Search Results - "Fajans, Stefan S"

Molecular Mechanisms and Clinical Pathophysiology of Maturity-Onset Diabetes of the Young by Fajans, Stefan S, Bell, Graeme I, Polonsky, Kenneth S

“…Maturity-onset diabetes of the young (MODY) is a clinically heterogeneous group of disorders characterized by nonketotic diabetes mellitus, an autosomal…”
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MODY: History, genetics, pathophysiology, and clinical decision making by FAJANS, Stefan S, BELL, Graeme I

“…Starting with known diabetic patients from the Diabetes Clinic, I recruited their apparently healthy and asymptomatic first-degree relatives (parents,…”
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Insufficient sensitivity of hemoglobin A1C determination in diagnosis or screening of early diabetic states by Fajans, Stefan S, Herman, William H, Oral, Elif A

“…Abstract An International Expert Committee made recommendations for using the hemoglobin A1C (A1C) assay as the preferred method for the diagnosis of diabetes…”
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Scope and heterogeneous nature of MODY by Fajans, S S

“…Scope and heterogeneous nature of MODY. S S Fajans Department of Internal Medicine, University of Michigan Medical Center, Ann Arbor. Abstract This review…”
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Hemoglobin A1c for the diagnosis of diabetes: practical considerations by Herman, William H, Fajans, Stefan S

“…The International Expert Committee recommends that the diagnosis of diabetes be made if hemo globin A1c (HbA1c) level is greater, similar 6.5% and confirmed…”
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Regulation of apolipoprotein M gene expression by MODY3 gene hepatocyte nuclear factor-1α: Haploinsufficiency is associated with reduced serum apolipoprotein M levels by RICHTER, Symi, SHIH, David Q, PEARSON, Ewan R, WOLFRUM, Christian, FAJANS, Stefan S, HATTERSLEY, Andrew T, STOFFEL, Markus

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Mutations in the hepatocyte nuclear factor-4α gene in maturity-onset diabetes of the young (MODY1) by Yamagata, Kazuya, Furuta, Hiroto, Oda, Naohisa, Kaisaki, Pamela J, Menzel, Stephan, Cox, Nancy J, Fajans, Stefan S, Signorini, Stefano, Stoffel, Markus, Bell, Graeme I

“…The disease maturity-onset diabetes of young (MODY) is a genetically heterogeneous monogenic form of non-insulin-dependent (type 2) diabetes mellitus (NIDDM),…”
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Neonatal diabetes mellitus with pancreatic agenesis in an infant with homozygous IPF-1 Pro63fsX60 mutation by Thomas, Inas H, Saini, Natinder K, Adhikari, Amita, Lee, Joyce M, Kasa-vubu, Josephine Z, Vazquez, Delia M, Menon, Ram K, Chen, Ming, Fajans, Stefan S

“…Permanent neonatal diabetes mellitus is a rare disorder known to be caused by activating mutations in KCNJ11 or ABCC8, inactivating mutations in INS, or very…”
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Obesity and hyperinsulinemia in a family with pancreatic agenesis and MODY caused by the IPF1 mutation Pro63fsX60 by Fajans, Stefan S, Bell, Graeme I, Paz, Veronica P, Below, Jennifer E, Cox, Nancy J, Martin, Catherine, Thomas, Inas H, Chen, Ming

“…We studied the genetic and clinical features of diabetic subjects in a 5-generation Michigan–Kentucky pedigree ascertained through a proband with pancreatic…”
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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 by BYRNE, M. M, STURIS, J, BELL, G. I, POLONSKY, K. S, MENZEL, S, YAMAGATA, K, FAJANS, S. S, DRONSFIELD, M. J, BAIN, S. C, HATTERSLEY, A. T, VELHO, G, FROGUEL, P

“…One form of maturity-onset diabetes of the young (MODY) results from mutations in a gene, designated MODY3, located on chromosome 12 in band q24. The present…”
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Altered insulin secretory responses to glucose in subjects with a mutation in the MODY1 gene on chromosome 20 by BYRNE, M. M, STURIS, J, FAJANS, S. S, ORTIZ, F. J, STOLZ, A, STOFFEL, M, SMITH, M. J, BELL, G. I, HALTER, J. B, POLONSKY, K. S

“…This study was undertaken to test the hypothesis that the diabetes susceptibility gene on chromosome 20q12 responsible for maturity-onset diabetes of the young…”
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Diminished insulin and glucagon secretory responses to arginine in nondiabetic subjects with a mutation in the hepatocyte nuclear factor-4α/MODY1 gene by HERMAN, W. H, FAJANS, S. S, SMITH, M. J, POLONSKY, K. S, BELL, G. I, HALTER, J. B

“…Nondiabetic subjects with the Q268X mutation in the hepatocyte nuclear factor (HNF)-4α/MODY1 gene have impaired glucose-induced insulin secretion. To ascertain…”
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Regulation of Apolipoprotein M Gene Expression by MODY3 Gene Hepatocyte Nuclear Factor-1α by Richter, Symi, Shih, David Q., Pearson, Ewan R., Wolfrum, Christian, Fajans, Stefan S., Hattersley, Andrew T., Stoffel, Markus

“…Regulation of Apolipoprotein M Gene Expression by MODY3 Gene Hepatocyte Nuclear Factor-1α Haploinsufficiency Is Associated With Reduced Serum Apolipoprotein M…”
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Administration of sulfonylureas can increase glucose-induced insulin secretion for decades in patients with maturity-onset diabetes of the young by FAJANS, S. S, BROWN, M. B

“…Administration of sulfonylureas can increase glucose-induced insulin secretion for decades in patients with maturity-onset diabetes of the young. S S Fajans…”
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Abnormal insulin secretion, not insulin resistance, is the genetic or primary defect of MODY in the RW pedigree by HERMAN, W. H, FAJANS, S. S, ORTIZ, F. J, SMITH, M. J, STURIS, J, BELL, G. I, POLONSKY, K. S, HALTER, J. B

“…Maturity-onset diabetes of the young (MODY) is a form of non-insulin-dependent diabetes mellitus (NIDDM) associated with autosomal-dominant inheritance. In the…”
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Heterogeneity of NIDDM by FAJANS, STEFAN S.

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Localization of MODY3 to a 5-cM region of human chromosome 12 by MENZEL, S, YAMAGATA, K, BELL, G. I, TRABB, J. B, NERUP, J, PERMUTT, M. A, FAJANS, S. S, MENZEL, R, IWASAKI, N, OMORI, Y, COX, N. J

“…Maturity-onset diabetes of the young (MODY) is a heterogeneous disorder that appears to be characterized by a primary defect in insulin secretion. Mutations in…”
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MODY by Fajans, Stefan S., Bell, Graeme I.

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Identification of genetic markers flanking the locus for maturity-onset diabetes of the young on human chromosome 20 by BOWDEN, D. W, GRAVIUS, T. C, AKOTS, G, FAJANS, S. S

“…A systematic search for genetic linkage with maturity-onset diabetes of the young (MODY) as expressed in the R.-W. pedigree has been carried out. Evidence for…”
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Mapping diabetes-susceptibility genes lessons learned from search for DNA marker for maturity-onset diabetes of the young by COX, N. J, KUN-SAN XIANG, FAJANS, S. S, BELL, G. I

“…During our search for a marker for non-insulin-dependent diabetes mellitus (NIDDM) in a large multigenerational family with a form of NIDDM termed…”
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