Cite

Callewaert B, De Paepe A, Coucke P. Arterial Tortuosity Syndrome. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, et al., Eds. Gene Reviews® [Internet] University of Washington, Seattle, WA, USA; 1993–2018 (initial posting November 13 2014) (https://www.ncbi.nlm.nih.gov/books/NBK253404).CallewaertBDePaepe ACouckePArterial Tortuosity SyndromePagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, et al., EdsGene Reviews® [Internet] University of Washington, SeattleWA, USA1993–2018 (initial posting November 13 2014)(https://www.ncbi.nlm.nih.gov/books/NBK253404.)Search in Google Scholar

Coucke PJ, Willaert A, Wessels MW, Callewaert B, Zoppi N, De Backer J, et al. Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome. Nat Genet. 2006; 38(4): 452-457.CouckePJWillaertAWesselsMWCallewaertBZoppiNDeBacker JMutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndromeNat Genet200638445245710.1038/ng176416550171Search in Google Scholar

Ritelli M, Chiarelli N, Dordoni C, Reffo E, Venturini M, Quinzani S, et al. 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 BMC Med Genet 2014; 15: 122 (http://www.biomedcentral.com/1471-2350/15/122).RitelliMChiarelliNDordoniCReffoEVenturiniMQuinzaniSArterial tortuosity syndrome: Homozygosity for two novel and one recurrent SLC2A10 missense mutations in three families with severe cardiopulmonary complications in infancy and a literature reviewBMC Med Genet201415122(http://www.biomedcentral.com/1471-2350/15/122.)10.1186/s12881-014-0122-5441210025373504Search in Google Scholar

Németh CE, Marcolongo P, Gamberucci A, Fulceri R, Benedetti A, Zoppi N, et al. Glucose transporter type 10-lacking in arterial tortuosity syndrome-facilitates de-hydroascorbic acid transport. FEBS Lett. 2016; 590(11): 1630-1640.NémethCEMarcolongoPGamberucciAFulceriRBenedettiAZoppiNGlucose transporter type 10-lacking in arterial tortuosity syndrome-facilitates de-hydroascorbic acid transportFEBS Lett2016590111630164010.1002/1873-3468.1220427153185Search in Google Scholar

Zoppi N, Chiarelli N, Cinquina V, Ritelli M, Colombi M. GLUT10 deficiency leads to oxidative stress and non-canonical αvβ3 integrin-mediated TGFβ signalling associated with extracellular matrix disarray in arterial tortuosity syndrome skin fibroblasts. Hum Mol Genet. 2015; 24(23): 6769-6787.ZoppiNChiarelliNCinquinaVRitelliMColombiMGLUT10 deficiency leads to oxidative stress and non-canonical αvβ3 integrin-mediated TGFβ signalling associated with extracellular matrix disarray in arterial tortuosity syndrome skin fibroblastsHum Mol Genet201524236769678710.1093/hmg/ddv382463437926376865Search in Google Scholar

Callewaert BL, Willaert A, Kerstjens-Frederikse WS, De Backer J, Devriendt K, Albrecht B, et al. Arterial tortuosity syndrome: Clinical and molecular findings in 12 newly identified families. Hum Mutat. 2008; 29(1): 150-158.CallewaertBLWillaertAKerstjens-FrederikseWSDeBacker JDevriendtKAlbrechtBArterial tortuosity syndrome: Clinical and molecular findings in 12 newly identified familiesHum Mutat200829115015810.1002/humu.2062317935213Search in Google Scholar

Ritelli M, Drera B, Vicchio M, Puppini G, Biban P, Pilati M, et al. Arterial tortuosity syndrome in two Italian paediatric patients. Orphanet J Rare Dis. 2009; 4: 20.RitelliMDreraBVicchioMPuppiniGBibanPPilatiMArterial tortuosity syndrome in two Italian paediatric patientsOrphanet J Rare Dis200942010.1186/1750-1172-4-20275990419781076Search in Google Scholar

