Search Results - "Tengström, Carola"

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  1. 1

    Epilepsy caused by CDKL5 mutations by Castrén, Maija, Gaily, Eija, Tengström, Carola, Lähdetie, Jaana, Archer, Hayley, Ala-Mello, Sirpa

    Published in European journal of paediatric neurology (01-01-2011)
    “…Abstract Mutations in the cyclin-dependent kinase-like 5 gene ( CDKL5 ) have been identified in female patients with early onset epileptic encephalopathy and…”
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    Journal Article
  2. 2

    MECP2 mutation analysis in patients with mental retardation by Ylisaukko-oja, Tero, Rehnström, Karola, Vanhala, Raija, Kempas, Elli, von Koskull, Harriet, Tengström, Carola, Mustonen, Aki, Õunap, Katrin, Lähdetie, Jaana, Järvelä, Irma

    “…Mutations in the methyl‐CpG‐binding protein 2 (MECP2) gene are known to underlie Rett' syndrome, the most common cause of mental retardation (MR) in girls…”
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  3. 3

    Identification of two AGTR2 mutations in male patients with non-syndromic mental retardation by YLISAUKKO-OJA, Tero, REHNSTRÖM, Karola, VANHALA, Raija, TENGSTRÖM, Carola, LÄHDETIE, Jaana, JÄRVELÄ, Irma

    Published in Human genetics (2004)
    “…Mutations in the coding region of the angiotensin II type 2 receptor gene (AGTR2) were recently identified to cause X-linked recessive mental retardation. We…”
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  4. 4

    Clinical features in a de novo interstitial deletion 15q13 to q15 by Autio, S, Pihko, H, Tengström, C

    Published in Clinical genetics (01-11-1988)
    “…A boy with several dysmorphic features and suffering from mental and motor retardation was found to have a de novo interstitial deletion of chromosome 15,…”
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  5. 5

    The genomic structure and developmental expression patterns of the human OPA-containing gene (HOPA) by PHILIBERT, R. A, WINFIELD, S. L, DAMSCHRODER-WILLIAMS, P, TENGSTROM, C, MARTIN, B. M, GINNS, E. I

    Published in Human genetics (01-07-1999)
    “…We determined the genomic organization of the human OPA-containing gene (HOPA) and characterized its developmental expression. The gene encoding HOPA, which…”
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