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Items: 1 to 20 of 500

1.
Similar splicing mutations of the Menkes/mottled copper-transporting ATPase gene in occipital horn syndrome and the blotchy mouse.
S Das, B Levinson, C Vulpe, S Whitney, J Gitschier, S Packman
Am J Hum Genet. 1995 Mar; 56(3): 570–576.
PMCID:
PMC1801180
SummaryPage BrowsePDF–1.4M
2.
Deep intronic variant causes aberrant splicing of ATP7A in a family with a variable occipital horn syndrome phenotype
J. Robert Harkness, Huw B. Thomas, Jill E. Urquhart, Peter Jamieson, Genomics England Research Consortium, Raymond T. O'Keefe, Helen M. Kingston, Charulata Deshpande, William G. Newman
Eur J Med Genet. 2024 Feb; 67: 104907. doi: 10.1016/j.ejmg.2023.104907
PMCID:
PMC10918460
AbstractArticle
3.
Abdominal aortic aneurysm in a patient with occipital horn syndrome
Elina Quiroga, Rachel Heneghan
J Vasc Surg Cases. 2015 Jun; 1(2): 138–140. Published online 2015 Jun 17. doi: 10.1016/j.jvsc.2015.03.012
PMCID:
PMC6849971
AbstractArticlePDF–471K
4.
Defining the Clinical, Molecular and Ultrastructural Characteristics in Occipital Horn Syndrome: Two New Cases and Review of the Literature
Aude Beyens, Kyaran Van Meensel, Lore Pottie, Riet De Rycke, Michiel De Bruyne, Femke Baeke, Piet Hoebeke, Frank Plasschaert, Bart Loeys, Sofie De Schepper, Sofie Symoens, Bert Callewaert
Genes (Basel) 2019 Jul; 10(7): 528. Published online 2019 Jul 12. doi: 10.3390/genes10070528
PMCID:
PMC6678539
AbstractArticlePDF–3.3M
5.
Occipital horn syndrome and classical Menkes Syndrome caused by deep intronic mutations, leading to the activation of ATP7A pseudo-exon
Saiqa Yasmeen, Katrine Lund, Anne De Paepe, Sylvia De Bie, Arvid Heiberg, João Silva, Márcia Martins, Tina Skjørringe, Lisbeth B Møller
Eur J Hum Genet. 2014 Apr; 22(4): 517–521. Published online 2013 Sep 4. doi: 10.1038/ejhg.2013.191
PMCID:
PMC3953917
AbstractArticlePDF–327K
6.
A novel nonsense ATP7A pathogenic variant in a family exhibiting a variable occipital horn syndrome phenotype
Maria Teresa Bonati, Federico Verde, Uros Hladnik, Paola Cattelan, Luca Campana, Chiara Castronovo, Nicola Ticozzi, Luca Maderna, Claudia Colombrita, Sergio Papa, Paolo Banfi, Vincenzo Silani
Mol Genet Metab Rep. 2017 Dec; 13: 14–17. Published online 2017 Jul 21. doi: 10.1016/j.ymgmr.2017.07.007
PMCID:
PMC5522958
AbstractArticlePDF–406K
7.
Differences in ATP7A gene expression underlie intrafamilial variability in Menkes disease/occipital horn syndrome
Anthony Donsante, Jingrong Tang, Sarah C Godwin, Courtney S Holmes, David S Goldstein, Alexander Bassuk, Stephen G Kaler
J Med Genet. 2007 Aug; 44(8): 492–497. Published online 2007 May 11. doi: 10.1136/jmg.2007.050013
PMCID:
PMC2597922
AbstractArticlePDF–766K
8.
Similar Splice-Site Mutations of the ATP7A Gene Lead to Different Phenotypes: Classical Menkes Disease or Occipital Horn Syndrome
Lisbeth Birk Møller, Zeynep Tümer, Connie Lund, Carsten Petersen, Trevor Cole, Ralf Hanusch, Jürg Seidel, Lars Riff Jensen, Nina Horn
Am J Hum Genet. 2000 Apr; 66(4): 1211–1220. Published online 2000 Mar 17. doi: 10.1086/302857
PMCID:
PMC1288188
AbstractArticlePDF–862K
9.
A Novel Frameshift Mutation in Exon 23 of ATP7A (MNK) Results in Occipital Horn Syndrome and Not in Menkes Disease
Susan L. Dagenais, Ayla N. Adam, Jeffrey W. Innis, Thomas W. Glover
Am J Hum Genet. 2001 Aug; 69(2): 420–427. Published online 2001 Jun 26. doi: 10.1086/321290
PMCID:
PMC1235313
AbstractArticlePDF–328K
10.
Occipital Horn Syndrome as a Result of Splice Site Mutations in ATP7A. No Activity of ATP7A Splice Variants Missing Exon 10 or Exon 15
Lisbeth Birk Møller, Mie Mogensen, David D. Weaver, Per Amstrup Pedersen
Front Mol Neurosci. 2021; 14: 532291. Published online 2021 Apr 21. doi: 10.3389/fnmol.2021.532291
PMCID:
PMC8097048
AbstractArticlePDF–2.1M
11.
