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T Eggermann Selected Research

Syndrome

01/2008	Use of multiplex ligation-dependent probe amplification increases the detection rate for 11p15 epigenetic alterations in Silver-Russell syndrome.
11/2006	IGF-II serum levels are normal in children with Silver-Russell syndrome who frequently carry epimutations at the IGF2 locus.
09/2006	(Epi)mutations in 11p15 significantly contribute to Silver-Russell syndrome: but are they generally involved in growth retardation?
07/2006	Epigenetic mutations in 11p15 in Silver-Russell syndrome are restricted to the telomeric imprinting domain.
05/2005	Is maternal duplication of 11p15 associated with Silver-Russell syndrome?
04/2005	Analysis of genomic variants in the KCNQ1OT1 transcript in Silver-Russell syndrome patients.
01/2004	Quantification of GRB10 in 7p12-p14 by fluorogenic 5' nuclease chemistry and application for genetic diagnosis in Silver-Russell syndrome.
05/2003	Searching for genomic variants in the MESTIT1 transcript in Silver-Russell syndrome patients.
04/2003	Genomic characterisation of C7orf10 in Silver-Russell syndrome patients.
12/2001	Evidence from skewed X inactivation for trisomy mosaicism in Silver-Russell syndrome.
11/2001	Segmental uniparental disomy of 7q31-qter is rare in Silver-Russell syndrome.
07/2001	[Uniparental disomy 7 in the pathogenesis of Silver-Russell syndrome]
05/2001	IRS1 and GRB2 as members of the IGF signal transduction pathway are not associated with intrauterine growth retardation and Silver-Russell syndrome.
01/2001	Gene dosage analysis in Silver-Russell syndrome: use of quantitative competitive PCR and dual-color FISH to estimate the frequency of duplications in 7p11.2-p13.
12/2000	Exclusion of a disease relevant role of PAX4 in the aetiology of Silver-Russell syndrome: screening for mutations and determination of imprinting status.
07/2000	Identification of two new polymorphisms (c2447-125A>G; c2532G>A) in the gamma 2-COP (COPG2) gene by screening of Silver-Russell syndrome patients.

Articles by Research Topic

Disease

16	Syndrome 01/2008 - 07/2000
2	Trisomy 12/2001 - 05/2000
2	Uniparental Disomy 11/2001 - 07/2001
1	Fetal Growth Retardation (Intrauterine Growth Retardation) 05/2001
1	Monosomy 05/2000

Drug/Important Bio-Agent (IBA)

16	SilverIBA 01/2008 - 07/2000
1	Insulin-Like Growth Factor II (Somatomedin A)IBA 11/2006
1	DNA (Deoxyribonucleic Acid)IBA 05/2000

Therapy/Procedure

1	Ligation 01/2008