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Search for a time- and cost-saving genetic testing strategy for maturity-onset diabetes of the young.
- Published in:
- Acta Diabetologica, 2022, v. 59, n. 9, p. 1169, doi. 10.1007/s00592-022-01915-x
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- Article
Genetic Testing of Children With Familial Tall Stature: Is it Worth Doing?
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- Journal of Clinical Endocrinology & Metabolism, 2024, v. 109, n. 11, p. e2009, doi. 10.1210/clinem/dgae067
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- Publication type:
- Article
Two New Mutations in the CEL Gene Causing Diabetes and Hereditary Pancreatitis: How to Correctly Identify MODY8 Cases.
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- Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 4, p. e1455, doi. 10.1210/clinem/dgab864
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- Publication type:
- Article
Response to Letter to the Editor from Youn Hee Jee: "Familial Short Stature - A Novel Phenotype of Growth Plate Collagenopathies".
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- Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 1, p. e445, doi. 10.1210/clinem/dgab665
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- Article
Familial Short Stature-A Novel Phenotype of Growth Plate Collagenopathies.
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- 2021
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- Publication type:
- journal article
Functional Analyses of HNF1A-MODY Variants Refine the Interpretation of Identified Sequence Variants.
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- 2020
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- journal article
NPR2 Variants Are Frequent among Children with Familiar Short Stature and Respond Well to Growth Hormone Therapy.
- Published in:
- 2020
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- Publication type:
- journal article
High Incidence of Heterozygous ABCC8 and HNF1A Mutations in Czech Patients With Congenital Hyperinsulinism.
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- 2015
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- journal article
High prevalence of PROP1 defects in Lithuania: phenotypic findings in an ethnically homogenous cohort of patients with multiple pituitary hormone deficiency.
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- 2014
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- journal article
Paediatric diabetes subtypes in a consanguineous population: a single-centre cohort study from Kurdistan, Iraq.
- Published in:
- Diabetologia, 2024, v. 67, n. 1, p. 113, doi. 10.1007/s00125-023-06030-2
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- Article
Association of birthweight and penetrance of diabetes in individuals with HNF4A-MODY: a cohort study.
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- Diabetologia, 2022, v. 65, n. 1, p. 246, doi. 10.1007/s00125-021-05581-6
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- Article
De novo mutations of GCK, HNF1A and HNF4A may be more frequent in MODY than previously assumed.
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- Diabetologia, 2014, v. 57, n. 3, p. 480, doi. 10.1007/s00125-013-3119-2
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- Article
SALL4 Phenotype in Four Generations of One Family: An Interplay of the Upper Limb, Kidneys, and the Pituitary.
- Published in:
- Hormone Research in Paediatrics, 2024, v. 97, n. 2, p. 203, doi. 10.1159/000531996
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- Publication type:
- Article
Integrative Role of the SALL4 Gene: From Thalidomide Embryopathy to Genetic Defects of the Upper Limb, Internal Organs, Cerebral Midline, and Pituitary.
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- Hormone Research in Paediatrics, 2024, v. 97, n. 2, p. 106, doi. 10.1159/000531452
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- Article
The Genetic Landscape of Children Born Small for Gestational Age with Persistent Short Stature.
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- Hormone Research in Paediatrics, 2024, v. 97, n. 1, p. 40, doi. 10.1159/000530521
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- Publication type:
- Article
Screening of monogenic autoimmune diabetes among children with type 1 diabetes and multiple autoimmune diseases: is it worth doing?
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- Journal of Pediatric Endocrinology & Metabolism, 2019, v. 32, n. 10, p. 1147, doi. 10.1515/jpem-2019-0261
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- Publication type:
- Article
Short stature in a boy with atypical progeria syndrome due to LMNA c.433G>A [p.(Glu145Lys)]: apparent growth hormone deficiency but poor response to growth hormone therapy.
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- Journal of Pediatric Endocrinology & Metabolism, 2019, v. 32, n. 7, p. 775, doi. 10.1515/jpem-2019-0107
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- Publication type:
- Article
Could a combination of heterozygous ABCC8 and KCNJ11 mutations cause congenital hyperinsulinism?
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- Journal of Pediatric Endocrinology & Metabolism, 2017, v. 30, n. 12, p. 1311, doi. 10.1515/jpem-2017-0163
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- Publication type:
- Article
MODY in Ukraine: genes, clinical phenotypes and treatment.
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- Journal of Pediatric Endocrinology & Metabolism, 2017, v. 30, n. 10, p. 1095, doi. 10.1515/jpem-2017-0075
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- Publication type:
- Article
HNF1A mutation presenting with fetal macrosomia and hypoglycemia in childhood prior to onset of overt diabetes.
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- Journal of Pediatric Endocrinology & Metabolism, 2011, v. 24, n. 5/6, p. 377, doi. 10.1515/jpem.2011.049
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- Article
HNF1A mutation presenting with fetal macrosomia and hypoglycemia in childhood prior to onset of overt diabetes.
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- 2011
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- Publication type:
- Case Study
HNFIA mutation presenting with fetal macrosomia and hypoglycemia in childhood prior to onset of overt diabetes.
