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Items: 1 to 20 of 163

1.

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
2.

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.

3.

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
4.

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
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.

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
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.

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
9.

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
10.

Maternal and fetal capillary malformation-arteriovenous malformation (CM-AVM) due to a novel RASA1 mutation presenting with prenatal non-immune hydrops fetalis.

Overcash RT, Gibu CK, Jones MC, Ramos GA, Andreasen TS.

Am J Med Genet A. 2015 Oct;167A(10):2440-3. doi: 10.1002/ajmg.a.37203. Epub 2015 Jun 11.

PMID:
26096958
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.

[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
13.

A novel RASA1 mutation causing capillary malformation-arteriovenous malformation (CM-AVM) presenting during pregnancy.

Durrington HJ, Firth HV, Patient C, Belham M, Jayne D, Burrows N, Morrell NW, Chilvers ER.

Am J Med Genet A. 2013 Jul;161A(7):1690-4. doi: 10.1002/ajmg.a.35935. Epub 2013 May 17.

PMID:
23687085
14.

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
15.

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
16.

Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling.

Amyere M, Revencu N, Helaers R, Pairet E, Baselga E, Cordisco M, Chung W, Dubois J, Lacour JP, Martorell L, Mazereeuw-Hautier J, Pyeritz RE, Amor DJ, Bisdorff A, Blei F, Bombei H, Dompmartin A, Brooks D, Dupont J, González-Enseñat MA, Frieden I, Gérard M, Kvarnung M, Hanson-Kahn AK, Hudgins L, Léauté-Labrèze C, McCuaig C, Metry D, Parent P, Paul C, Petit F, Phan A, Quere I, Salhi A, Turner A, Vabres P, Vicente A, Wargon O, Watanabe S, Weibel L, Wilson A, Willing M, Mulliken JB, Boon LM, Vikkula M.

Circulation. 2017 Sep 12;136(11):1037-1048. doi: 10.1161/CIRCULATIONAHA.116.026886. Epub 2017 Jul 7.

PMID:
28687708
17.

Blood vascular abnormalities in Rasa1(R780Q) knockin mice: implications for the pathogenesis of capillary malformation-arteriovenous malformation.

Lubeck BA, Lapinski PE, Bauler TJ, Oliver JA, Hughes ED, Saunders TL, King PD.

Am J Pathol. 2014 Dec;184(12):3163-9. doi: 10.1016/j.ajpath.2014.08.018. Epub 2014 Oct 3.

18.

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
19.

Capillary malformation-arteriovenous malformation syndrome: a report of 2 cases, diagnostic criteria, and management.

Català A, Roé E, Vikkula M, Baselga E.

Actas Dermosifiliogr. 2013 Oct;104(8):710-3. doi: 10.1016/j.adengl.2012.04.025. Epub 2013 Aug 8.

PMID:
23933248
20.

Nocturnal headaches and pulsatile cranial mass: the tip of an iceberg.

Smith AR, Carpenter J, Pergami P.

Pediatr Neurol. 2013 Nov;49(5):358-60. doi: 10.1016/j.pediatrneurol.2013.05.010.

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