Zobrazeno 1 - 10 of 15 pro vyhledávání: '"Peter W. Lunt"'
1
Implementing genetic education in primary care: the Gen-Equip programme
Autor: Vaclava Curtisova, Martina C. Cornel, Leigh Jackson, Daniela Turchetti, Elisa J. F. Houwink, Milan Macek, Heather Skirton, Milena Paneque, Vigdis Stefansdottir, Alastair Kent, Peter W. Lunt
Publikováno v: Journal of Community Genetics, 8(2), 147-150
Paneque, M, Cornel, M C, Curtisova, V, Houwink, E, Jackson, L, Kent, A, Lunt, P, Macek, M, Stefansdottir, V, Turchetti, D & Skirton, H 2017, ' Implementing genetic education in primary care : the Gen-Equip programme ', Journal of Community Genetics, vol. 8, no. 2, pp. 147-150 . https://doi.org/10.1007/s12687-017-0296-6
Journal of Community Genetics, 8(2), 147-150. Springer Verlag
Genetics and genomics are increasingly relevant to primary healthcare but training is unavailable to many practitioners. Education that can be accessed by practitioners without cost or travel is essential. The Gen-Equip project was formed to provide
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::09882d6c5ca6c3764c19ca0020005042
http://hdl.handle.net/1887/115905
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2
A systematic review of interventions to provide genetics education for primary care
Autor: Leigh Jackson, Elisa J. F. Houwink, Peter W. Lunt, Milena Paneque, Daniela Turchetti, Heather Skirton
Publikováno v: BMC FAMILY PRACTICE, 17
BMC Family Practice
Background At least 10 % of patients seen in primary care are said to have a condition in which genetics has an influence. However, patients at risk of genetic disease may not be recognised, while those who seek advice may not be referred or managed
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d1dbe43287844453ac813849450634df
https://doi.org/10.1186/s12875-016-0483-2
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4
Correction: The Gen-Equip Project: evaluation and impact of genetics e-learning resources for primary care in six European languages
Autor: Milan MacekJr, Vaclava Curtisova, Lidewij Henneman, Mariana Campos, Heather Skirton, Martina C. Cornel, Leigh Jackson, Radka Kremlikova Pourova, Lea Godino, Daniela Turchetti, Milena Paneque, Anita O’Connor, Vigdis Stefansdottir, Peter W. Lunt
Publikováno v: Genetics in Medicine
Genetic advances mean patients at risk of genetic conditions can be helped through testing, clinical screening, and preventive treatment, but they must first be identified to benefit. Ensuring quality of genetic care for patients requires genetic exp
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d02634429543e85f37950ed7ad31674
http://europepmc.org/articles/PMC6752262
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5
Genetic analysis of the G4.5 gene in families with suspected Barth syndrome
Autor: Ann M. Cantlay, Peter W. Lunt, Ruth Newbury-Ecob, Kayvan Shokrollahi, John T. Allen, Colin G. Steward
Publikováno v: The Journal of Pediatrics. 135:311-315
Mutations have recently been identified in the G4.5 gene (Xq28), encoding the tafazzin protein, in patients with Barth syndrome. We performed mutational analysis in 5 families with suspected Barth syndrome. In 4 families a male child had all the card
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::256a771b758e8f1369ec1377dc2e46f3
https://doi.org/10.1016/s0022-3476(99)70126-5
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6
Prenatal onset spinal muscular atrophy
Autor: Christopher G. Mathew, I Joanne E Taylor, Peter W. Lunt, Melanie J. MacLeod, Stephanie A. Robb
Publikováno v: European Journal of Paediatric Neurology. 3:65-72
Five patients with severe spinal muscular atrophy (SMA) type I, all of whom presented with reduced fetal movements in utero , severe weakness at birth, and short survival time were assessed to attempt to determine whether their phenotype could be exp
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::78b59b6b88ba956c1924be2e20b6796b
https://doi.org/10.1016/s1090-3798(99)80015-4
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7
Nephrogenic Rests and Renal Abnormalities in Brachmann-De Lange Syndrome
Autor: V. Sams, Adrian Charles, Helen Porter, Peter W. Lunt
Publikováno v: Pediatric Pathology & Laboratory Medicine. 17:209-219
We report renal abnormalities found in four cases of Brachmann-de Lange syndrome (BDLS). In two there were nephrogenic rests and renal cortical cysts, a further case showed cortical cysts, and the fourth had dilated collecting ducts. The literature d
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::bfd171d1971024507eb892052b265a95
https://doi.org/10.1080/15513819709168566
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8
Genotype-phenotype correlation for nucleotide substitutions in the IgII- IgIII linker of FGFR2
Autor: Ethylin Wang Jabs, Michael Oldridge, Peter W. Lunt, Donna M. McDonald-McGinn, Maximilian Muenke, John K. Heath, Andrew O.M. Wilkie, Dominique M. Moloney, George E. Hoganson, Deborah M. Gagnon, Elaine H. Zackai, Timothy D. Howard, Stephen R.F. Twigg
Publikováno v: Human Molecular Genetics. 6:137-143
Dominantly acting, allelic mutations of the fibroblastgrowth factor receptor 2 (FGFR2) gene have beendescribed in five craniosynostosis syndromes. In Apertsyndrome, characterised by syndactyly of the handsand feet, recurrent mutations of a serine-pro
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::efe408be965fa454913754d330168db3
https://doi.org/10.1093/hmg/6.1.137
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9
Epigenetic hypomethylation in FSHD: It's not what you inherit, it's whether it shows
Autor: Peter W. Lunt, Denise A. Figlewicz
Publikováno v: Neurology. 83:674-675
Just as a person's qualifications can provide only a guide to their future job performance in the context of an interview, so with many medical conditions that have a genetic basis: the exact DNA alteration can only be a guide to predicting the sever
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8670a98c5b0d32a7f0a0aba536ed9078
https://doi.org/10.1212/wnl.0000000000000726
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10
Is preterm delivery genetically determined?
Autor: Peter W. Lunt, L. H. Lumey, Hajo I.J. Wildschut
Publikováno v: Paediatric and Perinatal Epidemiology. 5:363-372
Summary. Surprisingly, the genetics of preterm delivery have received very little attention in the literature. Possible explanations are the inability to obtain accurate information on the length of gestation in family studies and the heterogeneous n
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::937b563963679c9e954b3a673cd4512f
https://doi.org/10.1111/j.1365-3016.1991.tb00722.x
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