Patients' understanding of genetic susceptibility testing in mainstream medicine: qualitative study on thrombophilia

Autor Shepherd Maggie H, Richards Suzanne H, Ellard Sian, Saukko Paula M, Campbell John L
Vydáno 2007-06-01

Patients' understanding of genetic susceptibility testing in mainstream medicine: qualitative study on thrombophilia

Autor Saukko, Paula M, Ellard, Sian, Richards, Suzanne H, Shepherd, Maggie H, Campbell, John L
Vydáno 2007

GATA6 Mutations Cause a Broad Phenotypic Spectrum of Diabetes From Pancreatic Agenesis to Adult-Onset Diabetes Without Exocrine Insufficiency

Autor De Franco, Elisa, Shaw-Smith, Charles, Flanagan, Sarah E., Shepherd, Maggie H., Hattersley, Andrew T., Ellard, Sian
Vydáno 2013

Using highly sensitive C-reactive protein measurement to diagnose MODY in a family with suspected type 2 diabetes

Autor Besser, Rachel E J, Jones, Jackie, McDonald, Timothy J, Smith, Rebecca, Shepherd, Maggie H, Hattersley, Andrew T
Vydáno 2012

An engaged research study to assess the effect of a ‘real-world’ dietary intervention on urinary bisphenol A (BPA) levels in teenagers

Autor Galloway, Tamara S, Baglin, Nigel, Lee, Benjamin P, Kocur, Anna L, Shepherd, Maggie H, Steele, Anna M, Harries, Lorna W
Vydáno v BMJ Open (2018)

A UK nationwide prospective study of treatment change in MODY: genetic subtype and clinical characteristics predict optimal glycaemic control after discontinuing insulin and metfor...

Autor Shepherd, Maggie H., Shields, Beverley M., Hudson, Michelle, Pearson, Ewan R., Hyde, Christopher, Ellard, Sian, Hattersley, Andrew T., Patel, Kashyap A.
Vydáno v Diabetologia (2018)

Urinary C-Peptide Creatinine Ratio Is a Practical Outpatient Tool for Identifying Hepatocyte Nuclear Factor 1-α/Hepatocyte Nuclear Factor 4-α Maturity-Onset Diabetes of the Young F...

Autor Besser, Rachel E.J., Shepherd, Maggie H., McDonald, Timothy J., Shields, Beverley M., Knight, Bridget A., Ellard, Sian, Hattersley, Andrew T.
Vydáno 2011

Improvements in Awareness and Testing Have Led to a Threefold Increase Over 10 Years in the Identification of Monogenic Diabetes in the U.K.

Autor Pang, Lewis, Colclough, Kevin C., Shepherd, Maggie H., McLean, Joanne, Pearson, Ewan R., Ellard, Sian, Hattersley, Andrew T., Shields, Beverley M.
Vydáno v Diabetes Care (2022)

Transient Neonatal Diabetes: An Etiologic Clue for the Adult Diabetologist

Autor Novak, Anela, Bowman, Pamela, Kraljevic, Ivana, Tripolski, Marija, Houghton, Jayne A.L., De Franco, Elisa, Shepherd, Maggie H., Skrabic, Veselin, Patel, Kashyap A.
Vydáno v Can J Diabetes (2020)

Patient preference for second and third line therapies in type 2 diabetes: a prespecified secondary endpoint of the TriMaster study

Autor Shields, Beverley M, Angwin, Catherine D, Shepherd, Maggie H, Britten, Nicky, Jones, Angus G, Sattar, Naveed, Holman, Rury, Pearson, Ewan R, Hattersley, Andrew T
Vydáno v Nat Med (2023)

Screening for neonatal diabetes at day 5 of life using dried blood spot glucose measurement

Autor McDonald, Timothy J., Besser, Rachel E., Perry, Mandy, Babiker, Tarig, Knight, Bridget A., Shepherd, Maggie H., Ellard, Sian, Flanagan, Sarah E., Hattersley, Andrew T.
Vydáno v Diabetologia (2017)

Cognitive, neurological and behavioral features in adults with KCNJ11 neonatal diabetes

Autor Bowman, Pamela, Day, Jacob, Torrens, Lorna, Shepherd, Maggie H, Knight, Bridget A, Ford, Tamsin J, Flanagan, Sarah E, Chakera, Ali, Hattersley, Andrew T, Zeman, Adam
Vydáno v Diabetes Care (2018)

Noninvasive Fetal Genotyping by Droplet Digital PCR to Identify Maternally Inherited Monogenic Diabetes Variants

