Search Results - "Telenius, Hakan"

Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A by Mulligan, Lois M, Kwok, John B. J, Healey, Catherine S, Elsdon, Mark J, Eng, Charis, Gardner, Emily, Love, Donald R, Mole, Sara E, Moore, Julie K, Papi, Laura, Ponder, Margaret A, Telenius, Hakan, Tunnacliffe, Alan, Ponder, Bruce A. J

“…Multiple endocrine neoplasia type 2A (MEN 2A) is a dominantly inherited cancer syndrome that affects tissues derived from neural ectoderm. It is characterized…”
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A Worldwide Study of the Huntington's Disease Mutation: The Sensitivity and Specificity of Measuring CAG Repeats by Kremer, Berry, Goldberg, Paul, Andrew, Susan E, Theilmann, Jane, Telenius, Hakan, Zeisler, Jutta, Squitieri, Ferdinando, Lin, Biaoyang, Bassett, Ann, Almqvist, Elizabeth, Bird, Thomas D, Hayden, Michael R

“…Huntington's disease usually presents in adult life with mood and personality changes, clumsiness, and chorea. The disease is inexorably progressive, with…”
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The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease by Andrew, Susan E, Paul Goldberg, Y, Kremer, Berry, Telenius, Håkan, Theilmann, Jane, Adam, Shelin, Starr, Elizabeth, Squitieri, Ferdinando, Lin, Biaoyang, Kalchman, Michael A, Graham, Rona K, Hayden, Michael R

“…Huntington's disease (HD) is associated with the expansion of a CAG trinucleotide repeat in a novel gene. We have assessed 360 HD individuals from 259…”
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Molecular analysis of new mutations for Huntington's disease: intermediate alleles and sex of origin effects by Goldberg, Y. Paul, Kremer, Berry, Andrew, Susan E, Theilmann, Jane, Graham, Rona K, Squitieri, Ferdinando, Telenius, Håkan, Adam, Shelin, Sajoo, Anaar, Starr, Elizabeth, Heiberg, Arvid, Wolff, Gerhard, Hayden, Michael R

“…Huntington's disease (HD) is associated with expansion of a CAG repeat in a novel gene. We have assessed 21 sporadic cases of HD to investigate sequential…”
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Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm by Telenius, Håkan, Kremer, Berry, Goldberg, Y. Paul, Theilmann, Jane, Andrew, Susan E, Zeisler, Jutta, Adam, Shelin, Greenberg, Cheryl, Ives, Elizabeth J, Clarke, Lorne A, Hayden, Michael R

“…Huntington disease is associated with an unstable and expanded (CAG) trinucleotide repeat. We have analysed the CAG expansion in different tissues from 12…”
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Cytogenetic analysis by chromosome painting using DOP-PCR amplified flow-sorted chromosomes by Telenius, H, Pelmear, A H, Tunnacliffe, A, Carter, N P, Behmel, A, Ferguson-Smith, M A, Nordenskjöld, M, Pfragner, R, Ponder, B A

“…A novel polymerase chain reaction (PCR) technique has been combined with chromosome flow sorting to characterise two lymphoblastoid cell lines and one…”
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Stability of a functional murine satellite DNA-based artificial chromosome across mammalian species by Telenius, H, Szeles, A, Keresö, J, Csonka, E, Praznovszky, T, Imreh, S, Maxwell, A, Perez, C F, Drayer, J I, Hadlaczky, G

“…A 60-Mb murine chromosome consisting of murine pericentric satellite DNA and two bands of integrated marker and reporter genes has been generated de novo in a…”
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Chromosome 2-specific DNA clones from flow-sorted chromosomes of tomato by Arumuganathan, K, Martin, G B, Telenius, H, Tanksley, S D, Earle, E D

“…We obtained DNA clones specific to tomato chromosome 2 from a small number of chromosomes collected by flow sorting. Suspensions of metaphase chromosomes were…”
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Degenerate oligonucleotide-primed PCR: general amplification of target DNA by a single degenerate primer by Telenius, H, Carter, N P, Bebb, C E, Nordenskjöld, M, Ponder, B A, Tunnacliffe, A

“…A version of the polymerase chain reaction (PCR), termed degenerate oligonucleotide-primed PCR (DOP-PCR), which employs oligonucleotides of partially…”
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The molecular genetics of Huntington's disease by Goldberg, Y P, Telenius, H, Hayden, M R

