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

Por Shepherd Maggie H, Richards Suzanne H, Ellard Sian, Saukko Paula M, Campbell John L
Publicado em 2007-06-01

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

Por Saukko, Paula M, Ellard, Sian, Richards, Suzanne H, Shepherd, Maggie H, Campbell, John L
Publicado em 2007

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

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

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

Por Besser, Rachel E J, Jones, Jackie, McDonald, Timothy J, Smith, Rebecca, Shepherd, Maggie H, Hattersley, Andrew T
Publicado em 2012

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

Por Galloway, Tamara S, Baglin, Nigel, Lee, Benjamin P, Kocur, Anna L, Shepherd, Maggie H, Steele, Anna M, Harries, Lorna W
Publicado no 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...

Por Shepherd, Maggie H., Shields, Beverley M., Hudson, Michelle, Pearson, Ewan R., Hyde, Christopher, Ellard, Sian, Hattersley, Andrew T., Patel, Kashyap A.
Publicado no 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...

Por Besser, Rachel E.J., Shepherd, Maggie H., McDonald, Timothy J., Shields, Beverley M., Knight, Bridget A., Ellard, Sian, Hattersley, Andrew T.
Publicado em 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.

Por Pang, Lewis, Colclough, Kevin C., Shepherd, Maggie H., McLean, Joanne, Pearson, Ewan R., Ellard, Sian, Hattersley, Andrew T., Shields, Beverley M.
Publicado no Diabetes Care (2022)

Transient Neonatal Diabetes: An Etiologic Clue for the Adult Diabetologist

Por Novak, Anela, Bowman, Pamela, Kraljevic, Ivana, Tripolski, Marija, Houghton, Jayne A.L., De Franco, Elisa, Shepherd, Maggie H., Skrabic, Veselin, Patel, Kashyap A.
Publicado no Can J Diabetes (2020)

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

Por Shields, Beverley M, Angwin, Catherine D, Shepherd, Maggie H, Britten, Nicky, Jones, Angus G, Sattar, Naveed, Holman, Rury, Pearson, Ewan R, Hattersley, Andrew T
Publicado no Nat Med (2023)

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

Por McDonald, Timothy J., Besser, Rachel E., Perry, Mandy, Babiker, Tarig, Knight, Bridget A., Shepherd, Maggie H., Ellard, Sian, Flanagan, Sarah E., Hattersley, Andrew T.
Publicado no Diabetologia (2017)

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

Por 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
Publicado no Diabetes Care (2018)

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

Por 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
Publicado no Clin Chem (2020)

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

Por 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.
Publicado no Diabetologia (2016)

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

Por 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
Publicado no 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

Por 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
Publicado no BMJ Open Diabetes Res Care (2019)

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

Por 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.
Publicado no 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

Por 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.
Publicado no 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...

Por 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
Publicado no Diabetes (2008)

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

Por 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
Publicado no Lancet Diabetes Endocrinol (2018)