Albuisson J, Moceri P, Flori E, Belli E, Gronier C, Jeunemaitre X. Clinical utility gene card for: Arterial tor-tuosity syndrome. Eur J Hum Genet. 2015; 23(10). doi: 10.1038/ejhg.2014.294.AlbuissonJMoceriPFloriEBelliEGronierCJeunemaitreXClinical utility gene card for: Arterial tor-tuosity syndromeEur J Hum Genet20152310doi: 10.1038/ejhg.2014.29410.1038/ejhg.2014.294459208825604859Search in Google Scholar

Wessels MW, Catsman-Berrevoets CE, Mancini G, Breuning MH, Hoogeboom JJM, Stroink H, et al. Three new families with arterial tortuosity syndrome. Am J Med Genet. 2004; 131(2): 134-143.WesselsMWCatsman-BerrevoetsCEManciniGBreuningMHHoogeboomJJMStroinkHThree new families with arterial tortuosity syndromeAm J Med Genet2004131213414310.1002/ajmg.a.3027215529317Search in Google Scholar

Zaidi SHE, Meyer S, Peltekova I, Teebi AS, Faiyaz-Ul-Haque M. Congenital diaphragmatic abnormalities in arterial tortuosity syndrome patients who carry mutations in the SLC2A10 gene. Clin Genet. 2009; 75(6): 588-589.ZaidiSHEMeyerSPeltekovaITeebiASFaiyaz-Ul-HaqueMCongenital diaphragmatic abnormalities in arterial tortuosity syndrome patients who carry mutations in the SLC2A10 geneClin Genet200975658858910.1111/j.1399-0004.2009.01165.x19508422Search in Google Scholar

Law-Ye B, Fargeot G, Leclercq D. Arterial spin labeling hypoperfusion in migraine aura. Headache. 2017; 57(6): 935-936.Law-YeBFargeotGLeclercqDArterial spin labeling hypoperfusion in migraine auraHeadache201757693593610.1111/head.1307228369816Search in Google Scholar

Shayestagul NA, Christensen CE, Amin FM, Ashina S, Ashina M. Measurement of blood flow velocity in the middle cerebral artery during spontaneous migraine attacks: A systematic review. Headache. 2017; 57(6): 852-861.ShayestagulNAChristensenCEAminFMAshinaSAshinaMMeasurement of blood flow velocity in the middle cerebral artery during spontaneous migraine attacks: A systematic reviewHeadache201757685286110.1111/head.1310628470726Search in Google Scholar

Pelaez JM, Levine RL, Hafeez F, Dulli DA. Tortuosity of carotid and vertebral arteries: a magnetic resonance angiographic study. J Neuroimaging. 1998; 8(4): 235-239.PelaezJMLevineRLHafeezFDulliDATortuosity of carotid and vertebral arteries: a magnetic resonance angiographic studyJ Neuroimaging19988423523910.1111/jon1998842359780856Search in Google Scholar

Wei F, Diedrich KT, Fullerton HJ, DeVeber G, Wintermark M, Hodge J, et al. Arterial tortuosity: An imaging biomarker of childhood stroke pathogenesis? Stroke. 2016; 47(5):1265-1270.WeiFDiedrichKTFullertonHJDeVeberGWintermarkMHodgeJArterial tortuosity: An imaging biomarker of childhood stroke pathogenesis?Stroke20164751265127010.1161/STROKEAHA.115.011331484654427006453Search in Google Scholar

Cartwright MS, Hickling WH, Roach ES. Ischemic stroke in an adolescent with arterial tortuosity syndrome. Neurology. 2006; 67(2):360-361.CartwrightMSHicklingWHRoachESIschemic stroke in an adolescent with arterial tortuosity syndromeNeurology200667236036110.1212/01.wnl.0000225056.66762.f916864843Search in Google Scholar

eISSN:
1311-0160
Idioma:
Inglés
Calendario de la edición:
2 veces al año
Temas de la revista:
Medicine, Basic Medical Science, other