Graeme Bell to Pedigree
This is a "connection" page, showing publications Graeme Bell has written about Pedigree.
Connection Strength
0.906
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Macrosomia and neonatal hypoglycaemia in RW pedigree subjects with a mutation (Q268X) in the gene encoding hepatocyte nuclear factor 4alpha (HNF4A). Diabetologia. 2007 Dec; 50(12):2600-1.
Score: 0.251
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Phenotypic heterogeneity between different mutations of MODY subtypes and within MODY pedigrees. Diabetologia. 2006 May; 49(5):1106-8.
Score: 0.056
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Insulin promoter factor-1 mutations and diabetes in Trinidad: identification of a novel diabetes-associated mutation (E224K) in an Indo-Trinidadian family. J Clin Endocrinol Metab. 2004 Feb; 89(2):971-8.
Score: 0.049
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A simple test for the high-frequency P291fsinsC mutation in the HNF1 alpha/MODY3 gene. Diabetologia. 2000 Jun; 43(6):818-9.
Score: 0.038
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Evaluating the contribution of rare variants to type 2 diabetes and related traits using pedigrees. Proc Natl Acad Sci U S A. 2018 01 09; 115(2):379-384.
Score: 0.032
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Mutations in the hepatocyte nuclear factor-1alpha/MODY3 gene in Japanese subjects with early- and late-onset NIDDM. Diabetes. 1997 Sep; 46(9):1504-8.
Score: 0.031
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Mutations in the hepatocyte nuclear factor-1alpha gene in MODY and early-onset NIDDM: evidence for a mutational hotspot in exon 4. Diabetes. 1997 Mar; 46(3):528-35.
Score: 0.030
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Mutations in the hepatocyte nuclear factor-1alpha gene in maturity-onset diabetes of the young (MODY3) Nature. 1996 Dec 05; 384(6608):455-8.
Score: 0.030
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Mutations in the hepatocyte nuclear factor-4alpha gene in maturity-onset diabetes of the young (MODY1) Nature. 1996 Dec 05; 384(6608):458-60.
Score: 0.030
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A yeast artificial chromosome-based map of the region of chromosome 20 containing the diabetes-susceptibility gene, MODY1, and a myeloid leukemia related gene. Proc Natl Acad Sci U S A. 1996 Apr 30; 93(9):3937-41.
Score: 0.029
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Exome sequencing and genetic testing for MODY. PLoS One. 2012; 7(5):e38050.
Score: 0.022
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Mapping diabetes-susceptibility genes. Lessons learned from search for DNA marker for maturity-onset diabetes of the young. Diabetes. 1992 Apr; 41(4):401-7.
Score: 0.021
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Obesity and hyperinsulinemia in a family with pancreatic agenesis and MODY caused by the IPF1 mutation Pro63fsX60. Transl Res. 2010 Jul; 156(1):7-14.
Score: 0.019
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Diagnosis and treatment of neonatal diabetes: a United States experience. Pediatr Diabetes. 2008 Oct; 9(5):450-9.
Score: 0.017
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Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes. Diabetes. 2008 Apr; 57(4):1131-5.
Score: 0.016
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Insulin gene mutations as a cause of permanent neonatal diabetes. Proc Natl Acad Sci U S A. 2007 Sep 18; 104(38):15040-4.
Score: 0.016
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Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy. Diabetes. 2004 Oct; 53(10):2713-8.
Score: 0.013
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Confirmed locus on chromosome 11p and candidate loci on 6q and 8p for the triglyceride and cholesterol traits of combined hyperlipidemia. Arterioscler Thromb Vasc Biol. 2003 Nov 01; 23(11):2070-7.
Score: 0.012
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Locus on chromosome 6p linked to elevated HDL cholesterol serum levels and to protection against premature atherosclerosis in a kindred with familial hypercholesterolemia. Circ Res. 2003 Mar 21; 92(5):569-76.
Score: 0.011
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Neonatal diabetes mellitus due to complete glucokinase deficiency. N Engl J Med. 2001 May 24; 344(21):1588-92.
Score: 0.010
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Nature or nurture: an insightful illustration from a Chinese family with hepatocyte nuclear factor-1 alpha diabetes (MODY3) Diabetologia. 2000 Jun; 43(6):816-8.
Score: 0.009
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Abnormal nephron development associated with a frameshift mutation in the transcription factor hepatocyte nuclear factor-1 beta. Kidney Int. 2000 Mar; 57(3):898-907.
