Coordinated orphan disease research: yes, we can!

由 Vanakker, Olivier M.
出版 2013

From variome to phenome: Pathogenesis, diagnosis and management of ectopic mineralization disorders

由 De Vilder, Eva YG, Vanakker, Olivier M
發表在 World J Clin Cases (2015)

Hereditary Connective Tissue Diseases in Young Adult Stroke: A Comprehensive Synthesis

由 Vanakker, Olivier M., Hemelsoet, Dimitri, De Paepe, Anne
出版 2011

The ABCC6 transporter: what lessons can be learnt from other ATP-binding cassette transporters?

由 Vanakker, Olivier M., Hosen, Mohammad J., Paepe, Anne De
出版 2013

GGCX-Associated Phenotypes: An Overview in Search of Genotype-Phenotype Correlations

由 De Vilder, Eva Y. G., Debacker, Jens, Vanakker, Olivier M.
發表在 Int J Mol Sci (2017)

Histopathology of Pseudoxanthoma Elasticum and Related Disorders: Histological Hallmarks and Diagnostic Clues

由 Hosen, Mohammad J., Lamoen, Anouck, De Paepe, Anne, Vanakker, Olivier M.
出版 2012

The ABCC6 Transporter as a Paradigm for Networking from an Orphan Disease to Complex Disorders

由 De Vilder, Eva Y. G., Hosen, Mohammad Jakir, Vanakker, Olivier M.
發表在 Biomed Res Int (2015)

A likely pathogenic variant in the SLC20A2 gene presenting with progressive myoclonus

由 Lamquet, Simon, Ramos, Eliana M., Legati, Andrea, Coppola, Giovanni, Hemelsoet, Dimitri, Vanakker, Olivier M.
發表在 Ann Clin Transl Neurol (2019)

Zebrafish Models for Ectopic Mineralization Disorders: Practical Issues from Morpholino Design to Post-Injection Observations

由 Hosen, Mohammad Jakir, Vanakker, Olivier M., Willaert, Andy, Huysseune, Ann, Coucke, Paul, De Paepe, Anne
出版 2013

Perturbation of specific pro-mineralizing signalling pathways in human and murine pseudoxanthoma elasticum

由 Hosen, Mohammad J, Coucke, Paul J, Le Saux, Olivier, De Paepe, Anne, Vanakker, Olivier M
出版 2014

Molecular Docking Simulations Provide Insights in the Substrate Binding Sites and Possible Substrates of the ABCC6 Transporter

由 Hosen, Mohammad Jakir, Zubaer, Abdullah, Thapa, Simrika, Khadka, Bijendra, De Paepe, Anne, Vanakker, Olivier M.
出版 2014

Genetic counseling in the context of Bangladesh: current scenario, challenges, and a framework for genetic service implementation

由 Hosen, Mohammad Jakir, Anwar, Saeed, Taslem Mourosi, Jarin, Chakraborty, Sourav, Miah, Md. Faruque, Vanakker, Olivier M.
發表在 Orphanet J Rare Dis (2021)

Chikungunya outbreak in Bangladesh (2017): Clinical and hematological findings

由 Anwar, Saeed, Taslem Mourosi, Jarin, Khan, Md. Fahim, Ullah, Mohammad Ohid, Vanakker, Olivier M., Hosen, Mohammad Jakir
發表在 PLoS Negl Trop Dis (2020)

Rare Modifier Variants Alter the Severity of Cardiovascular Disease in Pseudoxanthoma Elasticum: Identification of Novel Candidate Modifier Genes and Disease Pathways Through Mixtu...

由 De Vilder, Eva Y. G., Martin, Ludovic, Lefthériotis, Georges, Coucke, Paul, Van Nieuwerburgh, Filip, Vanakker, Olivier M.
發表在 Front Cell Dev Biol (2021)

Cellular and Molecular Biomarkers Indicate Premature Aging in Pseudoxanthoma Elasticum Patients

由 Tiemann, Janina, Wagner, Thomas, Vanakker, Olivier M, van Gils, Matthias, Cabrera, José-Luis Bueno, Ibold, Bettina, Faust, Isabel, Knabbe, Cornelius, Hendig, Doris
發表在 Aging Dis (2019)

Efficiency of Exome Sequencing for the Molecular Diagnosis of Pseudoxanthoma Elasticum

由 Hosen, Mohammad J, Van Nieuwerburgh, Filip, Steyaert, Wouter, Deforce, Dieter, Martin, Ludovic, Leftheriotis, Georges, De Paepe, Anne, Coucke, Paul J, Vanakker, Olivier M
發表在 J Invest Dermatol (2015)

Pathogenic variants in the ABCC6 gene are associated with an increased risk for ischemic stroke

由 De Vilder, Eva Y.G., Cardoen, Stefanie, Hosen, Mohammad J., Le Saux, Olivier, De Zaeytijd, Julie, Leroy, Bart P., De Reuck, Jacques, Coucke, Paul J., De Paepe, Anne, Hemelsoet, Dimitri, Vanakker, Olivier M.
發表在 Brain Pathol (2018)

Internal Carotid Artery Hypoplasia: A New Clinical Feature in Pseudoxanthoma Elasticum

由 Omarjee, Loukman, Fortrat, Jacques-Olivier, Larralde, Antoine, Pabic, Estelle Le, Kauffenstein, Gilles, Laot, Maxence, Navasiolava, Nastassia, Mention, Pierre-Jean, Carrillo Linares, Juan Luis, Valdivielso, Pedro, Vanakker, Olivier M., Mahé, Guillaume, Martin, Ludovic, Lefthériotis, Georges
發表在 J Stroke (2019)

Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity

由 Hadj-Rabia, Smail, Callewaert, Bert L, Bourrat, Emmanuelle, Kempers, Marlies, Plomp, Astrid S, Layet, Valerie, Bartholdi, Deborah, Renard, Marjolijn, Backer, Julie De, Malfait, Fransiska, Vanakker, Olivier M, Coucke, Paul J, De Paepe, Anne M, Bodemer, Christine
出版 2013

Mutation detection in the ABCC6 gene and genotype–phenotype analysis in a large international case series affected by pseudoxanthoma elasticum

由 Pfendner, Ellen G, Vanakker, Olivier M, Terry, Sharon F, Vourthis, Sophia, McAndrew, Patricia E, McClain, Monica R, Fratta, Sarah, Marais, Anna‐Susan, Hariri, Susan, Coucke, Paul J, Ramsay, Michele, Viljoen, Denis, Terry, Patrick F, De Paepe, Anne, Uitto, Jouni, Bercovitch, Lionel G
出版 2007