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List of works by Zdeněk Šumník

A 6-Year Follow-Up of Fracture Incidence and Volumetric Bone Mineral Density Development in Girls with Turner Syndrome

scientific article published on 28 December 2017

A Rare Variant of Turner Syndrome in Four Sequential Generations: Effect of the Interplay of Growth Hormone Treatment and Estrogens on Body Proportion

scientific article published on 27 July 2016

Absence of breast-feeding is associated with the risk of type 1 diabetes: a case-control study in a population with rapidly increasing incidence

scientific article published on 7 October 2005

Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes

scientific article

Alteration of B cell subsets and the receptor for B cell activating factor (BAFF) in paediatric patients with type 1 diabetes.

scientific article published on 13 April 2017

Androgen production in pediatric adrenocortical tumors may occur via both the classic and/or the alternative backdoor pathway

scientific article published on 10 May 2017

Anophthalmia, hearing loss, abnormal pituitary development and response to growth hormone therapy in three children with microdeletions of 14q22q23

scientific article

Anti-GAD65 reactive peripheral blood mononuclear cells in the pathogenesis of cystic fibrosis related diabetes mellitus

scientific article published on 01 June 2005

Artificially low cortical bone mineral density in Turner syndrome is due to the partial volume effect

scientific article published on 7 October 2014

Bone geometry and volumetric bone density at the radius in patients with isolated SHOX deficiency

scientific article published on 20 February 2013

Bone geometry and volumetric bone mineral density in girls with Turner syndrome of different pubertal stages

Boys with haemophilia have low trabecular bone mineral density and sarcopenia, but normal bone strength at the radius

scientific article published on 13 July 2011

Case report: type 1 diabetes in monozygotic quadruplets

scientific article published on 23 November 2011

Clinical heterogeneity in patients with FOXP3 mutations presenting with permanent neonatal diabetes

scientific article published on 17 October 2008

Continuing increase in incidence of childhood-onset type 1 diabetes in the Czech Republic 1990-2001.

scientific article published on 18 April 2003

Could a combination of heterozygous ABCC8 and KCNJ11 mutations cause congenital hyperinsulinism?

scientific article published on 11 November 2017

Cross-sectional fat area at the forearm in children and adolescents

scientific article published on 08 January 2008

DNA methylation in monozygotic quadruplets affected by type 1 diabetes

scientific article published on 23 June 2013

Decreased dendritic cell numbers but increased TLR9-mediated interferon-alpha production in first degree relatives of type 1 diabetes patients

scientific article published on 5 April 2014

Designing and implementing sample and data collection for an international genetics study: the Type 1 Diabetes Genetics Consortium (T1DGC).

scientific article

Effect of pamidronate treatment on vertebral deformity in children with primary osteoporosis. A pilot study using radiographic morphometry

scientific article published on 15 December 2003

Effectiveness of SmartGuard Technology in the Prevention of Nocturnal Hypoglycemia After Prolonged Physical Activity

scientific article

Estimation of diabetes risk in Brazilian population by typing for polymorphisms in HLA-DR-DQ, INS and CTLA-4 genes

scientific article published on January 2005

Five years of improving diabetes control in Czech children after the establishment of the population-based childhood diabetes register ČENDA

scientific article published on 16 October 2019

Genetic epidemiology of MODY in the Czech republic: new mutations in the MODY genes HNF-4alpha, GCK and HNF-1alpha

article

Glucokinase Gene May Be a More Suitable Target Than the Insulin Gene for Detection of β Cell Death

scientific article published on 18 May 2017

Glucokinase diabetes in 103 families from a country-based study in the Czech Republic: geographically restricted distribution of two prevalent GCK mutations.

scientific article published in December 2010

Gluten-free diet in children with recent-onset type 1 diabetes: A 12-month intervention trial

scientific article published on 08 February 2020

HLA DQA1*05-DQB1*0201 positivity predisposes to coeliac disease in Czech diabetic children

scientific article published on 01 December 2000

HLA class II genetic association of type 1 diabetes mellitus in Czech children

scientific article published on 01 September 2001

HLA-DQ Polymorphisms Modify the Risk of Thyroid Autoimmunity in Children with Type 1 Diabetes Mellitus

scientific article published on 01 July 2003

HNF1A mutation presenting with fetal macrosomia and hypoglycemia in childhood prior to onset of overt diabetes

scientific article published on 01 January 2011

Harmonize care to optimize outcome in children and adolescents with diabetes mellitus: treatment recommendations in Europe ⬇️

scientific article published on September 1, 2012

HbA1c but not diabetes duration predicts increased arterial stiffness in adolescents with poorly controlled type 1 diabetes

scientific article

Healthy first-degree relatives of patients with type 1 diabetes exhibit significant differences in basal gene expression pattern of immunocompetent cells compared to controls: expression pattern as predeterminant of autoimmune diabetes.

