Zobrazeno 1 - 10 of 38 pro vyhledávání: '"James N. Macpherson"'
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Expansions and contractions of the FMR1 CGG repeat in 5,508 transmissions of normal, intermediate, and premutation alleles
Autor: Emily G. Allen, Stephanie L. Sherman, Gary J. Latham, James N. Macpherson, Andrew Hadd, Nicole Tortora, Carl Dobkin, Anne Glicksman, Angela Maria Vianna-Morgante, Sarah L. Nolin, Montserrat Milà
Publikováno v: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
American Journal of Medical Genetics. Part a
Instability of the FMR1 repeat, commonly observed in transmissions of premutation alleles (55–200 repeats), is influenced by the size of the repeat, its internal structure and the sex of the transmitting parent. We assessed these three factors in u
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c6cdbad2198a99d303a07d500eee858
https://doi.org/10.1002/ajmg.a.61165
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3
Population-based estimates of the prevalence of FMR1 expansion mutations in women with early menopause and primary ovarian insufficiency
Autor: Minouk J. Schoemaker, Sarah Ennis, Anna Murray, Danielle H. Morris, Claire E. Bennett, Anthony J. Swerdlow, Alan Ashworth, Patricia A. Jacobs, Nick Orr, Michael Jones, James N. Macpherson
Publikováno v: Murray, A, Schoemaker, M J, Bennett, C E, Ennis, S, Macpherson, J N, Jones, M, Morris, D H, Orr, N, Ashworth, A, Jacobs, P A & Swerdlow, A J 2014, ' Population-based estimates of the prevalence of FMR1 expansion mutations in women with early menopause and primary ovarian insufficiency ', Genetics in medicine : official journal of the American College of Medical Genetics, vol. 16, no. 1, pp. 19-24 . https://doi.org/10.1038/gim.2013.64
Genetics in Medicine
PURPOSE: Primary ovarian insufficiency before the age of 40 years affects 1% of the female population and is characterized by permanent cessation of menstruation. Genetic causes include FMR1 expansion mutations. Previous studies have estimated mutati
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1105c6e0cbce3d46306c5ea603824e7d
https://doi.org/10.1038/gim.2013.64
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5
New neuropathological findings in Unverricht–Lundborg disease: neuronal intranuclear and cytoplasmic inclusions
Autor: James A. R. Nicoll, Simon Hammans, James N. Macpherson, Nicola R. Cohen
Publikováno v: Acta Neuropathologica. 121:421-427
Unverricht-Lundborg disease (EPM1A), also known as Baltic myoclonus, is the most common form of progressive myoclonic epilepsy. It is inherited as an autosomal recessive trait, due to mutations in the Cystatin-B gene promoter region. Although there i
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4948d1b29983087b55373a0234c36a3c
https://doi.org/10.1007/s00401-010-0738-2
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6
Intermediate sized CGG repeats are not a common cause of idiopathic premature ovarian failure
Autor: Anna Murray, James N. Macpherson, Claire E. Bennett, Gerard S. Conway, Patricia A. Jacobs
Publikováno v: Human Reproduction. 25:1335-1338
Background: it is recognized that FMR1 premutation expansions are associated with premature ovarian failure (POF), but the role of smaller repeats at the boundary of premutation and normal is less clear. Methods: we have therefore investigated the in
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb03d4cbf1613cae2e7d12dd54af2959
https://doi.org/10.1093/humrep/deq058
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7
Stability and haplotype analysis of the FRAXE region
Autor: Anna Murray, Michelle C. Pound, Patricia A. Jacobs, Sarah Ennis, Catherine Lewis, Sheila A Youings, Newton E. Morton, James N. Macpherson, Nick Dennis, Andrea Sharrock
Publikováno v: European Journal of Human Genetics. 8:583-589
FRAXE full mutations are rare and appear to be associated with mild mental retardation. As part of a screening survey of boys with learning difficulties to determine the frequency of full and premutations, we have collected data on the frequency of i
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::07ba363f4a1649bb91f6ac86c0667442
https://doi.org/10.1038/sj.ejhg.5200504
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8
Haplotype and AGG-interspersion analysis ofFMR1 (CGG)n alleles in the Danish population: Implications for multiple mutational pathways towards fragile X alleles
Autor: James N. Macpherson, Judith S.M. Armstrong, Lis Hasholt, Lars Allan Larsen, Jens Vuust, Karen Grønskov, Helle Hjalgrim, Karen Brøndum-Nielsen, Bent Nørgaard-Pedersen
Publikováno v: American Journal of Medical Genetics. 93:99-106
The AGG interspersion pattern and flanking microsatellite markers and their association with instability of the FMR1 (CGG) n repeat, involved in the fragile X syndrome, were analyzed in DNA from filter-paper blood spots randomly collected from the Da
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::ec3d706d4edc37c475f6fff4e78b6d5d
https://doi.org/10.1002/1096-8628(20000717)93:2<99::aid-ajmg4>3.0.co
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10
Population screening at the FRAXA and FRAXE loci: molecular analyses of boys with learning difficulties and their mothers
Autor: Anna Murray, Patricia A. Jacobs, Paul Linehan, Michelle C. Pound, Nick Dennis, James N. Macpherson, Nicky McKechnie, Lorinda Latsky, Sheila A Youings
Publikováno v: Human Molecular Genetics. 5:727-735
Preliminary results on a large population-based molecular survey of FRAXA and FRAXE are reported. All boys with unexplained learning difficulties are eligible for inclusion in the study and data are presented on the first 1013 tested. Individuals wer
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e2fe12335aec7e31365b95f5197f339
https://doi.org/10.1093/hmg/5.6.727
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