Výsledky vyhledávání

Two new cases of the Christchurch (Ch1) chromosome 21: evidence for clinical consequences of de novo deletion 21P

Autor: S G, Vorsanova, Yu B, Yurov, D, Brusquant, E, Carles, G, Roizes

Publikováno v: TSitologiia i genetika. 36(1)

We performed an investigation of two unrelated cases with extremal variants of chromosome 21 without visible materials of the short arms (Christchurch or Ch1 chromosome). In the first case chromosome 21p- was initially detected during routine cytogen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::4467b06b113dc485e86a1f696303cc40
https://pubmed.ncbi.nlm.nih.gov/12012596

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Structure and function of alleles in the 3' end region of human apoB gene

Autor: B, Chen, Z, Guo, P, He, P, Ye, C, Buresi, G, Roizes

Publikováno v: Chinese medical journal. 112(3)

To study the structure of alleles in the 3' end of the apoB gene in Han, Mongolian and Tibetan populations in China as well as the roles in the regulation of gene expression.DNA were obtained from human leukocytes by phenol-chloroform extraction and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::e2e7792c266da504466e480af5e60a93
https://pubmed.ncbi.nlm.nih.gov/11593553

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Analysis of alphoid DNA variation and kinetochore size in human chromosome 21: evidence against pathological significance of alphoid satellite DNA diminutions

Autor: B, Marzais, S G, Vorsanova, G, Roizes, Y B, Yurov

Publikováno v: TSitologiia i genetika. 33(1)

Centromeric alpha satellite DNA sequences are linked to the kinetochore CENP-B proteins and therefore may be involved in the centromeric function. The high heterogeneity of size of the alphoid blocks raises the question of whether small amount of alp

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::b7e609a97c09cef7c2df7807fdcfbd68
https://pubmed.ncbi.nlm.nih.gov/10330695

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[Study of alpha-satellite DNA in cosmid libraries, specific for chromosomes 13, 21, and 22, using fluorescence in situ hybridization]

Autor: I V, Solov'ev, Iu B, Iurov, S G, Vorsanova, B, Marcais, E I, Rogaev, B I, Kapanadze, V M, Brodianskiĭ, N K, Iankovskiĭ, G, Roizes

Publikováno v: Genetika. 34(11)

Fluorescent in situ hybridization (FISH) was employed in mapping the alpha-satellite DNA that was revealed in the cosmid libraries specific for human chromosomes 13, 21, and 22. In total, 131 clones were revealed. They contained various elements of c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::a56c386a309ab405c27604f942289fa8
https://pubmed.ncbi.nlm.nih.gov/10096024

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Polymorphism at VNTR locus 3 to the apolipoprotein B gene in a Tunisian population: difference from other ethnic groups

Autor: C, Buresi, E, Desmarais, S, Vigneron, C, Ben Rayana, H, Chaabouni, G, Roizes

Publikováno v: Genetic epidemiology. 12(4)

The Hypervariable region (HVR) detected at the 3' end of the apolipoprotein B (Apo B) locus has been the subject of numerous studies. As for many VNTR (variable number of tandem repeat), this locus is highly polymorphic and until now about 20 alleles

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::f136d2cdc664ba324bb69c29f00f7162
https://pubmed.ncbi.nlm.nih.gov/8536955

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Construction of a new yeast artificial chromosome vector containing T3, T7 promoters and NotI sites

Autor: J P, Charlieu, G, Roizes, B, Marcais, M, Bellis

Publikováno v: BioTechniques. 10(3)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::7e2953031d6da8725ad5b0c6800ae328
https://pubmed.ncbi.nlm.nih.gov/2064768

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[Study of growth hormone gene in non-familial complete somatotropin deficiency]

Autor: R, Ruiz-Pacheco, J M, Lobaccaro, G, Roizes, C, Sultan

Publikováno v: Comptes rendus des seances de la Societe de biologie et de ses filiales. 184(1)

Familial growth hormone deficiency has been often associated to homozygous gene deletions. In this work we have looked for the possible absence of this gene in patients with isolated GH deficiency. The patient genomic DNAs have been digested with two

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::b8e7034ea4ff4a572da38269726b0969
https://pubmed.ncbi.nlm.nih.gov/2150784

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