scientific article

Heterogeneity of childhood diabetes and its therapeutic implications

scientific article

High Incidence of Heterozygous ABCC8 and HNF1A Mutations in Czech Patients With Congenital Hyperinsulinism

scientific article published on 2 October 2015

High prevalence of coeliac disease in siblings of children with type 1 diabetes

Higher maternal age at delivery, and lower birth orders are associated with increased risk of childhood type 1 diabetes mellitus.

scientific article published on June 2004

Hypophosphatasia due to uniparental disomy

scientific article published on 01 May 2015

Initial manifestation of type I diabetes mellitus as an unusual cause of early post-operative seizures

scientific article

Liver, kidneys and diabetes: three faces of HNF1B gene deficit

scientific article published in September 2014

Local body composition is associated with gender differences of bone development at the forearm in puberty

scientific article published on 12 June 2008

McCune Albright syndrome and bilateral adrenal hyperplasia: the GNAS mutation may only be present in adrenal tissue

scientific article published in July 2015

Muscle function in Turner syndrome: normal force but decreased power

scientific article published on 2 July 2014

Muscle functions and bone strength are impaired in adolescents with type 1 diabetes

scientific article published on 7 October 2017

Musculoskeletal system in children and adolescents with inflammatory bowel disease: normal muscle force, decreased trabecular bone mineral density and low prevalence of vertebral fractures

scientific article

Mutations in the SLC29A3 gene are not a common cause of isolated autoantibody negative type 1 diabetes

article

NEUROD polymorphism Ala45Thr is associated with Type 1 diabetes mellitus in Czech children.

scientific article published in April 2003

Negativity for Specific Autoantibodies in Patients with Type 1 Diabetes That Developed on a Background of Common Variable Immunodeficiency.

scientific article

No independent role of the -1123 G>C and+2740 A>G variants in the association of PTPN22 with type 1 diabetes and juvenile idiopathic arthritis in two Caucasian populations

scientific article published on 26 September 2006

Novel calcium-sensing receptor cytoplasmic tail deletion mutation causing autosomal dominant hypocalcemia: molecular and clinical study

scholarly article by Barbora Obermannova et al published April 2016 in European Journal of Endocrinology

Pediatric diabetes training for healthcare professionals in Europe: Time for change

scientific article

Permanent Neonatal Diabetes in a Patient with a KCNJ11/Q52R Mutation Accompanied by Intermittent Hypoglycemia and Liver Failure

scientific article published on 8 October 2009

Persistent heterogeneity in diabetes technology reimbursement for children with type 1 diabetes: The SWEET perspective

scientific article published on 11 April 2019

Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4-insufficient subjects

scientific article published on 04 May 2018

Possibilities and challenges of a large international benchmarking in pediatric diabetology-The SWEET experience

scientific article published on October 2016

Prediction of insulin-dependent diabetes mellitus in children of first-degree relatives of diabetic patients

scientific article published in August 2001

Prediction of type 1 diabetes mellitus in first degree Czech relatives of diabetic patients

scientific article

Pregnancy in a woman suffering from type 1 diabetes associated with Addison's disease and Hashimoto's thyroiditis (fully developed Autoimmune Polyglandular Syndrome Type 2).

scientific article

Prepubertal girls with Turner syndrome and children with isolated SHOX deficiency have similar bone geometry at the radius

scientific article published on 10 May 2013

Prevalence of underweight, overweight, and obesity in children and adolescents with type 1 diabetes: Data from the international SWEET registry

scientific article published on 22 August 2018

Protein microarray analysis as a tool for monitoring cellular autoreactivity in type 1 diabetes patients and their relatives

scientific article

Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis

scientific article

Risk of celiac disease in children with type 1 diabetes is modified by positivity for HLA-DQB1*02-DQA1*05 and TNF -308A

scientific article published on 01 April 2006

Screening detected celiac disease in children with type 1 diabetes mellitus: effect on the clinical course (a case control study).

scientific article published in September 2005

Short Stature in a Boy with Multiple Early-Onset Autoimmune Conditions due to a STAT3 Activating Mutation: Could Intracellular Growth Hormone Signalling Be Compromised?

