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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
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- Publication type:
- Article
Analysis of cell-free fetal DNA for non-invasive prenatal diagnosis in a family with neonatal diabetes.
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- Diabetic Medicine, 2017, v. 34, n. 4, p. 582, doi. 10.1111/dme.13180
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- Publication type:
- Article
tRNA methyltransferase homologue gene TRMT10A mutation in young adult-onset diabetes with intellectual disability, microcephaly and epilepsy.
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- Diabetic Medicine, 2016, v. 33, n. 9, p. e21, doi. 10.1111/dme.13024
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- Publication type:
- Article
Successful maintenance on sulphonylurea therapy and low diabetes complication rates in a HNF1A-MODY cohort.
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- Diabetic Medicine, 2016, v. 33, n. 7, p. 976, doi. 10.1111/dme.12992
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- Publication type:
- Article
HNF4A mutation: switch from hyperinsulinaemic hypoglycaemia to maturity-onset diabetes of the young, and incretin response.
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- Diabetic Medicine, 2014, v. 31, n. 3, p. e11, doi. 10.1111/dme.12369
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- Publication type:
- Article
The evolving course of HNF4A hyperinsulinaemic hypoglycaemia-a case series.
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- Diabetic Medicine, 2014, v. 31, n. 1, p. e1, doi. 10.1111/dme.12259
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- Publication type:
- Article
Atypical phenotype associated with reported GCK exon 10 deletions: clinical judgement is needed alongside appropriate genetic investigations.
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- Diabetic Medicine, 2013, v. 30, n. 8, p. e233, doi. 10.1111/dme.12210
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- Article
Biallelic PDX1 (insulin promoter factor 1) mutations causing neonatal diabetes without exocrine pancreatic insufficiency.
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- Diabetic Medicine, 2013, v. 30, n. 5, p. e197, doi. 10.1111/dme.12122
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- Publication type:
- Article
HNF1B deletions in patients with young-onset diabetes but no known renal disease.
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- Diabetic Medicine, 2013, v. 30, n. 1, p. 114, doi. 10.1111/j.1464-5491.2012.03709.x
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- Publication type:
- Article
Effective treatment of diabetes caused by activating ABCC8/SUR1 mutation with glimepiride.
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- Diabetic Medicine, 2012, v. 29, n. 5, p. 692, doi. 10.1111/j.1464-5491.2011.03487.x
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- 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.
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- Diabetic Medicine, 2011, v. 28, n. 6, p. 681, doi. 10.1111/j.1464-5491.2011.03269.x
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- Publication type:
- Article
Entities and frequency of neonatal diabetes: data from the diabetes documentation and quality management system (DPV)
- Published in:
- 2010
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- Publication type:
- Journal 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
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- Publication type:
- Article
Novel monogenic diabetes mutations in the P2 promoter of the HNF4A gene are associated with impaired function in vitro.
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- Diabetic Medicine, 2010, v. 27, n. 6, p. 631, doi. 10.1111/j.1464-5491.2010.03003.x
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- Publication type:
- Article
Increased all-cause and cardiovascular mortality in monogenic diabetes as a result of mutations in the HNF1A gene.
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- Diabetic Medicine, 2010, v. 27, n. 2, p. 157, doi. 10.1111/j.1464-5491.2009.02913.x
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- Publication type:
- Article
Variants in the isoform-specific coding regions of the HNF1A, HNF4A and HNF1B genes are not a common cause of familial, young-onset diabetes or renal cysts and diabetes (RCAD)
- Published in:
- 2009
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- Publication type:
- Journal Article
Variants in the isoform-specific coding regions of the HNF1A, HNF4A and HNF1B genes are not a common cause of familial, young-onset diabetes or renal cysts and diabetes (RCAD).
- Published in:
- 2009
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- Publication type:
- Letter
A genetic diagnosis of HNF1A diabetes alters treatment and improves glycaemic control in the majority of insulin-treated patients.
- Published in:
- Diabetic Medicine, 2009, v. 26, n. 4, p. 437, doi. 10.1111/j.1464-5491.2009.02690.x
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- Publication type:
- Article
Pregnancy outcome in patients with raised blood glucose due to a heterozygous glucokinase gene mutation.
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- Diabetic Medicine, 2009, v. 26, n. 1, p. 14, doi. 10.1111/j.1464-5491.2008.02622.x
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- Publication type:
- Article
Heterogeneity in disease severity in a family with a novel G68V GCK activating mutation causing persistent hyperinsulinaemic hypoglycaemia of infancy.
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- Diabetic Medicine, 2007, v. 24, n. 12, p. 1393, doi. 10.1111/j.1464-5491.2007.02285.x
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- Publication type:
- Article
Low prevalence of mitochondrial DNA 3243A>G point mutation in Caucasians with unexplained renal disease.
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- 2007
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- Publication type:
- Letter
Hepatocyte nuclear factor-1 beta mutations cause neonatal diabetes and intrauterine growth retardation: support for a critical role of HNF-1beta in human pancreatic development.
- Published in:
- 2006
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- Publication type:
- Journal Article
Hepatocyte nuclear factor-1 beta mutations cause neonatal diabetes and intrauterine growth retardation: support for a critical role of HNF-1β in human pancreatic development.
- Published in:
- Diabetic Medicine, 2006, v. 23, n. 12, p. 1301, doi. 10.1111/j.1464-5491.2006.01999.x
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- Publication type:
- Article
Asian MODY: are we missing an important diagnosis?
