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Journal Abstract Search

222 related items for PubMed ID: 27035547

  • 21. Molecular characterization of 13 patients with PIK3CA-related overgrowth spectrum using a targeted deep sequencing approach.
    de Kock L, Cuillerier A, Gillespie M, Couse M, Hartley T, Mears W, Bernier FP, Chudley AE, Frosk P, Nikkel SM, Innes AM, Lauzon J, Thomas M, Guerin A, Armour CM, Weksberg R, Scott JN, Watkins D, Harvey S, Cytrynbaum C, Care4Rare Canada ConsortiumChildren's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada., Kernohan KD, Boycott KM.
    Am J Med Genet A; 2024 Mar; 194(3):e63466. PubMed ID: 37949664
    [Abstract] [Full Text] [Related]

  • 22. Management of Vascular Anomalies and Related Conditions Using Suction-Assisted Tissue Removal.
    Couto JA, Maclellan RA, Greene AK.
    Plast Reconstr Surg; 2015 Oct; 136(4):511e-514e. PubMed ID: 26397270
    [Abstract] [Full Text] [Related]

  • 23. Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome (MCAP): A Rare Dynamic Genetic Disorder.
    Sarma K, Nayak MK, Mishra B, Gaikwad SB.
    Cureus; 2022 May; 14(5):e25123. PubMed ID: 35733479
    [Abstract] [Full Text] [Related]

  • 24. Significant scoliosis regression following syringomyelia decompression: case report.
    Mollano AV, Weinstein SL, Menezes AH.
    Iowa Orthop J; 2005 May; 25():57-9. PubMed ID: 16089074
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  • 25.
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  • 26. [Clinical evaluation on etiology and surgical outcome in syringomyelia associated with Chiari type I malformation].
    Imae S.
    No To Shinkei; 1997 Dec; 49(12):1131-8. PubMed ID: 9453043
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  • 28. Spontaneous Unilateral Chiari I Secondary to Acquired Tonsillar Hypertrophy/Pseudomass With Syringomyelia in a Juvenile With Progressive Scoliosis.
    Morris CA, Forrester DA, Zanabrie R, Puffinbarger W, Borden N.
    J Am Acad Orthop Surg Glob Res Rev; 2023 Aug 01; 7(8):. PubMed ID: 37603712
    [Abstract] [Full Text] [Related]

  • 29. Pathophysiology of syringomyelia associated with Chiari I malformation of the cerebellar tonsils. Implications for diagnosis and treatment.
    Oldfield EH, Muraszko K, Shawker TH, Patronas NJ.
    J Neurosurg; 1994 Jan 01; 80(1):3-15. PubMed ID: 8271018
    [Abstract] [Full Text] [Related]

  • 30. 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 01; 35(3):e186-e188. PubMed ID: 29493003
    [Abstract] [Full Text] [Related]

  • 31. Cerebellar tonsillectomy with suboccipital decompression and duraplasty by small incision for Chiari I malformation (with syringomyelia): long term follow-up of 76 surgically treated cases.
    Ma J, You C, Chen H, Huang S, Ieong C.
    Turk Neurosurg; 2012 May 01; 22(3):274-9. PubMed ID: 22664992
    [Abstract] [Full Text] [Related]

  • 32. MRI findings in macrocephaly-cutis marmorata telangiectatica congenita.
    Carcao M, Blaser SI, Grant RM, Weksberg R, Siegel-Bartelt J.
    Am J Med Genet; 1998 Mar 05; 76(2):165-7. PubMed ID: 9511980
    [Abstract] [Full Text] [Related]

  • 33. Detection of a mosaic PIK3CA mutation in dental DNA from a child with megalencephaly capillary malformation syndrome.
    McDermott JH, Byers H, Clayton-Smith J.
    Clin Dysmorphol; 2016 Jan 05; 25(1):16-8. PubMed ID: 26351730
    [Abstract] [Full Text] [Related]

  • 34. 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 Jan 05; 16(2):117-28. PubMed ID: 16080291
    [Abstract] [Full Text] [Related]

  • 35. Prenatal diagnosis and delivery of megalencephaly-capillary malformation syndrome.
    Porwal M, Anderson D, Razzak AN, Fitzgerald G.
    BMJ Case Rep; 2022 Dec 26; 15(12):. PubMed ID: 36572450
    [Abstract] [Full Text] [Related]

  • 36. A common case with an unusual association: Chiari I malformation with holocord syrinx.
    Bansal S, Borkar SA, Mahapatra AK.
    Asian J Neurosurg; 2017 Dec 26; 12(2):241-243. PubMed ID: 28484540
    [Abstract] [Full Text] [Related]

  • 37. Scoliosis associated with Chiari 1 malformations: the effect of suboccipital decompression on scoliosis curve progression: a preliminary study.
    Brockmeyer D, Gollogly S, Smith JT.
    Spine (Phila Pa 1976); 2003 Nov 15; 28(22):2505-9. PubMed ID: 14624085
    [Abstract] [Full Text] [Related]

  • 38. Neuroimaging findings in macrocephaly-capillary malformation: a longitudinal study of 17 patients.
    Conway RL, Pressman BD, Dobyns WB, Danielpour M, Lee J, Sanchez-Lara PA, Butler MG, Zackai E, Campbell L, Saitta SC, Clericuzio CL, Milunsky JM, Hoyme HE, Shieh J, Moeschler JB, Crandall B, Lauzon JL, Viskochil DH, Harding B, Graham JM.
    Am J Med Genet A; 2007 Dec 15; 143A(24):2981-3008. PubMed ID: 18000912
    [Abstract] [Full Text] [Related]

  • 39. Megalencephaly syndromes and activating mutations in the PI3K-AKT pathway: MPPH and MCAP.
    Mirzaa GM, Rivière JB, Dobyns WB.
    Am J Med Genet C Semin Med Genet; 2013 May 15; 163C(2):122-30. PubMed ID: 23592320
    [Abstract] [Full Text] [Related]

  • 40. Is curve direction correlated with the dominant side of tonsillar ectopia and side of syrinx deviation in patients with single thoracic scoliosis secondary to Chiari malformation and syringomyelia?
    Zhu Z, Wu T, Sha S, Sun X, Zhu F, Qian B, Qiu Y.
    Spine (Phila Pa 1976); 2013 Apr 15; 38(8):671-7. PubMed ID: 23104195
    [Abstract] [Full Text] [Related]

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