The known burden of Huntington disease in the North of Scotland: prevalence of manifest and identified pre-symptomatic gene expansion carriers in the molecular era

por Kounidas, Georgios, Cruickshank, Heather, Kastora, Stavroula, Sihlabela, Stella, Miedzybrodzka, Zosia
Publicado 2021

Is There Evidence for Aetiologically Distinct Subgroups of Idiopathic Congenital Talipes Equinovarus? A Case-Only Study and Pedigree Analysis

por Cardy, Amanda H., Sharp, Linda, Torrance, Nicola, Hennekam, Raoul C., Miedzybrodzka, Zosia
Publicado 2011

Young-onset colorectal cancer in the North East of Scotland: survival, clinico-pathological features and genetics

por Perrott, Sarah, Laurie, Kirsten, Laws, Kirsten, Johnes, Annie, Miedzybrodzka, Zosia, Samuel, Leslie
Publicado 2020

Full UPF3B function is critical for neuronal differentiation of neural stem cells

por Alrahbeni, Tahani, Sartor, Francesca, Anderson, Jihan, Miedzybrodzka, Zosia, McCaig, Colin, Müller, Berndt
Publicado 2015

VIKING II, a worldwide observational cohort of volunteers with northern isles ancestry

por Kerr, Shona M., Edwards, Rachel, Buchanan, David, Dean, John, Miedzybrodzka, Zosia, Wilson, James F.
Publicado 2023

Creation and Worldwide Utilisation of New COVID-19 Online Information Hub for Genetics Health Professionals, Patients and Families

por Tobias, Adam P., Berg, Jonathan, Cetnarskyj, Roseanne, Miedzybrodzka, Zosia, Porteous, Mary E., Tobias, Edward S.
Publicado 2021

Variation in WNT7A is unlikely to be a cause of familial Congenital Talipes Equinovarus

por Liu, Guoqing, Inglis, Julie, Cardy, Amanda, Shaw, Duncan, Sahota, Sukhy, Hennekam, Raoul, Sharp, Linda, Miedzybrodzka, Zosia
Publicado 2008

Parents’ views of genetic testing and treatment of familial hypercholesterolemia in children: a qualitative study

por Keenan, Karen Forrest, Finnie, Robert M., Simpson, William G., McKee, Lorna, Dean, John, Miedzybrodzka, Zosia
Publicado 2018

Analysis of the Clinical Advancements for BRCA-Related Malignancies Highlights the Lack of Treatment Evidence for BRCA-Positive Male Breast Cancer

por McClurg, Dylan P., Urquhart, Gordan, McGoldrick, Trevor, Chatterji, Subarnarekha, Miedzybrodzka, Zosia, Speirs, Valerie, Elsberger, Beatrix
Publicado 2022

Micro-magnetic resonance imaging and embryological analysis of wild-type and pma mutant mice with clubfoot

por Duce, Suzanne, Madrigal, Londale, Schmidt, Katy, Cunningham, Craig, Liu, Guoqing, Barker, Simon, Tennant, Gordon, Tickle, Cheryll, Chudek, Sandy, Miedzybrodzka, Zosia
Publicado 2010

3D MRI Analysis of the Lower Legs of Treated Idiopathic Congenital Talipes Equinovarus (Clubfoot)

por Duce, Suzanne L., D’Alessandro, Mariella, Du, Yimeng, Jagpal, Baljit, Gilbert, Fiona J., Crichton, Lena, Barker, Simon, Collinson, J. Martin, Miedzybrodzka, Zosia
Publicado 2013

Epidermal Growth Factor (EGFR) copy number aberrations in esophageal and gastro-esophageal junctional carcinoma

por Dahle-Smith, Åsa, Stevenson, David, Massie, Doreen, Murray, Graeme I., Dutton, Susan J., Roberts, Corran, Ferry, David, Osborne, Aileen, Clark, Caroline, Petty, Russell D., Miedzybrodzka, Zosia
Publicado 2015

Feasibility study to assess the impact of a lifestyle intervention (‘LivingWELL’) in people having an assessment of their family history of colorectal or breast cancer

por Anderson, Annie S, Dunlop, Jacqueline, Gallant, Stephanie, Macleod, Maureen, Miedzybrodzka, Zosia, Mutrie, Nanette, O’Carroll, Ronan E, Stead, Martine, Steele, Robert J C, Taylor, Rod S, Vinnicombe, Sarah, Berg, Jonathan
Publicado 2018

