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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
Changes in innate and adaptive immunity over the first year after the onset of type 1 diabetes.
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- Acta Diabetologica, 2020, v. 57, n. 3, p. 297, doi. 10.1007/s00592-019-01427-1
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- Article
Heterogenita dětského diabetu a její terapeutické implikace.
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- Internal Medicine / Vnitrni Lekarstvi, 2016, v. 62, p. 4S129
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- Publication type:
- Article
Vrozený hyperinzulinizmus: když B-buňka ztratí sebekontrolu?
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- Internal Medicine / Vnitrni Lekarstvi, 2016, v. 62, p. 4S72
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- Publication type:
- 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
Intralymphatic GAD-Alum (Diamyd®) Improves Glycemic Control in Type 1 Diabetes With HLA DR3-DQ2.
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- Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 9, p. 2644, doi. 10.1210/clinem/dgac343
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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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- Publication type:
- journal article
NPR2 Variants Are Frequent among Children with Familiar Short Stature and Respond Well to Growth Hormone Therapy.
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- 2020
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- Publication type:
- journal article
Correction to: Molecular basis and outcomes of a typical haemolytic uraemic syndrome in Czech children.
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- 2022
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- Publication type:
- Correction Notice
Blood pressure in children with renal cysts and diabetes syndrome.
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- European Journal of Pediatrics, 2021, v. 180, n. 12, p. 3599, doi. 10.1007/s00431-021-04165-1
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- Article
Molecular basis and outcomes of atypical haemolytic uraemic syndrome in Czech children.
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- European Journal of Pediatrics, 2020, v. 179, n. 11, p. 1739, doi. 10.1007/s00431-020-03666-9
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- Publication type:
- Article
Nadměrný růst u dětí a dospělých: nový klinický pohled, nové geny, nové fenotypy.
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- Journal of Czech Physicians / Časopis Lékařů Českých, 2017, v. 156, n. 5, p. 233
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- Article
High Incidence of Heterozygous ABCC8 and HNF1A Mutations in Czech Patients With Congenital Hyperinsulinism.
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- 2015
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- Publication type:
- journal article
Autoimmune Diabetes Mellitus with Adult Onset and Type 1 Diabetes Mellitus in Children Have Different Genetic Predispositions.
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- Annals of the New York Academy of Sciences, 2007, v. 1110, p. 140, doi. 10.1196/annals.1423.016
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- Publication type:
- Article
Paediatric diabetes subtypes in a consanguineous population: a single-centre cohort study from Kurdistan, Iraq.
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- Diabetologia, 2024, v. 67, n. 1, p. 113, doi. 10.1007/s00125-023-06030-2
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- Publication type:
- Article
Changes in the gut bacteriome upon gluten-free diet intervention do not mediate beta cell preservation.
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- Diabetologia, 2023, v. 66, n. 1, p. 241, doi. 10.1007/s00125-022-05805-3
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- Publication type:
- 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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- Publication type:
- Article
Human gut microbiota transferred to germ-free NOD mice modulate the progression towards type 1 diabetes regardless of the pace of beta cell function loss in the donor.
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- Diabetologia, 2019, v. 62, n. 7, p. 1291, doi. 10.1007/s00125-019-4869-2
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- Publication type:
- 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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- Publication type:
- Article
Možnosti imunoterapie diabetu 1. typu u dětí a dospívajících.
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- Pediatrie pro Praxi, 2024, v. 25, n. 2, p. 75, doi. 10.36290/ped.2024.015
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- Publication type:
- Article
Proč začít se screeningem preklinických stadií diabetu 1. typu právě teď?
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- Pediatrie pro Praxi, 2024, v. 25, n. 2, p. 71, doi. 10.36290/ped.2024.014
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- Publication type:
- Article
Gluten‐free diet in children with recent‐onset type 1 diabetes: A 12‐month intervention trial.
