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Integration of the MODY link nurse project: 20-month evaluation.
Published in:
2005
By:
- Shepherd M;
- Hattersley A;
- Ellard S
Publication type:
Journal Article
Referral rates for diagnostic testing support an incidence of permanent neonatal diabetes in three European countries of at least 1 in 260,000 live births.
Published in:
2009
By:
- Slingerland, A.;
- Shields, B.;
- Flanagan, S.;
- Bruining, G.;
- Noordam, K.;
- Gach, A.;
- Mlynarski, W.;
- Malecki, M.;
- Hattersley, A.;
- Ellard, S.
Publication type:
Letter
Prevalence of GCK mutations in individuals screened for fasting hyperglycaemia.
Published in:
2009
By:
- Gloyn, A.;
- Bunt, M.;
- Stratton, I.;
- Lonie, L.;
- Tucker, L.;
- Ellard, S.;
- Holman, R.
Publication type:
Letter
A Kir6.2 mutation causing severe functional effects in vitro produces neonatal diabetes without the expected neurological complications.
Published in:
Diabetologia, 2008, v. 51, n. 5, p. 802, doi. 10.1007/s00125-008-0923-1
By:
- Tammaro, P.;
- Flanagan, S.;
- Zadek, B.;
- Srinivasan, S.;
- Woodhead, H.;
- Hameed, S.;
- Klimes, I.;
- Hattersley, A.;
- Ellard, S.;
- Ashcroft, F.
Publication type:
Article
Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young.
Published in:
Diabetologia, 2008, v. 51, n. 4, p. 546, doi. 10.1007/s00125-008-0942-y
By:
- Ellard, S.;
- Bellanné-Chantelot, C.;
- Hattersley, A.
Publication type:
Article
Partial and whole gene deletion mutations of the GCK and HNF1A genes in maturity-onset diabetes of the young.
Published in:
Diabetologia, 2007, v. 50, n. 11, p. 2313, doi. 10.1007/s00125-007-0798-6
By:
- Ellard, S.;
- Thomas, K.;
- Edghill, E.;
- Owens, M.;
- Ambye, L.;
- Cropper, J.;
- Little, J.;
- Strachan, M.;
- Stride, A.;
- Ersoy, B.;
- Eiberg, H.;
- Pedersen, O.;
- Shepherd, M.;
- Hansen, T.;
- Harries, L.;
- Hattersley, A.
Publication type:
Article
Mutations in HHEX are not a common cause of monogenic forms of beta cell dysfunction.
Published in:
2007
By:
- Minton, J.;
- Bunt, M.;
- Boustred, C.;
- Hussain, K.;
- Hattersley, A.;
- Ellard, S.;
- Gloyn, A.
Publication type:
Letter
Mutations in KCNJ11, which encodes Kir6.2, are a common cause of diabetes diagnosed in the first 6 months of life, with the phenotype determined by genotype.
Published in:
Diabetologia, 2006, v. 49, n. 6, p. 1190, doi. 10.1007/s00125-006-0246-z
By:
- Flanagan, S. E.;
- Edghill, E. L.;
- Gloyn, A. L.;
- Ellard, S.;
- Hattersley, A. T.
Publication type:
Article
Molecular genetics and phenotypic characteristics of MODY caused by hepatocyte nuclear factor 4α mutations in a large European collection.
Published in:
Diabetologia, 2005, v. 48, n. 5, p. 878, doi. 10.1007/s00125-005-1738-y
By:
- Pearson, E.R.;
- Pruhova, S.;
- Tack, C.J.;
- Johansen, A.;
- Castleden, H.A.J.;
- Lumb, P.J.;
- Wierzbicki, A.S.;
- Clark, P.M.;
- Lebl, J.;
- Pedersen, O.;
- Ellard, S.;
- Hansen, T.;
- Hattersley, A.T.