- Published in:
- 2011
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- Publication type:
- Case Study
Novel calcium-sensing receptor cytoplasmic tail deletion mutation causing autosomal dominant hypocalcemia: molecular and clinical study.
- Published in:
- European Journal of Endocrinology, 2016, v. 174, n. 4, p. K1, doi. 10.1530/EJE-15-1216
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- Publication type:
- Article
Choledochal Cyst with 17q12 Chromosomal Duplication.
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- Annals of Human Genetics, 2018, v. 82, n. 1, p. 48, doi. 10.1111/ahg.12221
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- Publication type:
- Article
Invaluable Role of Consanguinity in Providing Insight into Paediatric Endocrine Conditions: Lessons Learnt from Congenital Hyperinsulinism, Monogenic Diabetes, and Short Stature.
- Published in:
- Hormone Research in Paediatrics, 2022, v. 95, n. 1, p. 1, doi. 10.1159/000521210
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- Publication type:
- Article
Short Stature in a Boy with Multiple Early-Onset Autoimmune Conditions due to a STAT3 Activating Mutation: Could Intracellular Growth Hormone Signalling Be Compromised?
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- Hormone Research in Paediatrics, 2017, v. 88, n. 2, p. 160, doi. 10.1159/000456544
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- Publication type:
- Article
Anophthalmia, hearing loss, abnormal pituitary development and response to growth hormone therapy in three children with microdeletions of 14q22q23.
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- Molecular Cytogenetics (17558166), 2014, v. 7, n. 1, p. 1, doi. 10.1186/1755-8166-7-17
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- Publication type:
- Article
Association of IL23R p.381Gln and ATG16L1 p.197Ala with Crohn disease in the Czech population.
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- 2009
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- Publication type:
- journal article
Ancestral mutations may cause a significant proportion of GCK-MODY.
- Published in:
- Pediatric Diabetes, 2012, v. 13, n. 6, p. 489, doi. 10.1111/j.1399-5448.2011.00845.x
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- Publication type:
- Article
Familial mild hyperglycemia associated with a novel ABCC8-V84I mutation within three generations.
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- Pediatric Diabetes, 2011, v. 12, n. 3pt2, p. 266, doi. 10.1111/j.1399-5448.2010.00719.x
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- Publication type:
- Article
Glucokinase diabetes in 103 families from a country-based study in the Czech Republic: geographically restricted distribution of two prevalent GCK mutations.
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- Pediatric Diabetes, 2010, v. 11, n. 8, p. 529, doi. 10.1111/j.1399-5448.2010.00646.x
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- Article
Isolated growth hormone deficiency in children with vertically transmitted short stature: What do the genes tell us?
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- Frontiers in Endocrinology, 2023, v. 13, p. 01, doi. 10.3389/fendo.2022.1102968
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- Publication type:
- Article
Gregor Mendel a řízení růstu dítěte: geny, molekuly a pediatrická klinická praxe.
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- Czecho-Slovak Pediatrics / Česko-Slovenská Pediatrie, 2022, v. 77, n. 4, p. 206, doi. 10.55095/cspediatrie2022/033
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- Article
High Prevalence of Growth Plate Gene Variants in Children With Familial Short Stature Treated With GH.
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- 2019
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- Publication type:
- journal article
Treated Autoimmune Thyroid Disease Is Associated with a Decreased Quality of Life among Young Persons with Type 1 Diabetes.
- Published in:
- International Journal of Endocrinology, 2015, v. 2015, p. 1, doi. 10.1155/2015/185859
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- Publication type:
- Article
Chronic Mild Hyperglycemia in GCK-MODY Patients Does Not Increase Carotid Intima-Media Thickness.
- Published in:
- International Journal of Endocrinology, 2013, p. 1, doi. 10.1155/2013/718254
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- Publication type:
- Article
Játra, ledviny a diabetes: tři tváře deficitu genu HNF1B.
- Published in:
- Internal Medicine / Vnitrni Lekarstvi, 2014, v. 60, n. 9, p. 725
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- Publication type:
- Article
Two cases of diabetic ketoacidosis in HNF1A-MODY linked to severe dehydration: is it time to change the diagnostic criteria for MODY?
- Published in:
- 2013
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- Publication type:
- journal article
Two Cases of Diabetic Ketoacidosis in HNF1A-MODY Linked to Severe Dehydration.
- Published in:
- Diabetes Care, 2013, v. 36, n. 9, p. 2573, doi. 10.2337/dc13-0058
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- Publication type:
- Article
SNPman: a program for genotype calling using run data from TaqMan allelic discrimination.
- Published in:
- Bioinformatics, 2011, v. 27, n. 16, p. 2306, doi. 10.1093/bioinformatics/btr383
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- Publication type:
- Article
The Common p.R114W HNF4A Mutation Causes a Distinct Clinical Subtype of Monogenic Diabetes.
- Published in:
- 2016
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- Publication type:
- journal article
The CTLA4 variants may interact with the IL23R- and NOD2-conferred risk in development of Crohn's disease.
- Published in:
- BMC Medical Genetics, 2010, v. 11, p. 91, doi. 10.1186/1471-2350-11-91
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- Publication type:
- Article