Associated Papers
Identification of Genetic Variants Associated with Hereditary Thoracic Aortic Diseases (HTADs) Using Next Generation Sequencing (NGS) Technology and Genotype-Phenotype Correlations.
Butnariu LI et al.
International Journal of Molecular Sciences, 2024
Arterial tortuosity syndrome: Phenotypic features and cardiovascular manifestations in 4 newly identified patients.
Esmel-Vilomara R et al.
European Journal of Medical Genetics, 2023
Arterial Tortuosity Syndrome in a Newborn: A Case Report With Literature Review.
Al-Blushi S et al.
Cureus, 2022
Arterial tortuosity syndrome: 40 new families and literature review.
Beyens A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
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
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
Arab gene geography: From population diversities to personalized medical genomics.
Tadmouri GO et al.
Global Cardiology Science & Practice, 2014
A novel non-sense mutation in the SLC2A10 gene of an arterial tortuosity syndrome patient of Kurdish origin.
Zaidi SH et al.
European Journal of Pediatrics, 2009
Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy.
Verkerk AJ et al.
American Journal of Human Genetics, 2009
Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families.
Callewaert BL et al.
Human Mutation, 2008
Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome.
Coucke PJ et al.
Nature Genetics, 2006
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