Publication type:
Article
The identification of a R201H mutation in KCNJ11, which encodes Kir6.2, and successful transfer to sustained-release sulphonylurea therapy in a subject with neonatal diabetes: evidence for heterogeneity of beta cell function among carriers of the R201H mutation
Published in:
2005
By:
- Klupa, T.;
- Edghill, E.L.;
- Nazim, J.;
- Sieradzki, J.;
- Ellard, S.;
- Hattersley, A. T.;
- Malecki, M.T.
Publication type:
Letter
Abnormal splicing of hepatocyte nuclear factor-1 beta in the renal cysts and diabetes syndrome Abnormal splicing of the HNF-1β gene.
Published in:
Diabetologia, 2004, v. 47, n. 5, p. 937, doi. 10.1007/s00125-004-1383-x
By:
- Harries, L. W.;
- Ellard, S.;
- Jones, R. W. A.;
- Hattersley, A. T.;
- Bingham, C.
Publication type:
Article
Abnormal splicing of hepatocyte nuclear factor 1 alpha in maturity-onset diabetes of the young M.P. Bulman et al.: Abnormal splicing of HNF-1α in MODY.
Published in:
Diabetologia, 2002, v. 45, n. 10, p. 1463, doi. 10.1007/s00125-002-0919-1
By:
- Bulman, M. P.;
- Harries, L. W.;
- Hansen, T.;
- Shepherd, M.;
- Kelly, W. F.;
- Hattersley, A. T.;
- Ellard, S.
Publication type:
Article
Observation.
Published in:
2002
By:
- Gloyn, A. L.;
- Ellard, S.;
- Shield, J.P.;
- Temple, I.K.;
- Mackay, D.J.G.;
- Polak, M.;
- Barrett, T.;
- Hattersley, A.T.
Publication type:
Letter
Observations¶Maturity onset diabetes of the young (MODY) and early onset Type II diabetes are not caused by loss of imprinting at the transient neonatal diabetes (TNDM) locus.
Published in:
Diabetologia, 2001, v. 44, n. 7, p. 924
By:
- Shield, J.;
- Owen, K.;
- Robinson, D. O.;
- Mackay, D.;
- Ellard, S.;
- Hattersley, A.;
- Temple, I. K.
Publication type:
Article
R127W in HNF4α is a loss-of-function mutation causing maturity-onset diabetes of the young (MODY) in a UK Caucasian family.
Published in:
Diabetologia, 2000, v. 43, n. 9, p. 1203
By:
- Bulman, M. P.;
- Ellard, S.;
- Hattersley, A. T.
Publication type:
Article
A high prevalence of glucokinase mutations in gestational diabetic subjects selected by clinical criteria.
Published in:
Diabetologia, 2000, v. 43, n. 2, p. 250, doi. 10.1007/s001250050038
By:
- Ellard, S.;
- Beards, F.;
- Allen, L. I. S.;
- Shepherd, M.;
- Ballantyne, E.;
- Harvey, R.;
- Hattersley, A. T.
Publication type:
Article
JAG1 mutations are found in approximately one third of patients presenting with only one or two clinical features of Alagille syndrome.
Published in:
Clinical Genetics, 2012, v. 82, n. 1, p. 33, doi. 10.1111/j.1399-0004.2011.01749.x
By:
- Guegan, K;
- Stals, K;
- Day, M;
- Turnpenny, P;
- Ellard, S
Publication type:
Article
Dominantly acting ABCC8 mutations in patients with medically unresponsive hyperinsulinaemic hypoglycaemia.
Published in:
Clinical Genetics, 2011, v. 79, n. 6, p. 582, doi. 10.1111/j.1399-0004.2010.01476.x
By:
- Flanagan, S. E.;
- Kapoor, R. R.;
- Banerjee, I.;
- Hall, C.;
- Smith, V. V.;
- Hussain, K.;
- Ellard, S.
Publication type:
Article
The laminopathies: a clinical review.
