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List of works by Jan Lebl

45,X/46,X,psu dic(Y) gonadal dysgenesis: influence of the two cell lines on the clinical phenotype, including gonadal histology

scientific article published on 13 November 2013

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

A novel -192c/g mutation in the proximal P2 promoter of the hepatocyte nuclear factor-4 alpha gene (HNF4A) associates with late-onset diabetes

scientific article published in June 2006

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

Aetiological heterogeneity of asymptomatic hyperglycaemia in children and adolescents

scientific article published on 7 April 2006

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

An aid for the early diagnosis of hypothalamo-hypophyseal nanism: natural growth in children with growth hormone deficiency during the first years of life

scientific article published in September 1990

Ancestral mutations may cause a significant proportion of GCK-MODY

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

scientific article

Aortic dissection and rupture in a 16-year-old girl with Turner syndrome following previous progression of aortic dilation

scientific article published on 16 April 2010

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

scientific article published on 7 October 2014

Association between Neuromedin U Gene Variants and Overweight and Obesity

article

Autosomal inheritance of diabetes in two families characterized by obesity and a novel H241Q mutation in NEUROD1.

scientific article

Auxological and endocrine phenotype in a population-based cohort of patients with PROP1 gene defects.

scientific article

Body composition in children receiving recombinant human growth hormone after renal transplantation

article

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

Cerebral oedema in enuretic children during low-dose desmopressin treatment: a preventable complication

scientific article

Choledochal Cyst with 17q12 Chromosomal Duplication

scientific article

Chronic Mild Hyperglycemia in GCK-MODY Patients Does Not Increase Carotid Intima-Media Thickness.

scientific article published on 11 September 2013

Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations.

scientific article

Coarctation of the aorta in Noonan-like syndrome with loose anagen hair

Complete androgen insensitivity syndrome: factors influencing gonadal histology including germ cell pathology.

scientific article published in November 2013

Congenital Adrenal Hyperplasia: Lessons from a Multinational Study

Congenital Hyperinsulinism Caused by Novel Homozygous KATP Channel Gene Variants May Be Linked to Unexplained Neonatal Deaths among Kurdish Consanguineous Families

scientific article published on 23 March 2020

Continued growth hormone (GH) treatment after final height is necessary to complete somatic development in childhood-onset GH-deficient patients

scientific article published in October 2004

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

scientific article

Discordant growth pattern and ovarian function in monozygotic twins with 45,X/46,XX mosaicism

scientific article published in January 2001

Dětská nadváha a obezita je zdravotní problém

Estimation of the false-negative rate in newborn screening for congenital adrenal hyperplasia

scientific article published in June 2005

European multicentre study in children born small for gestational age with persistent short stature: comparison of continuous and discontinuous growth hormone treatment regimens

scientific article published on 27 November 2008

Familial mild hyperglycemia associated with a novel ABCC8-V84I mutation within three generations

scientific article published on 9 January 2011

Family and population-based studies of variation within the ghrelin receptor locus in relation to measures of obesity

scientific article

Foreword

Frameshift mutations in the insulin gene leading to prolonged molecule of insulin in two families with Maturity-Onset Diabetes of the Young

scientific article published on 23 February 2015

Further evidence that mutations in INS can be a rare cause of Maturity-Onset Diabetes of the Young (MODY).

scientific article

GH and TSH deficiency

scientific article published on 01 January 1997

Gastrointestinal Autoimmunity Associated With Loss of Central Tolerance to Enteric α-Defensins.

scientific article published on 15 May 2015

Genesis of two most prevalent PROP1 gene variants causing combined pituitary hormone deficiency in 21 populations

scientific article published on 10 June 2015

Genetic analysis of the CYP21A2 gene in neonatal dried blood spots from children with transiently elevated 17-hydroxyprogesterone

article

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

article

Genetic evidence that HNF-1alpha-dependent transcriptional control of HNF-4alpha is essential for human pancreatic beta cell function

scientific article

Genetic evidence that HNF-1α–dependent transcriptional control of HNF-4α is essential for human pancreatic β cell function

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

Gonadal pathology and tumor risk in relation to clinical characteristics in patients with 45,X/46,XY mosaicism.

scientific article

Growth data in large series of 587 children and adolescents with type 1 diabetes mellitus.

scientific article published in September 2003

Growth patterns and final height in congenital adrenal hyperplasia due to classical 21-hydroxylase deficiency. Results of a multicenter study

scientific article

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

scientific article published on 01 January 2011

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

scientific article

Hepatic phenotypes of HNF1B gene mutations: a case of neonatal cholestasis requiring portoenterostomy and literature review

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 PROP1 defects in Lithuania: phenotypic findings in an ethnically homogenous cohort of patients with multiple pituitary hormone deficiency

scientific article published on 20 December 2013

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

Homozygous carriers of the G allele of rs4664447 of the glucagon gene (GCG) are characterised by decreased fasting and stimulated levels of insulin, glucagon and glucagon-like peptide (GLP)-1.

