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Journal Abstract Search

178 related items for PubMed ID: 29110021

  • 1. Search for RASA1 Variants in Capillary Malformations of the Legs in 113 Children: Results from the French National Paediatric Cohort CONAPE.
    Maruani A, Durieux-Verde M, Mazereeuw-Hautier J, Boccara O, Martin L, Chiaverini C, Eschard C, Bénéton N, Vabres P, Balguerie X, Plantin P, Bessis D, Barbarot S, Dadban A, Droitcourt C, Berthelot A, Lorette G, Leducq S, Samimi M, Andres C, Caille A, Vourc'h P, Groupe de Recherche de la Société Française de Dermatologie.
    Acta Derm Venereol; 2018 Feb 07; 98(2):251-255. PubMed ID: 29110021
    [Abstract] [Full Text] [Related]

  • 2. 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 07; 34(12):1632-41. PubMed ID: 24038909
    [Abstract] [Full Text] [Related]

  • 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 07; 170(6):1450-4. PubMed ID: 26969842
    [Abstract] [Full Text] [Related]

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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
    [Abstract] [Full Text] [Related]

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

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

  • 8. 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]

  • 9. 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
    [Abstract] [Full Text] [Related]

  • 10. Single dominant lesion in capillary malformation-arteriovenous malformation (CM-AVM) RASA1 syndrome.
    Sánchez-Espino LF, Ivars M, Prat Torres C, Lavarino CE, Olaciregui NG, Zurriaga CR, Passini VPC, Serrano MB, Baselga E.
    Pediatr Dermatol; 2024 Oct 12; 41(5):861-865. PubMed ID: 38556785
    [Abstract] [Full Text] [Related]

  • 11. Blood vascular abnormalities in Rasa1(R780Q) knockin mice: implications for the pathogenesis of capillary malformation-arteriovenous malformation.
    Lubeck BA, Lapinski PE, Bauler TJ, Oliver JA, Hughes ED, Saunders TL, King PD.
    Am J Pathol; 2014 Dec 12; 184(12):3163-9. PubMed ID: 25283357
    [Abstract] [Full Text] [Related]

  • 12. 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 12; 35(1):e9-e12. PubMed ID: 29120072
    [Abstract] [Full Text] [Related]

  • 13. 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]

  • 14. 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 12; 104(8):710-3. PubMed ID: 23933248
    [Abstract] [Full Text] [Related]

  • 15. 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
    [Abstract] [Full Text] [Related]

  • 16. Clinical spectrum of capillary malformation-arteriovenous malformation syndrome presenting to a pediatric dermatology practice: a retrospective study.
    Weitz NA, Lauren CT, Behr GG, Wu JK, Kandel JJ, Meyers PM, Sultan S, Anyane-Yeboa K, Morel KD, Garzon MC.
    Pediatr Dermatol; 2015 Oct 12; 32(1):76-84. PubMed ID: 25040287
    [Abstract] [Full Text] [Related]

  • 17. 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
    [Abstract] [Full Text] [Related]

  • 18. 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 12; 182(10):2454-2460. PubMed ID: 32776686
    [No Abstract] [Full Text] [Related]

  • 19. 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 12; 32(4):709-15. PubMed ID: 26499346
    [Abstract] [Full Text] [Related]

  • 20. Another face of RASA1: Report of familial germline variant in RASA1 with dysmorphic features.
    Hume E, Cossio ML, Vargas P, Cubillos MP, Maccioni A, Lay-Son G.
    Am J Med Genet A; 2024 Nov 12; 194(11):e63711. PubMed ID: 38934655
    [Abstract] [Full Text] [Related]

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