Výsledky vyhledávání - "E C, Jenkins"

An improved method for detecting telomere size differences in T-lymphocyte interphases from older people with Down syndrome with and without mild cognitive impairment

Autor: S. J. Krinsky-McHale, W. B. Zigman, E. C. Jenkins, E. Marchi, L. Ye, Nicole Schupf, Wayne Silverman

Publikováno v: Biology Methods & Protocols

Telomere size (quantified by fluorescence intensity and physical lengths) in short-term T-lymphocyte cultures from adults with Down syndrome (DS) with and without mild cognitive impairment (MCI-DS) or dementia was compared. For these studies, dementi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1093abef60c7255ba6b4ffc6ea255391
https://doi.org/10.1093/biomethods/bpx005

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Tissue differences in fragile X mosaics: Mosaicism in blood cells may differ greatly from skin

Autor: W. Ted Brown, Xiaohua Ding, Ira L. Cohen, Martin G. Bialer, Vicki Sudhalter, Carl Dobkin, E. C. Jenkins, Sarah L. Nolin, Nan Zhong

Publikováno v: American Journal of Medical Genetics. 64:296-301

The fragile X mutation is diagnosed from the structure of the FMR1 gene in blood cell DNA. An estimated 12 to 41% of affected males are mosaics who carry both a "full mutation" allele from which there is no gene expression and a "premutation" allele

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::516db8f81465adc5d39fda0d291ad990
https://doi.org/10.1002/(sici)1096-8628(19960809)64:2<296::aid-ajmg13>3.0.co

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Normal ageing in adults with Down's syndrome: a longitudinal study

Autor: E A Sersen, K. E. Wisniewski, Wayne P. Silverman, E C Jenkins, A. L. Hill, D. A. Devenny

Publikováno v: Journal of Intellectual Disability Research. 40:208-221

The ubiquitous presence of the neuropathology of Alzheimer disease (AD) in individuals with Down's syndrome (DS) over 40 years of age suggests that this group of people will exhibit a high prevalence of dementia of the Alzheimer type (DAT) as they ag

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6fe2033aa0a07701631e73eb885fb4b9
https://doi.org/10.1046/j.1365-2788.1996.761761.x

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Effects of age and communication level on eye contact in fragile X males and non-fragile X autistic males

Autor: Peter M. Vietze, Ira L. Cohen, W. T. Brown, Vicki Sudhalter, E. C. Jenkins

Publikováno v: American Journal of Medical Genetics. 38:498-502

Dyadic social gaze and eye contact were examined in fragile X [fra(X)] males and in non-fra(X) autistic males as a function of age and level of communicative ability. Lag sequential analysis showed that responsive eye contact was highly correlated wi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ae4d337d2c9c7d4c2a0161693b10182
https://doi.org/10.1002/ajmg.1320380271

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Characterization of an analphoid, neocentromere-positive inv dup 8p marker chromosome using multiplex whole chromosome and sub-telomere FISH analyses

Autor: C. J. Duncan, E. C. Jenkins, Marilyn Genovese, S.Sklower Brooks, Milen Velinov, P. Warburton, Hong Gu

Publikováno v: Annales de genetique. 47(2)

A 30-year-old male patient with mild mental retardation was found to have a small supernumerary marker chromosome (SMC) in 90% of his peripheral blood cells and in 100% of his fibroblast cells. Multiplex whole chromosome and sub-telomere FISH analyse

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79466bc2e75a334f8aeaf93561c1f015
https://pubmed.ncbi.nlm.nih.gov/15183754

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