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Your search keyword '"mody"' showing total 11 results

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11 results on '"mody"'

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1. Identification of Variants Responsible for Monogenic Forms of Diabetes in Brazil.

2. Clinical screening for GCK-MODY in 2,989 patients from the Brazilian Monogenic Diabetes Study Group (BRASMOD) and the Brazilian Type 1 Diabetes Study Group (BrazDiab1SG).

3. Identification of the First PAX4-MODY Family Reported in Brazil.

4. Maturity-onset diabetes of the young (MODY) in Brazil: Establishment of a national registry and appraisal of available genetic and clinical data.

5. Unexpected finding of a whole HNF1B gene deletion during the screening of rare MODY types in a series of Brazilian patients negative for GCK and HNF1A mutations.

6. PDX1-MODY: A rare missense mutation as a cause of monogenic diabetes.

7. Targeted sequencing identifies novel variants in common and rare MODY genes.

8. The first case of NEUROD1-MODY reported in Latin America.

9. PDX1 -MODY and dorsal pancreatic agenesis: New phenotype of a rare disease.

10. Clinical application of ACMG-AMP guidelines in HNF1A and GCK variants in a cohort of MODY families.

11. A novel glucokinase deletion (p.Lys32del) and five previously described mutations co-segregate with the phenotype of mild familial hyperglycaemia (MODY2) in Brazilian families.

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