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Items: 1 to 20 of 212

1.

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
2.

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
3.

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
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: 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
6.

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.

7.

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
8.

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
9.

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
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 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.

12.

Klippel-Trenaunay syndrome: a case study.

Meier S.

Adv Neonatal Care. 2009 Jun;9(3):120-4. doi: 10.1097/ANC.0b013e3181a68b15. Review.

PMID:
19542774
13.

Diagnosis and management of extensive vascular malformations of the lower limb: part I. Clinical diagnosis.

Redondo P, Aguado L, Martínez-Cuesta A.

J Am Acad Dermatol. 2011 Nov;65(5):893-906; quiz 907-8. doi: 10.1016/j.jaad.2010.12.047. Review.

PMID:
22000870
14.

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
15.

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
16.

Monozygotic twins discordant for vascular malformations and dysregulated growth.

Oduber CE, Bliek J, van der Horst CM, van Steensel MA, Hennekam RC.

Eur J Med Genet. 2010 Jan-Feb;53(1):14-8. doi: 10.1016/j.ejmg.2009.08.004. Epub 2009 Aug 28.

PMID:
19716450
17.

Genetic aspects of the Klippel-Trenaunay syndrome.

Aelvoet GE, Jorens PG, Roelen LM.

Br J Dermatol. 1992 Jun;126(6):603-7.

PMID:
1319193
18.

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
19.

Phenotypic variability in a family with capillary malformations caused by a mutation in the RASA1 gene.

de Wijn RS, Oduber CE, Breugem CC, Alders M, Hennekam RC, van der Horst CM.

Eur J Med Genet. 2012 Mar;55(3):191-5. doi: 10.1016/j.ejmg.2012.01.009. Epub 2012 Jan 28.

PMID:
22342634
20.

[Sturge--Weber-Klippel--Trenaunay syndrome (case report)].

Rafai MA, Otmani HE, Boulaajaj FZ, Sibai M, Moutaouakkil F, Chlihi A, Slassi I.

J Mal Vasc. 2008 Feb;33(1):35-8. doi: 10.1016/j.jmv.2008.01.104. Epub 2008 Mar 14. French.

PMID:
18343067

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