Eggermann T - Search Results

1

Genetic testing in inherited endocrine disorders: joint position paper of the European reference network on rare endocrine conditions (Endo-ERN).

Eggermann T, Elbracht M, Kurth I, Juul A, Johannsen TH, Netchine I, Mastorakos G, Johannsson G, Musholt TJ, Zenker M, Prawitt D, Pereira AM, Hiort O; European Reference Network on Rare Endocrine Conditions (ENDO-ERN. Eggermann T, et al. Orphanet J Rare Dis. 2020 Jun 8;15(1):144. doi: 10.1186/s13023-020-01420-w. Orphanet J Rare Dis. 2020. PMID: 32513286 Free PMC article. Review.

2

Autosomal recessive postlingual hearing loss (DFNB8): compound heterozygosity for two novel TMPRSS3 mutations in German siblings.

Elbracht M, Senderek J, Eggermann T, Thürmer C, Park J, Westhofen M, Zerres K. Elbracht M, et al. Among authors: eggermann t. J Med Genet. 2007 Jun;44(6):e81. doi: 10.1136/jmg.2007.049122. J Med Genet. 2007. PMID: 17551081 Free PMC article.

3

A new splice site mutation in the SMN1 gene causes discrepant results in SMN1 deletion screening approaches.

Eggermann T, Eggermann K, Elbracht M, Zerres K, Rudnik-Schöneborn S. Eggermann T, et al. Among authors: eggermann k. Neuromuscul Disord. 2008 Feb;18(2):146-9. doi: 10.1016/j.nmd.2007.10.003. Epub 2007 Dec 21. Neuromuscul Disord. 2008. PMID: 18155522

4

A 10.7 Mb interstitial deletion of 13q21 without phenotypic effect defines a further non-pathogenic euchromatic variant.

Roos A, Elbracht M, Baudis M, Senderek J, Schönherr N, Eggermann T, Schüler HM. Roos A, et al. Among authors: eggermann t. Am J Med Genet A. 2008 Sep 15;146A(18):2417-20. doi: 10.1002/ajmg.a.32465. Am J Med Genet A. 2008. PMID: 18698619

5

Silver-Russell syndrome: genetic basis and molecular genetic testing.

Eggermann T, Begemann M, Binder G, Spengler S. Eggermann T, et al. Orphanet J Rare Dis. 2010 Jun 23;5:19. doi: 10.1186/1750-1172-5-19. Orphanet J Rare Dis. 2010. PMID: 20573229 Free PMC article. Review.

6

Cystinuria: an inborn cause of urolithiasis.

Eggermann T, Venghaus A, Zerres K. Eggermann T, et al. Orphanet J Rare Dis. 2012 Apr 5;7:19. doi: 10.1186/1750-1172-7-19. Orphanet J Rare Dis. 2012. PMID: 22480232 Free PMC article. Review.

7

Epigenetic and genetic diagnosis of Silver-Russell syndrome.

Eggermann T, Spengler S, Gogiel M, Begemann M, Elbracht M. Eggermann T, et al. Expert Rev Mol Diagn. 2012 Jun;12(5):459-71. doi: 10.1586/erm.12.43. Expert Rev Mol Diagn. 2012. PMID: 22702363 Review.

8

Congenital imprinting disorders: a novel mechanism linking seemingly unrelated disorders.

Eggermann T, Elbracht M, Schröder C, Reutter H, Soellner L, Spengler S, Begemann M. Eggermann T, et al. J Pediatr. 2013 Oct;163(4):1202-7. doi: 10.1016/j.jpeds.2013.05.017. Epub 2013 Jul 1. J Pediatr. 2013. PMID: 23809048 No abstract available.

9

Clinical utility gene card for: Beckwith-Wiedemann Syndrome.

Eggermann T, Algar E, Lapunzina P, Mackay D, Maher ER, Mannens M, Netchine I, Prawitt D, Riccio A, Temple IK, Weksberg R. Eggermann T, et al. Eur J Hum Genet. 2014 Mar;22(3). doi: 10.1038/ejhg.2013.132. Epub 2013 Jul 3. Eur J Hum Genet. 2014. PMID: 23820480 Free PMC article. No abstract available.

10

CDKN1C mutations: two sides of the same coin.

Eggermann T, Binder G, Brioude F, Maher ER, Lapunzina P, Cubellis MV, Bergadá I, Prawitt D, Begemann M. Eggermann T, et al. Trends Mol Med. 2014 Nov;20(11):614-22. doi: 10.1016/j.molmed.2014.09.001. Epub 2014 Sep 25. Trends Mol Med. 2014. PMID: 25262539 Review.

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