Published in:
Clinical Genetics, 2006, v. 70, n. 4, p. 261, doi. 10.1111/j.1399-0004.2006.00677.x
By:
- Rankin, J.;
- Ellard, S.
Publication type:
Article
Pseudodominant inheritance of spondylocostal dysostosis type 1 caused by two familial delta-like 3 mutations.
Published in:
Clinical Genetics, 2004, v. 66, n. 1, p. 67, doi. 10.1111/j.0009-9163.2004.00272.x
By:
- Whittock, N.V.;
- Ellard, S.;
- Duncan, J.;
- de Die-Smulders, C.E.M.;
- Vles, J.S.H.;
- Turnpenny, P.D.
Publication type:
Article
Pseudohypoaldosteronism type 2 presenting with hypertension and hyperkalaemia due to a novel mutation in the WNK4 gene.
Published in:
QJM: An International Journal of Medicine, 2012, v. 105, n. 8, p. 791, doi. 10.1093/qjmed/hcr119
By:
- Brooks, A.M.;
- Owens, M.;
- Sayer, J.A.;
- Salzmann, M.;
- Ellard, S.;
- Vaidya, B.
Publication type:
Article
Monogenic diabetes, renal dysplasia and hypopituitarism: a patient with a HNF1A mutation.
Published in:
QJM: An International Journal of Medicine, 2011, v. 104, n. 10, p. 881, doi. 10.1093/qjmed/hcq195
By:
- Simms, R.J.;
- Sayer, J.A.;
- Quinton, R.;
- Walker, M.;
- Ellard, S.;
- Goodship, T.H.J.
Publication type:
Article
Mutations in the ABCC8 gene encoding the SUR1 subunit of the K<sub>ATP</sub> channel cause transient neonatal diabetes, permanent neonatal diabetes or permanent diabetes diagnosed outside the neonatal period.
Published in:
Diabetes, Obesity & Metabolism, 2007, v. 9, p. 28, doi. 10.1111/j.1463-1326.2007.00772.x
By:
- Patch, A. M.;
- Flanagan, S. E.;
- Boustred, C.;
- Hattersley, A. T.;
- Ellard, S.
Publication type:
Article
Functional analysis of two Kir6.2 ( KCNJ11) mutations, K170T and E322K, causing neonatal diabetes.
Published in:
Diabetes, Obesity & Metabolism, 2007, v. 9, p. 46, doi. 10.1111/j.1463-1326.2007.00777.x
By:
- Tarasov, A. I.;
- Girard, C. A.;
- Larkin, B.;
- Tammaro, P.;
- Flanagan, S. E.;
- Ellard, S.;
- Ashcroft, F. M.
Publication type:
Article
Outcomes of women with early-stage breast cancer receiving adjuvant trastuzumab.
Published in:
Current Oncology, 2012, v. 19, n. 4, p. 197, doi. 10.3747/co.19.960
By:
- Seal, M. D.;
- Speers, C. H.;
- O'Reilly, S.;
- Gelmon, K. A.;
- Ellard, S. L.;
- Chia, S. K.
Publication type:
Article
Expanding the Clinical Spectrum Associated With GLIS3 Mutations.
Published in:
2015
By:
- Dimitri, P;
- Habeb, A M;
- Garbuz, F;
- Millward, A;
- Wallis, S;
- Moussa, K;
- Akcay, T;
- Taha, D;
- Hogue, J;
- Slavotinek, A;
- Wales, J K H;
- Shetty, A;
- Hawkes, D;
- Hattersley, A T;
- Ellard, S;
- De Franco, E;
- Gurbuz, F
Publication type:
journal article
The heterogeneity of focal forms of congenital hyperinsulinism.
Published in:
2012
By:
- Ismail D;
- Kapoor RR;
- Smith VV;
- Ashworth M;
- Blankenstein O;
- Pierro A;
- Flanagan SE;
- Ellard S;
- Hussain K;
- Ismail, Dunia;
- Kapoor, Ritika R;
- Smith, Virpi V;
- Ashworth, Michael;
- Blankenstein, Oliver;
- Pierro, Agostino;
- Flanagan, Sarah E;
- Ellard, Sian;
- Hussain, Khalid
Publication type:
journal article
Improved genetic testing for monogenic diabetes using targeted next-generation sequencing.
