Siri Atma W. Greeley to Mutation
This is a "connection" page, showing publications Siri Atma W. Greeley has written about Mutation.
Connection Strength
1.956
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Preservation of Reduced Numbers of Insulin-Positive Cells in Sulfonylurea-Unresponsive KCNJ11-Related Diabetes. J Clin Endocrinol Metab. 2017 01 01; 102(1):1-5.
Score: 0.266
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Continued lessons from the INS gene: an intronic mutation causing diabetes through a novel mechanism. J Med Genet. 2015 Sep; 52(9):612-6.
Score: 0.239
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Successful transition from insulin to sulfonylurea therapy in a patient with monogenic neonatal diabetes owing to a KCNJ11 F333L [corrected] mutation. Diabetes Care. 2013 Dec; 36(12):e201.
Score: 0.215
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ISPAD Clinical Practice Consensus Guidelines 2022: The diagnosis and management of monogenic diabetes in children and adolescents. Pediatr Diabetes. 2022 12; 23(8):1188-1211.
Score: 0.100
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Growth and development in monogenic forms of neonatal diabetes. Curr Opin Endocrinol Diabetes Obes. 2022 02 01; 29(1):65-77.
Score: 0.095
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Update of variants identified in the pancreatic ß-cell KATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes. Hum Mutat. 2020 05; 41(5):884-905.
Score: 0.083
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Precision Medicine: Long-Term Treatment with Sulfonylureas in Patients with Neonatal Diabetes Due to KCNJ11 Mutations. Curr Diab Rep. 2019 06 27; 19(8):52.
Score: 0.079
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Congenital Diabetes: Comprehensive Genetic Testing Allows for Improved Diagnosis and Treatment of Diabetes and Other Associated Features. Curr Diab Rep. 2018 06 13; 18(7):46.
Score: 0.074
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Precision medicine in KCNJ11 permanent neonatal diabetes. Lancet Diabetes Endocrinol. 2018 08; 6(8):594-595.
Score: 0.073
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Congenital forms of diabetes: the beta-cell and beyond. Curr Opin Genet Dev. 2018 06; 50:25-34.
Score: 0.072
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Neonatal Diabetes Mellitus: An Update on Diagnosis and Management. Clin Perinatol. 2018 03; 45(1):41-59.
Score: 0.071
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ADHD, learning difficulties and sleep disturbances associated with KCNJ11-related neonatal diabetes. Pediatr Diabetes. 2017 Nov; 18(7):518-523.
Score: 0.065
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Successful rhIGF1 treatment for over 5 years in a patient with severe insulin resistance due to homozygous insulin receptor mutation. Diabet Med. 2016 Mar; 33(3):e8-e12.
Score: 0.063
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An online monogenic diabetes discussion group: supporting families and fueling new research. Transl Res. 2015 Nov; 166(5):425-31.
Score: 0.060
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Phenotypic heterogeneity in monogenic diabetes: the clinical and diagnostic utility of a gene panel-based next-generation sequencing approach. Mol Genet Metab. 2014 Dec; 113(4):315-320.
Score: 0.057
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Gain-of-function mutations in the K(ATP) channel (KCNJ11) impair coordinated hand-eye tracking. PLoS One. 2013; 8(4):e62646.
Score: 0.051
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Neonatal diabetes: an expanding list of genes allows for improved diagnosis and treatment. Curr Diab Rep. 2011 Dec; 11(6):519-32.
Score: 0.047
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Update in neonatal diabetes. Curr Opin Endocrinol Diabetes Obes. 2010 Feb; 17(1):13-9.
Score: 0.041
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A loss-of-function mutation in KCNJ11 causing sulfonylurea-sensitive diabetes in early adult life. Diabetologia. 2024 May; 67(5):940-951.
Score: 0.027
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Insulin Deficiency From Insulin Gene Mutation Leads to Smaller Pancreas. Diabetes Care. 2023 04 01; 46(4):773-776.
Score: 0.026
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Novel compound heterozygous LRBA deletions in a 6-month-old with neonatal diabetes. Diabetes Res Clin Pract. 2021 May; 175:108798.
Score: 0.022
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Long-term Follow-up of Glycemic and Neurological Outcomes in an International Series of Patients With Sulfonylurea-Treated ABCC8 Permanent Neonatal Diabetes. Diabetes Care. 2021 01; 44(1):35-42.
Score: 0.022
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Trisomy 21 Is a Cause of Permanent Neonatal Diabetes That Is Autoimmune but Not HLA Associated. Diabetes. 2019 07; 68(7):1528-1535.
Score: 0.019
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Management and pregnancy outcomes of women with GCK-MODY enrolled in the US Monogenic Diabetes Registry. Acta Diabetol. 2019 Apr; 56(4):405-411.
Score: 0.019
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Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 9 affected individuals. Genet Med. 2019 01; 21(1):233-242.
Score: 0.018
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GCK-MODY in the US National Monogenic Diabetes Registry: frequently misdiagnosed and unnecessarily treated. Acta Diabetol. 2016 Oct; 53(5):703-8.
Score: 0.016
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Age at the time of sulfonylurea initiation influences treatment outcomes in KCNJ11-related neonatal diabetes. Diabetologia. 2015 Jul; 58(7):1430-5.
Score: 0.015
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Visuomotor performance in KCNJ11-related neonatal diabetes is impaired in children with DEND-associated mutations and may be improved by early treatment with sulfonylureas. Diabetes Care. 2012 Oct; 35(10):2086-8.
Score: 0.012
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Tooth discoloration in patients with neonatal diabetes after transfer onto glibenclamide: a previously unreported side effect. Diabetes Care. 2009 Aug; 32(8):1428-30.
Score: 0.010