Lucia Valentinova

Bratislava, BL, Slovakia

Last Updated: 09/26/2026

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Found 8 publications

Two novel RFX6 variants in siblings with Mitchell-Riley syndrome with later diabetes onset and heterotopic gastric mucosa.

Two novel RFX6 variants in siblings with Mitchell-Riley syndrome with later diabetes onset and heterotopic gastric mucosa.

Journal: European journal of medical genetics
Published: April 06, 2016

Melanocortin-4 receptor gene mutations in obese Slovak children.

Melanocortin-4 receptor gene mutations in obese Slovak children.

Journal: Physiological research
Published: June 06, 2015

De novo mutations of GCK, HNF1A and HNF4A may be more frequent in MODY than previously assumed.

De novo mutations of GCK, HNF1A and HNF4A may be more frequent in MODY than previously assumed.

Journal: Diabetologia
Published: August 23, 2013

Molecular and hereditary mechanisms of sensorineural hearing loss with focus on selected endocrinopathies.

Molecular and hereditary mechanisms of sensorineural hearing loss with focus on selected endocrinopathies.

Journal: Endocrine regulations
Published: July 20, 2012

Insights into the pathogenicity of rare missense GCK variants from the identification and functional characterization of compound heterozygous and double mutations inherited in cis.

Insights into the pathogenicity of rare missense GCK variants from the identification and functional characterization of compound heterozygous and double mutations inherited in cis.

Journal: Diabetes care
Published: May 22, 2012

Impact of Type 2 diabetes on Glucokinase diabetes (GCK-MODY) phenotype in a Roma (Gypsy) family - case report.

Impact of Type 2 diabetes on Glucokinase diabetes (GCK-MODY) phenotype in a Roma (Gypsy) family - case report.

Journal: Endocrine regulations
Published: May 01, 2012

Identification and functional characterisation of novel glucokinase mutations causing maturity-onset diabetes of the young in Slovakia.

Identification and functional characterisation of novel glucokinase mutations causing maturity-onset diabetes of the young in Slovakia.

Journal: PloS one
Published: December 22, 2011

Genetics of monogenic forms of diabetes

Genetics of monogenic forms of diabetes

Journal: Vnitrni lekarstvi
Published: December 15, 2011
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Last Updated: 09/26/2026