Guillaume Velasco Selected Research

variable Immunodeficiency syndrome

1/2023	Novel compound heterozygous mutations in UHRF1 are associated with atypical immunodeficiency, centromeric instability and facial anomalies syndrome with distinctive genome-wide DNA hypomethylation.
1/2019	CDCA7 and HELLS mutations undermine nonhomologous end joining in centromeric instability syndrome.
1/2017	Telomeres in ICF syndrome cells are vulnerable to DNA damage due to elevated DNA:RNA hybrids.
9/2014	Dnmt3b Prefers Germ Line Genes and Centromeric Regions: Lessons from the ICF Syndrome and Cancer and Implications for Diseases.
4/2014	Germline genes hypomethylation and expression define a molecular signature in peripheral blood of ICF patients: implications for diagnosis and etiology.
7/2013	Three novel ZBTB24 mutations identified in Japanese and Cape Verdean type 2 ICF syndrome patients.

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Guillaume Velasco Research Topics

Disease

6	variable Immunodeficiency syndrome 01/2023 - 07/2013
6	Neoplasms (Cancer) 01/2017 - 01/2008
3	Breast Neoplasms (Breast Cancer) 09/2015 - 01/2008
2	Carcinogenesis 01/2017 - 11/2011
1	Neurodevelopmental Disorders 04/2021
1	Aneuploidy (Aneuploid) 01/2017
1	Pancytopenia 02/2016
1	Chromosomal Instability (Chromosome Stability) 09/2014
1	Intellectual Disability (Idiocy) 04/2014
1	Reinfection 04/2014
1	Myotonic Dystrophy (Dystrophia Myotonica) 01/2011
1	Genomic Instability 05/2010

Drug/Important Bio-Agent (IBA)

4	Protein Isoforms (Isoforms)IBA 09/2015 - 01/2011
3	DNA (Deoxyribonucleic Acid)IBA 01/2023 - 07/2013
3	Vascular Endothelial Growth Factor A (Vascular Endothelial Growth Factor)IBA 09/2015 - 01/2008
2	Biomarkers (Surrogate Marker)IBA 04/2021 - 04/2014
2	ChromatinIBA 01/2019 - 05/2010
2	HeterochromatinIBA 01/2017 - 09/2014
1	MethyltransferasesIBA 01/2023
1	Proteins (Proteins, Gene)FDA Link 01/2019
1	anthraceneIBA 01/2017
1	Acetates (Acetic Acid Esters)FDA Link 01/2017
1	Carrier Proteins (Binding Protein)IBA 01/2017
1	RNA (Ribonucleic Acid)IBA 01/2017
1	Immunoglobulins (Immunoglobulin)IBA 04/2014
1	CytosineIBA 05/2010
1	LuciferasesIBA 02/2008
1	Estrogen Receptor alphaIBA 02/2008
1	beta-Globins (beta Globin)IBA 02/2008
1	Estrogen ReceptorsIBA 02/2008
1	Estrogens (Estrogen)FDA Link 02/2008
1	Neuropilin-1IBA 01/2008

Therapy/Procedure

1	Hematopoietic Stem Cell Transplantation 02/2016