Search Results - "Hoth, Christopher F"

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  1. 1
    An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome

    An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome by Baldwin, Clinton T, Hoth, Christopher F, Amos, Jean A, da-Silva, Elias O, Milunsky, Aubrey

    Published in Nature (London) (13-02-1992)
    “…Here we report the identification and characterization of a gene defect causing Waardenburg's syndrome with hearing loss in a large Brazilian family. This…”
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  2. 2
    Cloning, expression and pharmacological characterization of rabbit adenosine A1 and A3 receptors

    Cloning, expression and pharmacological characterization of rabbit adenosine A1 and A3 receptors by Hill, R J, Oleynek, J J, Hoth, C F, Kiron, M A, Weng, W, Wester, R T, Tracey, W R, Knight, D R, Buchholz, R A, Kennedy, S P

    “…The role of adenosine A1 and A3 receptors in mediating cardioprotection has been studied predominantly in rabbits, yet the pharmacological characteristics of…”
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  3. 3
    Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I)

    Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I) by Hoth, C F, Milunsky, A, Lipsky, N, Sheffer, R, Clarren, S K, Baldwin, C T

    Published in American journal of human genetics (01-03-1993)
    “…Waardenburg syndrome type I (WS-I) is an autosomal dominant disorder characterized by sensorineural hearing loss, dystopia canthorum, pigmentary disturbances,…”
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  4. 4
    Expression of the Rat Adrenomedullin Receptor or a Putative Human Adrenomedullin Receptor Does Not Correlate with Adrenomedullin Binding or Functional Response

    Expression of the Rat Adrenomedullin Receptor or a Putative Human Adrenomedullin Receptor Does Not Correlate with Adrenomedullin Binding or Functional Response by Kennedy, Scott P., Sun, Dexue, Oleynek, Joseph J., Hoth, Christopher F., Kong, Jimmy, Hill, Roger J.

    “…There has been considerable difficulty in defining distinct adrenomedullin (AM) binding sites and functionin vivo.However, a rat adrenomedullin receptor (rAMR)…”
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  5. 5
    Mutations in PAX3 associated with Waardenburg syndrome type I

    Mutations in PAX3 associated with Waardenburg syndrome type I by Baldwin, C T, Lipsky, N R, Hoth, C F, Cohen, T, Mamuya, W, Milunsky, A

    Published in Human mutation (1994)
    “…Waardenburg syndrome (WS) types I, II, and III (McKusick #14882, #19351, and #19350) are related autosomal dominant disorders characterized by sensorineural…”
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  6. 6
    Mutations in PAX3 that cause Waardenburg syndrome type I: ten new mutations and review of the literature

    Mutations in PAX3 that cause Waardenburg syndrome type I: ten new mutations and review of the literature by Baldwin, C T, Hoth, C F, Macina, R A, Milunsky, A

    Published in American journal of medical genetics (28-08-1995)
    “…Waardenburg syndrome (WS) is an autosomal-dominant disorder characterized by sensorineural hearing loss, dystopia canthorum, and pigmentary disturbances, and…”
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