Zobrazeno 1 - 10
of 344
pro vyhledávání: '"arterial tortuosity syndrome"'
Autor:
Fahad M. Alshair, Amal S. Alsulami, Mohammad S. Shihata, Osman O. Alradi, Ragab S. Debis, Abdullah H. Baghaffar, Mazin A. Fatani
Publikováno v:
Journal of Cardiothoracic Surgery, Vol 19, Iss 1, Pp 1-9 (2024)
Abstract Background Arterial tortuosity syndrome is a rare Autosomal recessive disease that leads to a loss of function of the connective tissues of the body, this happens due to a mutation in the solute carrier family 2 member 10 (SLC2A10) gene. ATS
Externí odkaz:
https://doaj.org/article/8f1e39a419dc4a8c87a8a7aa400768f6
Autor:
Maria Cristina Inserra, Alessia Di Mari, Giulia Passaniti, Maria Teresa Cannizzaro, Giuliana La Rosa, Daniela Poli, Placido Gitto, Laura Patanè, Placido Romeo
Publikováno v:
Global Medical Genetics, Vol 10, Iss 04, Pp 271-277 (2023)
Arterial tortuosity syndrome (ATS) is a very rare autosomal recessive disorder that affects the connective tissue. The incidence of ATS is not well known and to date only 106 patients have been described in the literature. ATS affects medium and larg
Externí odkaz:
https://doaj.org/article/a1513c5fdf634f75a93cddc0f1660cc1
Publikováno v:
Radiology Case Reports, Vol 18, Iss 9, Pp 3252-3255 (2023)
Arterial tortuosity syndrome is a rare genetic disorder characterized by dilation, elongation, and significant tortuosity of major arteries. Approximately 100 cases of this disorder have been reported worldwide, including 3 reports in Iran. We descri
Externí odkaz:
https://doaj.org/article/4a633e4902b44f07ae94cec54fa00b05
Autor:
Daniel Palanca Arias, Ariadna Ayerza Casas, Marcos Clavero Adell, Cristina Gutiérrez Alonso, Marta López Ramón, Lorenzo Jiménez Montañés, Victoria Estaben Boldova, Silvia Izquierdo-Álvarez
Publikováno v:
Bulletin of the National Research Centre, Vol 46, Iss 1, Pp 1-6 (2022)
Abstract Background Arterial tortuosity syndrome (ATS) (OMIM #208050) is a very rare autosomal recessive connective tissue disease characterized by elongation, tortuosity, and predisposition of aneurysms formation in medium and large-caliber arteries
Externí odkaz:
https://doaj.org/article/0417157957944c07beb441a7d4a7bc29
Autor:
Mohamed Elsayed Elnaggar, MBBCH, MSc, EDiR, Mahmoud Mohamed Aly, MBBCH, MSC, MD, FRCR, Hiba Abduljawad, MBBCH, BAO, NUI, Maryam Bubshait, MD, Wael Hamed Ebrahim, MD, PhD
Publikováno v:
Radiology Case Reports, Vol 17, Iss 8, Pp 2594-2597 (2022)
Arterial tortuosity syndrome (ATS) is rare autosomal recessive connective tissue disorder. It affects large and medium-sized arteries inducing tortuosity and elongation. Typical skeletal manifestations are dysmorphic features, hyperextensible skin, h
Externí odkaz:
https://doaj.org/article/11de34d03d0e49f79239e4e53b907f4c
Autor:
Stefano Cotti Piccinelli, Enrico Premi, Sonia Bonacina, Nicola Gilberti, Veronica Vergani, Massimo Gamba, Raffaella Spezi, Ilenia Delrio, Michaël Bernier, Angelo Costa, Marco Ravanelli, Marina Colombi, Roberto Gasparotti, Alessandro Padovani, Mauro Magoni
Publikováno v:
BMC Neurology, Vol 21, Iss 1, Pp 1-5 (2021)
Abstract Background Arterial Tortuosity Syndrome (ATS) is a rare autosomal recessive disorder characterized by elongated and tortuous arteries. Although ATS showed a significant clinical and pathophysiological overlap with other syndromes involving c
Externí odkaz:
https://doaj.org/article/eca13067a4fc474fba4f41b3d809505b
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Publikováno v:
BMC Pregnancy and Childbirth, Vol 21, Iss 1, Pp 1-8 (2021)
Abstract Background Arterial tortuosity syndrome (ATS) is a rare autosomal recessive connective tissue disorder chiefly characterized by elongated and tortuosity of the large and medium sized arteries and anomalies of the vascular elastic fibers. Her
Externí odkaz:
https://doaj.org/article/89c9f185749845799273a1b0898fb057
Autor:
Sandhya Vikas Yatagiri, Ashwini Balasaheb Nuchhi, Veena Srinivas Harwalkar, Ravi Siddanagouda Bulagouda
Publikováno v:
Journal of Clinical and Diagnostic Research, Vol 16, Iss 7, Pp AD01-AD02 (2022)
The thoracic aorta extends from lower border of fourth thoracic vertebra upto the aortic hiatus of thoraco-abdominal diaphragm at the lower border of 12th thoracic vertebra. Then it continues as abdominal aorta upto lower border of fourth lumbar vert
Externí odkaz:
https://doaj.org/article/d29cb951365744189c1241c4f5dd8208
Publikováno v:
American Journal of Ophthalmology Case Reports, Vol 25, Iss , Pp 101264- (2022)
Purpose: We report two cases of refractile, peripheral, corneal stromal deposition in two patients with arterial tortuosity syndrome (ATS) and Ehlers-Danlos syndrome (EDS), two closely related connective tissue diseases (CTDs). Observations: Patient
Externí odkaz:
https://doaj.org/article/335823ce14d744eda4c8203fbca12cdb