Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Annie M. Procter"'
Autor:
Annie M. Procter, Vani Jain
Publikováno v:
eLS
It is generally well recognised and accepted that opportunities exist to test individuals for genetic disorders; however, the application of such genetic testing during childhood is subject to controversy and debate. The views of the child, parent an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0f5067dd359b9931e3f44e70360b2b69
https://doi.org/10.1002/9780470015902.a0005620.pub2
https://doi.org/10.1002/9780470015902.a0005620.pub2
Autor:
Carol A. Giblin, Dian Donnai, Emma Burkitt Wright, Graeme C.M. Black, Peter E. Clayton, Catherine M. Hall, Teresa Costa, Rahat Perveen, Annie M. Procter
Publikováno v:
Clinical Dysmorphology. 18:218-221
Isolated growth hormone (GH) deficiency (IGHD) resulting in short stature has an estimated birth incidence of 1 out of 4000-10000 (Millar et al., 2003) and is usually sporadic, but monogenic forms are known. Involvement of a number of autosomal genes
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ddd10fd25a1b1effba9a2b6f819bcf7
https://doi.org/10.1097/mcd.0b013e32832d06f0
https://doi.org/10.1097/mcd.0b013e32832d06f0
Publikováno v:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. :200-206
Quality improvement in specialist services such as clinical genetics is challenging largely due to the complexity of the service and the difficulty in obtaining accurate, reproducible, and measurable data. The objectives were to evaluate the pattern
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9fa0a301b61e366221a249fdd3a9febd
https://doi.org/10.1002/ajmg.c.30223
https://doi.org/10.1002/ajmg.c.30223
Publikováno v:
Hormone Research in Paediatrics. 70:202-223
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f51a17fa60e1caf63c707599f70aa80f
https://doi.org/10.1159/000157533
https://doi.org/10.1159/000157533
Autor:
T Easter, M. D. Lewis, Juan Pedro López-Siguero, David Neil Cooper, David Stuart Millar, Nieves Díaz-Torrado, Annie M. Procter, Linda Fryklund, John Gregory, Luis Fernando López-Canti, Rafael Espino, Cristóbal-Jorge Del Valle, Vicky Newsway, Maurice F. Scanlon, Martin Horan, Ramón Cañete, Martin Norin, Angels Ulied
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 89:1068-1075
The pituitary-expressed GH1 gene was screened for mutation in a group of 74 children with familial short stature. Two novel mutations were identified: an Ile179Met substitution and a −360A→G promoter variant. The Ile179Met variant was shown to ex
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::508bfa8233face2a1a5189fdf12a8091
https://doi.org/10.1210/jc.2003-030652
https://doi.org/10.1210/jc.2003-030652
Autor:
Annie M Procter
Publikováno v:
European Journal of Human Genetics. 24:623-624
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::effd0769633284692cbfda9894ca8212
https://doi.org/10.1038/ejhg.2015.152
https://doi.org/10.1038/ejhg.2015.152
Autor:
Michael Krawczak, Martin Horan, T Easter, Elizabeth Crowne, John Gregory, John A. Phillips, Phillip Edwards, Linda Fryklund, David Neil Cooper, Victoria Elizabeth Newsway, Annie M. Procter, Sally J. Davies, M. D. Lewis, Martin Norin, Kim Waldron, Jeremy Kirk, Patricia J. Smith, David Stuart Millar, Maurice F. Scanlon
Publikováno v:
Human Mutation. 21:424-440
Subtle mutations in the growth hormone 1 (GH1) gene have been regarded as a comparatively rare cause of short stature. Such lesions were sought in a group of 41 individuals selected for short stature, reduced height velocity, and bone age delay; a gr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d677d1369fd8e9b74b79c79579b7548
https://doi.org/10.1002/humu.10168
https://doi.org/10.1002/humu.10168
Autor:
Annie M. Procter
Publikováno v:
Current Paediatrics. 12:453-457
The ethics of genetic testing relate in particular to the need to obtain a balance between the possible benefits conferred on and the potential harm done to an individual and their family as a consequence of both the process and the results obtained
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c04339d9dad3a4031ed87ed5f45618c9
https://doi.org/10.1054/cupe.2002.0341
https://doi.org/10.1054/cupe.2002.0341
Publikováno v:
Heart. 101:A37.1-A37
International guidelines suggest that a significant majority of patients with Hypertrophic Cardiomopathy (HCM), Long QT syndrome (LQTS) and Catecholaminergic Polymorphic Centricular Tachycardiac (CPVT) will be found to have a disease causing mutation
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::916799733c18ea72a8aad727c60ae93d
https://doi.org/10.1136/heartjnl-2015-308066.68
https://doi.org/10.1136/heartjnl-2015-308066.68
Autor:
Annie M. Procter
Publikováno v:
eLS
It is generally well recognized and accepted that opportunities exist to test individuals for genetic disorders; however, the application of such genetic testing during childhood is subject to controversy and debate. Keywords: genetic testing; childh
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::57df02f0964b3951915ab7dc6df312cb
https://doi.org/10.1002/9780470015902.a0005620
https://doi.org/10.1002/9780470015902.a0005620