Eggermann T - Search Results

1

Mosaicism and uniparental disomy in prenatal diagnosis.

Eggermann T, Soellner L, Buiting K, Kotzot D. Eggermann T, et al. Trends Mol Med. 2015 Feb;21(2):77-87. doi: 10.1016/j.molmed.2014.11.010. Epub 2014 Dec 2. Trends Mol Med. 2015. PMID: 25547535 Review.

2

[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.

3

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.

4

Uniparental disomy and Robertsonian translocations: risk estimation and prenatal testing.

Eggermann T, Zerres K. Eggermann T, et al. Mol Diagn. 2003;7(2):113-7. doi: 10.1007/BF03260026. Mol Diagn. 2003. PMID: 14580230

5

Maternal uniparental disomy 16 and genetic counseling: new case and survey of published cases.

Eggermann T, Curtis M, Zerres K, Hughes HE. Eggermann T, et al. Genet Couns. 2004;15(2):183-90. Genet Couns. 2004. PMID: 15287418 Review.

6

Somatic mosaicism for a heterozygous deletion of the survival motor neuron (SMN1) gene.

Eggermann T, Zerres K, Anhuf D, Kotzot D, Fauth C, Rudnik-Schöneborn S. Eggermann T, et al. Eur J Hum Genet. 2005 Mar;13(3):309-13. doi: 10.1038/sj.ejhg.5201268. Eur J Hum Genet. 2005. PMID: 15586177

7

A rapid microarray based whole genome analysis for detection of uniparental disomy.

Altug-Teber O, Dufke A, Poths S, Mau-Holzmann UA, Bastepe M, Colleaux L, Cormier-Daire V, Eggermann T, Gillessen-Kaesbach G, Bonin M, Riess O. Altug-Teber O, et al. Among authors: eggermann t. Hum Mutat. 2005 Aug;26(2):153-9. doi: 10.1002/humu.20198. Hum Mutat. 2005. PMID: 15968682

8

Supernumerary marker chromosome 7 and maternal uniparental disomy 7 in a boy with growth retardation and triangular face.

Eggermann T, Krause-Plonka I, Wollmann HA, Zerres K, Dai G, Meyer E, Bartsch O. Eggermann T, et al. Clin Dysmorphol. 2006 Jan;15(1):9-12. doi: 10.1097/01.mcd.0000181605.55382.9a. Clin Dysmorphol. 2006. PMID: 16317300

9

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

10

Two complementary recombinant chromosomes 5 in a healthy woman.

Bartsch O, Ergun MA, Balci S, Kan D, Eggermann T, Kotzot D. Bartsch O, et al. Among authors: eggermann t. Cytogenet Genome Res. 2006;114(2):178-82. doi: 10.1159/000093336. Cytogenet Genome Res. 2006. PMID: 16825772

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