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Matthias Begemann Selected Research

Beckwith-Wiedemann Syndrome (Exomphalos Macroglossia Gigantism Syndrome)

10/2020Need for a precise molecular diagnosis in Beckwith-Wiedemann and Silver-Russell syndrome: what has to be considered and why it is important.
11/2019Male infant with paternal uniparental diploidy mosaicism and a 46,XX/46,XY karyotype.
10/2016EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome.
11/2014CDKN1C mutations: two sides of the same coin.
7/2013Genome-wide paternal uniparental disomy mosaicism in a woman with Beckwith-Wiedemann syndrome and ovarian steroid cell tumour.
11/2012Heterogeneous growth patterns in carriers of chromosome 7p12.2 imbalances affecting GRB10.
9/2012Clinical significance of copy number variations in the 11p15.5 imprinting control regions: new cases and review of the literature.

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Matthias Begemann Research Topics

Disease

7Beckwith-Wiedemann Syndrome (Exomphalos Macroglossia Gigantism Syndrome)
10/2020 - 09/2012
7Imprinting Disorders
10/2020 - 06/2010
5Silver-Russell Syndrome
07/2019 - 06/2010
2Uniparental Disomy
10/2020 - 07/2013
1Acute Myeloid Leukemia (Acute Myelogenous Leukemia)
01/2021
1Werner Syndrome (Werner's Syndrome)
01/2021
1Intellectual Disability (Idiocy)
04/2020
1Muscle Hypotonia (Hypotonia)
04/2020
1Muscle Weakness
01/2020
1Medulloblastoma
01/2020
1Muscular Diseases (Myopathy)
01/2020
1Nervous System Diseases (Neurological Disorders)
01/2019
1Ovarian Cysts (Ovarian Cyst)
01/2017
1And Genital Anomalies Adrenal Hypoplasia Congenita Metaphyseal Dysplasia Intrauterine Growth Retardation
11/2014
1Nesidioblastosis (Nesidioblastosis of Pancreas)
07/2013
1Fibroadenoma
07/2013
1Hamartoma
07/2013
1Chromosome Duplication
11/2012
1Megalencephaly
06/2010

Drug/Important Bio-Agent (IBA)

6SilverIBA
10/2020 - 09/2012
2NucleotidesIBA
10/2020 - 05/2012
2DNA (Deoxyribonucleic Acid)IBA
11/2019 - 10/2011
1SpectrinIBA
04/2020
1Creatine Kinase (Creatine Phosphokinase)IBA
01/2020
1Proteins (Proteins, Gene)FDA Link
01/2020
1G-Protein-Coupled Receptors (Receptors, G Protein Coupled)IBA
01/2020
1Intercellular Signaling Peptides and Proteins (Growth Factors)IBA
07/2019
1Carrier Proteins (Binding Protein)IBA
07/2019
1CeramidesIBA
01/2019
1Chorionic Gonadotropin (Human Chorionic Gonadotropin)FDA LinkGeneric
01/2017
1Insulin-Like Growth Factor II (Somatomedin A)IBA
07/2015
1Proliferating Cell Nuclear Antigen (PCNA)IBA
11/2014
1Cyclin-Dependent Kinases (cdk Proteins)IBA
11/2014
1SteroidsIBA
07/2013
1SRS-AIBA
06/2010

Therapy/Procedure

1Stem Cell Transplantation
01/2021
1Ligation
11/2019