Eggermann T - Search Results

1

Molecular karyotyping as a relevant diagnostic tool in children with growth retardation with Silver-Russell features.

Spengler S, Begemann M, Ortiz Brüchle N, Baudis M, Denecke B, Kroisel PM, Oehl-Jaschkowitz B, Schulze B, Raabe-Meyer G, Spaich C, Blümel P, Jauch A, Moog U, Zerres K, Eggermann T. Spengler S, et al. Among authors: eggermann t. J Pediatr. 2012 Nov;161(5):933-42. doi: 10.1016/j.jpeds.2012.04.045. Epub 2012 Jun 8. J Pediatr. 2012. PMID: 22683032

2

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.

3

Origin of uniparental disomy 6: presentation of a new case and review on the literature.

Eggermann T, Marg W, Mergenthaler S, Eggermann K, Schemmel V, Stoffers U, Zerres K, Spranger S. Eggermann T, et al. Among authors: eggermann k. Ann Genet. 2001 Jan-Mar;44(1):41-5. doi: 10.1016/s0003-3995(01)01035-8. Ann Genet. 2001. PMID: 11334617 Review.

4

[Uniparental disomy 7 in the pathogenesis of Silver-Russell syndrome].

Mergenthaler S, Dobos M, Wollmann H, Eggermann K, Schwanitz G, Eggermann T. Mergenthaler S, et al. Among authors: eggermann k, eggermann t. Orv Hetil. 2001 Jul 22;142(29):1561-4. Orv Hetil. 2001. PMID: 11494748 Hungarian.

5

DNA diagnosis in hereditary nephropathies.

Zerres K, Eggermann T, Rudnik-Schöneborn S. Zerres K, et al. Among authors: eggermann t. Clin Nephrol. 2001 Sep;56(3):181-92. Clin Nephrol. 2001. PMID: 11597032

6

[Molecular biology of cystinuria].

Albers A, Wagner CA, Schmidt C, Lahme S, Bichler KH, Lang F, Zerres K, Eggermann T. Albers A, et al. Among authors: eggermann t. Fortschr Med Orig. 2001;119(1):49-50. Fortschr Med Orig. 2001. PMID: 11935659 German.

7

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.

8

Analysis of the genes SLC7A9 and SLC3A1 in unclassified cystinurics: mutation detection rates and association between variants in SLC7A9 and the disease.

Schmidt C, Albers A, Tomiuk J, Eggermann K, Wagner C, Capasso G, Lahme S, Hesse A, Lang F, Zerres K, Eggermann T. Schmidt C, et al. Among authors: eggermann k, eggermann t. Clin Nephrol. 2002 May;57(5):342-8. doi: 10.5414/cnp57342. Clin Nephrol. 2002. PMID: 12036192

9

Phenotype diversity in familial cylindromatosis: a frameshift mutation in the tumor suppressor gene CYLD underlies different tumors of skin appendages.

Poblete Gutiérrez P, Eggermann T, Höller D, Jugert FK, Beermann T, Grussendorf-Conen EI, Zerres K, Merk HF, Frank J. Poblete Gutiérrez P, et al. Among authors: eggermann t. J Invest Dermatol. 2002 Aug;119(2):527-31. doi: 10.1046/j.1523-1747.2002.01839.x. J Invest Dermatol. 2002. PMID: 12190880 Free article.

10

Allelic variants in the 5' non-coding region of the connexin32 gene: possible pitfalls in the diagnosis of X linked Charcot-Marie-Tooth neuropathy (CMTX).

Bergmann C, Zerres K, Rudnik-Schöneborn S, Eggermann T, Schröder JM, Senderek J. Bergmann C, et al. Among authors: eggermann t. J Med Genet. 2002 Sep;39(9):e58. doi: 10.1136/jmg.39.9.e58. J Med Genet. 2002. PMID: 12205128 Free PMC article. No abstract available.

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