E, Szpak-Ulczok S, Jarzab B, Frank-Raue K. Raue F, et al. Among authors: schulze e. Eur J Hum Genet. 2012 Jan;20(1). doi: 10.1038/ejhg.2011.142. Epub 2011 Aug 24. Eur J Hum Genet. 2012. PMID: 21863057 Free PMC article. No abstract available.

10

A homozygous L299P mutation in the CYP11B1 gene leads to complete virilization in 46,XX individuals with 11-beta-hydroxylase deficiency.

Riedl S, Nguyen HH, Clausmeyer S, Schulze E, Waldhauser F, Bernhardt R. Riedl S, et al. Among authors: schulze e. Horm Res. 2008;70(3):145-9. doi: 10.1159/000137659. Epub 2008 Jul 29. Horm Res. 2008. PMID: 18663314

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