Published in:
Diabetologia, 2013, v. 56, n. 9, p. 1958, doi. 10.1007/s00125-013-2962-5
By:
- Ellard, S.;
- Lango Allen, H.;
- Franco, E.;
- Flanagan, S.;
- Hysenaj, G.;
- Colclough, K.;
- Houghton, J.;
- Shepherd, M.;
- Hattersley, A.;
- Weedon, M.;
- Caswell, R.
Publication type:
Article
Clinical presentation of 6q24 transient neonatal diabetes mellitus (6q24 TNDM) and genotype-phenotype correlation in an international cohort of patients.
Published in:
Diabetologia, 2013, v. 56, n. 4, p. 758, doi. 10.1007/s00125-013-2832-1
By:
- Docherty, L.;
- Kabwama, S.;
- Lehmann, A.;
- Hawke, E.;
- Harrison, L.;
- Flanagan, S.;
- Ellard, S.;
- Hattersley, A.;
- Shield, J.;
- Ennis, S.;
- Mackay, D.;
- Temple, I.
Publication type:
Article
Hypoglycaemia following diabetes remission in patients with 6q24 methylation defects: expanding the clinical phenotype.
Published in:
2013
By:
- Flanagan, S.;
- Mackay, D.;
- Greeley, S.;
- McDonald, T.;
- Mericq, V.;
- Hassing, J.;
- Richmond, E.;
- Martin, W.;
- Acerini, C.;
- Kaulfers, A.;
- Flynn, D.;
- Popovic, J.;
- Sperling, M.;
- Hussain, K.;
- Ellard, S.;
- Hattersley, A.
Publication type:
Letter
SLC2A2 mutations can cause neonatal diabetes, suggesting GLUT2 may have a role in human insulin secretion.
Published in:
Diabetologia, 2012, v. 55, n. 9, p. 2381, doi. 10.1007/s00125-012-2595-0
By:
- Sansbury, F.;
- Flanagan, S.;
- Houghton, J.;
- Shuixian Shen, F.;
- Al-Senani, A.;
- Habeb, A.;
- Abdullah, M.;
- Kariminejad, A.;
- Ellard, S.;
- Hattersley, A.
Publication type:
Article
The development and validation of a clinical prediction model to determine the probability of MODY in patients with young-onset diabetes.
Published in:
Diabetologia, 2012, v. 55, n. 5, p. 1265, doi. 10.1007/s00125-011-2418-8
By:
- Shields, B.;
- McDonald, T.;
- Ellard, S.;
- Campbell, M.;
- Hyde, C.;
- Hattersley, A.
Publication type:
Article
Heterozygous ABCC8 mutations are a cause of MODY.
Published in:
Diabetologia, 2012, v. 55, n. 1, p. 123, doi. 10.1007/s00125-011-2319-x
By:
- Bowman, P.;
- Flanagan, S.;
- Edghill, E.;
- Damhuis, A.;
- Shepherd, M.;
- Paisey, R.;
- Hattersley, A.;
- Ellard, S.
Publication type:
Article
Hyperinsulinaemic hypoglycaemia and diabetes mellitus due to dominant ABCC8/KCNJ11 mutations.
Published in:
Diabetologia, 2011, v. 54, n. 10, p. 2575, doi. 10.1007/s00125-011-2207-4
By:
- Kapoor, R.;
- Flanagan, S.;
- James, C.;
- McKiernan, J.;
- Thomas, A.;
- Harmer, S.;
- Shield, J.;
- Tinker, A.;
- Ellard, S.;
- Hussain, K.
Publication type:
Article
The previously reported T342P GCK missense variant is not a pathogenic mutation causing MODY.
