Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Sheila A Youings"'
Publikováno v:
European Journal of Human Genetics. 13:154-160
The details of all cytogenetic abnormalities diagnosed in the Wessex Regional Genetics Laboratory (WRGL) since 1967 to the present day have been recorded in the Salisbury Treasury of Interesting Chromosomes (STOIC). From this resource, we identified
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1e9a50888236ae62d91797640dd9356
https://doi.org/10.1038/sj.ejhg.5201311
https://doi.org/10.1038/sj.ejhg.5201311
Autor:
Emma Weisblatt, Caroline E. Browne, Sally Goodson, Marijcke W. M. Veltman, Vanessa Moore, Josie Brown, Sheila A Youings, N. Simon Thomas, Patrick Bolton, Russell Thompson, Joanne R. Holmes, N R Dennis, Siân E. Roberts
Publikováno v:
Psychiatric Genetics. 14:131-137
Objectives: The frequency of abnormalities of 15q11-q13 and other possibly causal medical disorders including karyotypic abnormalities was investigated in an unselected series of children who were referred to one of two autism assessment centres. Met
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::15239ed62a68b3b2c4285ed6f5f968bb
https://doi.org/10.1097/00041444-200409000-00002
https://doi.org/10.1097/00041444-200409000-00002
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
https://doi.org/10.1038/sj.ejhg.5200504
Autor:
Patricia A. Jacobs, Andrea Sharrock, Nick Dennis, Anna Murray, Catherine Lewis, Sheila A Youings, Michelle C. Pound, Nicky McKechnie, Sarah Ennis
Publikováno v:
Journal of Medical Genetics. 37:415-421
We report the results of a five year survey of FRAXA and FRAXE mutations among boys aged 5 to 18 with special educational needs (SEN) related to learning disability. We tested their mothers using the X chromosome not transmitted to the son as a contr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e5a74c429531c283bc5a6fb45e66c28
https://doi.org/10.1136/jmg.37.6.415
https://doi.org/10.1136/jmg.37.6.415
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
https://doi.org/10.1093/hmg/5.6.727
Publikováno v:
Journal of Medical Genetics. 30:454-459
The fragile X mutation can now be recognised by a variety of molecular techniques. We report a pilot screening survey of a population of children with mental impairment in which we used Southern blotting methods to detect the fragile X mutation, augm
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ea4d86b62e40fe35dbec4bf0cecd49d
https://doi.org/10.1136/jmg.30.6.454
https://doi.org/10.1136/jmg.30.6.454
Publikováno v:
Prenatal Diagnosis. 11:419-425
The uptake of amniocentesis in Wessex for the period 1986–1988 was 36 per cent (2873 of 8004 births), a proportion that has not altered significantly since 1984. There is a large difference in uptake between women in the lower risk age group, 35–
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28727e5f7998139cc4b2486285f64b62
https://doi.org/10.1002/pd.1970110703
https://doi.org/10.1002/pd.1970110703
Publikováno v:
Journal of Medical Genetics. 28:151-155
The parental origin of the single X chromosome in 10 45,X fetuses was studied using DNA restriction fragment length polymorphisms. In six the single X was maternal in origin, in one it was paternal, and in one the results were consistent with a pater
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c91fc7d6fad66fdf16f6f01bc8038ec1
https://doi.org/10.1136/jmg.28.3.151
https://doi.org/10.1136/jmg.28.3.151
Autor:
Sarah Ennis, Marcus Pembrey, Anna Murray, P A Jacobs, Susan M. Ring, G. Brightwell, Newton E. Morton, D Herrick, Sheila A Youings
Publikováno v:
Annals of human genetics. 70(Pt 2)
The FRAXA trinucleotide repeat at Xq27.3 gives rise to fragile X syndrome when fully expanded, and both premature ovarian failure (POF) and fragile X tremor and ataxia syndrome (FXTAS) when in the premutation range. Reports of phenotypic effects exte
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d8d006f7fdde5e65ae8d52d4ac8c335
https://pubmed.ncbi.nlm.nih.gov/16626328
https://pubmed.ncbi.nlm.nih.gov/16626328
Publikováno v:
Human genetics. 118(5)
We have undertaken a clinical study of 26 females with deletions of Xp including five mother–daughter pairs. Cytogenetic and molecular analyses have mapped the breakpoints of the deletions. We determined the parental origin of each abnormality and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a6ae2b9fa8d215b430284fb77b3f8838
https://pubmed.ncbi.nlm.nih.gov/16283387
https://pubmed.ncbi.nlm.nih.gov/16283387