Thomas Eggermann Selected Research

Silver-Russell Syndrome

11/2020	Patient with an autosomal-recessive MBTPS1-linked phenotype and clinical features of Silver-Russell syndrome.
7/2019	Contribution of GRB10 to the prenatal phenotype in Silver-Russell syndrome? Lessons from 7p12 copy number variations.
8/2018	12q14 microdeletion syndrome: A family with short stature and Silver-Russell syndrome (SRS)-like phenotype and review of the literature.
1/2017	The Diagnostic Value of IGF-2 and the IGF/IGFBP-3 System in Silver-Russell Syndrome.
7/2015	Paternally Inherited IGF2 Mutation and Growth Restriction.
11/2014	CDKN1C mutations: two sides of the same coin.
10/2011	Testing of buccal swab DNA does not increase the detection rate for imprinting control region 1 hypomethylation in Silver-Russell syndrome.
6/2010	Silver-Russell syndrome: genetic basis and molecular genetic testing.
3/2008	Search for subtelomeric imbalances by multiplex ligation-dependent probe amplification in Silver-Russell syndrome.
1/2008	ICR1 epimutations in llp15 are restricted to patients with Silver-Russell syndrome features.

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Thomas Eggermann Research Topics

Disease

12	Silver-Russell Syndrome 11/2020 - 09/2002
11	Beckwith-Wiedemann Syndrome (Exomphalos Macroglossia Gigantism Syndrome) 10/2020 - 03/2008
9	Cystinuria 10/2018 - 01/2002
8	Imprinting Disorders 10/2020 - 06/2010
5	Schizophrenia (Dementia Praecox) 01/2011 - 10/2009
4	Uniparental Disomy 10/2020 - 01/2005
2	Trisomy (Trisomies) 10/2021 - 01/2006
2	Fibrosis (Cirrhosis) 04/2021 - 07/2019
2	Congenital Abnormalities (Deformity) 11/2020 - 01/2018
2	And Genital Anomalies Adrenal Hypoplasia Congenita Metaphyseal Dysplasia Intrauterine Growth Retardation 10/2020 - 11/2014
2	Obesity 01/2020 - 01/2018
2	Hypogonadism (Hypergonadotropic Hypogonadism) 01/2020 - 01/2018
2	Type 2 Diabetes Mellitus (MODY) 01/2020 - 01/2018
2	Pseudohypoparathyroidism 01/2020 - 01/2018
2	Hemolysis 12/2019 - 02/2009
2	Type I Xanthinuria 01/2013 - 02/2007
2	Muscle Hypotonia (Hypotonia) 10/2012 - 01/2012
2	Bipolar Disorder (Manic Depressive Psychosis) 01/2011 - 01/2010
2	Mental Disorders (Mental Disorder) 01/2011 - 09/2009
2	HELLP Syndrome 02/2009 - 01/2007
2	Pre-Eclampsia (Preeclampsia) 02/2009 - 01/2008
2	Nephrolithiasis 02/2005 - 10/2002
1	Anemia 03/2022
1	Mitochondrial Diseases (Mitochondrial Disease) 10/2021
1	Atrophy 10/2021
1	Ascites 04/2021
1	Inflammation (Inflammations) 04/2021
1	Neuromuscular Diseases (Neuromuscular Disease) 01/2020
1	Hypothyroidism 01/2020
1	Medulloblastoma 01/2020
1	Myotonic Dystrophy (Dystrophia Myotonica) 01/2020
1	Pilomatrixoma 01/2020
1	Microsatellite Instability 01/2020
1	Brachydactyly 01/2020
1	Paroxysmal Hemoglobinuria (Paroxysmal Nocturnal Hemoglobinuria) 12/2019
1	Liver Cirrhosis (Hepatic Cirrhosis) 07/2019
1	Hypertension (High Blood Pressure) 01/2018
1	Weight Gain 01/2018
1	Glucose Intolerance 01/2018
1	Ovarian Cysts (Ovarian Cyst) 01/2017
1	Antisocial Personality Disorder (Antisocial Personality) 01/2017
1	Arthralgia (Joint Pain) 04/2016
1	Renal hypouricemia 04/2016
1	Liver Failure 04/2016
1	Paraproteinemias (Monoclonal Gammopathy) 04/2016
1	Arthritis (Polyarthritis) 12/2015
1	Negative rheumatoid factor polyarthritis 12/2015
1	Juvenile Arthritis (Juvenile Idiopathic Arthritis) 12/2015
1	Urinary Calculi (Urinary Calculus) 01/2014
1	Aneuploidy (Aneuploid) 11/2013
1	Genetic Predisposition to Disease (Genetic Predisposition) 11/2013
1	Hamartoma 07/2013
1	Fibroadenoma 07/2013
1	Nesidioblastosis (Nesidioblastosis of Pancreas) 07/2013
1	Chromosome Duplication 11/2012

