Precision diabetes: learning from monogenic diabetes

بواسطة Hattersley, Andrew T., Patel, Kashyap A.
الحاوية / القاعدة Diabetologia (2017)

Prediction algorithms: pitfalls in interpreting genetic variants of autosomal dominant monogenic diabetes

بواسطة Ellard, Sian, Colclough, Kevin, Patel, Kashyap A., Hattersley, Andrew T.
الحاوية / القاعدة J Clin Invest (2019)

Zinc Transporter 8 autoantibodies (ZnT8A) and a Type 1 diabetes-genetic risk score can exclude individuals with type 1 diabetes from inappropriate genetic testing for monogenic dia...

بواسطة Patel, Kashyap A, Weedon, Michael N, Shields, Beverley M., Pearson, Ewan R, Hattersley, Andrew T., McDonald, Timothy J.
الحاوية / القاعدة Diabetes Care (2019)

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

بواسطة Shepherd, Maggie H., Shields, Beverley M., Hudson, Michelle, Pearson, Ewan R., Hyde, Christopher, Ellard, Sian, Hattersley, Andrew T., Patel, Kashyap A.
الحاوية / القاعدة Diabetologia (2018)

Utility of systematic TSHR gene testing in adults with hyperthyroidism lacking overt autoimmunity and diffuse uptake on thyroid scintigraphy

بواسطة Patel, Kashyap A., Knight, Bridget, Aziz, Aftab, Babiker, Tarig, Tamar, Avades, Findlay, Joanna, Cox, Sue, Dimitropoulos, Ioannis, Tysoe, Carolyn, Panicker, Vijay, Vaidya, Bijay
الحاوية / القاعدة Clin Endocrinol (Oxf) (2018)

Transient Neonatal Diabetes: An Etiologic Clue for the Adult Diabetologist

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

A type 1 diabetes genetic risk score can discriminate monogenic autoimmunity with diabetes from early-onset clustering of polygenic autoimmunity with diabetes

بواسطة Johnson, Matthew B., Patel, Kashyap A., De Franco, Elisa, Houghton, Jayne A. L., McDonald, Timothy J., Ellard, Sian, Flanagan, Sarah E., Hattersley, Andrew T.
الحاوية / القاعدة Diabetologia (2018)

Birth weight and diazoxide unresponsiveness strongly predict the likelihood of congenital hyperinsulinism due to a mutation in ABCC8 or KCNJ11

بواسطة Hewat, Thomas I., Yau, Daphne, Jerome, Joseph C. S., Laver, Thomas W., Houghton, Jayne A. L., Shields, Beverley M., Flanagan, Sarah E., Patel, Kashyap A.
الحاوية / القاعدة Eur J Endocrinol (2021)

Type 2 Diabetes and COVID-19–Related Mortality in the Critical Care Setting: A National Cohort Study in England, March–July 2020

بواسطة Dennis, John M., Mateen, Bilal A., Sonabend, Raphael, Thomas, Nicholas J., Patel, Kashyap A., Hattersley, Andrew T., Denaxas, Spiros, McGovern, Andrew P., Vollmer, Sebastian J.
الحاوية / القاعدة Diabetes Care (2021)

PLIN1 Haploinsufficiency Is Not Associated With Lipodystrophy

بواسطة Laver, Thomas W, Patel, Kashyap A, Colclough, Kevin, Curran, Jacqueline, Dale, Jane, Davis, Nikki, Savage, David B, Flanagan, Sarah E, Ellard, Sian, Hattersley, Andrew T, Weedon, Michael N
الحاوية / القاعدة J Clin Endocrinol Metab (2018)

Trisomy 21 Is a Cause of Permanent Neonatal Diabetes That Is Autoimmune but Not HLA Associated

بواسطة Johnson, Matthew B., De Franco, Elisa, Greeley, Siri Atma W., Letourneau, Lisa R., Gillespie, Kathleen M., Wakeling, Matthew N., Ellard, Sian, Flanagan, Sarah E., Patel, Kashyap A., Hattersley, Andrew T.
الحاوية / القاعدة Diabetes (2019)

Type 1 diabetes genetic risk score is discriminative of diabetes in non-Europeans: evidence from a study in India

