Lista de obras - Zdeněk Šumník - Dominio Público Uruguay

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

artículo científico publicado en 2017

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

artículo científico publicado en 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

artículo científico publicado en 2005

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

artículo científico publicado en 2004

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

artículo científico publicado en 2017

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

artículo científico

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

artículo científico publicado en 2014

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

artículo científico publicado en 2005

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

artículo científico publicado en 2014

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

artículo científico publicado en 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

artículo científico publicado en 2011

Case report: type 1 diabetes in monozygotic quadruplets

artículo científico publicado en 2011

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

artículo científico publicado en 2008

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

artículo científico publicado en 2003

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

artículo científico publicado en 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

artículo científico publicado en 2014

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

artículo científico publicado en 2010

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

artículo científico publicado en 2003

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

artículo científico publicado en 2017

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

artículo científico publicado en 2005

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

artículo científico publicado en 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

artículo científico publicado en 2017

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

artículo científico publicado en 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 DQA105-DQB10201 positivity predisposes to coeliac disease in Czech diabetic children

artículo científico publicado en 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

artículo científico publicado en 2003

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

artículo científico publicado en 2011

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

artículo científico publicado el 1 de septiembre de 2012

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

artículo científico publicado en 2016

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.

artículo científico publicado en 2012

Heterogeneity of childhood diabetes and its therapeutic implications

artículo científico publicado en 2016

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

artículo científico publicado en 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.

artículo científico

Hypophosphatasia due to uniparental disomy

artículo científico publicado en 2015

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

artículo científico publicado en 2016

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

artículo científico publicado en 2014

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

artículo científico publicado en 2008

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

artículo científico publicado en 2015

Muscle function in Turner syndrome: normal force but decreased power

artículo científico publicado en 2014

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

artículo científico publicado en 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

artículo científico publicado en 2017

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.

artículo científico publicado en 2003

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

artículo científico publicado en 2016

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

artículo científico publicado en 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

artículo científico publicado en 2017

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

artículo científico publicado en 2009

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

artículo científico publicado en 2019

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

artículo científico publicado en 2018

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

artículo científico publicado en 2016

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

artículo científico publicado en 2001

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

artículo científico publicado en 2002

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).

artículo científico publicado en 2004

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

artículo científico publicado en 2013

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

artículo científico publicado en 2018

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

artículo científico publicado en 2007

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

artículo científico publicado en 2010

Risk of celiac disease in children with type 1 diabetes is modified by positivity for HLA-DQB102-DQA105 and TNF -308A

artículo científico publicado en 2006

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

artículo científico publicado en 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

artículo científico publicado en 2010

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

artículo científico publicado en 2017

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

artículo científico publicado en 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

artículo científico publicado en 2011

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

artículo científico publicado en 2016

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

artículo científico publicado en 2013

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

artículo científico publicado en 2013

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

artículo científico publicado el 5 de abril de 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

artículo científico publicado en 2018

The muscle-bone interaction in Turner syndrome

artículo científico publicado en 2015

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

artículo científico publicado en 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.

artículo científico publicado en 2016

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

artículo científico publicado en 2015

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

artículo científico publicado en 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.

artículo científico publicado en 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]

artículo científico publicado en 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]

artículo científico publicado en 2004

Lista de obras de Zdeněk Šumník

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

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

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

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

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

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

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

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

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

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

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

Case report: type 1 diabetes in monozygotic quadruplets

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

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

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

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

DNA methylation in monozygotic quadruplets affected by type 1 diabetes

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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.

Heterogeneity of childhood diabetes and its therapeutic implications

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

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.

Hypophosphatasia due to uniparental disomy

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

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

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

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

Muscle function in Turner syndrome: normal force but decreased power

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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).

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

HLA DQA105-DQB10201 positivity predisposes to coeliac disease in Czech diabetic children

Risk of celiac disease in children with type 1 diabetes is modified by positivity for HLA-DQB102-DQA105 and TNF -308A