Published in:
2011
By:
- Steele, A.;
- Tribble, N.;
- Caswell, R.;
- Wensley, K.;
- Hattersley, A.;
- Gloyn, A.;
- Ellard, S.
Publication type:
Letter
Maturity-onset diabetes of the young (MODY): how many cases are we missing?
Published in:
Diabetologia, 2010, v. 53, n. 12, p. 2504, doi. 10.1007/s00125-010-1799-4
By:
- Shields, B.;
- Hicks, S.;
- Shepherd, M.;
- Colclough, K.;
- Hattersley, A.;
- Ellard, S.
Publication type:
Article
Type 1 diabetes genetic risk score discriminates between monogenic and Type 1 diabetes in children diagnosed at the age of <5 years in the Iranian population.
Published in:
Diabetic Medicine, 2019, v. 36, n. 12, p. 1694, doi. 10.1111/dme.14071
By:
- Yaghootkar, H.;
- Abbasi, F.;
- Ghaemi, N.;
- Rabbani, A.;
- Wakeling, M. N.;
- Eshraghi, P.;
- Enayati, S.;
- Vakili, S.;
- Heidari, S.;
- Patel, K.;
- Sayarifard, F.;
- Borhan‐Dayani, S.;
- McDonald, T. J.;
- Ellard, S.;
- Hattersley, A. T.;
- Amoli, M. M.;
- Vakili, R.;
- Colclough, K.
Publication type:
Article
Analysis of cell-free fetal DNA for non-invasive prenatal diagnosis in a family with neonatal diabetes.
Published in:
Diabetic Medicine, 2017, v. 34, n. 4, p. 582, doi. 10.1111/dme.13180
By:
- De Franco, E.;
- Caswell, R.;
- Houghton, J. A. L.;
- Iotova, V.;
- Hattersley, A. T.;
- Ellard, S.
Publication type:
Article
tRNA methyltransferase homologue gene TRMT10A mutation in young adult-onset diabetes with intellectual disability, microcephaly and epilepsy.
Published in:
Diabetic Medicine, 2016, v. 33, n. 9, p. e21, doi. 10.1111/dme.13024
By:
- Yew, T. W.;
- McCreight, L.;
- Colclough, K.;
- Ellard, S.;
- Pearson, E. R.
Publication type:
Article
Successful maintenance on sulphonylurea therapy and low diabetes complication rates in a HNF1A-MODY cohort.
Published in:
Diabetic Medicine, 2016, v. 33, n. 7, p. 976, doi. 10.1111/dme.12992
By:
- Bacon, S.;
- Kyithar, M. P.;
- Rizvi, S. R.;
- Donnelly, E.;
- McCarthy, A.;
- Burke, M.;
- Colclough, K.;
- Ellard, S.;
- Byrne, M. M.
Publication type:
Article
HNF4A mutation: switch from hyperinsulinaemic hypoglycaemia to maturity-onset diabetes of the young, and incretin response.
Published in:
Diabetic Medicine, 2014, v. 31, n. 3, p. e11, doi. 10.1111/dme.12369
By:
- Arya, V. B.;
- Rahman, S.;
- Senniappan, S.;
- Flanagan, S. E.;
- Ellard, S.;
- Hussain, K.
Publication type:
Article
The evolving course of HNF4A hyperinsulinaemic hypoglycaemia-a case series.
Published in:
Diabetic Medicine, 2014, v. 31, n. 1, p. e1, doi. 10.1111/dme.12259
By:
- McGlacken‐Byrne, S. M.;
- Hawkes, C. P.;
- Flanagan, S. E.;
- Ellard, S.;
- McDonnell, C. M.;
- Murphy, N. P.
Publication type:
Article
Atypical phenotype associated with reported GCK exon 10 deletions: clinical judgement is needed alongside appropriate genetic investigations.
