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Items: 1 to 20 of 82

1.

Identification of a p.Ser81Arg encoding mutation in SLC2A10 gene of arterial tortuosity syndrome patients from 10 Qatari families.

Faiyaz-Ul-Haque M, Zaidi SH, Wahab AA, Eltohami A, Al-Mureikhi MS, Al-Thani G, Peltekova VD, Tsui LC, Teebi AS.

Clin Genet. 2008 Aug;74(2):189-93. doi: 10.1111/j.1399-0004.2008.01049.x. No abstract available.

PMID:
18565096
2.

A novel missense and a recurrent mutation in SLC2A10 gene of patients affected with arterial tortuosity syndrome.

Faiyaz-Ul-Haque M, Zaidi SH, Al-Sanna N, Alswaid A, Momenah T, Kaya N, Al-Dayel F, Bouhoaigah I, Saliem M, Tsui LC, Teebi AS.

Atherosclerosis. 2009 Apr;203(2):466-71. doi: 10.1016/j.atherosclerosis.2008.07.026.

PMID:
18774132
3.

Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families.

Callewaert BL, Willaert A, Kerstjens-Frederikse WS, De Backer J, Devriendt K, Albrecht B, Ramos-Arroyo MA, Doco-Fenzy M, Hennekam RC, Pyeritz RE, Krogmann ON, Gillessen-kaesbach G, Wakeling EL, Nik-zainal S, Francannet C, Mauran P, Booth C, Barrow M, Dekens R, Loeys BL, Coucke PJ, De Paepe AM.

Hum Mutat. 2008 Jan;29(1):150-8.

PMID:
17935213
4.

A novel non-sense mutation in the SLC2A10 gene of an arterial tortuosity syndrome patient of Kurdish origin.

Zaidi SH, Meyer S, Peltekova VD, Lindinger A, Teebi AS, Faiyaz-Ul-Haque M.

Eur J Pediatr. 2009 Jul;168(7):867-70. doi: 10.1007/s00431-008-0839-2.

PMID:
18818946
5.

Congenital diaphragmatic abnormalities in arterial tortuosity syndrome patients who carry mutations in the SLC2A10 gene.

Zaidi SH, Meyer S, Peltekova I, Teebi AS, Faiyaz-Ul-Haque M.

Clin Genet. 2009 Jun;75(6):588-9. doi: 10.1111/j.1399-0004.2009.01165.x. No abstract available.

PMID:
19508422
6.

Adult presentation of arterial tortuosity syndrome in a 51-year-old woman with a novel homozygous c.1411+1G>A mutation in the SLC2A10 gene.

Castori M, Ritelli M, Zoppi N, Molisso L, Chiarelli N, Zaccagna F, Grammatico P, Colombi M.

Am J Med Genet A. 2012 May;158A(5):1164-9. doi: 10.1002/ajmg.a.35266.

PMID:
22488877
7.

Absence of arterial phenotype in mice with homozygous slc2A10 missense substitutions.

Callewaert BL, Loeys BL, Casteleyn C, Willaert A, Dewint P, De Backer J, Sedlmeier R, Simoens P, De Paepe AM, Coucke PJ.

Genesis. 2008 Aug;46(8):385-9. doi: 10.1002/dvg.20409.

PMID:
18693279
8.

Successful outcome in pregnancy with arterial tortuosity syndrome.

Allen VM, Horne SG, Penney LS, Rapchuk IL, Brock JA, Thompson DL, Stinson DA.

Obstet Gynecol. 2009 Aug;114(2 Pt 2):494-8. doi: 10.1097/AOG.0b013e3181a99e52.

PMID:
19622975
9.

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, Chiarelli N, Dordoni C, Reffo E, Venturini M, Quinzani S, Monica MD, Scarano G, Santoro G, Russo MG, Calzavara-Pinton P, Milanesi O, Colombi M.

BMC Med Genet. 2014 Nov 6;15:122. doi: 10.1186/s12881-014-0122-5. Review.

10.

Ischemic stroke in an adolescent with arterial tortuosity syndrome.

Drera B, Barlati S, Colombi M.

Neurology. 2007 May 8;68(19):1637; author reply 1637. No abstract available.

PMID:
17485657
11.

Mutations in the SLC2A10 gene cause arterial abnormalities in mice.

Cheng CH, Kikuchi T, Chen YH, Sabbagha NG, Lee YC, Pan HJ, Chang C, Chen YT.

Cardiovasc Res. 2009 Feb 1;81(2):381-8. doi: 10.1093/cvr/cvn319.

12.

Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome.

Coucke PJ, Willaert A, Wessels MW, Callewaert B, Zoppi N, De Backer J, Fox JE, Mancini GM, Kambouris M, Gardella R, Facchetti F, Willems PJ, Forsyth R, Dietz HC, Barlati S, Colombi M, Loeys B, De Paepe A.

Nat Genet. 2006 Apr;38(4):452-7.

PMID:
16550171
13.

Valve-sparing aortic root replacement in a patient with a rare connective tissue disorder: arterial tortuosity syndrome.

Bottio T, Bisleri G, Piccoli P, Muneretto C.

J Thorac Cardiovasc Surg. 2007 Jan;133(1):252-3. No abstract available.

14.

Two novel SLC2A10/GLUT10 mutations in a patient with arterial tortuosity syndrome.

Drera B, Guala A, Zoppi N, Gardella R, Franceschini P, Barlati S, Colombi M.

Am J Med Genet A. 2007 Jan 15;143A(2):216-8. No abstract available.

PMID:
17163528
15.

Homozygosity mapping of a gene for arterial tortuosity syndrome to chromosome 20q13.

Coucke PJ, Wessels MW, Van Acker P, Gardella R, Barlati S, Willems PJ, Colombi M, De Paepe A.

J Med Genet. 2003 Oct;40(10):747-51.

16.

Glucose transporter 10 and arterial tortuosity syndrome: the vitamin C connection.

Segade F.

FEBS Lett. 2010 Jul 16;584(14):2990-4. doi: 10.1016/j.febslet.2010.06.011. Review.

17.

Exclusion of candidate genes in a family with arterial tortuosity syndrome.

Gardella R, Zoppi N, Assanelli D, Muiesan ML, Barlati S, Colombi M.

Am J Med Genet A. 2004 Apr 30;126A(3):221-8.

PMID:
15054833
18.

A neonate with cyanosis and tortuous great arteries.

Pilati M, Luciani GB, Prioli MA, Puppini G.

Pediatr Cardiol. 2009 Nov;30(8):1146-9. doi: 10.1007/s00246-009-9486-2.

PMID:
19597860
19.

The wrinkly skin syndrome: a report of two siblings from Saudi Arabia.

Karrar ZA, Elidrissy AT, Al Arabi K, Adam KA.

Clin Genet. 1983 Apr;23(4):308-10.

PMID:
6851222
20.

Arterial tortuosity syndrome in two Italian paediatric patients.

Ritelli M, Drera B, Vicchio M, Puppini G, Biban P, Pilati M, Prioli MA, Barlati S, Colombi M.

Orphanet J Rare Dis. 2009 Sep 25;4:20. doi: 10.1186/1750-1172-4-20.

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