بواسطة Harrison, James W., Tallapragada, Divya Sri Priyanka, Baptist, Alma, Sharp, Seth A., Bhaskar, Seema, Jog, Kalpana S., Patel, Kashyap A., Weedon, Michael N., Chandak, Giriraj R., Yajnik, Chittaranjan S., Oram, Richard A.
الحاوية / القاعدة Sci Rep (2020)

All thresholds of maternal hyperglycaemia from the WHO 2013 criteria for gestational diabetes identify women with a higher genetic risk for type 2 diabetes

بواسطة Hughes, Alice E., Hayes, M. Geoffrey, Egan, Aoife M., Patel, Kashyap A., Scholtens, Denise M., Lowe, Lynn P., Lowe Jr, William L., Dunne, Fidelma P., Hattersley, Andrew T., Freathy, Rachel M.
الحاوية / القاعدة Wellcome Open Res (2021)

The common HNF1A variant I27L is a modifier of age at diabetes diagnosis in HNF1A-MODY individuals

بواسطة Locke, Jonathan M, Saint-Martin, Cécile, Laver, Thomas W, Patel, Kashyap A, Wood, Andrew R, Sharp, Seth A, Ellard, Sian, Bellanné-Chantelot, Christine, Hattersley, Andrew T, Harries, Lorna W, Weedon, Michael N
الحاوية / القاعدة Diabetes (2018)

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

بواسطة 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
الحاوية / القاعدة BMJ Open Diabetes Res Care (2019)

Loss of MANF Causes Childhood-Onset Syndromic Diabetes Due to Increased Endoplasmic Reticulum Stress

بواسطة Montaser, Hossam, Patel, Kashyap A., Balboa, Diego, Ibrahim, Hazem, Lithovius, Väinö, Näätänen, Anna, Chandra, Vikash, Demir, Korcan, Acar, Sezer, Ben-Omran, Tawfeg, Colclough, Kevin, Locke, Jonathan M., Wakeling, Matthew, Lindahl, Maria, Hattersley, Andrew T., Saarimäki-Vire, Jonna, Otonkoski, Timo
الحاوية / القاعدة Diabetes (2021)

Type 1 diabetes can present before the age of 6 months and is characterised by autoimmunity and rapid loss of beta cells

بواسطة Johnson, Matthew B., Patel, Kashyap A., De Franco, Elisa, Hagopian, William, Killian, Michael, McDonald, Timothy J., Tree, Timothy I. M., Domingo-Vila, Clara, Hudson, Michelle, Hammersley, Suzanne, Dobbs, Rebecca, Ellard, Sian, Flanagan, Sarah E., Hattersley, Andrew T., Oram, Richard A.
الحاوية / القاعدة Diabetologia (2020)

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

بواسطة 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.
الحاوية / القاعدة Nat Commun (2017)

Prospective functional classification of all possible missense variants in PPARG

بواسطة Majithia, Amit R., Tsuda, Ben, Agostini, Maura, Gnanapradeepan, Keerthana, Rice, Robert, Peloso, Gina, Patel, Kashyap A., Zhang, Xiaolan, Broekema, Marjoleine F., Patterson, Nick, Duby, Marc, Sharpe, Ted, Kalkhoven, Eric, Rosen, Evan D., Barroso, Inês, Ellard, Sian, Kathiresan, Sekar, O’Rahilly, Stephen, Chatterjee, Krishna, Florez, Jose C., Mikkelsen, Tarjei, Savage, David B., Altshuler, David
الحاوية / القاعدة Nat Genet (2016)

Non-coding variants disrupting a tissue-specific regulatory element in HK1 cause congenital hyperinsulinism

بواسطة Wakeling, Matthew N., Owens, Nick D. L., Hopkinson, Jessica R., Johnson, Matthew B., Houghton, Jayne A.L., Dastamani, Antonia, Flaxman, Christine S., Wyatt, Rebecca C., Hewat, Thomas I., Hopkins, Jasmin J., Laver, Thomas W., van Heugten, Rachel, Weedon, Michael N., De Franco, Elisa, Patel, Kashyap A., Ellard, Sian, Morgan, Noel G., Cheesman, Edmund, Banerjee, Indraneel, Hattersley, Andrew T., Dunne, Mark J., Richardson, Sarah J., Flanagan, Sarah E.
الحاوية / القاعدة Nat Genet (2022)