List of works - Roland W Pfäffle

A Heterozygous Mutation of the Insulin-Like Growth Factor-I Receptor Causes Retention of the Nascent Protein in the Endoplasmic Reticulum and Results in Intrauterine and Postnatal Growth Retardation.

scientific article

A heterozygous mutation of the insulin-like growth factor-I receptor causes retention of the nascent protein in the endoplasmic reticulum and results in intrauterine and postnatal growth retardation

scientific article

A novel FoxD3 Variant Is Associated With Vitiligo and Elevated Thyroid Auto-Antibodies

scientific article published on 12 August 2015

Acceleration of BMI in Early Childhood and Risk of Sustained Obesity

article by Mandy Geserick et al published 4 October 2018 in The New England Journal of Medicine

Clinical and biochemical consequences of an intragenic growth hormone receptor (GHR) deletion in a large Chinese pedigree

scientific article

Clinical and functional characterization of a patient carrying a compound heterozygous pericentrin mutation and a heterozygous IGF1 receptor mutation

scientific article

Congenital hypothyroidism

scientific article published on 01 June 2018

Copy number variations in "classical" obesity candidate genes are not frequently associated with severe early-onset obesity in children.

scientific article published in May 2017

Effects of obesity on human sexual development

scientific article

Further stabilization and even decrease in the prevalence rates of overweight and obesity in German children and adolescents from 2005 to 2015: a cross-sectional and trend analysis

scientific article published on 21 September 2017

Genetic analyses of bone morphogenetic protein 2, 4 and 7 in congenital combined pituitary hormone deficiency.

scientific article

Genome-wide association analysis identifies three new susceptibility loci for childhood body mass index

scientific article published on 24 November 2015

Growth hormone and growth hormone deficiency--still a lot to learn

scientific article published on 01 September 2015

Harmonization of growth hormone measurements with different immunoassays by data adjustment

scientific article

Heterozygous Mutation within a Kinase-Conserved Motif of the Insulin-Like Growth Factor I Receptor Causes Intrauterine and Postnatal Growth Retardation

scientific article published in February 2010

Heterozygous mutation within a kinase-conserved motif of the insulin-like growth factor I receptor causes intrauterine and postnatal growth retardation

scientific article published on 26 January 2010

IGF-I receptor mutations resulting in intrauterine and postnatal growth retardation

article

PROP1 mutations cause progressive deterioration of anterior pituitary function including adrenal insufficiency: a longitudinal analysis

scientific article published in October 2004

Pediatric endocrinology is pediatrics is public health.

scientific article

List of works by Roland W Pfäffle

A Heterozygous Mutation of the Insulin-Like Growth Factor-I Receptor Causes Retention of the Nascent Protein in the Endoplasmic Reticulum and Results in Intrauterine and Postnatal Growth Retardation.

A heterozygous mutation of the insulin-like growth factor-I receptor causes retention of the nascent protein in the endoplasmic reticulum and results in intrauterine and postnatal growth retardation

A novel FoxD3 Variant Is Associated With Vitiligo and Elevated Thyroid Auto-Antibodies

Acceleration of BMI in Early Childhood and Risk of Sustained Obesity

Clinical and biochemical consequences of an intragenic growth hormone receptor (GHR) deletion in a large Chinese pedigree

Clinical and functional characterization of a patient carrying a compound heterozygous pericentrin mutation and a heterozygous IGF1 receptor mutation

Congenital hypothyroidism

Copy number variations in "classical" obesity candidate genes are not frequently associated with severe early-onset obesity in children.

Effects of obesity on human sexual development

Further stabilization and even decrease in the prevalence rates of overweight and obesity in German children and adolescents from 2005 to 2015: a cross-sectional and trend analysis

Genetic analyses of bone morphogenetic protein 2, 4 and 7 in congenital combined pituitary hormone deficiency.

Genome-wide association analysis identifies three new susceptibility loci for childhood body mass index

Growth hormone and growth hormone deficiency--still a lot to learn

Harmonization of growth hormone measurements with different immunoassays by data adjustment

Heterozygous Mutation within a Kinase-Conserved Motif of the Insulin-Like Growth Factor I Receptor Causes Intrauterine and Postnatal Growth Retardation

Heterozygous mutation within a kinase-conserved motif of the insulin-like growth factor I receptor causes intrauterine and postnatal growth retardation

IGF-I receptor mutations resulting in intrauterine and postnatal growth retardation

PROP1 mutations cause progressive deterioration of anterior pituitary function including adrenal insufficiency: a longitudinal analysis

Pediatric endocrinology is pediatrics is public health.