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Journal Abstract Search

213 related items for PubMed ID: 23801933

  • 1. Germline Mutations in RASA1 Are Not Found in Patients with Klippel-Trenaunay Syndrome or Capillary Malformation with Limb Overgrowth.
    Revencu N, Boon LM, Dompmartin A, Rieu P, Busch WL, Dubois J, Forzano F, van Hagen JM, Halbach S, Kuechler A, Lachmeijer AM, Lähde J, Russell L, Simola KO, Mulliken JB, Vikkula M.
    Mol Syndromol; 2013 Apr; 4(4):173-8. PubMed ID: 23801933
    [Abstract] [Full Text] [Related]

  • 2. A novel mutation in RASA1 causes capillary malformation and limb enlargement.
    Hershkovitz D, Bergman R, Sprecher E.
    Arch Dermatol Res; 2008 Aug; 300(7):385-8. PubMed ID: 18327598
    [Abstract] [Full Text] [Related]

  • 3. Parkes Weber syndrome-Diagnostic and management paradigms: A systematic review.
    Banzic I, Brankovic M, Maksimović Ž, Davidović L, Marković M, Rančić Z.
    Phlebology; 2017 Jul; 32(6):371-383. PubMed ID: 27511883
    [Abstract] [Full Text] [Related]

  • 4. 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]

  • 5.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Bayrak-Toydemir P, Stevenson DA.
    ; 1993 Jun. PubMed ID: 21348050
    [Abstract] [Full Text] [Related]

  • 6. Parkes Weber syndrome associated with two somatic pathogenic variants in RASA1.
    Flores Daboub JA, Grimmer JF, Frigerio A, Wooderchak-Donahue W, Arnold R, Szymanski J, Longo N, Bayrak-Toydemir P.
    Cold Spring Harb Mol Case Stud; 2020 Aug; 6(4):. PubMed ID: 32843429
    [Abstract] [Full Text] [Related]

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  • 8. 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]

  • 9.
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  • 10. Capillary-venous malformation in the lower limb.
    Uihlein LC, Liang MG, Fishman SJ, Alomari AI, Mulliken JB.
    Pediatr Dermatol; 2013 Dec; 30(5):541-8. PubMed ID: 23829172
    [Abstract] [Full Text] [Related]

  • 11. Combined capillary-venous-lymphatic malformations without overgrowth in patients with Klippel-Trénaunay syndrome.
    Brandigi E, Torino G, Messina M, Molinaro F, Mazzei O, Matucci T, López Gutiérrez JC.
    J Vasc Surg Venous Lymphat Disord; 2018 Mar; 6(2):230-236. PubMed ID: 29233587
    [Abstract] [Full Text] [Related]

  • 12. Parkes weber syndrome involving right lower limb: a case report.
    Kondapavuluri BK, Bharadwaj RN, Shaikh S, Chand A, Chaturvedi V.
    Indian J Surg; 2015 Apr; 77(Suppl 1):130-4. PubMed ID: 25972672
    [Abstract] [Full Text] [Related]

  • 13. Parkes Weber or Klippel-Trenaunay syndrome? Non-invasive diagnosis with MR projection angiography.
    Ziyeh S, Spreer J, Rössler J, Strecker R, Hochmuth A, Schumacher M, Klisch J.
    Eur Radiol; 2004 Nov; 14(11):2025-9. PubMed ID: 15007616
    [Abstract] [Full Text] [Related]

  • 14. 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; 55(2):91-5. PubMed ID: 22200646
    [Abstract] [Full Text] [Related]

  • 15. Pseudo-Kaposi sarcoma induced by minor trauma in a patient with Klippel-Trenaunay-Weber syndrome.
    Del-Río E, Aguilar A, Ambrojo P, Vélez A, Sánchez Yus E.
    Clin Exp Dermatol; 1993 Mar; 18(2):151-3. PubMed ID: 8386988
    [Abstract] [Full Text] [Related]

  • 16. Clinical and Molecular Spectrum of Sporadic Vascular Malformations: A Single-Center Study.
    Diociaiuti A, Rotunno R, Pisaneschi E, Cesario C, Carnevale C, Condorelli AG, Rollo M, Di Cecca S, Quintarelli C, Novelli A, Zambruno G, El Hachem M.
    Biomedicines; 2022 Jun 20; 10(6):. PubMed ID: 35740480
    [Abstract] [Full Text] [Related]

  • 17.
    Naganathan S, Tadi P.
    ; 2024 01 20. PubMed ID: 32644415
    [Abstract] [Full Text] [Related]

  • 18. Klippel-Trenaunay syndrome: a case study.
    Meier S.
    Adv Neonatal Care; 2009 Jun 20; 9(3):120-4. PubMed ID: 19542774
    [Abstract] [Full Text] [Related]

  • 19. 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]

  • 20. Klippel-Trénaunay Syndrome: Need for Careful Clinical Classification.
    Volz KR, Kanner CD, Evans J, Evans KD.
    J Ultrasound Med; 2016 Sep 12; 35(9):2057-65. PubMed ID: 27492391
    [Abstract] [Full Text] [Related]

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