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Bell, Graeme

One or more keywords matched the following items that are connected to Bell, Graeme

Item Type	Name
Concept	Pedigree
Academic Article	Candidate gene studies in pedigrees with maturity-onset diabetes of the young not linked with glucokinase.
Academic Article	Linkage and association studies in insulin-dependent diabetes with a new dinucleotide repeat polymorphism at the GAD65 locus.
Academic Article	The aggregation of the 5' insulin gene polymorphism in insulin dependent (type I) diabetes mellitus families.
Academic Article	Novel MODY3 mutations in the hepatocyte nuclear factor-1alpha gene: evidence for a hyperexcitability of pancreatic beta-cells to intravenous secretagogues in a glucose-tolerant carrier of a P447L mutation.
Academic Article	Mutations in the hepatocyte nuclear factor-1alpha gene in maturity-onset diabetes of the young (MODY3)
Academic Article	Mutations in the hepatocyte nuclear factor-4alpha gene in maturity-onset diabetes of the young (MODY1)
Academic Article	Detection of a polymorphism within the pepsinogen C gene with PCR: construction of a linkage map around PGC from 6p11-6p21.3.
Academic Article	Mutations in the hepatocyte nuclear factor-1alpha gene in MODY and early-onset NIDDM: evidence for a mutational hotspot in exon 4.
Academic Article	Molecular analysis of the fructose transporter gene (GLUT5) in isolated fructose malabsorption.
Academic Article	MODY: a model for the study of the molecular genetics of NIDDM.
Academic Article	Altered insulin secretory responses to glucose in diabetic and nondiabetic subjects with mutations in the diabetes susceptibility gene MODY3 on chromosome 12.
Academic Article	Mutations in the hepatocyte nuclear factor-1alpha/MODY3 gene in Japanese subjects with early- and late-onset NIDDM.
Academic Article	Identification of nine novel mutations in the hepatocyte nuclear factor 1 alpha gene associated with maturity-onset diabetes of the young (MODY3).
Academic Article	Maturity onset diabetes of the young (MODY).
Academic Article	Nonsense mutation in the glucokinase gene causes early-onset non-insulin-dependent diabetes mellitus.
Academic Article	Nature or nurture: an insightful illustration from a Chinese family with hepatocyte nuclear factor-1 alpha diabetes (MODY3)
Academic Article	Abnormal nephron development associated with a frameshift mutation in the transcription factor hepatocyte nuclear factor-1 beta.
Academic Article	Linkage analysis of maturity-onset diabetes of the young with microsatellite polymorphisms. No linkage to ADA or GLUT2 genes in two families.
Academic Article	A simple test for the high-frequency P291fsinsC mutation in the HNF1 alpha/MODY3 gene.
Academic Article	Neonatal diabetes mellitus due to complete glucokinase deficiency.
Academic Article	Phenotypic heterogeneity between different mutations of MODY subtypes and within MODY pedigrees.
Academic Article	Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy.
Academic Article	Confirmed locus on chromosome 11p and candidate loci on 6q and 8p for the triglyceride and cholesterol traits of combined hyperlipidemia.
Academic Article	Insulin gene mutations as a cause of permanent neonatal diabetes.
Academic Article	Macrosomia and neonatal hypoglycaemia in RW pedigree subjects with a mutation (Q268X) in the gene encoding hepatocyte nuclear factor 4alpha (HNF4A).
Academic Article	Diagnosis and treatment of neonatal diabetes: a United States experience.
Academic Article	Obesity and hyperinsulinemia in a family with pancreatic agenesis and MODY caused by the IPF1 mutation Pro63fsX60.
Academic Article	Characterization of Japanese families with early-onset type 2 (non-insulin dependent) diabetes mellitus and screening for mutations in the glucokinase and mitochondrial tRNA(Leu(UUR)) genes.
Academic Article	Identification of two novel amino acid polymorphisms in beta-cell/liver (GLUT2) glucose transporter in Japanese subjects.
Academic Article	Compensation in pancreatic beta-cell function in subjects with glucokinase mutations.
Academic Article	No evidence for mutations in a putative beta-cell ATP-sensitive K+ channel subunit in MODY, NIDDM, or GDM.
Academic Article	Clinical characteristics of subjects with a missense mutation in glucokinase.
Academic Article	Linkage of Rieger syndrome to the region of the epidermal growth factor gene on chromosome 4.
Academic Article	Maturity-onset diabetes of the young.
Academic Article	A yeast artificial chromosome-based map of the region of chromosome 20 containing the diabetes-susceptibility gene, MODY1, and a myeloid leukemia related gene.
Academic Article	Exome sequencing and genetic testing for MODY.
Academic Article	Identification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY-2 families.
Academic Article	Mutations in the hepatocyte nuclear factor-1alpha gene are a common cause of maturity-onset diabetes of the young in the U.K.
Academic Article	Missense glucokinase mutation in maturity-onset diabetes of the young and mutation screening in late-onset diabetes.
Academic Article	Mapping diabetes-susceptibility genes. Lessons learned from search for DNA marker for maturity-onset diabetes of the young.
Academic Article	Locus on chromosome 6p linked to elevated HDL cholesterol serum levels and to protection against premature atherosclerosis in a kindred with familial hypercholesterolemia.
Academic Article	Insulin promoter factor-1 mutations and diabetes in Trinidad: identification of a novel diabetes-associated mutation (E224K) in an Indo-Trinidadian family.
Academic Article	Abnormal insulin secretion, not insulin resistance, is the genetic or primary defect of MODY in the RW pedigree.
Academic Article	Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes.
Academic Article	Type 2 (non-insulin-dependent) diabetes mellitus associated with a mutation of the glucokinase gene in a Japanese family.
Academic Article	Evaluating the contribution of rare variants to type 2 diabetes and related traits using pedigrees.

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Pedigree