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Results: 1 to 20 of 24

1.

BMP9 mutations cause a vascular-anomaly syndrome with phenotypic overlap with hereditary hemorrhagic telangiectasia.

Wooderchak-Donahue WL, McDonald J, O'Fallon B, Upton PD, Li W, Roman BL, Young S, Plant P, Fülöp GT, Langa C, Morrell NW, Botella LM, Bernabeu C, Stevenson DA, Runo JR, Bayrak-Toydemir P.

Am J Hum Genet. 2013 Sep 5;93(3):530-7. doi: 10.1016/j.ajhg.2013.07.004. Epub 2013 Aug 22.

PMID:
23972370
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

The RASopathies.

Rauen KA.

Annu Rev Genomics Hum Genet. 2013;14:355-69. doi: 10.1146/annurev-genom-091212-153523. Epub 2013 Jul 15. Review.

PMID:
23875798
[PubMed - indexed for MEDLINE]
3.

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
[PubMed - indexed for MEDLINE]
4.

Capillary malformation--arteriovenous malformation syndrome: review of the literature, proposed diagnostic criteria, and recommendations for management.

Orme CM, Boyden LM, Choate KA, Antaya RJ, King BA.

Pediatr Dermatol. 2013 Jul-Aug;30(4):409-15. doi: 10.1111/pde.12112. Epub 2013 May 13. Review.

PMID:
23662773
[PubMed - indexed for MEDLINE]
5.

Lymphatic abnormalities are associated with RASA1 gene mutations in mouse and man.

Burrows PE, Gonzalez-Garay ML, Rasmussen JC, Aldrich MB, Guilliod R, Maus EA, Fife CE, Kwon S, Lapinski PE, King PD, Sevick-Muraca EM.

Proc Natl Acad Sci U S A. 2013 May 21;110(21):8621-6. doi: 10.1073/pnas.1222722110. Epub 2013 May 6.

PMID:
23650393
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Capillary malformation-arteriovenous malformation syndrome: identification of a family with a novel mutation.

Boyden LM, Orme CM, Antaya RJ, Choate KA, King BA.

J Am Acad Dermatol. 2012 Dec;67(6):e287-9. doi: 10.1016/j.jaad.2012.07.004. No abstract available.

PMID:
23158644
[PubMed - indexed for MEDLINE]
7.

Arteriovenous malformations and other vascular malformation syndromes.

Whitehead KJ, Smith MC, Li DY.

Cold Spring Harb Perspect Med. 2013 Feb 1;3(2):a006635. doi: 10.1101/cshperspect.a006635. Review.

PMID:
23125071
[PubMed - indexed for MEDLINE]
8.

The genetics of vascular anomalies.

Frigerio A, Stevenson DA, Grimmer JF.

Curr Opin Otolaryngol Head Neck Surg. 2012 Dec;20(6):527-32. doi: 10.1097/MOO.0b013e3283587415. Review.

PMID:
22913934
[PubMed - indexed for MEDLINE]
9.

RASA1 maintains the lymphatic vasculature in a quiescent functional state in mice.

Lapinski PE, Kwon S, Lubeck BA, Wilkinson JE, Srinivasan RS, Sevick-Muraca E, King PD.

J Clin Invest. 2012 Feb 1;122(2):733-47. doi: 10.1172/JCI46116. Epub 2012 Jan 9.

PMID:
22232212
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Pial arteriovenous fistulae in pediatric patients: associated syndromes and treatment outcome.

Walcott BP, Smith ER, Scott RM, Orbach DB.

J Neurointerv Surg. 2013 Jan 1;5(1):10-4. doi: 10.1136/neurintsurg-2011-010168. Epub 2012 Jan 2.

PMID:
22213836
[PubMed - indexed for MEDLINE]
11.

Multimodality treatment of a ruptured grade IV posterior fossa arteriovenous malformation in a patient pregnant with twins: case report.

Dashti SR, Spalding AC, Yao TL.

J Neurointerv Surg. 2012 Sep;4(5):e21. doi: 10.1136/neurintsurg-2011-010059. Epub 2011 Aug 11.

PMID:
21990516
[PubMed - indexed for MEDLINE]
12.

5q14.3 neurocutaneous syndrome: a novel continguous gene syndrome caused by simultaneous deletion of RASA1 and MEF2C.

Carr CW, Zimmerman HH, Martin CL, Vikkula M, Byrd AC, Abdul-Rahman OA.

Am J Med Genet A. 2011 Jul;155A(7):1640-5. doi: 10.1002/ajmg.a.34059. Epub 2011 May 27.

PMID:
21626678
[PubMed - indexed for MEDLINE]
13.

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
[PubMed - indexed for MEDLINE]
14.

Management of arteriovenous malformations.

Greene AK, Orbach DB.

Clin Plast Surg. 2011 Jan;38(1):95-106. doi: 10.1016/j.cps.2010.08.005. Review.

PMID:
21095475
[PubMed - indexed for MEDLINE]
15.

Klippel-Trenaunay syndrome and spinal arteriovenous malformations: an erroneous association.

Alomari AI, Orbach DB, Mulliken JB, Bisdorff A, Fishman SJ, Norbash A, Alokaili R, Lord DJ, Burrows PE.

AJNR Am J Neuroradiol. 2010 Oct;31(9):1608-12. doi: 10.3174/ajnr.A2167. Epub 2010 Jul 22. Review.

PMID:
20651014
[PubMed - indexed for MEDLINE]
Free Article
16.

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.

PMID:
20007727
[PubMed - indexed for MEDLINE]
Free Article
17.

De novo cerebral arteriovenous malformation: case report and literature review.

Stevens J, Leach JL, Abruzzo T, Jones BV.

AJNR Am J Neuroradiol. 2009 Jan;30(1):111-2. doi: 10.3174/ajnr.A1255. Epub 2008 Sep 3. Review.

PMID:
18768726
[PubMed - indexed for MEDLINE]
Free Article
18.

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
[PubMed - indexed for MEDLINE]
19.

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
[PubMed - indexed for MEDLINE]
20.

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
[PubMed - indexed for MEDLINE]

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