Eggermann T - Search Results

1

Heterogeneous growth patterns in carriers of chromosome 7p12.2 imbalances affecting GRB10.

Eggermann T, Begemann M, Gogiel M, Palomares M, Vallespín E, Fernández L, Cazorla R, Spengler S, García-Miñaúr S. Eggermann T, et al. Am J Med Genet A. 2012 Nov;158A(11):2815-9. doi: 10.1002/ajmg.a.35612. Epub 2012 Sep 17. Am J Med Genet A. 2012. PMID: 22987336

2

Report of two new cases of Pallister-Killian syndrome confirmed by FISH: tissue-specific mosaicism and loss of i(12p) by in vitro selection.

Schubert R, Viersbach R, Eggermann T, Hansmann M, Schwanitz G. Schubert R, et al. Among authors: eggermann t. Am J Med Genet. 1997 Oct 3;72(1):106-10. doi: 10.1002/(sici)1096-8628(19971003)72:1<106::aid-ajmg21>3.0.co;2-u. Am J Med Genet. 1997. PMID: 9295085

3

Paternally inherited deletion of CSH1 in a patient with Silver-Russell syndrome.

Eggermann T, Eggermann K, Mergenthaler S, Kuner R, Kaiser P, Ranke MB, Wollmann HA. Eggermann T, et al. Among authors: eggermann k. J Med Genet. 1998 Sep;35(9):784-6. doi: 10.1136/jmg.35.9.784. J Med Genet. 1998. PMID: 9733042 Free PMC article.

4

Human GRB10 is imprinted and expressed from the paternal and maternal allele in a highly tissue- and isoform-specific fashion.

Blagitko N, Mergenthaler S, Schulz U, Wollmann HA, Craigen W, Eggermann T, Ropers HH, Kalscheuer VM. Blagitko N, et al. Among authors: eggermann t. Hum Mol Genet. 2000 Jul 1;9(11):1587-95. doi: 10.1093/hmg/9.11.1587. Hum Mol Genet. 2000. PMID: 10861285

5

Identification of interstitial maternal uniparental disomy (UPD) (14) and complete maternal UPD(20) in a cohort of growth retarded patients.

Eggermann T, Mergenthaler S, Eggermann K, Albers A, Linnemann K, Fusch C, Ranke MB, Wollmann HA. Eggermann T, et al. Among authors: eggermann k. J Med Genet. 2001 Feb;38(2):86-9. doi: 10.1136/jmg.38.2.86. J Med Genet. 2001. PMID: 11158171 Free PMC article.

6

Uniparental disomy: clinical indications for testing in growth retardation.

Eggermann T, Zerres K, Eggermann K, Moore G, Wollmann HA. Eggermann T, et al. Among authors: eggermann k. Eur J Pediatr. 2002 Jun;161(6):305-12. doi: 10.1007/s00431-002-0916-x. Epub 2002 Apr 26. Eur J Pediatr. 2002. PMID: 12029448 Review.

7

Mosaic tetrasomy 14pter-q13 due to a supernumerary isodicentric derivate of proximal chromosome 14q.

Eggermann T, Gamerdinger U, Bosse K, Heidrich-Kaul C, Raff R, Meyer E, Heil I, Schüler H, Korsch E, Schwanitz G. Eggermann T, et al. Am J Med Genet A. 2005 Apr 30;134(3):305-8. doi: 10.1002/ajmg.a.30631. Am J Med Genet A. 2005. PMID: 15723300 Review.

8

Diagnostic proceeding in Silver-Russell syndrome.

Eggermann T, Meyer E, Ranke MB, Holder M, Spranger S, Zerres K, Wollmann HA. Eggermann T, et al. Mol Diagn. 2005;9(4):205-9. doi: 10.1007/BF03260093. Mol Diagn. 2005. PMID: 16392900

9

(Epi)mutations in 11p15 significantly contribute to Silver-Russell syndrome: but are they generally involved in growth retardation?

Schönherr N, Meyer E, Eggermann K, Ranke MB, Wollmann HA, Eggermann T. Schönherr N, et al. Among authors: eggermann k, eggermann t. Eur J Med Genet. 2006 Sep-Oct;49(5):414-8. doi: 10.1016/j.ejmg.2006.03.001. Epub 2006 Mar 29. Eur J Med Genet. 2006. PMID: 16603426

10

Submicroscopic unbalanced translocation resulting in del10p/dup13q detected by subtelomere FISH.

Roos A, Rudnik-Schöneborn S, Eggermann K, Eggermann T, Senderek J, Schwanitz G, Zerres K, Schüler HM. Roos A, et al. Among authors: eggermann k, eggermann t. Eur J Med Genet. 2006 Nov-Dec;49(6):505-10. doi: 10.1016/j.ejmg.2006.06.002. Epub 2006 Aug 4. Eur J Med Genet. 2006. PMID: 16905374

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

356 results

Search Page

Filters