Search Results - "ALMIND, Gitte J"

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    Dominant optic atrophy in Denmark - report of 15 novel mutations in OPA1, using a strategy with a detection rate of 90 by Almind, Gitte J, Ek, Jakob, Rosenberg, Thomas, Eiberg, Hans, Larsen, Michael, Lucamp, Lucamp, Brøndum-Nielsen, Karen, Grønskov, Karen

    Published in BMC genetics (02-08-2012)
    “…Investigation of the OPA1 mutation spectrum in autosomal dominant optic atrophy (ADOA) in Denmark. Index patients from 93 unrelated ADOA families were assessed…”
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    Journal Article
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    Genomic deletions in OPA1 in Danish patients with autosomal dominant optic atrophy by Almind, Gitte J, Grønskov, Karen, Milea, Dan, Larsen, Michael, Brøndum-Nielsen, Karen, Ek, Jakob

    Published in BMC medical genetics (04-04-2011)
    “…Autosomal dominant optic atrophy (ADOA, Kjer disease, MIM #165500) is the most common form of hereditary optic neuropathy. Mutations in OPA1 located at…”
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    Journal Article
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    Is gonadotropin stimulation bad for oocytes? by Lindenberg, Svend, Almind, Gitte J, Lindenberg, Frederikke B

    Published in Current opinion in obstetrics & gynecology (01-06-2018)
    “…Gonadotrophin in IVF increases the number of oocytes retrieved, and many doctors regard a high number of oocytes as a measurement of success in IVF. Thus, the…”
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    Journal Article
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    11p Microdeletion including WT1 but not PAX6, presenting with cataract, mental retardation, genital abnormalities and seizures: a case report by Almind, Gitte J, Brøndum-Nielsen, Karen, Bangsgaard, Regitze, Baekgaard, Peter, Grønskov, Karen

    Published in Molecular cytogenetics (17-02-2009)
    “…WAGR syndrome (Wilms' tumor, aniridia, genitourinary abnormalities and mental retardation) and Potocki-Shaffer syndrome are rare contiguous gene deletion…”
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    Journal Article
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    Genotype–phenotype heterogeneity of ganglion cell and inner plexiform layer deficit in autosomal‐dominant optic atrophy by Rönnbäck, Cecilia, Nissen, Claus, Almind, Gitte J., Grønskov, Karen, Milea, Dan, Larsen, Michael

    Published in Acta ophthalmologica (Oxford, England) (01-12-2015)
    “…Purpose To describe the thickness of the combined ganglion cell and inner plexiform layers (GC‐IPL) and the peripapillary retinal nerve fibre layer (RNFL) in…”
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    Journal Article
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