Coordinated orphan disease research: yes, we can!

Por Vanakker, Olivier M.
Publicado em 2013

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

Por De Vilder, Eva YG, Vanakker, Olivier M
Publicado no World J Clin Cases (2015)

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

Por Vanakker, Olivier M., Hemelsoet, Dimitri, De Paepe, Anne
Publicado em 2011

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

Por Vanakker, Olivier M., Hosen, Mohammad J., Paepe, Anne De
Publicado em 2013

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

Por De Vilder, Eva Y. G., Debacker, Jens, Vanakker, Olivier M.
Publicado no Int J Mol Sci (2017)

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

Por Hosen, Mohammad J., Lamoen, Anouck, De Paepe, Anne, Vanakker, Olivier M.
Publicado em 2012

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

Por De Vilder, Eva Y. G., Hosen, Mohammad Jakir, Vanakker, Olivier M.
Publicado no Biomed Res Int (2015)

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

Por Hosen, Mohammad Jakir, Vanakker, Olivier M., Willaert, Andy, Huysseune, Ann, Coucke, Paul, De Paepe, Anne
Publicado em 2013

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

Por Hosen, Mohammad J, Coucke, Paul J, Le Saux, Olivier, De Paepe, Anne, Vanakker, Olivier M
Publicado em 2014

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

Por Hosen, Mohammad Jakir, Zubaer, Abdullah, Thapa, Simrika, Khadka, Bijendra, De Paepe, Anne, Vanakker, Olivier M.
Publicado em 2014

Efficiency of Exome Sequencing for the Molecular Diagnosis of Pseudoxanthoma Elasticum

Por Hosen, Mohammad J, Van Nieuwerburgh, Filip, Steyaert, Wouter, Deforce, Dieter, Martin, Ludovic, Leftheriotis, Georges, De Paepe, Anne, Coucke, Paul J, Vanakker, Olivier M
Publicado no J Invest Dermatol (2015)

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

Por 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
Publicado em 2013

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

Por 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
Publicado em 2007