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Genetic testing for maturity onset diabetes of the young: uptake, attitudes and comparison with hereditary non-polyposis colorectal cancer.
Liljeström B, Aktan-Collan K, Isomaa B, Sarelin L, Uutela A, Groop L, Kääriäinen H, Tuomi T. Liljeström B, et al. Diabetologia. 2005 Feb;48(2):242-50. doi: 10.1007/s00125-004-1629-7. Epub 2005 Jan 20. Diabetologia. 2005. PMID: 15660263 Free article.
AIMS/HYPOTHESIS: Mutations in hepatic nuclear factor 1alpha cause a monogenic form of diabetes, maturity onset diabetes of the young type 3 (MODY3). Our aim was (1) to assess the uptake of genetic testing for MODY3 and to determine …
AIMS/HYPOTHESIS: Mutations in hepatic nuclear factor 1alpha cause a monogenic form of diabetes, maturity onset diabe
Clinical characteristics and diagnostic criteria of maturity-onset diabetes of the young (MODY) due to molecular anomalies of the HNF1A gene.
Bellanné-Chantelot C, Lévy DJ, Carette C, Saint-Martin C, Riveline JP, Larger E, Valéro R, Gautier JF, Reznik Y, Sola A, Hartemann A, Laboureau-Soares S, Laloi-Michelin M, Lecomte P, Chaillous L, Dubois-Laforgue D, Timsit J; French Monogenic Diabetes Study Group. Bellanné-Chantelot C, et al. J Clin Endocrinol Metab. 2011 Aug;96(8):E1346-51. doi: 10.1210/jc.2011-0268. Epub 2011 Jun 15. J Clin Endocrinol Metab. 2011. PMID: 21677039 Free article.
CONTEXT: The diagnosis of maturity-onset diabetes of the young type 3 (MODY3), associated with HNF1A molecular abnormalities, is often missed. ...When sensitivity was set to 90%, specificity was 49%. CONCLUSIONS: Differential diagnosis be …
CONTEXT: The diagnosis of maturity-onset diabetes of the young type 3 (MODY3), associated with HNF …