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Items: 1 to 20 of 153

1.

Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations.

Revencu N, Boon LM, Mulliken JB, Enjolras O, Cordisco MR, Burrows PE, Clapuyt P, Hammer F, Dubois J, Baselga E, Brancati F, Carder R, Quintal JM, Dallapiccola B, Fischer G, Frieden IJ, Garzon M, Harper J, Johnson-Patel J, Labrèze C, Martorell L, Paltiel HJ, Pohl A, Prendiville J, Quere I, Siegel DH, Valente EM, Van Hagen A, Van Hest L, Vaux KK, Vicente A, Weibel L, Chitayat D, Vikkula M.

Hum Mutat. 2008 Jul;29(7):959-65. doi: 10.1002/humu.20746.

PMID:
18446851
2.

RASA1: variable phenotype with capillary and arteriovenous malformations.

Boon LM, Mulliken JB, Vikkula M.

Curr Opin Genet Dev. 2005 Jun;15(3):265-9. Review.

PMID:
15917201
3.

A novel mutation in RASA1 causes capillary malformation and limb enlargement.

Hershkovitz D, Bergman R, Sprecher E.

Arch Dermatol Res. 2008 Aug;300(7):385-8. doi: 10.1007/s00403-008-0842-5. Epub 2008 Mar 8.

PMID:
18327598
4.

Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations.

Eerola I, Boon LM, Mulliken JB, Burrows PE, Dompmartin A, Watanabe S, Vanwijck R, Vikkula M.

Am J Hum Genet. 2003 Dec;73(6):1240-9. Epub 2003 Nov 24.

5.

RASA1 mutations may cause hereditary capillary malformations without arteriovenous malformations.

Hershkovitz D, Bercovich D, Sprecher E, Lapidot M.

Br J Dermatol. 2008 May;158(5):1035-40. doi: 10.1111/j.1365-2133.2008.08493.x. Epub 2008 Mar 20.

PMID:
18363760
6.

A novel association between RASA1 mutations and spinal arteriovenous anomalies.

Thiex R, Mulliken JB, Revencu N, Boon LM, Burrows PE, Cordisco M, Dwight Y, Smith ER, Vikkula M, Orbach DB.

AJNR Am J Neuroradiol. 2010 Apr;31(4):775-9. doi: 10.3174/ajnr.A1907. Epub 2009 Dec 10.

7.

RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation.

Revencu N, Boon LM, Mendola A, Cordisco MR, Dubois J, Clapuyt P, Hammer F, Amor DJ, Irvine AD, Baselga E, Dompmartin A, Syed S, Martin-Santiago A, Ades L, Collins F, Smith J, Sandaradura S, Barrio VR, Burrows PE, Blei F, Cozzolino M, Brunetti-Pierri N, Vicente A, Abramowicz M, Désir J, Vilain C, Chung WK, Wilson A, Gardiner CA, Dwight Y, Lord DJ, Fishman L, Cytrynbaum C, Chamlin S, Ghali F, Gilaberte Y, Joss S, Boente Mdel C, Léauté-Labrèze C, Delrue MA, Bayliss S, Martorell L, González-Enseñat MA, Mazereeuw-Hautier J, O'Donnell B, Bessis D, Pyeritz RE, Salhi A, Tan OT, Wargon O, Mulliken JB, Vikkula M.

Hum Mutat. 2013 Dec;34(12):1632-41. doi: 10.1002/humu.22431. Epub 2013 Oct 10.

PMID:
24038909
8.

RASA1 analysis: clinical and molecular findings in a series of consecutive cases.

Wooderchak-Donahue W, Stevenson DA, McDonald J, Grimmer JF, Gedge F, Bayrak-Toydemir P.

Eur J Med Genet. 2012 Feb;55(2):91-5. doi: 10.1016/j.ejmg.2011.11.008. Epub 2011 Dec 8.

PMID:
22200646
9.

Histopathologic and ultrasound characteristics of cutaneous capillary malformations in a patient with capillary malformation-arteriovenous malformation syndrome.

Kim C, Ko CJ, Baker KE, Antaya RJ.