Substantial proportion of MODY among multiplex families participating in a Type 1 diabetes prediction programme

Summarizing historical information on controls in clinical trials

scientific article (publication date: February 2010)

Supplementation with 2000 IU of Cholecalciferol Is Associated with Improvement of Trabecular Bone Mineral Density and Muscle Power in Pediatric Patients with IBD.

scientific article published in April 2017

T regulatory lymphocytes in type 1 diabetes: Impaired CD25 expression and IL-2 induced STAT5 phosphorylation in pediatric patients

scientific article published on 25 August 2016

Temporal trends in diabetic ketoacidosis at diagnosis of paediatric type 1 diabetes between 2006 and 2016: results from 13 countries in three continents

scientific article published on 08 May 2020

Teplizumab for treatment of type 1 diabetes (Protégé study): 1-year results from a randomised, placebo-controlled trial

scientific article

The CTLA4 +49 A/G dimorphism is not associated with type 1 diabetes in Czech children

scientific article published on 01 June 2002

The development and implementation of the SWEET Peer Review Programme for pediatric diabetes centres

scientific article published on October 2016

The dynamic changes of zinc transporter 8 autoantibodies in Czech children from the onset of Type 1 diabetes mellitus

scientific article published on 13 September 2013

The effect of diabetes-associated autoantigens on cell processes in human PBMCs and their relevance to autoimmune diabetes development

scientific article published on 12 June 2013

The incidence of type 1 diabetes in young Czech children stopped rising ⬇️

scientific article published on 05 April 2012

The influence of treatment, age at onset, and metabolic control on height in children and adolescents with type 1 diabetes-A SWEET collaborative study

scientific article published on 10 October 2018

The muscle-bone interaction in Turner syndrome

scientific article

Thyroid autoimmunity in children with coexisting type 1 diabetes mellitus and celiac disease: a multicenter study

scientific article published on 01 April 2006

Tolerogenic Dendritic Cells from Poorly Compensated Type 1 Diabetes Patients Have Decreased Ability To Induce Stable Antigen-Specific T Cell Hyporesponsiveness and Generation of Suppressive Regulatory T Cells.

scientific article

Treated Autoimmune Thyroid Disease Is Associated with a Decreased Quality of Life among Young Persons with Type 1 Diabetes.

scientific article published on 18 May 2015

Two cases of diabetic ketoacidosis in HNF1A-MODY linked to severe dehydration: is it time to change the diagnostic criteria for MODY?

scientific article published on 22 April 2013

Type 1 diabetes mellitus in Czech children diagnosed in 1990-1997: a significant increase in incidence and male predominance in the age group 0-4 years. Collaborators of the Czech Childhood Diabetes Registry.

scientific article published in January 2000

Unusually severe phenotype of neonatal primary hyperparathyroidism due to a heterozygous inactivating mutation in the CASR gene

article

[Association of insulin gene variants with type 1 diabetes mellitus in Czech population]

scientific article published on 01 January 2004

[Autoantibodies to GAD65, IA2 and insulin in Czech children with type 1 diabetes]

scientific article published on 01 September 2000

[Type I diabetes mellitus and associated autoimmune diseases in the first-degree relatives of diabetic children: questionnaire based study]

scientific article published on 01 January 2004

Abeceda diabetu ⬇️

book edition published in 2015

Abeceda diabetu

book edition published in 2018

Biologická léčba v pediatrii: motolské pediatrické semináře 8

book edition published in 2021

Doporučený postup České endokrinologické společnost pro diagnostiku a léčbu primární hyperparathyreózy a hypoparathyreózy

book edition published in 2021

Dětská endokrinologie a diabetologie

book edition published in 2016

Onemocnění skeletu u dětí: motolské pediatrické semináře 4

book edition published in 2019

Vzácná onemocnění u dětí: motolské pediatrické semináře 2

book edition published in 2018

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