Lista de obras -

A novel gain-of-function IKBA mutation underlies ectodermal dysplasia with immunodeficiency and polyendocrinopathy

artículo científico publicado en 2013

Age of onset of type 1 diabetes in children and carotid intima medial thickness

artículo científico publicado en 2007

Blood pressure, fludrocortisone dose and plasma renin activity in children with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency followed from birth to 4 years of age.

artículo científico publicado en 2014

Bone mass development and bone metabolism in juvenile idiopathic arthritis: treatment with growth hormone for 4 years

artículo científico publicado en 2004

Bone size normalizes with age in children and adolescents with type 1 diabetes

artículo científico publicado en 2007

Central reassessment of GH concentrations measured at local treatment centers in children with impaired growth: consequences for patient management

artículo científico publicado en 2004

Congenital adrenal hyperplasia due to 11-hydroxylase deficiency--insights from two novel CYP11B1 mutations (p.M92X, p.R453Q).

artículo científico publicado en 2009

Disorders of sex development and Diamond-Blackfan anemia: is there an association?

artículo científico publicado en 2010

Dynamics of body composition and bone in patients with juvenile idiopathic arthritis treated with growth hormone

artículo científico publicado en 2009

Early changes in body composition after cessation of growth hormone therapy in childhood-onset growth hormone deficiency.

artículo científico publicado en 2011

Early manifestation of type 1 diabetes in children is a risk factor for changed bone geometry: data using peripheral quantitative computed tomography

artículo científico publicado en 2006

Endosteal bone storage in young adults born small for gestational age – a study using peripheral quantitative computed tomography ⬇️

artículo científico publicado el 1 de abril de 2012

Exposure to Farming Environments in Early Life and Type 1 Diabetes: A Case-Control Study

scientific article published on 01 November 2005

Frequency and causes of adrenal crises over lifetime in patients with 21-hydroxylase deficiency

artículo científico publicado en 2012

Growth hormone increases final height in patients with juvenile idiopathic arthritis: data from a randomized controlled study

artículo científico publicado en 2007

High prevalence of reduced fecundity in men with congenital adrenal hyperplasia

artículo científico publicado en 2009

Hydrocortisone dosing during puberty in patients with classical congenital adrenal hyperplasia: an evidence-based recommendation.

artículo científico publicado en 2009

Impaired Bone Geometry After Heart and Heart-Lung Transplantation in Childhood ⬇️

artículo científico publicado el 15 de noviembre de 2010

Insulin resistance in young adults born small for gestational age (SGA).

artículo científico publicado en 2014

Insulin sensitivity decreases in short children born small for gestational age treated with growth hormone

artículo científico publicado en 2008

Long-term GnRH agonist treatment for female central precocious puberty does not impair reproductive function

artículo científico publicado en 2006

One-Year Data from a Long-Term Phase IV Study of Recombinant Human Growth Hormone in Short Children Born Small for Gestational Age

artículo científico publicado en 2014

Overestimation of final height prediction in patients with classical congenital adrenal hyperplasia using the Bayley and Pinneau method

artículo científico publicado en 2012

Partial anomalous pulmonary vein connection: an underestimated cardiovascular defect in Ullrich-Turner syndrome

artículo científico publicado en 2004

Prevalence of autoantibodies associated with thyroid and celiac disease in Ullrich-Turner syndrome in relation to adult height after growth hormone treatment

artículo científico publicado en 2006

QTc interval prolongation in children with Turner syndrome: the results of exercise testing and 24-h ECG

artículo científico publicado en 2008

QTc interval prolongation in children with Ulrich-Turner syndrome

artículo científico publicado en 2006

Reassessment of the optimal growth hormone cut-off level in insulin tolerance testing for growth hormone secretion in patients with childhood-onset growth hormone deficiency during transition to adulthood

artículo científico publicado en 2008

Recurrent hypoglycemic seizures and obesity: delayed diagnosis of an insulinoma in a 15 year-old boy--final diagnostic localization with endosonography

scientific article published on 01 September 2007

Reduced final height outcome in congenital adrenal hyperplasia under prednisone treatment: deceleration of growth velocity during puberty

artículo científico publicado en 2007

Reduced muscle mass and bone size in pediatric patients with inflammatory bowel disease

artículo científico publicado en 2010

SUN-254 A Long-Term, Phase IV Study of Omnitrope®, a Recombinant Human Growth Hormone (rhGH), in Short Children Born Small for Gestational Age (SGA)

artículo científico publicado en 2019

Screening frequency for celiac disease and autoimmune thyroiditis in children and adolescents with type 1 diabetes mellitus--data from a German/Austrian multicentre survey.

artículo científico publicado en 2008

Sex Reassignment at Birth ⬇️

artículo científico publicado el 1 de octubre de 1997

Sexual difference in bone geometry of adult patients with classical congenital adrenal hyperplasia: data using peripheral quantitative computed tomography

artículo científico publicado en 2014

Short children. Dwarfs belong in the fairy tale ⬇️

artículo científico publicado el 21 de julio de 2011

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

artículo científico publicado en 2009

Subclinical atherosclerosis in diabetic children: results of a longitudinal study

artículo científico publicado en 2009

Testicular adrenal rest tumors develop independently of long-term disease control: a longitudinal analysis of 50 adult men with congenital adrenal hyperplasia due to classic 21-hydroxylase deficiency

artículo científico publicado en 2013

The A645D mutation in the hinge region of the human androgen receptor (AR) gene modulates AR activity, depending on the context of the polymorphic glutamine and glycine repeats

artículo científico publicado en 2006

Total adrenal volume but not testicular adrenal rest tumor volume is associated with hormonal control in patients with 21-hydroxylase deficiency

artículo científico publicado en 2010

Two-Year Data from a Long-Term Phase IV Study of Recombinant Human Growth Hormone in Short Children Born Small for Gestational Age.

