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Journal Abstract Search

165 related items for PubMed ID: 24139535

  • 1. 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. PubMed ID: 24139535
    [Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. Atypical capillary malformations with subsequent diplegia: A difficult case of capillary malformation-arteriovenous malformation syndrome.
    Plumptre I, Robertson F, Rennie A, James G, Syed SB.
    Pediatr Dermatol; 2020 Jan; 37(1):162-164. PubMed ID: 31746477
    [Abstract] [Full Text] [Related]

  • 4. 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. PubMed ID: 24038909
    [Abstract] [Full Text] [Related]

  • 5. RASA1 mutation in a family with capillary malformation-arteriovenous malformation syndrome: A discussion of the differential diagnosis.
    Edwards LR, Blechman AB, Zlotoff BJ.
    Pediatr Dermatol; 2018 Jan; 35(1):e9-e12. PubMed ID: 29120072
    [Abstract] [Full Text] [Related]

  • 6. 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
    [Abstract] [Full Text] [Related]

  • 7. 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
    [Abstract] [Full Text] [Related]

  • 8. 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 Apr; 145(8-9):486-491. PubMed ID: 30056992
    [Abstract] [Full Text] [Related]

  • 9. 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. PubMed ID: 23933248
    [Abstract] [Full Text] [Related]

  • 10. 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; 95(4):516-519. PubMed ID: 30635911
    [Abstract] [Full Text] [Related]

  • 11. Capillary malformation-arteriovenous malformation syndrome associated with basilar artery aneurysm.
    Guimaraes MJ, Gomes J, Lopes G, Caldas R, Brito C.
    Pediatr Dermatol; 2022 Jul; 39(4):662-663. PubMed ID: 35503512
    [Abstract] [Full Text] [Related]

  • 12. [Neonatal capillary malformation-arteriovenous malformation complicated with acute heart failure: a case report and literature review].
    Wang LJ, Sun JH, Bei F.
    Zhonghua Er Ke Za Zhi; 2020 Jul 02; 58(7):591-595. PubMed ID: 32605345
    [Abstract] [Full Text] [Related]

  • 13. 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
    [Abstract] [Full Text] [Related]

  • 14. 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
    [Abstract] [Full Text] [Related]

  • 15. The protean manifestations of RASA1 gene mutation.
    Nicholson P, Holder SE, Carton J, Wakelin S.
    Clin Exp Dermatol; 2019 Oct 12; 44(7):818-821. PubMed ID: 30614029
    [No Abstract] [Full Text] [Related]

  • 16. 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 12; 34(5):e227-e230. PubMed ID: 28730721
    [Abstract] [Full Text] [Related]

  • 17. Capillary Malformation-Arteriovenous Malformation Syndrome.
    Sibley CD, Ramien ML.
    JAMA Dermatol; 2019 Jun 01; 155(6):733. PubMed ID: 31017636
    [No Abstract] [Full Text] [Related]

  • 18. A novel mutation of RASA1 in capillary malformation-arteriovenous malformation syndrome in a case with spinal cord involvement.
    Moreno-Estébanez A, Losada Domingo JM, Catalli C, González-Pinto González T, Agirre-Beitia G, Campos Rodríguez I, Díaz-Cuervo I, Lasa Elgezua O.
    Clin Neurol Neurosurg; 2020 Aug 01; 195():105965. PubMed ID: 32485551
    [No Abstract] [Full Text] [Related]

  • 19. 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 01; 61(1):11-16. PubMed ID: 29024832
    [Abstract] [Full Text] [Related]

  • 20. 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 01; 167A(10):2440-3. PubMed ID: 26096958
    [Abstract] [Full Text] [Related]

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