Associated Papers
Arterial Tortuosity Syndrome in a Newborn: A Case Report With Literature Review.
Al-Blushi S et al.
Cureus, 2022
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
34503567 (PubMed )
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Unraveling the Genetics of Congenital Diaphragmatic Hernia: An Ongoing Challenge.
Brosens E et al.
Frontiers in Pediatrics, 2021
Insights into Substrate and Inhibitor Selectivity among Human GLUT Transporters through Comparative Modeling and Molecular Docking.
Ferreira RS et al.
Acs Omega, 2019
Results of next-generation sequencing gene panel diagnostics including copy-number variation analysis in 810 patients suspected of heritable thoracic aortic disorders.
Overwater E et al.
Human Mutation, 2018
Assessing Human Genetic Variations in Glucose Transporter SLC2A10 and Their Role in Altering Structural and Functional Properties.
Zimmermann MT et al.
Frontiers in Genetics, 2018
Arterial Tortuosity Syndrome: homozygosity for two novel and one recurrent SLC2A10 missense mutations in three families with severe cardiopulmonary complications in infancy and a literature review.
Ritelli M et al.
Bmc Medical Genetics, 2014
Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families.
Callewaert BL et al.
Human Mutation, 2008
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