Search Results - "Ressler, Bernadette"

Characterization of breakpoint sequences of five rearrangements inL1CAM andABCD1 (ALD) genes by Kutsche, Kerstin, Ressler, Bernadette, Katzera, Heide-Gertrude, Orth, Ulrike, Gillessen-Kaesbach, Gabriele, Morlot, Susanne, Schwinger, Eberhard, Gal, Andreas

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Characterization of breakpoint sequences of five rearrangements in L1CAM and ABCD1 (ALD) genes by Kutsche, Kerstin, Ressler, Bernadette, Katzera, Heide-Gertrude, Orth, Ulrike, Gillessen-Kaesbach, Gabriele, Morlot, Susanne, Schwinger, Eberhard, Gal, Andreas

“…Mutations in L1CAM are responsible for X‐linked hydrocephalus, whereas those in the ALD gene (ABCD1) cause adrenoleukodystrophy. In both genes, most of the…”
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Intronic mutations in the L1CAM gene may cause X-linked hydrocephalus by aberrant splicing by Hübner, Christian A., Utermann, Barbara, Tinschert, Sigrid, Krüger, Gabriele, Ressler, Bernadette, Steglich, Cordula, Schinzel, Albert, Gal, Andreas

“…L1 disease is a clinically heterogeneous X‐chromosomal neurodevelopmental disorder that is frequently associated with mental retardation and congenital…”
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Intronic mutations in the L1CAM gene may cause X-linked hydrocephalus by aberrant splicing: MUTATIONS IN BRIEF by Hübner, Christian A., Utermann, Barbara, Tinschert, Sigrid, Krüger, Gabriele, Ressler, Bernadette, Steglich, Cordula, Schinzel, Albert, Gal, Andreas

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Immunocytochemical studies on the vimentin distribution and cell proliferation of fibroblasts in patients with Friedreich's ataxia by Willers, I, Ressler, B, Singh, S, Koeppen, A H

“…Fibroblasts obtained from patients with Friedreich's ataxia and normal control subjects were studied by immunocytochemistry for intermediate filament vimentin…”
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Spectrum and detection rate of L1CAM mutations in isolated and familial cases with clinically suspected L1-disease by Finckh, Ulrich, Schröder, Jutta, Ressler, Bernadette, Veske, Andres, Gal, Andreas

“…Mutations in L1CAM, the gene encoding the L1 neuronal cell adhesion molecule, lead to an X‐linked trait characterized by one or more of the symptoms of…”
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Spectrum and detection rate ofL1CAM mutations in isolated and familial cases with clinically suspected L1-disease by Finckh, Ulrich, Schr der, Jutta, Ressler, Bernadette, Veske, Andres, Gal, Andreas

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