artículo científico publicado en 2016

Uterine size in women with Turner syndrome after induction of puberty with estrogens and long-term growth hormone therapy: results of the German IGLU Follow-up Study 2001.

artículo científico publicado en 2005

Vaccine tolerance in steroid substituted patients with congenital adrenal hyperplasia

artículo científico publicado el 28 de julio de 1997

Virilising adrenocortical tumours in children.

artículo científico publicado en 2003

[Congenital adrenogenital syndrome]

artículo científico publicado en 1994

Lista de obras de

A novel gain-of-function IKBA mutation underlies ectodermal dysplasia with immunodeficiency and polyendocrinopathy

Age of onset of type 1 diabetes in children and carotid intima medial thickness

Blood pressure, fludrocortisone dose and plasma renin activity in children with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency followed from birth to 4 years of age.

Bone mass development and bone metabolism in juvenile idiopathic arthritis: treatment with growth hormone for 4 years

Bone size normalizes with age in children and adolescents with type 1 diabetes

Central reassessment of GH concentrations measured at local treatment centers in children with impaired growth: consequences for patient management

Congenital adrenal hyperplasia due to 11-hydroxylase deficiency--insights from two novel CYP11B1 mutations (p.M92X, p.R453Q).

Disorders of sex development and Diamond-Blackfan anemia: is there an association?

Dynamics of body composition and bone in patients with juvenile idiopathic arthritis treated with growth hormone

Early changes in body composition after cessation of growth hormone therapy in childhood-onset growth hormone deficiency.

Early manifestation of type 1 diabetes in children is a risk factor for changed bone geometry: data using peripheral quantitative computed tomography

Endosteal bone storage in young adults born small for gestational age – a study using peripheral quantitative computed tomography ⬇️

Exposure to Farming Environments in Early Life and Type 1 Diabetes: A Case-Control Study

Frequency and causes of adrenal crises over lifetime in patients with 21-hydroxylase deficiency

Growth hormone increases final height in patients with juvenile idiopathic arthritis: data from a randomized controlled study

High prevalence of reduced fecundity in men with congenital adrenal hyperplasia

Hydrocortisone dosing during puberty in patients with classical congenital adrenal hyperplasia: an evidence-based recommendation.

Impaired Bone Geometry After Heart and Heart-Lung Transplantation in Childhood ⬇️

Insulin resistance in young adults born small for gestational age (SGA).

Insulin sensitivity decreases in short children born small for gestational age treated with growth hormone

Long-term GnRH agonist treatment for female central precocious puberty does not impair reproductive function

One-Year Data from a Long-Term Phase IV Study of Recombinant Human Growth Hormone in Short Children Born Small for Gestational Age

Overestimation of final height prediction in patients with classical congenital adrenal hyperplasia using the Bayley and Pinneau method

Partial anomalous pulmonary vein connection: an underestimated cardiovascular defect in Ullrich-Turner syndrome

Prevalence of autoantibodies associated with thyroid and celiac disease in Ullrich-Turner syndrome in relation to adult height after growth hormone treatment

QTc interval prolongation in children with Turner syndrome: the results of exercise testing and 24-h ECG

QTc interval prolongation in children with Ulrich-Turner syndrome

Reassessment of the optimal growth hormone cut-off level in insulin tolerance testing for growth hormone secretion in patients with childhood-onset growth hormone deficiency during transition to adulthood

Recurrent hypoglycemic seizures and obesity: delayed diagnosis of an insulinoma in a 15 year-old boy--final diagnostic localization with endosonography

Reduced final height outcome in congenital adrenal hyperplasia under prednisone treatment: deceleration of growth velocity during puberty

Reduced muscle mass and bone size in pediatric patients with inflammatory bowel disease

SUN-254 A Long-Term, Phase IV Study of Omnitrope®, a Recombinant Human Growth Hormone (rhGH), in Short Children Born Small for Gestational Age (SGA)

Screening frequency for celiac disease and autoimmune thyroiditis in children and adolescents with type 1 diabetes mellitus--data from a German/Austrian multicentre survey.

Sex Reassignment at Birth ⬇️

Sexual difference in bone geometry of adult patients with classical congenital adrenal hyperplasia: data using peripheral quantitative computed tomography

Short children. Dwarfs belong in the fairy tale ⬇️

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

Subclinical atherosclerosis in diabetic children: results of a longitudinal study

Testicular adrenal rest tumors develop independently of long-term disease control: a longitudinal analysis of 50 adult men with congenital adrenal hyperplasia due to classic 21-hydroxylase deficiency

The A645D mutation in the hinge region of the human androgen receptor (AR) gene modulates AR activity, depending on the context of the polymorphic glutamine and glycine repeats

Total adrenal volume but not testicular adrenal rest tumor volume is associated with hormonal control in patients with 21-hydroxylase deficiency

Two-Year Data from a Long-Term Phase IV Study of Recombinant Human Growth Hormone in Short Children Born Small for Gestational Age.

Uterine size in women with Turner syndrome after induction of puberty with estrogens and long-term growth hormone therapy: results of the German IGLU Follow-up Study 2001.

Vaccine tolerance in steroid substituted patients with congenital adrenal hyperplasia

Virilising adrenocortical tumours in children.

[Congenital adrenogenital syndrome]