메뉴 건너뛰기




Volumn 55, Issue 2, 2012, Pages 91-95

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

Author keywords

Arteriovenous fistula (AVF); Arteriovenous malformation (AVM); Capillary malformation; RASA1; Vascular malformation

Indexed keywords

NUCLEAR PROTEIN; RASA1 PROTEIN; UNCLASSIFIED DRUG;

EID: 84857439472     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2011.11.008     Document Type: Article
Times cited : (31)

References (9)
  • 3
    • 19444387096 scopus 로고    scopus 로고
    • RASA1: variable phenotype with capillary and arteriovenous malformations
    • Boon L.M., Mulliken J.B., Vikkula M. RASA1: variable phenotype with capillary and arteriovenous malformations. Curr. Opin. Genet. Dev. 2005, 15:265-269.
    • (2005) Curr. Opin. Genet. Dev. , vol.15 , pp. 265-269
    • Boon, L.M.1    Mulliken, J.B.2    Vikkula, M.3
  • 4
    • 42049117619 scopus 로고    scopus 로고
    • RASA1 mutations may cause hereditary capillary malformations without arteriovenous malformations
    • Hershkovitz D., Bercovich D., Sprecher E., Lapidot M. RASA1 mutations may cause hereditary capillary malformations without arteriovenous malformations. Br. J. Dermatol. 2008, 158:1035-1040.
    • (2008) Br. J. Dermatol. , vol.158 , pp. 1035-1040
    • Hershkovitz, D.1    Bercovich, D.2    Sprecher, E.3    Lapidot, M.4
  • 6
    • 84860200575 scopus 로고    scopus 로고
    • RASA1 related disorders
    • University of Washington, Seattle, R.A. Pagon, T.D. Bird, C.R. Dolan, K. Stephens (Eds.)
    • Bayrak Toydemir P., Stevenson D. RASA1 related disorders. GeneReviews 2011, University of Washington, Seattle. http://www.ncbi.nlm.nih.gov/books/NBK52764/, R.A. Pagon, T.D. Bird, C.R. Dolan, K. Stephens (Eds.).
    • (2011) GeneReviews
    • Bayrak Toydemir, P.1    Stevenson, D.2
  • 7
    • 68649121646 scopus 로고    scopus 로고
    • The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation
    • Tidyman W.E., Rauen K.A. The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation. Curr. Opin. Genet. Dev. 2009, 19:230-236.
    • (2009) Curr. Opin. Genet. Dev. , vol.19 , pp. 230-236
    • Tidyman, W.E.1    Rauen, K.A.2
  • 8
    • 79959521940 scopus 로고    scopus 로고
    • 5q14.3 neurocutaneous syndrome: a novel contiguous gene syndrome caused by simultaneous deletion of RASA1 and MEF2C
    • Carr C.W., Zimmerman H.H., Martin C.L., Vikkula M., Byrd A.C., Abdul-Rahman O.A. 5q14.3 neurocutaneous syndrome: a novel contiguous gene syndrome caused by simultaneous deletion of RASA1 and MEF2C. Am. J. Med. Genet. A 2011, 155:1640-1645.
    • (2011) Am. J. Med. Genet. A , vol.155 , pp. 1640-1645
    • Carr, C.W.1    Zimmerman, H.H.2    Martin, C.L.3    Vikkula, M.4    Byrd, A.C.5    Abdul-Rahman, O.A.6
  • 9
    • 78149464700 scopus 로고    scopus 로고
    • MiR-335 is involved in the rat epididymal development by targeting the mRNA of RASA1
    • Wang J., Ruan K. miR-335 is involved in the rat epididymal development by targeting the mRNA of RASA1. Biochem. Biophys. Res. Commun. 2010, 402:222-227.
    • (2010) Biochem. Biophys. Res. Commun. , vol.402 , pp. 222-227
    • Wang, J.1    Ruan, K.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.