“…The past year has witnessed outstanding developments in research on Huntington's disease (HD). A gene was identified that contains an expanded CAG…”
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A worldwide study of the Huntington's disease mutation by Kremer, Berry, Goldberg, Paul, Andrew, Susan E, Theilmann, Jane, Telenius, Hakan, Zeisler, Jutta, Squitieri, Ferdinando, Lin, Biaoyang, Bassett, Ann, Almqvist, Elizabeth, Bird, Thomas D, Hayden, Michael R

“…Background Huntington's disease is associated with an expanded sequence of CAG repeats in a gene on chromosome 4p16.3. However, neither the sensitivity of…”
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Increased instability of intermediate alleles in families with sporadic Huntington disease compared to similar sized intermediate alleles in the general population by Goldberg, Y P, McMurray, C T, Zeisler, J, Almqvist, E, Sillence, D, Richards, F, Gacy, A M, Buchanan, J, Telenius, H, Hayden, M R

“…We have directly compared intergenerational stability of intermediate alleles (IAs) derived from new mutation families (IANM) for Huntington disease (HD) with…”
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Huntington disease without CAG expansion : phenocopies or errors in assignment ? by ANDREW, S. E, GOLDBERG, Y. P, LUCOTTE, G, STOESSL, A. J, CAMPANELLA, G, HAYDEN, M. R, KREMER, B, SQUITIERI, F, THEILMANN, J, ZEISLER, J, TELENIUS, H, ADAM, S, ALMQUIST, E, ANVRET, M

“…Huntington disease (HD) has been shown to be associated with an expanded CAG repeat within a novel gene on 4p16.3 (IT15). A total of 30 of 1,022 affected…”
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Tetrasomy 15q: two marker chromosomes with no detectable alpha-satellite DNA by BLENNOW, E, TELENIUS, H, DE VOS, D, LARSSON, C, HENRIKSSON, P, JOHANSSON, Ö, CARTER, N. P, NORDENSKJÖLD, M

“…Two patients with specific and similar phenotypes were both found to have an unusual marker chromosome present in 70%-80% of their lymphocytes at routine…”
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Genetic linkage studies map the multiple endocrine neoplasia type 2 loci to a small interval on chromosome 10q11.2 by Gardner, E, Papi, L, Easton, D F, Cummings, T, Jackson, C E, Kaplan, M, Love, D R, Mole, S E, Moore, J K, Mulligan, L M

“…We have carried out genetic linkage analyses using fifteen polymorphic loci in the pericentromeric region of chromosome 10 in families with the inherited…”
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Minisatellite DNA profiles: rapid sample identification in linkage analysis by Telenius, H, Clark, J, Marcus, E, Royle, N, Jeffreys, A J, Ponder, B A, Mathew, C G

“…Locus-specific minisatellite probes detect multiple alleles with heterozygosities of greater than 90% when hybridised to HinfI and AluI restriction digests of…”
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Complete characterization of a large marker chromosome by reverse and forward chromosome painting by BLENNOW, E, TELENIUS, H, LARSSON, C, DE VOS, D, BAJALICA, S, PONDER, B. A. J, NORDENSKJÖLD, M

“…Marker chromosome are small supernumerary chromosomes that are sometimes associated with developmental abnormalities. Hence, the genes involved in such cases…”
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Complementary physical and genetic techniques map the vinculin (VCL) gene on chromosome 10q by Mulligan, L M, Gardner, E, Telenius, H, Ponder, B A

“…Vinculin is a cytoskeletal protein component of adherens type cell junctions. The gene had been mapped to 10q11.2-qter. We have used a combination of physical…”
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Mammalian artificial chromosome pilot production facility: Large‐scale isolation of functional satellite DNA‐based artificial chromosomes by deJong, Gary, Telenius, Adèle H., Telenius, Håkan, Perez, Carl F., Drayer, Jan I., Hadlaczky, Gyula

“…Background: A pilot production facility has been established to isolate mammalian artificial chromosomes at high purity by using flow cytometric techniques…”
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Fifty probands with extra structurally abnormal chromosomes characterized by fluorescence in situ hybridization by Blennow, E, Nielsen, K B, Telenius, H, Carter, N P, Kristoffersson, U, Holmberg, E, Gillberg, C, Nordenskjöld, M

“…Extra structurally abnormal chromosomes (ESACs) are small supernumerary chromosomes often associated with developmental abnormalities and malformations. We…”
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