Associated Papers
A giant hiatal hernia with a congenital diaphragmatic hernia in a pediatric patient with arterial tortuosity syndrome: a case report.
Almabyouq FJ et al.
Frontiers in Pediatrics, 2026
Arterial Tortuosity Syndrome: A Longitudinal Assessment of Cardiovascular Features and Interventions From the Collaborative for Longitudinal Aortic Research in the Young (CLARITY).
Salamat B et al.
American Journal of Medical Genetics. Part A, 2025
Surgical Repair of the Aorta in a Neonate With Arterial Tortuosity Syndrome.
Kulyabin YY et al.
World Journal for Pediatric & Congenital Heart Surgery, 2025
Arab founder variants: Contributions to clinical genomics and precision medicine.
AlAbdi L et al.
Med (new York, N.y.), 2025
Understanding the Spectrum of Mild Clinical Outcomes and Novel Findings in Arterial Tortuosity Syndrome Among Qatari Patients: Implications of SLC2A10 Mutation.
Rahmath MRK et al.
Biomedicines, 2025
Congenital cervical lung herniation in an infant with arterial tortuosity syndrome.
Al-Naimi A et al.
Respiratory Medicine Case Reports, 2025
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
Profiling genetic variants in cardiovascular disease genes among a Heterogeneous cohort of Mendelian conditions patients and electronic health records.
Akawi N et al.
Frontiers in Molecular Biosciences, 2024
Arterial Tortuosity Syndrome in a Newborn: A Case Report With Literature Review.
Al-Blushi S et al.
Cureus, 2022
Impact of variation in practice in the prenatal reporting of variants of uncertain significance by commercial laboratories: Need for greater adherence to published guidelines.
Cornthwaite M et al.
Prenatal Diagnosis, 2022
Investigation of Genetic Causes in Patients with Congenital Heart Disease in Qatar: Findings from the Sidra Cardiac Registry.
Okashah S et al.
Genes, 2022
Ultrastructure abnormalities of collagen and elastin in Arab patients with arterial tortuosity syndrome.
Faiyaz-Ul-Haque M et al.
Journal of Cutaneous Pathology, 2022
Two fetuses in one family of arterial tortuosity syndrome: prenatal ultrasound diagnosis.
Liang M et al.
Bmc Pregnancy and Childbirth, 2021
First antenatally confirmed case of arterial tortuosity syndrome.
Saravu Vijayashankar S et al.
Cardiology in the Young, 2020
What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations.
Alfares A et al.
Bmc Medical Genomics, 2020
Insights into Substrate and Inhibitor Selectivity among Human GLUT Transporters through Comparative Modeling and Molecular Docking.
Ferreira RS et al.
Acs Omega, 2019
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
Clinical genetics and genomic medicine in Qatar.
Al-Dewik N et al.
Molecular Genetics & Genomic Medicine, 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
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
Monies D et al.
Human Genetics, 2017
Clinical utility gene card for: Arterial tortuosity syndrome.
Albuisson J et al.
European Journal of Human Genetics : Ejhg, 2015
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
Exome sequencing identifies potential risk variants for Mendelian disorders at high prevalence in Qatar.
Rodriguez-Flores JL et al.
Human Mutation, 2014
Arab gene geography: From population diversities to personalized medical genomics.
Tadmouri GO et al.
Global Cardiology Science & Practice, 2014
Arterial tortuosity syndrome in two Italian paediatric patients.
Ritelli M et al.
Orphanet Journal of Rare Diseases, 2009
A novel missense and a recurrent mutation in SLC2A10 gene of patients affected with arterial tortuosity syndrome.
Faiyaz-Ul-Haque M et al.
Atherosclerosis, 2009
Identification of a p.Ser81Arg encoding mutation in SLC2A10 gene of arterial tortuosity syndrome patients from 10 Qatari families.
Faiyaz-Ul-Haque M et al.
Clinical Genetics, 2008
Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families.
Callewaert BL et al.
Human Mutation, 2008
Two novel SLC2A10/GLUT10 mutations in a patient with arterial tortuosity syndrome.
Drera B et al.
American Journal of Medical Genetics. Part A, 2007
Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome.
Coucke PJ et al.
Nature Genetics, 2006