Autor Caswell, Richard C., Snowsill, Tristan, Houghton, Jayne A.L., Chakera, Ali J., Shepherd, Maggie H., Laver, Thomas W., Knight, Bridget A., Wright, David, Hattersley, Andrew T., Ellard, Sian
Vydáno v Clin Chem (2020)

Successful transfer to sulfonylureas in KCNJ11 neonatal diabetes is determined by the mutation and duration of diabetes

Autor Babiker, Tarig, Vedovato, Natascia, Patel, Kashyap, Thomas, Nicholas, Finn, Roisin, Männikkö, Roope, Chakera, Ali J., Flanagan, Sarah E., Shepherd, Maggie H., Ellard, Sian, Ashcroft, Frances M., Hattersley, Andrew T.
Vydáno v Diabetologia (2016)

GATA6 Cooperates with EOMES/SMAD2/3 to Deploy the Gene Regulatory Network Governing Human Definitive Endoderm and Pancreas Formation

Autor Chia, Crystal Y., Madrigal, Pedro, Denil, Simon L.I.J., Martinez, Iker, Garcia-Bernardo, Jose, El-Khairi, Ranna, Chhatriwala, Mariya, Shepherd, Maggie H., Hattersley, Andrew T., Dunn, N. Ray, Vallier, Ludovic
Vydáno v Stem Cell Reports (2019)

Patterns of postmeal insulin secretion in individuals with sulfonylurea-treated KCNJ11 neonatal diabetes show predominance of non-K(ATP)-channel pathways

Autor Bowman, Pamela, McDonald, Timothy J, Knight, Bridget A, Flanagan, Sarah E, Leveridge, Maria, Spaull, Steve R, Shields, Beverley M, Hammersley, Suzanne, Shepherd, Maggie H, Andrews, Robert C, Patel, Kashyap A, Hattersley, Andrew T
Vydáno v BMJ Open Diabetes Res Care (2019)

Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance

Autor Patel, Kashyap A., Kettunen, Jarno, Laakso, Markku, Stančáková, Alena, Laver, Thomas W., Colclough, Kevin, Johnson, Matthew B., Abramowicz, Marc, Groop, Leif, Miettinen, Päivi J., Shepherd, Maggie H., Flanagan, Sarah E., Ellard, Sian, Inagaki, Nobuya, Hattersley, Andrew T., Tuomi, Tiinamaija, Cnop, Miriam, Weedon, Michael N.
Vydáno v Nat Commun (2017)

Long-term Follow-up of Glycemic and Neurological Outcomes in an International Series of Patients With Sulfonylurea-Treated ABCC8 Permanent Neonatal Diabetes

Autor Bowman, Pamela, Mathews, Frances, Barbetti, Fabrizio, Shepherd, Maggie H., Sanchez, Janine, Piccini, Barbara, Beltrand, Jacques, Letourneau-Freiberg, Lisa R., Polak, Michel, Greeley, Siri Atma W., Rawlins, Eamon, Babiker, Tarig, Thomas, Nicholas J., De Franco, Elisa, Ellard, Sian, Flanagan, Sarah E., Hattersley, Andrew T.
Vydáno v Diabetes Care (2021)

Insulin Mutation Screening in 1044 Patients with Diabetes: Mutations in the INS gene are a Common Cause of Neonatal Diabetes but a Rare Cause of Diabetes Diagnosed in Childhood or...

Autor Edghill, Emma L., Flanagan, Sarah E., Patch, Ann-Marie, Boustred, Chris, Parrish, Andrew, Shields, Beverley, Shepherd, Maggie H., Hussain, Khalid, Kapoor, Ritika R., Malecki, Maciej, MacDonald, Michael J., Støy, Julie, Steiner, Donald F., Philipson, Louis H., Bell, Graeme I., Hattersley, Andrew T., Ellard, Sian
Vydáno v Diabetes (2008)

Effectiveness and safety of long-term treatment with sulfonylureas in patients with neonatal diabetes due to KCNJ11 mutations: an international cohort study

Autor Bowman, Pamela, Sulen, Åsta, Barbetti, Fabrizio, Beltrand, Jacques, Svalastoga, Pernille, Codner, Ethel, Tessmann, Ellen H, Juliusson, Petur B, Skrivarhaug, Torild, Pearson, Ewan R, Flanagan, Sarah E, Babiker, Tarig, Thomas, Nicholas J, Shepherd, Maggie H, Ellard, Sian, Klimes, Iwar, Szopa, Magdalena, Polak, Michel, Iafusco, Dario, Hattersley, Andrew T, Njølstad, Pål R
Vydáno v Lancet Diabetes Endocrinol (2018)