Moderating effect of OHS actions based on WHO recommendations to mitigate the effects of COVID-19 in multinational companies
Geraldo Cardoso de Oliveira Neto, Henrricco Nieves Pujol Tucci, Moacir Godinho Filho, Wagner Cezar Lucato, Dirceu da Silva
Process Saf Environ Prot. 2022 Mar; 159: 652–661. Published online 2022 Jan 10. doi: 10.1016/j.psep.2022.01.011
PMCID:
PMC8744406
AbstractArticlePDF–3.0M
12.
Mapping analysis to predict EQ-5D-5 L utility values based on the Oxford Hip Score (OHS) and Oxford Knee Score (OKS) questionnaires in the Spanish population suffering from lower limb osteoarthritis
Jesús Martín-Fernández, Mariel Morey-Montalvo, Nuria Tomás-García, Elena Martín-Ramos, Juan Carlos Muñoz-García, Elena Polentinos-Castro, Gemma Rodríguez-Martínez, Juan Carlos Arenaza, Lidia García-Pérez, Laura Magdalena-Armas, Amaia Bilbao
Health Qual Life Outcomes. 2020; 18: 184. Published online 2020 Jun 15. doi: 10.1186/s12955-020-01435-8
PMCID:
PMC7296624
AbstractArticlePDF–1.2M
13.
A Qualitative Study of HR/OHS Stress Interventions in Australian Universities
Silvia Pignata, Anthony H. Winefield, Carolyn M. Boyd, Chris Provis
Int J Environ Res Public Health. 2018 Jan; 15(1): 103. Published online 2018 Jan 9. doi: 10.3390/ijerph15010103
PMCID:
PMC5800202
AbstractArticlePDF–307K
14.
A Cumulative Risk Perspective for Occupational Health and Safety (OHS) Professionals
Richard Todd Niemeier, Pamela R.D. Williams, Alan Rossner, Jane E. Clougherty, Glenn E. Rice
Int J Environ Res Public Health. 2020 Sep; 17(17): 6342. Published online 2020 Aug 31. doi: 10.3390/ijerph17176342
PMCID:
PMC7503320
AbstractArticlePDF–348K
15.
Floor and ceiling effects in the OHS: an analysis of the NHS PROMs data set
Christopher R Lim, Kristina Harris, Jill Dawson, David J Beard, Ray Fitzpatrick, Andrew J Price
BMJ Open. 2015; 5(7): e007765. Published online 2015 Jul 27. doi: 10.1136/bmjopen-2015-007765
PMCID:
PMC4521553
AbstractArticlePDF–1.7M
16.
Study on the Influence of Government Intervention on the Occupational Health and Safety (OHS) Services of Small- and Medium-Sized Enterprises (SMEs)
Jingjing Zhang, Qiang Mei, Suxia Liu, Qiwei Wang
Biomed Res Int. 2018; 2018: 5014859. Published online 2018 Oct 25. doi: 10.1155/2018/5014859
PMCID:
PMC6222222
AbstractArticlePDF–1.2M
17.
Do health professionals’ attitudes towards alcohol use matter for alcohol prevention efforts? Results from the WIRUS-OHS study
Tore Bonsaksen, Mikkel Magnus Thørrisen, Neda Hashemi, David Gimeno Ruiz de Porras, Randi Wågø Aas
BMC Health Serv Res. 2022; 22: 1004. Published online 2022 Aug 6. doi: 10.1186/s12913-022-08400-9
Correction in:
BMC Health Serv Res. 2022; 22: 1158.
PMCID:
PMC9356481
AbstractArticlePDF–791K
18.
The Safe Use of Pesticides: A Risk Assessment Procedure for the Enhancement of Occupational Health and Safety (OHS) Management
Mario Fargnoli, Mara Lombardi, Daniele Puri, Laura Casorri, Eva Masciarelli, Stefan Mandić-Rajčević, Claudio Colosio
Int J Environ Res Public Health. 2019 Feb; 16(3): 310. Published online 2019 Jan 23. doi: 10.3390/ijerph16030310
PMCID:
PMC6388156
AbstractArticlePDF–1.4M
19.
Working with alcohol prevention in occupational health services: “knowing how” is more important than “knowing that” – the WIRUS OHS study
Mikkel Magnus Thørrisen, Talieh Sadeghi, Tore Bonsaksen, Ian D. Graham, Randi Wågø Aas
Addict Sci Clin Pract. 2022; 17: 54. Published online 2022 Oct 1. doi: 10.1186/s13722-022-00335-0
PMCID:
PMC9526525
AbstractArticlePDF–999K
20.
Current practices and perceived implementation barriers for working with alcohol prevention in occupational health services: the WIRUS OHS study
Mikkel Magnus Thørrisen, Jens Christoffer Skogen, Ingvild Kjeken, Irene Jensen, Randi Wågø Aas
Subst Abuse Treat Prev Policy. 2019; 14: 30. Published online 2019 Jun 26. doi: 10.1186/s13011-019-0217-2
PMCID:
PMC6595559
AbstractArticlePDF–931K

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