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Journal Abstract Search

207 related items for PubMed ID: 20007727

  • 1. 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. PubMed ID: 20007727
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  • 3. 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. PubMed ID: 26969842
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  • 4. 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. PubMed ID: 26499346
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  • 5. 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. PubMed ID: 28687708
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  • 7. Expanding the clinical and molecular findings in RASA1 capillary malformation-arteriovenous malformation.
    Wooderchak-Donahue WL, Johnson P, McDonald J, Blei F, Berenstein A, Sorscher M, Mayer J, Scheuerle AE, Lewis T, Grimmer JF, Richter GT, Steeves MA, Lin AE, Stevenson DA, Bayrak-Toydemir P.
    Eur J Hum Genet; 2018 Oct 12; 26(10):1521-1536. PubMed ID: 29891884
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  • 8. RASA1 mutations may cause hereditary capillary malformations without arteriovenous malformations.
    Hershkovitz D, Bercovich D, Sprecher E, Lapidot M.
    Br J Dermatol; 2008 May 12; 158(5):1035-40. PubMed ID: 18363760
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  • 9. Spectrum of lymphatic anomalies in patients with RASA1-related CM-AVM.
    Mologousis MA, Ostertag-Hill CA, Haimes H, Fishman SJ, Mulliken JB, Liang MG.
    Pediatr Dermatol; 2023 May 12; 40(6):1028-1034. PubMed ID: 37767822
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  • 10. Coexistence of RASA1 and COL4A2 variants caused pial arteriovenous fistula (AVF) in a patient with capillary malformation-arteriovenous malformation.
    Kumai T, Sadato A, Kurahashi H, Kato T, Adachi K, Hirose Y.
    Clin Neurol Neurosurg; 2021 May 12; 204():106612. PubMed ID: 33799089
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  • 11. 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 12; 55(2):91-5. PubMed ID: 22200646
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  • 13. RASA1 mosaic mutations in patients with capillary malformation-arteriovenous malformation.
    Revencu N, Fastre E, Ravoet M, Helaers R, Brouillard P, Bisdorff-Bresson A, Chung CWT, Gerard M, Dvorakova V, Irvine AD, Boon LM, Vikkula M.
    J Med Genet; 2020 Jan 12; 57(1):48-52. PubMed ID: 31300548
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  • 14. Multiple capillary malformations of progressive onset: Capillary malformation-arteriovenous malformation syndrome (CM-AVM).
    Gourier G, Audebert-Bellanger S, Vourc'h P, Fraitag S, L'Hérondelle K, Labouche A, Misery L, Abasq-Thomas C.
    Ann Dermatol Venereol; 2018 Jan 12; 145(8-9):486-491. PubMed ID: 30056992
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  • 15. Constitutional mosaicism in RASA1-related capillary malformation-arteriovenous malformation.
    Gordo G, Rodriguez-Laguna L, Agra N, Mendez P, Feito M, Lapunzina P, Lopez-Gutierrez JC, Martinez-Glez V.
    Clin Genet; 2019 Apr 12; 95(4):516-519. PubMed ID: 30635911
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  • 16. Somatic second hit mutation of RASA1 in vascular endothelial cells in capillary malformation-arteriovenous malformation.
    Lapinski PE, Doosti A, Salato V, North P, Burrows PE, King PD.
    Eur J Med Genet; 2018 Jan 12; 61(1):11-16. PubMed ID: 29024832
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  • 17. Novel RASA1 mutations in Japanese pedigrees with capillary malformation-arteriovenous malformation.
    Moteki Y, Akagawa H, Niimi Y, Okada Y, Kawamata T.
    Brain Dev; 2019 Oct 12; 41(9):812-816. PubMed ID: 31230861
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  • 18. 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 12; 167A(10):2440-3. PubMed ID: 26096958
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  • 19. Contemporary management of spinal AVFs and AVMs: lessons learned from 110 cases.
    Rangel-Castilla L, Russin JJ, Zaidi HA, Martinez-Del-Campo E, Park MS, Albuquerque FC, McDougall CG, Nakaji P, Spetzler RF.
    Neurosurg Focus; 2014 Sep 12; 37(3):E14. PubMed ID: 25175433
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  • 20. 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 Sep 12; 32(1):128-31. PubMed ID: 23829194
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