Score: 0.009
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Mutations in the hepatocyte nuclear factor-1alpha gene are a common cause of maturity-onset diabetes of the young in the U.K. Diabetes. 1997 Apr; 46(4):720-5.
Score: 0.008
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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. Diabetes. 1997 Apr; 46(4):726-30.
Score: 0.008
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Identification of nine novel mutations in the hepatocyte nuclear factor 1 alpha gene associated with maturity-onset diabetes of the young (MODY3). Hum Mol Genet. 1997 Apr; 6(4):583-6.
Score: 0.008
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Identification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY-2 families. Diabetologia. 1997 Feb; 40(2):217-24.
Score: 0.008
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Molecular analysis of the fructose transporter gene (GLUT5) in isolated fructose malabsorption. J Clin Invest. 1996 Nov 15; 98(10):2398-402.
Score: 0.007
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Altered insulin secretory responses to glucose in diabetic and nondiabetic subjects with mutations in the diabetes susceptibility gene MODY3 on chromosome 12. Diabetes. 1996 Nov; 45(11):1503-10.
Score: 0.007
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Maturity onset diabetes of the young (MODY). Diabet Med. 1996 Sep; 13(9 Suppl 6):S90-5.
Score: 0.007
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Candidate gene studies in pedigrees with maturity-onset diabetes of the young not linked with glucokinase. Diabetologia. 1995 Sep; 38(9):1055-60.
Score: 0.007
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No evidence for mutations in a putative beta-cell ATP-sensitive K+ channel subunit in MODY, NIDDM, or GDM. Diabetes. 1995 May; 44(5):597-600.
Score: 0.007
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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. Acta Diabetol. 1995 Mar; 32(1):17-22.
Score: 0.007
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Clinical characteristics of subjects with a missense mutation in glucokinase. Diabet Med. 1995 Mar; 12(3):209-17.
Score: 0.007
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Identification of two novel amino acid polymorphisms in beta-cell/liver (GLUT2) glucose transporter in Japanese subjects. Diabetologia. 1995 Feb; 38(2):211-5.
Score: 0.007
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Linkage and association studies in insulin-dependent diabetes with a new dinucleotide repeat polymorphism at the GAD65 locus. Autoimmunity. 1995; 21(2):127-30.
Score: 0.007
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Compensation in pancreatic beta-cell function in subjects with glucokinase mutations. Diabetes. 1994 May; 43(5):718-23.
Score: 0.006
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Maturity-onset diabetes of the young. Life Sci. 1994; 55(6):413-22.
Score: 0.006
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Abnormal insulin secretion, not insulin resistance, is the genetic or primary defect of MODY in the RW pedigree. Diabetes. 1994 Jan; 43(1):40-6.
Score: 0.006
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Type 2 (non-insulin-dependent) diabetes mellitus associated with a mutation of the glucokinase gene in a Japanese family. Diabetologia. 1993 May; 36(5):433-7.
Score: 0.006
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Missense glucokinase mutation in maturity-onset diabetes of the young and mutation screening in late-onset diabetes. Nat Genet. 1992 Oct; 2(2):153-6.
Score: 0.006
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Detection of a polymorphism within the pepsinogen C gene with PCR: construction of a linkage map around PGC from 6p11-6p21.3. Genomics. 1992 Oct; 14(2):398-402.
Score: 0.006
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Linkage of Rieger syndrome to the region of the epidermal growth factor gene on chromosome 4. Nat Genet. 1992 Sep; 2(1):46-9.
Score: 0.006
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Linkage analysis of maturity-onset diabetes of the young with microsatellite polymorphisms. No linkage to ADA or GLUT2 genes in two families. Diabetes. 1992 Aug; 41(8):962-7.
Score: 0.005
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The aggregation of the 5' insulin gene polymorphism in insulin dependent (type I) diabetes mellitus families. J Med Genet. 1992 Jul; 29(7):447-50.
Score: 0.005
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Nonsense mutation in the glucokinase gene causes early-onset non-insulin-dependent diabetes mellitus. Nature. 1992 Apr 23; 356(6371):721-2.
Score: 0.005
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MODY: a model for the study of the molecular genetics of NIDDM. J Lab Clin Med. 1992 Mar; 119(3):206-10.
Score: 0.005