scientific article published on 7 August 2011

IGF-I resistance and Turner's syndrome

scientific article

Immune system in adults with childhood-onset growth hormone deficiency: effect of growth hormone therapy

scientific article published on 01 December 2000

Immunological findings in patients with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) and their family members: are heterozygotes subclinically affected?

scientific article published in November 2002

Impaired Growth during Childhood in Patients with Primary Ciliary Dyskinesia

scientific article published on 12 December 2013

Increased prevalence of bicuspid aortic valve in Turner syndrome links with karyotype: the crucial importance of detailed cardiovascular screening.

scientific article published on 25 February 2017

Insulin-like growth factor-I and insulin-like growth factor-binding protein-3 in cystic fibrosis: a positive effect of antibiotic therapy and hyperalimentation

scholarly article by Jan Lebl et al published 1 August 2001 in Acta Paediatrica

Insulin-like growth factor-I and insulin-like growth factor-binding protein-3 in cystic fibrosis: a positive effect of antibiotic therapy and hyperalimentation

scientific article published on 01 August 2001

Lack of PAX4 mutations in 53 Czech MODYX families

scholarly article by P. Dusatkova et al published 9 November 2010 in Diabetic Medicine

Lessons from 30 years of clinical diagnosis and treatment of congenital adrenal hyperplasia in five middle European countries

scientific article published on 01 July 2001

Lessons from whole-exome sequencing in MODYX families

scholarly article by Petra Dusatkova et al published June 2014 in Diabetes Research and Clinical Practice

Lessons learned from 5 years of newborn screening for congenital adrenal hyperplasia in the Czech Republic: 17-hydroxyprogesterone, genotypes, and screening performance

scholarly article by Felix Votava et al published 11 January 2012 in European Journal of Pediatrics

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

scientific article published in September 2014

Long-term stability of amino acids and acylcarnitines in dried blood spots

scientific article published in February 2007

Longitudinal growth in HIV-negative boys with haemophilia.

scientific article

Low-dose insulin therapy in patients with cystic fibrosis and early-stage insulinopenia prevents deterioration of lung function: a 3-year prospective study

scientific article published in January 2011

Lymphocyte subsets in renal transplant recipients during growth hormone therapy

scientific article published on 01 March 1999

MODY in Ukraine: genes, clinical phenotypes and treatment

scientific article published in September 2017

Maturity-onset diabetes of the young with end-stage nephropathy: a new indication for simultaneous pancreas and kidney transplantation?

scientific article published in April 2004

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

scientific article published in July 2015

Mechanisms of Appetite Regulation

Melanocortin 4 receptor mutations in obese Czech children: studies of prevalence, phenotype development, weight reduction response, and functional analysis

scientific article published on 19 June 2007

Metabolic impact of growth hormone treatment in short children born small for gestational age.

scientific article published on 2 September 2011

Molecular genetics and phenotypic characteristics of MODY caused by hepatocyte nuclear factor 4α mutations in a large European collection

article

Muscle function in Turner syndrome: normal force but decreased power

scientific article published on 2 July 2014

Mutational spectrum of steroid 21-hydroxylase and the genotype-phenotype association in Middle European patients with congenital adrenal hyperplasia

scientific article published in July 2005

Mutations and pituitary morphology in a series of 82 patients with PROP1 gene defects

scientific article published on 18 October 2011

Normal course of autoimmune thyroid disease in diabetic children

scientific article published on January 2003

Novel AIRE mutations and P450 cytochrome autoantibodies in Central and Eastern European patients with APECED

article published in 2001

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

Novel glucokinase gene mutation in the first Macedonian family tested for MODY.

scientific article published on 10 May 2017

Paediatric Endocrinology Subspecialty - The European Map, 55 Years Later

scientific article published on 7 November 2017

Pendred syndrome among patients with congenital hypothyroidism detected by neonatal screening: identification of two novel PDS/SLC26A4 mutations

scientific article published on 18 September 2007

Pilot newborn screening project for cystic fibrosis in the Czech Republic: defining role of the delay in its symptomatic diagnosis and influence of ultrasound-based prenatal diagnosis on the incidence of the disease

scientific article published on 8 February 2009

Premenarchal and postmenarchal girls with insulin-dependent diabetes mellitus: Ovarian and other organ-specific autoantibodies, menstrual cycle

scientific article published on 01 November 1999

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 congenital adrenal hyperplasia among sudden infant death in the Czech Republic and Austria

scholarly article by Kristina A. Strnadová et al published 22 September 2006 in European Journal of Pediatrics

Quantifying adherence to growth hormone treatment: the easypod™ connect observational study (ECOS)

Refining clinical phenotypes in septo-optic dysplasia based on MRI findings

scientific article published on 30 January 2008

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

Rituximab resistant evans syndrome and autoimmunity in Schimke immuno-osseous dysplasia

scientific article

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

Screening for mutations in transcription factors in a Czech cohort of 170 patients with congenital and early-onset hypothyroidism: identification of a novel PAX8 mutation in dominantly inherited early-onset non-autoimmune hypothyroidism

scholarly article by Eva Al Taji et al published May 2007 in European Journal of Endocrinology

