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Journal Abstract Search

192 related items for PubMed ID: 31017636

  • 1. 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]

  • 2. 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 01; 35(1):e9-e12. PubMed ID: 29120072
    [Abstract] [Full Text] [Related]

  • 3. 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]

  • 4. 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 01; 104(8):710-3. PubMed ID: 23933248
    [Abstract] [Full Text] [Related]

  • 5. 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 01; 37(1):162-164. PubMed ID: 31746477
    [Abstract] [Full Text] [Related]

  • 6. RASA-1 somatic "second hit" mutation in capillary malformation-arteriovenous malformation.
    Cai R, Liu F, Liu Y, Chen H, Lin X.
    J Dermatol; 2018 Dec 01; 45(12):1478-1480. PubMed ID: 30368862
    [No Abstract] [Full Text] [Related]

  • 7. 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 01; 170(6):1450-4. PubMed ID: 26969842
    [Abstract] [Full Text] [Related]

  • 8. Prenatal pleural effusions and chylothorax: An unusual presentation for CM-AVM syndrome due to RASA1.
    D'Amours G, Brunel-Guitton C, Delrue MA, Dubois J, Laberge S, Soucy JF.
    Am J Med Genet A; 2020 Oct 01; 182(10):2454-2460. PubMed ID: 32776686
    [No Abstract] [Full Text] [Related]

  • 9. 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 01; 95(4):516-519. PubMed ID: 30635911
    [Abstract] [Full Text] [Related]

  • 10. 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 01; 34(5):e227-e230. PubMed ID: 28730721
    [Abstract] [Full Text] [Related]

  • 11. Capillary Malformation-arteriovenous Malformation Type 2: A Case Report and Review.
    Brix ATH, Tørring PM, Bygum A.
    Acta Derm Venereol; 2022 Mar 08; 102():adv00662. PubMed ID: 35088870
    [Abstract] [Full Text] [Related]

  • 12. The protean manifestations of RASA1 gene mutation.
    Nicholson P, Holder SE, Carton J, Wakelin S.
    Clin Exp Dermatol; 2019 Oct 08; 44(7):818-821. PubMed ID: 30614029
    [No Abstract] [Full Text] [Related]

  • 13. 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 08; 34(12):1632-41. PubMed ID: 24038909
    [Abstract] [Full Text] [Related]

  • 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 Dec 08; 145(8-9):486-491. PubMed ID: 30056992
    [Abstract] [Full Text] [Related]

  • 15. 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 08; 57(1):48-52. PubMed ID: 31300548
    [Abstract] [Full Text] [Related]

  • 16. Unilateral segmental presentation and a novel EPHB4 gene variant in capillary malformation-arteriovenous malformation type 2.
    Valente C, Caldeira MB, Duarte B, Batista J, Cordeiro AI.
    Pediatr Dermatol; 2024 Jan 08; 41(2):344-345. PubMed ID: 38092051
    [Abstract] [Full Text] [Related]

  • 17. 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]

  • 18. [Capillary malformation-arteriovenous malformation syndrome].
    Galán-Gutiérrez M, Ruiz-Villaverde R.
    An Pediatr (Barc); 2013 Dec 12; 79(6):374-6. PubMed ID: 23608018
    [Abstract] [Full Text] [Related]

  • 19. 5q14.3 Microdeletions: A Contiguous Gene Syndrome with Capillary Malformation-Arteriovenous Malformation Syndrome and Neurologic Findings.
    Park SM, Kim JM, Kim GW, Kim HS, Kim BS, Kim MB, Ko HC.
    Pediatr Dermatol; 2017 Mar 12; 34(2):156-159. PubMed ID: 28297145
    [Abstract] [Full Text] [Related]

  • 20. Rhodoid naevus syndrome: why is this name preferable to 'capillary malformation-arteriovenous malformation'?
    Panzer R, Happle R, Fölster-Holst R.
    J Eur Acad Dermatol Venereol; 2017 Oct 12; 31(10):e446-e448. PubMed ID: 28401589
    [No Abstract] [Full Text] [Related]

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