Pediatr Dermatol. 2015 Jan-Feb;32(1):128-31. doi: 10.1111/pde.12188. Epub 2013 Jul 7.

PMID:
23829194
10.

[Familial case of Parkes Weber syndrome].

Courivaud D, Delerue A, Delerue C, Boon L, Piette F, Modiano P.

Ann Dermatol Venereol. 2006 May;133(5 Pt 1):445-7. French.

PMID:
16760831
11.

A spectrum of intracranial vascular high-flow arteriovenous shunts in RASA1 mutations.

Grillner P, Söderman M, Holmin S, Rodesch G.

Childs Nerv Syst. 2016 Apr;32(4):709-15. doi: 10.1007/s00381-015-2940-y. Epub 2015 Oct 24. Erratum in: Childs Nerv Syst. 2016 Jan;32(1):213.

PMID:
26499346
12.

Clinical spectrum of capillary malformation-arteriovenous malformation syndrome presenting to a pediatric dermatology practice: a retrospective study.

Weitz NA, Lauren CT, Behr GG, Wu JK, Kandel JJ, Meyers PM, Sultan S, Anyane-Yeboa K, Morel KD, Garzon MC.

Pediatr Dermatol. 2015 Jan-Feb;32(1):76-84. doi: 10.1111/pde.12384. Epub 2014 Jul 21.

PMID:
25040287
13.

RASA1 somatic mutation and variable expressivity in capillary malformation/arteriovenous malformation (CM/AVM) syndrome.

Macmurdo CF, Wooderchak-Donahue W, Bayrak-Toydemir P, Le J, Wallenstein MB, Milla C, Teng JM, Bernstein JA, Stevenson DA.

Am J Med Genet A. 2016 Jun;170(6):1450-4. doi: 10.1002/ajmg.a.37613. Epub 2016 Mar 11.

PMID:
26969842
14.

RASA1 analysis guides management in a family with capillary malformation-arteriovenous malformation.

Flore LA, Leon E, Maher TA, Milunsky JM.

J Pediatr Genet. 2012 Jun;1(2):125-9. doi: 10.3233/PGE-2012-020.

15.

Capillary malformation-arteriovenous malformation: a clinical review of 45 patients.

Larralde M, Abad ME, Luna PC, Hoffner MV.

Int J Dermatol. 2014 Apr;53(4):458-61. doi: 10.1111/ijd.12040. Epub 2013 Oct 29.

PMID:
24168113
16.

Genetic causes of vascular malformations.

Brouillard P, Vikkula M.

Hum Mol Genet. 2007 Oct 15;16 Spec No. 2:R140-9. Epub 2007 Jul 31. Review.

PMID:
17670762
17.

[Pathogenesis and genetics of vascular anomalies].

Vikkula M.

Ann Chir Plast Esthet. 2006 Aug-Oct;51(4-5):282-6. Epub 2006 Sep 25. French.

PMID:
16997448
18.

Germline Mutations in RASA1 Are Not Found in Patients with Klippel-Trenaunay Syndrome or Capillary Malformation with Limb Overgrowth.

Revencu N, Boon LM, Dompmartin A, Rieu P, Busch WL, Dubois J, Forzano F, van Hagen JM, Halbach S, Kuechler A, Lachmeijer AM, Lähde J, Russell L, Simola KO, Mulliken JB, Vikkula M.

Mol Syndromol. 2013 Apr;4(4):173-8. doi: 10.1159/000349919. Epub 2013 Apr 11.

19.

Symptomatic children with hereditary hemorrhagic telangiectasia: a pediatric center experience.

Mei-Zahav M, Letarte M, Faughnan ME, Abdalla SA, Cymerman U, MacLusky IB.

Arch Pediatr Adolesc Med. 2006 Jun;160(6):596-601.

PMID:
16754821
20.

The potential of capillary birthmarks as a significant marker for capillary malformation-arteriovenous malformation syndrome in children who had nontraumatic cerebral hemorrhage.

Chee D, Phillips R, Maixner W, Southwell BR, Hutson JM.

J Pediatr Surg. 2010 Dec;45(12):2419-22. doi: 10.1016/j.jpedsurg.2010.08.043.

PMID:
21129558

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