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Items: 1 to 20 of 96

1.

Hypotrichosis associated with capillary malformation-arteriovenous malformation syndrome.

Martín-Santiago A, Knöpfel N, del Pozo J, Escalas J, Bartolomé B, Janer V, Pascual M, Nieto C, Hervás JA.

Br J Dermatol. 2015 Feb;172(2):450-4. doi: 10.1111/bjd.13287. Epub 2014 Dec 11.

PMID:
25059281
2.

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
3.

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
4.

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
5.

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
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.

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
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.

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
10.

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
11.

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.

12.

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.

13.

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
14.

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
15.

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.

16.

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
17.

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
18.

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.

19.

Heredity of port-wine stains: investigation of families without a RASA1 mutation.

Troilius Rubin A, Lauritzen E, Ljunggren B, Revencu N, Vikkula M, Svensson Å.

J Cosmet Laser Ther. 2015;17(4):204-8. doi: 10.3109/14764172.2015.1007060. Epub 2015 Mar 12.

20.

Multifocal capillary malformations in an older, asymptomatic child with a novel RASA1 mutation.

Whitaker S, Leech S, Taylor A, Splitt M, Natarajan S, Rajan N.

Clin Exp Dermatol. 2016 Mar;41(2):156-8. doi: 10.1111/ced.12696. Epub 2015 Jun 30.

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