Clinical case study meets population cohort: identification of a BRCA1 pathogenic founder variant in Orcadians

por Kerr, Shona M., Cowan, Emma, Klaric, Lucija, Bell, Christine, O’Sullivan, Dawn, Buchanan, David, Grzymski, Joseph J., van Hout, Cristopher V., Tzoneva, Gannie, Shuldiner, Alan R., Wilson, James F., Miedzybrodzka, Zosia
Publicado 2023

Continuing the sequence? Towards an economic evaluation of whole genome sequencing for the diagnosis of rare diseases in Scotland

por Abbott, Michael, McKenzie, Lynda, Moran, Blanca Viridiana Guizar, Heidenreich, Sebastian, Hernández, Rodolfo, Hocking-Mennie, Lynne, Clark, Caroline, Gomes, Joana, Lampe, Anne, Baty, David, McGowan, Ruth, Miedzybrodzka, Zosia, Ryan, Mandy
Publicado 2021

The Angelina Jolie effect: how high celebrity profile can have a major impact on provision of cancer related services

por Evans, D Gareth R, Barwell, Julian, Eccles, Diana M, Collins, Amanda, Izatt, Louise, Jacobs, Chris, Donaldson, Alan, Brady, Angela F, Cuthbert, Andrew, Harrison, Rachel, Thomas, Sue, Howell, Anthony, Miedzybrodzka, Zosia, Murray, Alex
Publicado 2014

Severe Hypertriglyceridaemia and Chylomicronaemia Syndrome—Causes, Clinical Presentation, and Therapeutic Options

por Bashir, Bilal, Ho, Jan H., Downie, Paul, Hamilton, Paul, Ferns, Gordon, Datta, Dev, Cegla, Jaimini, Wierzbicki, Anthony S., Dawson, Charlotte, Jenkinson, Fiona, Delaney, Hannah, Mansfield, Michael, Teoh, Yee, Miedzybrodzka, Zosia, Haso, Haya, Durrington, Paul N., Soran, Handrean
Publicado 2023

An actionable KCNH2 Long QT Syndrome variant detected by sequence and haplotype analysis in a population research cohort

por Kerr, Shona M., Klaric, Lucija, Halachev, Mihail, Hayward, Caroline, Boutin, Thibaud S., Meynert, Alison M., Semple, Colin A., Tuiskula, Annukka M., Swan, Heikki, Santoyo-Lopez, Javier, Vitart, Veronique, Haley, Chris, Dean, John, Miedzybrodzka, Zosia, Aitman, Timothy J., Wilson, James F.
Publicado 2019

Genome sequencing with gene panel-based analysis for rare inherited conditions in a publicly funded healthcare system: implications for future testing

por Hocking, Lynne J., Andrews, Claire, Armstrong, Christine, Ansari, Morad, Baty, David, Berg, Jonathan, Bradley, Therese, Clark, Caroline, Diamond, Austin, Doherty, Jill, Lampe, Anne, McGowan, Ruth, Moore, David J., O’Sullivan, Dawn, Purvis, Andrew, Santoyo-Lopez, Javier, Westwood, Paul, Abbott, Michael, Williams, Nicola, Aitman, Timothy J., Miedzybrodzka, Zosia
Publicado 2022

Evaluation of tumour surveillance protocols and outcomes in von Hippel-Lindau disease in a national health service

por Maher, Eamonn R., Adlard, Julian, Barwell, Julian, Brady, Angela F., Brennan, Paul, Cook, Jackie, Crawford, Gillian S., Dabir, Tabib, Davidson, Rosemarie, Dyer, Rebecca, Harrison, Rachel, Forde, Claire, Halliday, Dorothy, Hanson, Helen, Hay, Eleanor, Higgs, Jenny, Jones, Mari, Lalloo, Fiona, Miedzybrodzka, Zosia, Ong, Kai Ren, Pelz, Frauke, Ruddy, Deborah, Snape, Katie, Whitworth, James, Sandford, Richard N.
Publicado 2022