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pro vyhledávání: '"M. Hever"'
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Autor:
Dirk A Kleinjan, Ruth M Bancewicz, Philippe Gautier, Ralf Dahm, Helia B Schonthaler, Giuseppe Damante, Anne Seawright, Ann M Hever, Patricia L Yeyati, Veronica van Heyningen, Pedro Coutinho
Publikováno v:
PLoS Genetics, Vol 4, Iss 2, p e29 (2008)
Gene duplication is a major driver of evolutionary divergence. In most vertebrates a single PAX6 gene encodes a transcription factor required for eye, brain, olfactory system, and pancreas development. In zebrafish, following a postulated whole-genom
Externí odkaz:
https://doaj.org/article/9a26fc9a624447109c3148e66075d9ac
Autor:
M. Hever, T. Clarke, M. Mellor, J. Grellier, C. O'conner, G. Dodd, Catherine Gamble, R. Chipere, M. Ness
Publikováno v:
Journal of Psychiatric and Mental Health Nursing. 17:79-86
Applying pragmatic risk management procedures to facilitate the sharing of clinical knowledge in and across mental health teams. Abstract Zoning: focused support is pragmatic risk management support procedure that enhances adherence to operational po
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::692dbc4f402e8f309310d0465a3acfba
https://doi.org/10.1111/j.1365-2850.2009.01515.x
https://doi.org/10.1111/j.1365-2850.2009.01515.x
Publikováno v:
Clinical Genetics. 69:459-470
Eye development initiates as an evagination of the early neural plate, before the closure of the neural tube. Structural malformations of the eye such as anophthalmia and microphthalmia arise very early in development. It is not surprising therefore
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2b05aab77f66ed5aa04dcb14472a97ea
https://doi.org/10.1111/j.1399-0004.2006.00619.x
https://doi.org/10.1111/j.1399-0004.2006.00619.x
Autor:
Ann M. Hever, Wee Teik Keng, Freddie H. Sharkey, Joe Rainger, Kathleen A. Williamson, R. Curtis Rogers, Peter D. Turnpenny, Mario Messina, Adele Schneider, David R. FitzPatrick, Alex Magee, J. Fantes, Clare J. Hill, Niolette I. McGill, Zdenek Fiedler, Veronica van Heyningen
Publikováno v:
Human Molecular Genetics. 15:1413-1422
We report heterozygous, loss-of-function SOX2 mutations in three unrelated individuals with Anophthalmia-Esophageal-Genital (AEG) syndrome. One previously reported case [Rogers, R.C. (1988) Unknown cases. Proceedings of the Greenwood Genetic Center.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4032f81979e7dd938ed05ec2f309ffbe
https://doi.org/10.1093/hmg/ddl064
https://doi.org/10.1093/hmg/ddl064
Autor:
Patricia L. Yeyati, Pedro Coutinho, Dirk A. Kleinjan, Ralf Dahm, Ruth M Bancewicz, Anne Seawright, Helia B. Schonthaler, Ann M. Hever, Philippe Gautier, Giuseppe Damante, Veronica van Heyningen
Publikováno v:
PLoS Genetics
Kleinjan, D A, Bancewicz, R M, Gautier, P, Dahm, R, Schonthaler, H B, Damante, G, Seawright, A, Hever, A M, Yeyati, P L, van Heyningen, V & Coutinho, P 2008, ' Subfunctionalization of duplicated zebrafish pax6 genes by cis-regulatory divergence ', PLoS Genetics, vol. 4, no. 2, e29 . https://doi.org/10.1371/journal.pgen.0040029
PLoS Genetics, Vol 4, Iss 2, p e29 (2008)
Kleinjan, D A, Bancewicz, R M, Gautier, P, Dahm, R, Schonthaler, H B, Damante, G, Seawright, A, Hever, A M, Yeyati, P L, van Heyningen, V & Coutinho, P 2008, ' Subfunctionalization of duplicated zebrafish pax6 genes by cis-regulatory divergence ', PLoS Genetics, vol. 4, no. 2, e29 . https://doi.org/10.1371/journal.pgen.0040029
PLoS Genetics, Vol 4, Iss 2, p e29 (2008)
Gene duplication is a major driver of evolutionary divergence. In most vertebrates a single PAX6 gene encodes a transcription factor required for eye, brain, olfactory system, and pancreas development. In zebrafish, following a postulated whole-genom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d59f24b04a12249ca7d5f869077f487
https://pubmed.ncbi.nlm.nih.gov/18282108
https://pubmed.ncbi.nlm.nih.gov/18282108
Publikováno v:
Clinical genetics. 69(6)
Eye development initiates as an evagination of the early neural plate, before the closure of the neural tube. Structural malformations of the eye such as anophthalmia and microphthalmia arise very early in development. It is not surprising therefore
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6687c8f75edfd294d17291ac1d8b25e2
https://pubmed.ncbi.nlm.nih.gov/16712695
https://pubmed.ncbi.nlm.nih.gov/16712695
Autor:
Kathleen A. Williamson, Ann M. Hever, David R. FitzPatrick, Samantha L. Free, Adele Schneider, Veronica van Heyningen, Nicola K. Ragge, Birgit Lorenz, Pamela J. Thompson, Sanjay M. Sisodiya, John M. Stevens, Gianpiero L. Cavalleri
Publikováno v:
Epilepsia. 47(3)
Summary: Purpose: Seizures are noted in a significant proportion of cases of de novo, heterozygous, loss-of-function mutations in SOX2, ascertained because of severe bilateral eye malformations. We wished to determine the underlying cerebral phenotyp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4dba04bdac931b02bda2e500adac6033
https://pubmed.ncbi.nlm.nih.gov/16529618
https://pubmed.ncbi.nlm.nih.gov/16529618
Autor:
Katia Delaval, Robert Feil, Cécile Fournier, Manel Esteller, Yuji Goto, Ann M. Hever, Esteban Ballestar
Publikováno v:
EMBO Journal
EMBO Journal, EMBO Press, 2002, 21 (23), pp.6560--70
EMBO Journal, EMBO Press, 2002, 21 (23), pp.6560--70. ⟨10.1093/emboj/cdf655⟩
EMBO Journal, EMBO Press, 2002, 21 (23), pp.6560--70
EMBO Journal, EMBO Press, 2002, 21 (23), pp.6560--70. ⟨10.1093/emboj/cdf655⟩
In different eukaryotic model systems, chromatin and gene expression are modulated by post-translational modification of histone tails. In this in vivo study, histone methylation and acetylation are investigated along the imprinted mouse genes Snrpn,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d0d0d1cc3d0b5c83cb8a242cecc12c9
https://hal.archives-ouvertes.fr/hal-02197494
https://hal.archives-ouvertes.fr/hal-02197494
Autor:
Kathleen A. Williamson, Ann M. Hever, Joe Rainger, R. Curtis Rogers, Alex Magee, Zdenek Fiedler, Wee Teik Keng, Freddie H. Sharkey, Niolette McGill, Clare J. Hill, Adele Schneider, Mario Messina, Peter D. Turnpenny, Judy A. Fantes, Veronica van Heyningen, David R. FitzPatrick
Publikováno v:
Human Molecular Genetics. 15:2030-2030
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c4b74df7322bf9fc4678481c161bb8c0
https://doi.org/10.1093/hmg/ddl127
https://doi.org/10.1093/hmg/ddl127