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Journal Abstract Search

151 related items for PubMed ID: 21271646

  • 1. A new syndrome with multiple capillary malformations, intractable seizures, and brain and limb anomalies.
    Carter MT, Geraghty MT, De La Cruz L, Reichard RR, Boccuto L, Schwartz CE, Clericuzio CL.
    Am J Med Genet A; 2011 Feb; 155A(2):301-6. PubMed ID: 21271646
    [Abstract] [Full Text] [Related]

  • 2. 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; 34(2):156-159. PubMed ID: 28297145
    [Abstract] [Full Text] [Related]

  • 3. Widespread capillary malformation associated with global developmental delay and megalencephaly.
    Leech SN, Taylor AEM, Ramesh V, Birchall D, Ann Lynch S.
    Clin Dysmorphol; 2004 Jul; 13(3):169-172. PubMed ID: 15194954
    [Abstract] [Full Text] [Related]

  • 4. Microphthalmia, facial anomalies, microcephaly, thumb and hallux hypoplasia, and agammaglobulinemia.
    Verloes A, Dresse MF, Keutgen H, Asplund C, Smith CI.
    Am J Med Genet; 2001 Jul 01; 101(3):209-12. PubMed ID: 11424135
    [Abstract] [Full Text] [Related]

  • 5. Brachydactyly with extrahepatic biliary atresia, patent ductus arteriosus and seizures--a new syndrome?
    Roper EC, Hobson EE, Sprigg A, Dobbie A, Parker MJ.
    Clin Dysmorphol; 2005 Jul 01; 14(3):117-121. PubMed ID: 15930899
    [Abstract] [Full Text] [Related]

  • 6. Multiple capillary skin malformations, epilepsy, microcephaly, mental retardation, hypoplasia of the distal phalanges: report of a new case and further delineation of a new syndrome.
    Isidor B, Barbarot S, Bénéteau C, Le Caignec C, David A.
    Am J Med Genet A; 2011 Jun 01; 155A(6):1458-60. PubMed ID: 21548128
    [No Abstract] [Full Text] [Related]

  • 7. Capillary malformation-arteriovenous malformation: a clinical review of 45 patients.
    Larralde M, Abad ME, Luna PC, Hoffner MV.
    Int J Dermatol; 2014 Apr 01; 53(4):458-61. PubMed ID: 24168113
    [Abstract] [Full Text] [Related]

  • 8. The microcephaly-capillary malformation syndrome in two brothers with novel clinical features.
    Pavlović M, Neubauer D, Al Tawari A, Heberle LC.
    Pediatr Neurol; 2014 Oct 01; 51(4):560-5. PubMed ID: 25266620
    [Abstract] [Full Text] [Related]

  • 9. Facial port-wine stains - clinical stratification and risks of neuro-ocular involvement.
    Ch'ng S, Tan ST.
    J Plast Reconstr Aesthet Surg; 2008 Aug 01; 61(8):889-93. PubMed ID: 17604243
    [Abstract] [Full Text] [Related]

  • 10. PHACE syndrome misdiagnosed as a port-wine stain.
    Thomson J, Greig A, Lloyd C, Morrison D, Flohr C.
    BMJ Case Rep; 2015 Jul 15; 2015():. PubMed ID: 26177999
    [Abstract] [Full Text] [Related]

  • 11. Two siblings with a new Aicardi-Goutières-like syndrome.
    Schwarz KB, Ferrie CD, Woods CG.
    Dev Med Child Neurol; 2002 Jun 15; 44(6):422-5. PubMed ID: 12088311
    [Abstract] [Full Text] [Related]

  • 12. Macrocephaly-capillary malformation: Analysis of 13 patients and review of the diagnostic criteria.
    Martínez-Glez V, Romanelli V, Mori MA, Gracia R, Segovia M, González-Meneses A, López-Gutierrez JC, Gean E, Martorell L, Lapunzina P.
    Am J Med Genet A; 2010 Dec 15; 152A(12):3101-6. PubMed ID: 21077203
    [Abstract] [Full Text] [Related]

  • 13. 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 15; 145(8-9):486-491. PubMed ID: 30056992
    [Abstract] [Full Text] [Related]

  • 14. Novel STAMBP mutation and additional findings in an Arabic family.
    Faqeih EA, Bastaki L, Rosti RO, Spencer EG, Zada AP, Saleh MA, Um K, Gleeson JG.
    Am J Med Genet A; 2015 Apr 15; 167A(4):805-9. PubMed ID: 25692795
    [Abstract] [Full Text] [Related]

  • 15. [Neu-Laxova syndrome: Three case reports and a review of the literature].
    Darouich S, Boujelbene N, Kehila M, Chanoufi MB, Reziga H, Gaigi S, Masmoudi A.
    Ann Pathol; 2016 Aug 15; 36(4):235-44. PubMed ID: 27475004
    [Abstract] [Full Text] [Related]

  • 16. Capillary malformation of the lower lip, lymphatic malformation of the face and neck, asymmetry and partial/generalized overgrowth (CLAPO): report of six cases of a new syndrome/association.
    López-Gutiérrez JC, Lapunzina P.
    Am J Med Genet A; 2008 Oct 15; 146A(20):2583-8. PubMed ID: 18798326
    [Abstract] [Full Text] [Related]

  • 17. Neu-Laxova Syndrome: An Unusual Association with Kyphosis.
    Kaur A, Suranagi V, Patil K, Bannur H.
    Turk Patoloji Derg; 2018 Oct 15; 34(3):259-261. PubMed ID: 28272663
    [Abstract] [Full Text] [Related]

  • 18. Capillary malformations in a child caused by a novel HRAS mutation.
    van Gysel D, de Maeseneer H, Legius E, Brems H.
    Pediatr Dermatol; 2024 Oct 15; 41(2):289-291. PubMed ID: 38018302
    [Abstract] [Full Text] [Related]

  • 19. Capillary malformation associated with angiolipoma: analysis of 127 consecutive clinic patients.
    Lapidoth M, Ben Amitai D, Feinmesser M, Akerman L.
    Am J Clin Dermatol; 2008 Oct 15; 9(6):389-92. PubMed ID: 18973405
    [Abstract] [Full Text] [Related]

  • 20. 9q34.3 deletion syndrome in three unrelated children.
    Iwakoshi M, Okamoto N, Harada N, Nakamura T, Yamamori S, Fujita H, Niikawa N, Matsumoto N.
    Am J Med Genet A; 2004 Apr 30; 126A(3):278-83. PubMed ID: 15054842
    [Abstract] [Full Text] [Related]

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