Search Results - "Tengström, Carola"
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Epilepsy caused by CDKL5 mutations
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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MECP2 mutation analysis in patients with mental retardation
Published in American journal of medical genetics. Part A (15-01-2005)“…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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Identification of two AGTR2 mutations in male patients with non-syndromic mental retardation
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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Clinical features in a de novo interstitial deletion 15q13 to q15
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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The genomic structure and developmental expression patterns of the human OPA-containing gene (HOPA)
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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