Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 MODY patients carrying mutation in syndromic diabetes genes. An Italian single-center experience.

Literature DB >> 36227502

MODY patients carrying mutation in syndromic diabetes genes. An Italian single-center experience.

Antonella Marucci¹, Rosa Di Paola², Irene Rutigliano³, Grazia Fini², Serena Pezzilli⁴, Claudia Menzaghi², Vincenzo Trischitta^5,6.

Abstract

Entities: Chemical

Keywords: Clinical evaluation before genetic testing; Mitochondrial m.3243A > G mutation; Next generation sequencing; Precision diagnosis of monogenic diabetes

Year: 2022 PMID： 36227502 DOI： 10.1007/s00592-022-01982-0

Source DB: PubMed Journal: Acta Diabetol ISSN： 0940-5429 Impact factor: 4.087

Keyword Cloud
References

× No keyword cloud information.

1 in total

Review 1. Update of variants identified in the pancreatic β-cell K_ATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes.

Authors: Elisa De Franco; Cécile Saint-Martin; Klaus Brusgaard; Amy E Knight Johnson; Lydia Aguilar-Bryan; Pamela Bowman; Jean-Baptiste Arnoux; Annette Rønholt Larsen; May Sanyoura; Siri Atma W Greeley; Raúl Calzada-León; Bradley Harman; Jayne A L Houghton; Elisa Nishimura-Meguro; Thomas W Laver; Sian Ellard; Daniela Del Gaudio; Henrik Thybo Christesen; Christine Bellanné-Chantelot; Sarah E Flanagan
Journal: Hum Mutat Date: 2020-02-17 Impact factor: 4.878

1 in total

MODY patients carrying mutation in syndromic diabetes genes. An Italian single-center experience.

Review 1. Update of variants identified in the pancreatic β-cell KATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes.

Review 1. Update of variants identified in the pancreatic β-cell K_ATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes.