Zobrazeno 1 - 10
of 43
pro vyhledávání: '"Dennis A. Stephenson"'
Autor:
Inyoul Lee, Derek Silvius, Christine Ebeling, Sarah LaPierre, Leroy Hood, Sarah R. Anderson, Teresa M. Gunn, George A. Carlson, Dennis A. Stephenson, Kelsey M. Schweitzer, Tara M. Moon, Michael Wegner, David Baxter, Benjamin Jaques
Publikováno v:
Mammalian Genome. 26:80-93
Mice homozygous for the gray tremor (gt) mutation have a pleiotropic phenotype that includes pigmentation defects, megacolon, whole body tremors, sporadic seizures, hypo- and dys-myelination of the central nervous system (CNS) and peripheral nervous
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ad928287653c2f62ce781c9370b87bc
https://doi.org/10.1007/s00335-014-9548-5
https://doi.org/10.1007/s00335-014-9548-5
Publikováno v:
Clinica Chimica Acta. 416:31-35
This study aimed to investigate whether the body mass index (BMI) in combination with genetic variations in APOE and APOA5_'T' alleles modulates the risk of sHTG.There were 255 moderate HTG (TG ≥2.26 and5.65 mmol/L) and 176 sHTG (TG ≥5.65 mmol/L)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fdbd729c2bd57bff1320fdd1c80cb898
https://doi.org/10.1016/j.cca.2012.10.054
https://doi.org/10.1016/j.cca.2012.10.054
Autor:
Emilio Di Maria, Mary B. Davis, Henry Houlden, Mustafa A. Salih, Mary G. Sweeney, Vincent Timmerman, Mary M. Reilly, Francesco Scaravilli, Dennis A. Stephenson, Shu-Fang An, Peter De Jonghe, Michaela Auer-Grumbach, M Groves, Nicholas W. Wood, Ming-Jen Lee
Publikováno v:
Human molecular genetics
A spontaneous autosomal recessive mutation was identified in the Sprague-Dawley rat strain with an early onset sensory neuropathy. The main clinical features of the mutation (mutilated foot, mf ), detectable shortly after birth, include ataxia, insen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5652a0547a0e92dad6542ff57e7aa913
https://doi.org/10.1093/hmg/ddg198
https://doi.org/10.1093/hmg/ddg198
Autor:
Christine Ebeling, Stanley B. Prusiner, Stephen J. DeArmond, Kami E. Chiotti, Dennis A. Stephenson, George A. Carlson, Darlene Groth
Publikováno v:
Genomics. 69:47-53
Although the gene encoding prion protein (PrP) is the major determinant of susceptibility to prion disease, other genes also affect prion incubation time in mice and may be involved in prion replication. Scrapie incubation time was analyzed as a quan
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b349a36fc6af8244a7a47cf1901fc79
https://doi.org/10.1006/geno.2000.6320
https://doi.org/10.1006/geno.2000.6320
Autor:
Dennis A. Stephenson, Andrew J. Copp
Publikováno v:
Genetical Research. 74:93-105
Sponsored by: The Wellcome Trust and B & K Universal Group Limited
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b22b79703dfc9ad02fd7d0a16e09968f
https://doi.org/10.1017/s0016672399003869
https://doi.org/10.1017/s0016672399003869
Publikováno v:
Genetical Research. 72:205-210
The patch (Ph) locus allele, patch-extended (Phe), has significantly less pigmentation than the original mutation and homozygotes have been known to survive to term. Analysing inter- subspecific F1 hybrids, we were able to demonstrate that Phe is a d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da5566675c82b3845ab24ea41ef331c0
https://doi.org/10.1017/s0016672398003425
https://doi.org/10.1017/s0016672398003425
Autor:
Lueders Kk, Dennis A. Stephenson
Publikováno v:
Mammalian Genome. 8:S258-S274
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9b073f7b71a1fa93ab6ec4aaccc773f6
https://doi.org/10.1007/s003359900658
https://doi.org/10.1007/s003359900658
Autor:
Andrew J. Copp, Dennis A. Stephenson
Publikováno v:
Genetical Research. 72:59-72
Sponsored by: The Wellcome Trust, The Genetical Society and B&K Universal Group Limited
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3a105b7a5c5b9260d8384eea4872af9b
https://doi.org/10.1017/s0016672398003309
https://doi.org/10.1017/s0016672398003309
Publikováno v:
Mammalian Genome. 7:145-148
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c6323999d74445ea93ea0ab06b4e590f
https://doi.org/10.1007/s003359900036
https://doi.org/10.1007/s003359900036
Autor:
Dennis A. Stephenson, Edward P. O'Brien, Richard T. Swank, Lijie Zhen, Edward K. Novak, Kenneth F. Manly
Publikováno v:
Mammalian Genome. 6:19-24
The recessive muted (mu) and pearl (pe) mutations on Chromosome (Chr) 13 cause pigment dilution and platelet storage pool deficiency (SPD) in mice. In addition, mu causes inner ear abnormalities and pe has symptoms associated with night blindness. Us
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7102fc9d7384963d7f1c319956d33b10
https://doi.org/10.1007/bf00350888
https://doi.org/10.1007/bf00350888