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The topological viewpoint on spaces of phenotypes presented in Stadler et al. (J Theor Biol 213:241-274, 2001) is revisited, and a quantified version is proposed. While necessary probabilistic information can be encoded in a topological- like fashion, it turns out that it is not reflected adequately by the concept of continuity.
Mynard, Frédéric D. +1 more
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When is a Behavioural Phenotype Not a Phenotype?
Developmental Medicine & Child Neurology, 1994No ...
Einfeld, Stewart L., Hall, Wayne
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Genetically altered mice: phenotypes, no phenotypes, and Faux phenotypes [PDF]
'Phenotype' means different things, but whatever the measure, phenotype can be profoundly influenced by genetic, environmental and infectious variables. The laboratory mouse is a complex multisystemic organism which, despite its genetically inbred nature, as highly variable pathophysiologic characteristics. Mouse strains have background characteristics
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Annals of Otology, Rhinology & Laryngology, 2001
We present a detailed analysis of the DFNA10 phenotype based on data from 25 hearing-impaired persons coming from a large American pedigree segregating for deafness at the DFNA10 locus (chromosome 6q22.3–23.2). Cross-sectional analysis of air conduction threshold—on—age data from all available last-visit audiograms (linear regression analysis, age ...
Leenheer, E. de +4 more
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We present a detailed analysis of the DFNA10 phenotype based on data from 25 hearing-impaired persons coming from a large American pedigree segregating for deafness at the DFNA10 locus (chromosome 6q22.3–23.2). Cross-sectional analysis of air conduction threshold—on—age data from all available last-visit audiograms (linear regression analysis, age ...
Leenheer, E. de +4 more
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Phenotype of the Adulthood [PDF]
Clinical presentation of Klinefelter’s syndrome is highly heterogeneous, explaining why the disease is often undiagnosed. Klinefelter patients have traditionally been described as tall, with gynecomastia, small and firm testicles. Beyond this classical phenotype, less distinct phenotypes have been described with less evident features.
De Vincentis S., Rochira V.
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Broadening the phenotypic spectrum of
AbstractBiallelic mutations in B3GALT6, coding for a galactosyltransferase involved in the synthesis of glycosaminoglycans (GAGs), have been associated with various clinical conditions, causing spondyloepimetaphyseal dysplasia with joint laxity type 1 (SEMDJL1 or SEMDJL Beighton type), Al‐Gazali syndrome (ALGAZ), and a severe progeroid form of Ehlers ...
Chiara Leoni +13 more
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Neurology, 1996
To the Editor: The editorial by Rosenberg [1] is a superb analysis of the current genotype situation in the field of the hereditary ataxias. Rosenberg is quite right in his comments that the genotype has great importance in clarifying the issue of correlation …
S. H. Subramony, Robert D. Currier
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To the Editor: The editorial by Rosenberg [1] is a superb analysis of the current genotype situation in the field of the hereditary ataxias. Rosenberg is quite right in his comments that the genotype has great importance in clarifying the issue of correlation …
S. H. Subramony, Robert D. Currier
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Electrophoresis, 1999
Within the framework of a pilot project on the analysis of the mouse proteome, we investigated C57BL/6 mice (Mus musculus), a standard inbred strain of the mouse, starting with the analysis of brain, liver and heart proteins. Tissue extraction and the separation of proteins were performed with techniques offering a maximum of resolution.
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Within the framework of a pilot project on the analysis of the mouse proteome, we investigated C57BL/6 mice (Mus musculus), a standard inbred strain of the mouse, starting with the analysis of brain, liver and heart proteins. Tissue extraction and the separation of proteins were performed with techniques offering a maximum of resolution.
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Nature Biotechnology, 2015
In the coming years, patient phenotypes captured to enhance health and wellness will extend to human interactions with digital technology.
Sachin H. Jain +5 more
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In the coming years, patient phenotypes captured to enhance health and wellness will extend to human interactions with digital technology.
Sachin H. Jain +5 more
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Cancer and Metastasis Reviews, 1990
The expression of the invasive (I+ or I-) phenotypes determines cancer metastasis (M+ or M- phenotype). The invasive (I+ or I-) phenotypes can be divided according to time and site of expression into subphenotypes, which can be assessed separately. At various sites along the metastatic pathway the expression of the I phenotypes can be accompanied by ...
Marc Mareel +2 more
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The expression of the invasive (I+ or I-) phenotypes determines cancer metastasis (M+ or M- phenotype). The invasive (I+ or I-) phenotypes can be divided according to time and site of expression into subphenotypes, which can be assessed separately. At various sites along the metastatic pathway the expression of the I phenotypes can be accompanied by ...
Marc Mareel +2 more
openaire +3 more sources