Published in:
Diabetic Medicine, 2013, v. 30, n. 8, p. e233, doi. 10.1111/dme.12210
By:
- Thanabalasingham, G.;
- Kaur, K.;
- Talbot, F.;
- Colclough, K.;
- Mathews, A.;
- Taylor, J.;
- Ellard, S.;
- Owen, K. R.
Publication type:
Article
Biallelic PDX1 (insulin promoter factor 1) mutations causing neonatal diabetes without exocrine pancreatic insufficiency.
Published in:
Diabetic Medicine, 2013, v. 30, n. 5, p. e197, doi. 10.1111/dme.12122
By:
- Franco, E.;
- Shaw‐Smith, C.;
- Flanagan, S. E.;
- Edghill, E. L.;
- Wolf, J.;
- Otte, V.;
- Ebinger, F.;
- Varthakavi, P.;
- Vasanthi, T.;
- Edvardsson, S.;
- Hattersley, A. T.;
- Ellard, S.
Publication type:
Article
HNF1B deletions in patients with young-onset diabetes but no known renal disease.
Published in:
Diabetic Medicine, 2013, v. 30, n. 1, p. 114, doi. 10.1111/j.1464-5491.2012.03709.x
By:
- Edghill, E. L.;
- Stals, K.;
- Oram, R. A.;
- Shepherd, M. H.;
- Hattersley, A. T.;
- Ellard, S.
Publication type:
Article
Effective treatment of diabetes caused by activating ABCC8/SUR1 mutation with glimepiride.
Published in:
Diabetic Medicine, 2012, v. 29, n. 5, p. 692, doi. 10.1111/j.1464-5491.2011.03487.x
By:
- Karges, B.;
- Schnur, D.;
- Ellard, S.;
- Kentrup, H.;
- Karges, W.
Publication type:
Article
Sequencing PDX1 (insulin promoter factor 1) in 1788 UK individuals found 5% had a low frequency coding variant, but these variants are not associated with Type 2 diabetes.
Published in:
Diabetic Medicine, 2011, v. 28, n. 6, p. 681, doi. 10.1111/j.1464-5491.2011.03269.x
By:
- Edghill, E. L.;
- Khamis, A.;
- Weedon, M. N.;
- Walker, M.;
- Hitman, G. A.;
- McCarthy, M. I.;
- Owen, K. R.;
- Ellard, S.;
- Hattersley, A. T.;
- Frayling, T. M.
Publication type:
Article
Entities and frequency of neonatal diabetes: data from the diabetes documentation and quality management system (DPV)
Published in:
2010
By:
- Grulich-Henn J;
- Wagner V;
- Thon A;
- Schober E;
- Marg W;
- Kapellen TM;
- Haberland H;
- Raile K;
- Ellard S;
- Flanagan SE;
- Hattersley AT;
- Holl RW
Publication type:
Journal Article
Novel monogenic diabetes mutations in the P2 promoter of the HNF4A gene are associated with impaired function in vitro.
Published in:
Diabetic Medicine, 2010, v. 27, n. 6, p. 631, doi. 10.1111/j.1464-5491.2010.03003.x
By:
- Wirsing, A.;
- Johnstone, K. A.;
- Harries, L. W.;
- Ellard, S.;
- Ryffel, G. U.;
- Stanik, J.;
- Gasperikova, D.;
- Klimes, I.;
- Murphy, R.
Publication type:
Article
Entities and frequency of neonatal diabetes: data from the diabetes documentation and quality management system (DPV).
Published in:
Diabetic Medicine, 2010, v. 27, n. 6, p. 709, doi. 10.1111/j.1464-5491.2010.02965.x
By:
- Grulich-Henn, J.;
- Wagner, V.;
- Thon, A.;
- Schober, E.;
- Marg, W.;
- Kapellen, T. M.;
- Haberland, H.;
- Raile, K.;
- Ellard, S.;
- Flanagan, S. E.;
- Hattersley, A. T.;
- Holl, R. W.
Publication type:
Article

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