CLINICAL VARIABILITY IN TWO MACEDONIAN FAMILIES WITH ARTERIAL TORTUOSITY SYNDROME
Kocova M, Kacarska R, Kuzevska-Maneva K, Prijic S, Lazareska M, Dordoni C, Ritelli M, Colombi M
*Corresponding Author: Professor Dr. Mirjana Kocova, University Pediatric Clinic, Str Majka Tereza 17, 1000 Skopje, Republic of Macedonia. Tel: +389-70-242-694. Fax: +389-2-311-1713. E-mail: mirjanakocova@ yahoo.com
page: 47

REFERENCES

1. 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.) 2. 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. 3. 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.bio medcentral.com/1471-2350/15/122.) 4. 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. 5. 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. 6. 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. 7. 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. 8. 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. 9. 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. 10. 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. 11. Law-Ye B, Fargeot G, Leclercq D. Arterial spin labeling hypoperfusion in migraine aura. Headache. 2017; 57(6): 935-936. 12. 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. 13. 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. 14. 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. 15. Cartwright MS, Hickling WH, Roach ES. Ischemic stroke in an adolescent with arterial tortuosity syndrome. Neurology. 2006; 67(2):360-361.



Number 26
Number 26 VOL. 26(2), 2023 All in one
Number 26
VOL. 26(2), 2023
Number 26
VOL. 26, 2023 Supplement
Number 26
VOL. 26(1), 2023
Number 25
VOL. 25(2), 2022
Number 25
VOL. 25 (1), 2022
Number 24
VOL. 24(2), 2021
Number 24
VOL. 24(1), 2021
Number 23
VOL. 23(2), 2020
Number 22
VOL. 22(2), 2019
Number 22
VOL. 22(1), 2019
Number 22
VOL. 22, 2019 Supplement
Number 21
VOL. 21(2), 2018
Number 21
VOL. 21 (1), 2018
Number 21
VOL. 21, 2018 Supplement
Number 20
VOL. 20 (2), 2017
Number 20
VOL. 20 (1), 2017
Number 19
VOL. 19 (2), 2016
Number 19
VOL. 19 (1), 2016
Number 18
VOL. 18 (2), 2015
Number 18
VOL. 18 (1), 2015
Number 17
VOL. 17 (2), 2014
Number 17
VOL. 17 (1), 2014
Number 16
VOL. 16 (2), 2013
Number 16
VOL. 16 (1), 2013
Number 15
VOL. 15 (2), 2012
Number 15
VOL. 15, 2012 Supplement
Number 15
Vol. 15 (1), 2012
Number 14
14 - Vol. 14 (2), 2011
Number 14
The 9th Balkan Congress of Medical Genetics
Number 14
14 - Vol. 14 (1), 2011
Number 13
Vol. 13 (2), 2010
Number 13
Vol.13 (1), 2010
Number 12
Vol.12 (2), 2009
Number 12
Vol.12 (1), 2009
Number 11
Vol.11 (2),2008
Number 11
Vol.11 (1),2008
Number 10
Vol.10 (2), 2007
Number 10
10 (1),2007
Number 9
1&2, 2006
Number 9
3&4, 2006
Number 8
1&2, 2005
Number 8
3&4, 2004
Number 7
1&2, 2004
Number 6
3&4, 2003
Number 6
1&2, 2003
Number 5
3&4, 2002
Number 5
1&2, 2002
Number 4
Vol.3 (4), 2000
Number 4
Vol.2 (4), 1999
Number 4
Vol.1 (4), 1998
Number 4
3&4, 2001
Number 4
1&2, 2001
Number 3
Vol.3 (3), 2000
Number 3
Vol.2 (3), 1999
Number 3
Vol.1 (3), 1998
Number 2
Vol.3(2), 2000
Number 2
Vol.1 (2), 1998
Number 2
Vol.2 (2), 1999
Number 1
Vol.3 (1), 2000
Number 1
Vol.2 (1), 1999
Number 1
Vol.1 (1), 1998

 

 


 About the journal ::: Editorial ::: Subscription ::: Information for authors ::: Contact
 Copyright © Balkan Journal of Medical Genetics 2006