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Journal Abstract Search

199 related items for PubMed ID: 21077203

  • 1. 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; 152A(12):3101-6. PubMed ID: 21077203
    [Abstract] [Full Text] [Related]

  • 2. Macrocephaly-capillary malformation presenting with fetal arrhythmia.
    Kuint J, Globus O, Ben Simon GJ, Greenberger S.
    Pediatr Dermatol; 2012 Dec; 29(3):384-6. PubMed ID: 22329570
    [Abstract] [Full Text] [Related]

  • 3. A CASE OF MACROCEPHALY-CAPILLARY MALFORMATION SYNDROME PRESENTING WITH HOT WATER EPILEPSY.
    Yilmaz S, Tekin H, Kitis O, Serdaroglu G, Tekgul H, Gokben S.
    Genet Couns; 2015 Dec; 26(3):333-7. PubMed ID: 26625665
    [No Abstract] [Full Text] [Related]

  • 4. Macrocephaly-capillary malformation: a report of four Chinese patients and literature review.
    Luk HM, Lo IFM, Lai CWS, Yeung WL, Lam STS.
    Clin Dysmorphol; 2012 Apr; 21(2):64-68. PubMed ID: 22258436
    [Abstract] [Full Text] [Related]

  • 5. Wilms tumor screening in diffuse capillary malformation with overgrowth and macrocephaly-capillary malformation: A retrospective study.
    Peterman CM, Vadeboncoeur S, Mulliken JB, Fishman SJ, Liang MG.
    J Am Acad Dermatol; 2017 Nov; 77(5):874-878. PubMed ID: 28822558
    [Abstract] [Full Text] [Related]

  • 6. Germline PTPN11 and somatic PIK3CA variant in a boy with megalencephaly-capillary malformation syndrome (MCAP)--pure coincidence?
    Döcker D, Schubach M, Menzel M, Spaich C, Gabriel HD, Zenker M, Bartholdi D, Biskup S.
    Eur J Hum Genet; 2015 Mar; 23(3):409-12. PubMed ID: 24939587
    [Abstract] [Full Text] [Related]

  • 7. Discordant monozygotic twins for macrocephaly-capillary malformation.
    Lederer D, Rack K, Boulanger S, Battisti O, Verellen-Dumoulin C.
    Am J Med Genet A; 2012 Jun; 158A(6):1509-11. PubMed ID: 22585741
    [No Abstract] [Full Text] [Related]

  • 8. Clinical overlap between CLAPO syndrome and macrocephaly-capillary malformation syndrome.
    Ivars M, Boixeda P, Triana P, Martinez-Glez V, Rodríguez-Laguna L, Agra N, López-Gutiérrez JC.
    J Dtsch Dermatol Ges; 2020 May; 18(5):479-482. PubMed ID: 32413215
    [No Abstract] [Full Text] [Related]

  • 9. Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA)-related overgrowth spectrum: A brief report.
    Denorme P, Morren MA, Hollants S, Spaepen M, Suaer K, Zutterman N, Labarque V, Legius E, Brems H.
    Pediatr Dermatol; 2018 May; 35(3):e186-e188. PubMed ID: 29493003
    [Abstract] [Full Text] [Related]

  • 10. 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]

  • 11. The misnomer "macrocephaly-cutis marmorata telangiectatica congenita syndrome": report of 12 new cases and support for revising the name to macrocephaly-capillary malformations.
    Wright DR, Frieden IJ, Orlow SJ, Shin HT, Chamlin S, Schaffer JV, Paller AS.
    Arch Dermatol; 2009 Mar; 145(3):287-93. PubMed ID: 19289759
    [Abstract] [Full Text] [Related]

  • 12. The utility of cerebrospinal fluid-derived cell-free DNA in molecular diagnostics for the PIK3CA-related megalencephaly-capillary malformation (MCAP) syndrome: a case report.
    Chen WL, Pao E, Owens J, Glass I, Pritchard C, Shirts BH, Lockwood C, Mirzaa GM.
    Cold Spring Harb Mol Case Stud; 2022 Apr; 8(3):. PubMed ID: 35483878
    [Abstract] [Full Text] [Related]

  • 13. Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis.
    Mirzaa GM, Conway RL, Gripp KW, Lerman-Sagie T, Siegel DH, deVries LS, Lev D, Kramer N, Hopkins E, Graham JM, Dobyns WB.
    Am J Med Genet A; 2012 Feb; 158A(2):269-91. PubMed ID: 22228622
    [Abstract] [Full Text] [Related]

  • 14. [Macrocephaly-capillary malformation. A neonatal case].
    Coste K, Sarret C, Cisse A, Delabaere A, Francannet C, Vanlieferinghen P.
    Arch Pediatr; 2012 Sep; 19(9):917-20. PubMed ID: 22884750
    [Abstract] [Full Text] [Related]

  • 15. Macrocephaly-capillary malformation: a report of three cases and review of the literature.
    Gonzalez ME, Burk CJ, Barbouth DS, Connelly EA.
    Pediatr Dermatol; 2009 Sep; 26(3):342-6. PubMed ID: 19706101
    [Abstract] [Full Text] [Related]

  • 16. Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials.
    Garde A, Guibaud L, Goldenberg A, Petit F, Dard R, Roume J, Mazereeuw-Hautier J, Chassaing N, Lacombe D, Morice-Picard F, Toutain A, Arpin S, Boccara O, Touraine R, Blanchet P, Coubes C, Willems M, Pinson L, Van Kien PK, Chiaverini C, Giuliano F, Alessandri JL, Mathieu-Dramard M, Morin G, Bursztejn AC, Mignot C, Doummar D, Di Rocco F, Cornaton J, Nicolas C, Gautier E, Luu M, Bardou M, Sorlin A, Philippe C, Edery P, Rossi M, Carmignac V, Thauvin-Robinet C, Vabres P, Faivre L.
    Clin Genet; 2021 May; 99(5):650-661. PubMed ID: 33415748
    [Abstract] [Full Text] [Related]

  • 17. Severe holocord syrinx in a child with megalencephaly-capillary malformation syndrome.
    Segal D, Heary RF, Sabharwal S, Barry MT, Ming X.
    J Neurosurg Pediatr; 2016 Jul; 18(1):79-82. PubMed ID: 27035547
    [Abstract] [Full Text] [Related]

  • 18. Vascular Stains: Proposal for a Clinical Classification to Improve Diagnosis and Management.
    Rozas-Muñoz E, Frieden IJ, Roé E, Puig L, Baselga E.
    Pediatr Dermatol; 2016 Nov; 33(6):570-584. PubMed ID: 27456075
    [Abstract] [Full Text] [Related]

  • 19. MRI and neurological findings in macrocephaly-cutis marmorata telangiectatica congenita syndrome: report of ten cases and review of the literature.
    Garavelli L, Leask K, Zanacca C, Pedori S, Albertini G, Della Giustina E, Croci GF, Magnani C, Banchini G, Clayton-Smith J, Bocian M, Firth H, Gold JA, Hurst J.
    Genet Couns; 2005 Nov; 16(2):117-28. PubMed ID: 16080291
    [Abstract] [Full Text] [Related]

  • 20. Capillary malformation--arteriovenous malformation syndrome: review of the literature, proposed diagnostic criteria, and recommendations for management.
    Orme CM, Boyden LM, Choate KA, Antaya RJ, King BA.
    Pediatr Dermatol; 2013 Nov; 30(4):409-15. PubMed ID: 23662773
    [Abstract] [Full Text] [Related]

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