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- Diabetes, Obesity & Metabolism, 2020, v. 22, n. 5, p. 866, doi. 10.1111/dom.13974
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- Publication type:
- Article
SALL4 Phenotype in Four Generations of One Family: An Interplay of the Upper Limb, Kidneys, and the Pituitary.
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- 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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- Publication type:
- Article
Glycemic Control by Treatment Modalities: National Registry-Based Population Data in Children and Adolescents with Type 1 Diabetes.
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- Hormone Research in Paediatrics, 2024, v. 97, n. 1, p. 70, doi. 10.1159/000530833
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- Publication type:
- 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
Variants influencing age at diagnosis of HNF1A-MODY.
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- Molecular Medicine, 2022, v. 28, n. 1, p. 1, doi. 10.1186/s10020-022-00542-0
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- Article
Neutrophil Extracellular Trap Induced Dendritic Cell Activation Leads to Th1 Polarization in Type 1 Diabetes.
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- Frontiers in Immunology, 2020, p. 1, doi. 10.3389/fimmu.2020.00661
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- Publication type:
- Article
Are all HCL systems the same? long term outcomes of three HCL systems in children with type 1 diabetes: real-life registry-based study.
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- Frontiers in Endocrinology, 2023, p. 1, doi. 10.3389/fendo.2023.1283181
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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.
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- 2011
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- Publication type:
- Case Study
IGF-I Resistance and Turner's Syndrome.
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- Journal of Pediatric Endocrinology & Metabolism, 2001, v. 14, n. 1, p. 37, doi. 10.1515/jpem.2001.14.1.37
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- Publication type:
- Article
Elevated Biomarkers of NETosis in the Serum of Pediatric Patients With Type 1 Diabetes and Their First-Degree Relatives.
- Published in:
- Frontiers in Immunology, 2021, v. 12, p. 1, doi. 10.3389/fimmu.2021.699386
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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
Genetic diagnosis of steroid-resistant nephrotic syndrome in a longitudinal collection of Czech and Slovak patients: a high proportion of causative variants in NUP93.
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- Pediatric Nephrology, 2018, v. 33, n. 8, p. 1347, doi. 10.1007/s00467-018-3950-2
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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.
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- Hormone Research in Paediatrics, 2022, v. 95, n. 1, p. 1, doi. 10.1159/000521210
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- Publication type:
- Article
Congenital Hyperinsulinism Caused by Novel Homozygous K<sub>ATP</sub> Channel Gene Variants May Be Linked to Unexplained Neonatal Deaths among Kurdish Consanguineous Families.
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- Hormone Research in Paediatrics, 2020, v. 93, n. 1, p. 58, doi. 10.1159/000506476
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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
A Novel--192c/g Mutation in the Proximal P2 Promoter of the Hepatocyte Nuclear Factor-4α Gene (HNF4A) Associates With Late-Onset Diabetes.
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- Diabetes, 2006, v. 55, n. 6, p. 1869, doi. 10.2337/db05-1684
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- Publication type:
- Article
Type 1 diabetes incidence increased during the COVID‐19 pandemic years 2020–2021 in Czechia: Results from a large population‐based pediatric register.
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- Pediatric Diabetes, 2022, v. 23, n. 7, p. 956, doi. 10.1111/pedi.13405
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- Publication type:
- Article
Pre‐school and school‐aged children benefit from the switch from a sensor‐augmented pump to an AndroidAPS hybrid closed loop: A retrospective analysis.
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- Pediatric Diabetes, 2021, v. 22, n. 4, p. 594, doi. 10.1111/pedi.13190
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- Publication type:
- Article
Use of continuous glucose monitoring and its association with type 1 diabetes control in children over the first 3 years of reimbursement approval: Population data from the ČENDA registry.
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- Pediatric Diabetes, 2021, v. 22, n. 3, p. 439, doi. 10.1111/pedi.13184
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- Publication type:
- Article