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- Diabetic Medicine, 2006, v. 23, n. 11, p. 1257, doi. 10.1111/j.1464-5491.2006.01958.x
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- 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
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- 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
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- Publication type:
- Article
Ten years of the national genetic diabetes nurse network: a model for the translation of genetic information into clinical care.
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- Clinical Medicine, 2014, v. 14, n. 2, p. 117, doi. 10.7861/clinmedicine.14-2-117
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- Publication type:
- Article
Juvenile diabetes and visual impairment: Wolfram syndrome.
- Published in:
- QJM: An International Journal of Medicine, 2019, v. 112, n. 10, p. 803, doi. 10.1093/qjmed/hcz066
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- Publication type:
- Article
Pseudohypoaldosteronism type 2 presenting with hypertension and hyperkalaemia due to a novel mutation in the WNK4 gene.
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- QJM: An International Journal of Medicine, 2012, v. 105, n. 8, p. 791, doi. 10.1093/qjmed/hcr119
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- Publication type:
- Article
Monogenic diabetes, renal dysplasia and hypopituitarism: a patient with a HNF1A mutation.
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- QJM: An International Journal of Medicine, 2011, v. 104, n. 10, p. 881, doi. 10.1093/qjmed/hcq195
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- Publication type:
- Article
The generalized aminoaciduria seen in patients with hepatocyte nuclear factor-1alpha mutations is a feature of all patients with diabetes and is associated with glucosuria.
- Published in:
- 2001
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- Publication type:
- journal article
beta-cell genes and diabetes: molecular and clinical characterization of mutations in transcription factors.
- Published in:
- 2001
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- Publication type:
- journal article
beta-cell genes and diabetes: quantitative and qualitative differences in the pathophysiology of hepatic nuclear factor-1alpha and glucokinase mutations.
- Published in:
- 2001
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- Publication type:
- journal article
Parent-offspring trios: a resource to facilitate the identification of type 2 diabetes genes.
- Published in:
- 1999
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- Publication type:
- journal article
Allelic drop-out in exon 2 of the hepatocyte nuclear factor-1alpha gene hinders the identification of mutations in three families with maturity-onset diabetes of the young.
- Published in:
- 1999
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- Publication type:
- journal article
Mutations in hepatocyte nuclear factor 1beta are not a common cause of maturity-onset diabetes of the young in the U.K.
- Published in:
- 1998
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- Publication type:
- journal article
Mutations in the hepatocyte nuclear factor-1alpha gene are a common cause of maturity-onset diabetes of the young in the U.K.
- Published in:
- 1997
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- Publication type:
- journal article
Successful sulfonylurea treatment of a neonate with neonatal diabetes mellitus due to a novel missense mutation, p.P1199L, in the ABCC8 gene.
- Published in:
- Journal of Perinatology, 2012, v. 32, n. 8, p. 645, doi. 10.1038/jp.2012.46
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- Publication type:
- Article
A pathway to insulin independence in newborns and infants with diabetes.
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- Journal of Perinatology, 2011, v. 31, n. 8, p. 567, doi. 10.1038/jp.2011.4
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- Publication type:
- Article
Fetal genotype is the primary determinant of fetal growth in gestational diabetes due to a mutation in the maternal glucokinase gene.
- Published in:
- International Journal of Gynecology & Obstetrics, 2000, v. 70, p. B29, doi. 10.1016/S0020-7292(00)86176-7
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- Publication type:
- Article
Type 1 Diabetes Genetic Risk Score: A Novel Tool to Discriminate Monogenic and Type 1 Diabetes.
- Published in:
- 2016
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- Publication type:
- journal article
Severe insulin resistance and intrauterine growth deficiency associated with haploinsufficiency for INSR and CHN2: new insights into synergistic pathways involved in growth and metabolism.
- Published in:
- 2009
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- Publication type:
- journal article
Identification of a novel beta-cell glucokinase (GCK) promoter mutation (-71G>C) that modulates GCK gene expression through loss of allele-specific Sp1 binding causing mild fasting hyperglycemia in humans.
- Published in:
- 2009
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- Publication type:
- journal article
Diabetes susceptibility in the Canadian Oji-Cree population is moderated by abnormal mRNA processing of HNF1A G319S transcripts.
- Published in:
- 2008
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- Publication type:
- journal article
Mosaic paternal uniparental isodisomy and an ABCC8 gene mutation in a patient with permanent neonatal diabetes and hemihypertrophy.
- Published in:
- 2008
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- Publication type:
- journal article
Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood.
- Published in:
- 2007
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- Publication type:
- journal article
Unrecognized Maturity-Onset Diabetes of the Young (MODY) due to HNF1α Mutations in the SEARCH for Diabetes in Youth Study.
- Published in:
- Diabetes, 2007, v. 56, p. A74
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- Publication type:
- Article
Heterogeneity in young adult onset diabetes: aetiology alters clinical characteristics.
- Published in:
- Diabetic Medicine, 2002, v. 19, n. 9, p. 758, doi. 10.1046/j.1464-5491.2002.00766.x
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- Publication type:
- Article
Glucokinase mutations in a phenotypically selected multiethnic group of women with a history of gestational diabetes.
- Published in:
- Diabetic Medicine, 2001, v. 18, n. 8, p. 683, doi. 10.1046/j.1464-5491.2001.00530.x
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- Publication type:
- Article
Predictive genetic testing in maturity-onset diabetes of the young (MODY)
- Published in:
- 2001
- By:
- Publication type:
- Journal Article