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Journal Abstract Search


220 related items for PubMed ID: 17625997

  • 1. Screening of subtle copy number changes in Aicardi syndrome patients with a high resolution X chromosome array-CGH.
    Yilmaz S, Fontaine H, Brochet K, Grégoire MJ, Devignes MD, Schaff JL, Philippe C, Nemos C, McGregor JL, Jonveaux P.
    Eur J Med Genet; 2007; 50(5):386-91. PubMed ID: 17625997
    [Abstract] [Full Text] [Related]

  • 2. Aicardi syndrome in a male patient.
    Anderson S, Menten B, Kogelenberg Mv, Robertson S, Waginger M, Mentzel HJ, Brandl U, Skirl G, Willems P.
    Neuropediatrics; 2009 Feb; 40(1):39-42. PubMed ID: 19639527
    [Abstract] [Full Text] [Related]

  • 3. X chromosome array-CGH for the identification of novel X-linked mental retardation genes.
    Bauters M, Van Esch H, Marynen P, Froyen G.
    Eur J Med Genet; 2005 Feb; 48(3):263-75. PubMed ID: 16179222
    [Abstract] [Full Text] [Related]

  • 4. [Aicardi syndrome].
    Yamawaki M.
    Ryoikibetsu Shokogun Shirizu; 2000 Feb; (30 Pt 5):5-6. PubMed ID: 11057123
    [No Abstract] [Full Text] [Related]

  • 5. Aicardi syndrome choroid plexus cysts.
    Herman TE, Lee BC, Siegel MJ.
    J Perinatol; 2007 May; 27(5):323-4. PubMed ID: 17453044
    [No Abstract] [Full Text] [Related]

  • 6. Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: important role for increased gene dosage of XLMR genes.
    Froyen G, Van Esch H, Bauters M, Hollanders K, Frints SG, Vermeesch JR, Devriendt K, Fryns JP, Marynen P.
    Hum Mutat; 2007 Oct; 28(10):1034-42. PubMed ID: 17546640
    [Abstract] [Full Text] [Related]

  • 7.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 8. [Aicardi syndrome].
    Nakamura M.
    Ryoikibetsu Shokogun Shirizu; 2001 Oct; (33):156-7. PubMed ID: 11462379
    [No Abstract] [Full Text] [Related]

  • 9. Alport syndrome. Molecular genetic aspects.
    Hertz JM.
    Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
    [Abstract] [Full Text] [Related]

  • 10. Agenesis of the corpus callosum and chorioretinal lacunae. Aicardi's syndrome.
    Stănescu-Segall B, Stănescu D.
    Oftalmologia; 1997 Aug; 41(4):323-5. PubMed ID: 9361492
    [Abstract] [Full Text] [Related]

  • 11. Detection of known and novel genomic rearrangements by array based comparative genomic hybridisation: deletion of ZNF533 and duplication of CHARGE syndrome genes.
    Monfort S, Roselló M, Orellana C, Oltra S, Blesa D, Kok K, Ferrer I, Cigudosa JC, Martínez F.
    J Med Genet; 2008 Jul; 45(7):432-7. PubMed ID: 18413373
    [Abstract] [Full Text] [Related]

  • 12. Screening of 20 patients with X-linked mental retardation using chromosome X-specific array-MAPH.
    Kousoulidou L, Parkel S, Zilina O, Palta P, Puusepp H, Remm M, Turner G, Boyle J, van Bokhoven H, de Brouwer A, Van Esch H, Froyen G, Ropers HH, Chelly J, Moraine C, Gecz J, Kurg A, Patsalis PC.
    Eur J Med Genet; 2007 Jul; 50(6):399-410. PubMed ID: 17980689
    [Abstract] [Full Text] [Related]

  • 13.
    ; . PubMed ID:
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  • 14. Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations.
    Parrini E, Ramazzotti A, Dobyns WB, Mei D, Moro F, Veggiotti P, Marini C, Brilstra EH, Dalla Bernardina B, Goodwin L, Bodell A, Jones MC, Nangeroni M, Palmeri S, Said E, Sander JW, Striano P, Takahashi Y, Van Maldergem L, Leonardi G, Wright M, Walsh CA, Guerrini R.
    Brain; 2006 Jul; 129(Pt 7):1892-906. PubMed ID: 16684786
    [Abstract] [Full Text] [Related]

  • 15. [Aicardi syndrome: case report].
    Bastos JA, Borges MA, Albuquerque R, Marchi NS.
    Arq Neuropsiquiatr; 2001 Jun; 59(2-B):457-60. PubMed ID: 11460199
    [Abstract] [Full Text] [Related]

  • 16. [A further case of spasm in flexion syndrome, callosal agenesis and chorioretinal abnormalities (Aicardi syndrome)].
    Gerhard JP, Juif JG, Luckel JC, Mack.
    Bull Soc Ophtalmol Fr; 1973 Feb; 73(2):363-6. PubMed ID: 4794170
    [No Abstract] [Full Text] [Related]

  • 17. Filamin a, periventricular nodular heterotopia, and West syndrome.
    Robertson SP.
    Epilepsia; 2006 Jun; 47(6):1082; author reply 1082-3. PubMed ID: 16822260
    [No Abstract] [Full Text] [Related]

  • 18. Aicardi syndrome associated with anterior cephalocele in a female infant.
    Melbourne-Chambers R, Singh Minott I, Mowatt L, Johnson P, Thame M.
    Dev Med Child Neurol; 2007 Jun; 49(6):464-6. PubMed ID: 17518934
    [Abstract] [Full Text] [Related]

  • 19. High-resolution molecular karyotyping in patients with developmental delay and/or multiple congenital anomalies in a clinical setting.
    Wincent J, Anderlid BM, Lagerberg M, Nordenskjöld M, Schoumans J.
    Clin Genet; 2011 Feb; 79(2):147-57. PubMed ID: 20486943
    [Abstract] [Full Text] [Related]

  • 20. Aicardi syndrome in one dizygotic twin.
    Constad WH, Wagner RS, Caputo AR.
    Pediatrics; 1985 Sep; 76(3):450-3. PubMed ID: 4041031
    [Abstract] [Full Text] [Related]


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