Drug/Important Bio-Agent (IBA)

11	SilverIBA 10/2021 - 10/2008
8	Cystine (L-Cystine)IBA 10/2018 - 01/2002
7	DNA (Deoxyribonucleic Acid)IBA 01/2020 - 01/2005
6	Proteins (Proteins, Gene)FDA Link 10/2021 - 05/2002
3	Amino Acids FDA Link 10/2020 - 01/2002
3	NucleotidesIBA 10/2020 - 01/2007
3	Diamino Amino AcidsIBA 10/2018 - 11/2003
2	Macrophage Migration-Inhibitory FactorsIBA 04/2021 - 07/2019
2	EnzymesIBA 11/2020 - 02/2009
2	Growth Hormone (Somatotropin)IBA 01/2020 - 01/2018
2	Parathyroid Hormone (Parathormone)IBA 01/2020 - 01/2018
2	Intercellular Signaling Peptides and Proteins (Growth Factors)IBA 07/2019 - 02/2010
2	Insulin-Like Growth Factor II (Somatomedin A)IBA 01/2017 - 07/2015
2	Pharmaceutical PreparationsIBA 04/2016 - 05/2010
2	Xanthine DehydrogenaseIBA 01/2013 - 02/2007
2	D-Amino-Acid Oxidase (D-Amino Acid Dehydrogenase)IBA 01/2011 - 09/2009
2	Neuregulin-1 (Neuregulin 1)IBA 11/2010 - 10/2009
2	SRS-AIBA 06/2010 - 01/2008
2	Insulin-Like Growth Factor I (IGF-1)IBA 02/2010 - 09/2002
1	Nonsense Codon (Nonsense Mutation)IBA 03/2022
1	SpectrinIBA 10/2021
1	LipidsIBA 10/2021
1	C-Reactive ProteinIBA 04/2021
1	CytokinesIBA 04/2021
1	Peptide Hydrolases (Proteases)FDA Link 11/2020
1	3' Untranslated Regions (3' UTR)IBA 01/2020
1	G-Protein-Coupled Receptors (Receptors, G Protein Coupled)IBA 01/2020
1	Glycosylphosphatidylinositols (Glycosyl-Phosphatidylinositol)IBA 12/2019
1	Complement System Proteins (Complement)IBA 12/2019
1	GPI-Linked ProteinsIBA 12/2019
1	InflammasomesIBA 12/2019
1	eculizumab FDA Link 12/2019
1	ProteomeIBA 08/2019
1	Carrier Proteins (Binding Protein)IBA 07/2019
1	Monoamine Oxidase (MAO)IBA 01/2017
1	Insulin-Like Growth Factor Binding ProteinsIBA 01/2017
1	Chorionic Gonadotropin (Human Chorionic Gonadotropin)FDA LinkGeneric 01/2017
1	Uric Acid (Urate)IBA 04/2016
1	Immunoglobulin M (IgM)IBA 04/2016
1	Interleukin-12 Subunit p40IBA 12/2015
1	Proliferating Cell Nuclear Antigen (PCNA)IBA 11/2014
1	Cyclin-Dependent Kinases (cdk Proteins)IBA 11/2014
1	Amino Acid Transport Systems (Amino Acid Transporter)IBA 01/2014
1	SteroidsIBA 07/2013

Therapy/Procedure

2	Ligation 11/2019 - 03/2008