Severe Hypoglycemia and Reduction of Insulin Requirement in a Girl with Insulin-Dependent Diabetes Mellitus: First Sign of a Craniopharyngioma

scientific article published on 01 September 1999

Sex hormone-binding globulin as a marker of the effect of hormonal treatment in Turner's syndrome.

scientific article published in March 2001

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

Six novel mutations in the GCK gene in MODY patients

article

Steroid 17alpha-hydroxylase deficiency: functional characterization of four mutations (A174E, V178D, R440C, L465P) in the CYP17A1 gene

scientific article

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

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

The Uterine Length in Women with Turner Syndrome Reflects the Postmenarcheal Daily Estrogen Dose

article by Marta Snajderova et al published 2003 in Hormone Research in Paediatrics

The contrast sensitivity test in early detection of ocular changes in the relation to the type I diabetes mellitus compensation in children, teenagers, and young adults

scientific article

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 muscle-bone interaction in Turner syndrome

scientific article

The occurrence of ocular diseases in patients with Turner syndrome

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

Treatment of peripubertal children after renal transplantation (RTX) with recombinant human growth hormone: auxological data and effects on insulin-like growth factor-I (IGF-I) and IGF-binding protein-3 (IGFBP-3) during 24 months

scientific article

Treatment options for children with monogenic forms of obesity

scientific article published on 11 February 2013

Tumor risk in disorders of sex development.

scientific article

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

Two novel mutations in seven Czech and Slovak kindreds with familial neurohypophyseal diabetes insipidus-benefit of genetic testing.

scientific article

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

article

Urinary growth hormone excretion in diabetic children: relation to nocturnal course of blood glucose levels

scientific article published in January 1993

Validation of a mathematical model predicting the response to growth hormone treatment in prepubertal children with idiopathic growth hormone deficiency

scientific article published on 15 December 2003

[Adult height of patients after long-term treatment of idiopathic growth hormone deficiency. (Czech Registry 1991-1998)]

scientific article published on 01 August 2000

[Analysis of specific sequences in female patients with Turner syndrome--initial study]

scientific article published on 01 July 2002

[Confrontation with IF phenomenon]

scientific article published on 01 January 2006

[Differential diagnosis in children with small stature]

scientific article published on 01 March 1995

[Disorders of sexual development (2 case report, delayed diagnosis)]

scientific article published on 01 May 1990

[Effect of estrogens on final body height in girls with a constitutionally tall stature--risk or benefit?].

scientific article published on 01 July 1999

[Efficient diagnosis of hypothalamo-hypophyseal nanism: 5 years' experience with the clonidine stimulation test in the diagnosis of growth hormone secretion].

scientific article published on 01 November 1990

[Glibenclamide instead of insulin: a new chance for MODY 3 type diabetes patients: case report].

scientific article published on 01 March 2006

[Growth and adult height in patients with congenital adrenal hyperplasia]

scientific article published on 01 November 1995

[Growth hormone therapy in children with growth hormone deficiency: study of dose-response relationship]

scientific article published on 01 April 1994

[Growth hormone therapy in prepubertal children with chronic renal insufficiency]

scientific article published on 01 December 1995

[Growth in children with the exudative enteropathy syndrome due to a congenital heart defect--cor triatriatum dextrum]

scientific article published on 01 January 1996

[Improvement in the prognosis for growth in a boy with central precocious puberty and growth hormone deficiency treated concurrently with growth hormone and D-Trp-6-LHRH gonadoliberin analog]

scientific article published on 01 January 1994

[Insulin resistance is dependent on the degree of compensation in juvenile diabetes].

scientific article

[Late sequelae of comprehensive antineoplastic therapy in children and adolescents with solid extracranial tumors. Effect on growth, pubertal development and gonadal function]

scientific article published on 01 May 1997

[Long-term therapy of central precocious puberty in girls with the gonadoliberin analog D-Trp-6-LHRH after prior therapy with cyproterone acetate]

scientific article published on 01 January 1994

[Stimulation of endogenous secretion of the growth hormone. Today in diagnosis, tomorrow in therapy?]

scientific article published on 01 June 1995

[The contrast sensitivity test in early detection of ocular changes in children, teenagers, and young adults with diabetes mellitus type I].

scientific article published on 01 November 2006

[The effect of increased production of androgens on the development of body build morphology. Case report of an androgen-active tumor in a monozygotic twin].

scientific article published on 01 July 1990

[The effect of treatment on growth in children with central precocious puberty]

scientific article published on 01 March 1995

[The human lens' transparence changes in children, adolescents, and young adults with diabetes mellitus type I]

scientific article published on 01 September 2006

[Treatment of diabetics using portable insulin pumps]

scientific article published on 01 December 1985

[Type 1A diabetes mellitus and failure of central immunologic autotolerance].

scientific article published on 01 January 2004

[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

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