Suchergebnisse - "Eggermann, Thomas"

PubPharm (11)

1

Genetic (Re-)evaluation to Optimize the Care of Adults With Intellectual Disability

enthalten in: Deutsches Arzteblatt international | 2022

von Knopp, C. | Steiner, R. | Lausberg, E. | +11

CommentOn: Genet Med. 2022 Jul;24(7):1536-1544. - PMID 35416776

2

Heterogeneous phenotypes in families with duplications of the paternal allele within the imprinting center 1 (H19/IGF2:TSS-DMR) in 11p15.5

enthalten in: Clinical genetics | 2020

von Eggermann, T. | Kraft, F. | Kloth, K. | +4

3

Revisiting Wilms tumour surveillance in Beckwith-Wiedemann syndrome with IC2 methylation loss, reply

enthalten in: European journal of human genetics : EJHG | 2018

von Brioude, F. | Hennekam, R. | Bliek, J. | +10

CommentOn: Eur J Hum Genet. 2017 Sep;25(9):1031-1039. - PMID 28699632

4

No major contribution of IGF2 variants to the etiology of sporadic 11p15-associated imprinting disorders

enthalten in: American journal of medical genetics. Part A | 2016

von Müller, A. | Soellner, L. | Binder, G. | +2

5

CTLA4 polymorphisms in minimal change nephrotic syndrome in children : a case-control study

enthalten in: American journal of kidney diseases : the official journal of the National Kidney Foundation | 2014

von Ohl, K. | Eberhardt, C. | Spink, C. | +8

6

Mosaic tetrasomy 14pterq13.1 : longitudinal study

enthalten in: European journal of medical genetics | 2011

von Schwanitz, G. | Korsch, E. | Kremens-Korsch, U. | +6

7

Hypomethylation in the 11p15 telomeric imprinting domain in a patient with Silver-Russell syndrome with a CSH1 deletion (17q24) renders a functional role of this alteration unlikely

enthalten in: Journal of medical genetics | 2007

von Eggermann, T. | Schönherr, N. | Eggermann, K. | +1

8

Mutation analysis of GNAS1 and overlapping transcripts in Silver-Russell syndrome patients

enthalten in: Molecular genetics and metabolism | 2007

von Eggermann, T. | Meyer, E. | Schönherr, N. | +4

9

Maternal uniparental disomy 14 in a 15-year-old boy with normal karyotype and no evidence of precocious puberty

enthalten in: American journal of medical genetics. Part A | 2005

von Aretz, S. | Raff, R. | Woelfle, J. | +4

10

Rare proximal interstitial deletion of chromosome 4q, del(4)(q13.2q21.22) : New case and comparison with the literature

enthalten in: American journal of medical genetics. Part A | 2005

von Eggermann, K. | Bergmann, C. | Heil, I. | +3