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Journal Abstract Search

141 related items for PubMed ID: 22585741

  • 1. 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]

  • 2. 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 Jun; 26(3):333-7. PubMed ID: 26625665
    [No Abstract] [Full Text] [Related]

  • 3. 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]

  • 4. 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]

  • 5. 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]

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

  • 8. [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]

  • 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. Accurately renaming macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC) as macrocephaly-capillary malformation (M-CM).
    Toriello HV, Mulliken JB.
    Am J Med Genet A; 2007 Dec 15; 143A(24):3009. PubMed ID: 17963258
    [No Abstract] [Full Text] [Related]

  • 11. [Primary cerebral hemiatrophy associated with other malformations. A case report].
    Martí Aromir G, Gil Mateo MP, Miquel Miquel FJ, Aleu Pérez-Agramunt M, Febrer Bosch MI, Roch Pendería S.
    An Esp Pediatr; 1998 Sep 15; 49(3):305-7. PubMed ID: 9803559
    [No Abstract] [Full Text] [Related]

  • 12. 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 15; 77(5):874-878. PubMed ID: 28822558
    [Abstract] [Full Text] [Related]

  • 13. 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 15; 18(1):79-82. PubMed ID: 27035547
    [Abstract] [Full Text] [Related]

  • 14. Expanding the differential diagnosis of fetal hydrops: an unusual prenatal presentation of megalencephaly-capillary malformation syndrome.
    Swarr DT, Khalek N, Treat J, Horton MA, Mirzaa GM, Riviere JB, Dobyns WB, Zackai EH.
    Prenat Diagn; 2013 Oct 15; 33(10):1010-2. PubMed ID: 23754335
    [No Abstract] [Full Text] [Related]

  • 15. Concurrent Sturge-Weber syndrome, facial infantile hemangioma, and cutis marmorata telangiectatica congenita.
    Poliak N, Rainey A.
    Cutis; 2017 Oct 15; 100(4):252-254. PubMed ID: 29136059
    [Abstract] [Full Text] [Related]

  • 16. 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 Oct 15; 16(2):117-28. PubMed ID: 16080291
    [Abstract] [Full Text] [Related]

  • 17. 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 15; 145(3):287-93. PubMed ID: 19289759
    [Abstract] [Full Text] [Related]

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

  • 19. A 2-month-old boy with a mottled vascular birthmark.
    Russi DC, Mancini AJ.
    Pediatr Ann; 2007 Mar 15; 36(3):137-9. PubMed ID: 17385578
    [No Abstract] [Full Text] [Related]

  • 20. 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 15; 8(3):. PubMed ID: 35483878
    [Abstract] [Full Text] [Related]

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