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Thomas Eggermann Selected Research

Syndrome

04/2008	Growth retardation versus overgrowth: Silver-Russell syndrome is genetically opposite to Beckwith-Wiedemann syndrome.
04/2008	The endocrine phenotype in silver-russell syndrome is defined by the underlying epigenetic alteration.
03/2008	IGF2/H19 hypomethylation in Silver-Russell syndrome and isolated hemihypoplasia.
01/2008	Search for subtelomeric imbalances by multiplex ligation-dependent probe amplification in silver-russell syndrome.
01/2008	ICR1 epimutations in llp15 are restricted to patients with Silver-Russell syndrome features.
12/2007	No evidence for additional imprinting defects in silver-russell syndrome patients with maternal uniparental disomy 7 or 11p15 epimutation.
04/2007	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.
02/2007	Mutation analysis of GNAS1 and overlapping transcripts in Silver-Russell syndrome patients.
01/2007	The centromeric 11p15 imprinting centre is also involved in Silver-Russell syndrome.
12/2005	Silver-Russell syndrome-like features in a patient carrying a novel NF1 mutation.
01/2005	Diagnostic proceeding in Silver-Russell syndrome.
07/2004	Searching for genomic variants in IGF2 and CDKN1C in Silver-Russell syndrome patients.
01/2003	Characterization of genomic variants in CSH1 and GH2, two candidate genes for Silver-Russell syndrome in 17q24-q25.
10/2002	Screening for mutations in the gene for phosphorylation kinase gamma1 in Silver-Russell syndrome patients.
09/2002	Screening for insulin-like growth factor-I receptor mutations in patients with Silver-Russell syndrome.

Articles by Research Topic

Disease

15	Syndrome 04/2008 - 09/2002
2	Uniparental Disomy 12/2007 - 01/2006
1	Beckwith-Wiedemann Syndrome (Exomphalos Macroglossia Gigantism Syndrome) 04/2008
1	Hereditary Sensory and Autonomic Neuropathies (HSAN) 02/2008
1	Spinal Muscular Atrophy (Progressive Muscular Atrophy) 04/2007
1	Polycystic Kidney Diseases (Polycystic Kidney Disease) 05/2002

Drug/Important Bio-Agent (IBA)

15	SilverIBA 04/2008 - 09/2002
1	trkA ReceptorIBA 02/2008
1	tebufenozide (Mimic)IBA 04/2007
1	Genetic Markers (Genetic Marker)IBA 01/2006
1	Phosphotransferases (Kinase)IBA 10/2002
1	IGF Type 1 Receptor (IGF 1 Receptor)IBA 09/2002
1	Transcription Factors (Transcription Factor)IBA 05/2002
1	plexinIBA 05/2002
1	Immunoglobulins (Immunoglobulin)IBA 05/2002

Therapy/Procedure

1	Ligation 01/2008