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Journal Abstract Search

393 related items for PubMed ID: 32605345

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  • 3. 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. PubMed ID: 26096958
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  • 4. 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 Oct; 145(8-9):486-491. PubMed ID: 30056992
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  • 6. 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; 41(9):812-816. PubMed ID: 31230861
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  • 7. 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; 204():106612. PubMed ID: 33799089
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  • 10. A novel RASA1 mutation causing capillary malformation-arteriovenous malformation (CM-AVM): the first genetic clinical report in East Asia.
    Cai R, Liu F, Hua C, Yu Z, Ramien M, Malic C, Yu W, Zhang X, Liu Y, Jin Y, Hu X, Lin X.
    Hereditas; 2018 May; 155():24. PubMed ID: 30026675
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  • 11. 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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  • 12. EPHB4 Mutation Implicated in Capillary Malformation-Arteriovenous Malformation Syndrome: A Case Report.
    Yu J, Streicher JL, Medne L, Krantz ID, Yan AC.
    Pediatr Dermatol; 2017 Sep; 34(5):e227-e230. PubMed ID: 28730721
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  • 13. 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; 61(1):11-16. PubMed ID: 29024832
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  • 16. 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. PubMed ID: 25059281
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  • 17. Prenatal Clinical Findings in RASA1-Related Capillary Malformation-Arteriovenous Malformation Syndrome.
    Coccia E, Valeri L, Zuntini R, Caraffi SG, Peluso F, Pagliai L, Vezzani A, Pietrangiolillo Z, Leo F, Melli N, Fiorini V, Greco A, Lepri FR, Pisaneschi E, Marozza A, Carli D, Mussa A, Radio FC, Conti B, Iascone M, Gargano G, Novelli A, Tartaglia M, Zuffardi O, Bedeschi MF, Garavelli L.
    Genes (Basel); 2023 Feb 22; 14(3):. PubMed ID: 36980822
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  • 20. 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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