List of works - Jürgen Klammt

A Comprehensive Cohort Analysis Comparing Growth and GH Therapy Response in IGF1R Mutation Carriers and SGA Children

scientific article published on 01 April 2020

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 GH1 mutation in a family with isolated growth hormone deficiency type II

scientific article published on 22 December 2011

A unique case of a patient with partial trisomy 22 and lipodystrophy: is it a new syndrome due to an IGF-IR mutation?

scientific article published on 01 January 2010

Activation of Erk1/2 phosphorylation but not of Akt/Pkb through an inducible CSF1R/IRR-receptor construct in INS-1E beta-cells.

scientific article published on July 2010

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

Clinical examples of disturbed IGF signaling: intrauterine and postnatal growth retardation due to mutations of the insulin-like growth factor I receptor (IGF-IR) gene

scientific article published on 01 August 2005

Combined pituitary hormone deficiency due to gross deletions in the POU1F1 (PIT-1) and PROP1 genes.

scientific article published on 30 March 2017

Comparative analysis of the signaling capabilities of the insulin receptor-related receptor

scientific article

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

Dominant-negative STAT5B mutations cause growth hormone insensitivity with short stature and mild immune dysregulation.

scientific article

Estrogen modulates plasminogen promoter activity.

scientific article published on 18 July 2013

Evidence against a direct effect of leptin on insulin-like growth factor-I (IGF-I), IGFBP-2 and IGF-I receptor expression in human SK-N-MC neuroepithelioma cells

scientific article

From GHRH to IGF-1 and downstream: clinical phenotypes and biological mechanisms.

scientific article published on September 2011

Functional and clinical relevance of novel and known PCSK1 variants for childhood obesity and glucose metabolism

scientific article published on 08 December 2016

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

scientific article

Genetic analysis of GHR should contain sequencing of all coding exons and specific intron sequences, and screening for exon deletions.

scientific article published on 3 December 2013

Genetics of Human Stature: Insight from Single Gene Disorders ⬇️

scientific article published on September 7, 2011

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

IGF1R mutations as cause of SGA ⬇️

scientific article published on February 1, 2011

Identification of SLC20A1 and SLC15A4 among other genes as potential risk factors for combined pituitary hormone deficiency

scientific article published on 26 October 2017

Identification of three novel plasminogen (PLG) gene mutations in a series of 23 patients with low PLG activity.

scientific article published on 21 December 2010

Molecular and clinical spectrum of type I plasminogen deficiency: A series of 50 patients

scientific article published on 18 July 2006

Novel Mutations in the Asparagine Synthetase Gene (ASNS) Associated With Microcephaly.

scientific article published on 13 July 2018

Novel heterozygous IGF1R mutation in two brothers with developing impaired glucose tolerance

scientific article published on 01 January 2015

Obesity in childhood and adolescence: a review in the interface between adipocyte physiology and clinical challenges

scientific article

Physiology of obesity in childhood and adolescence

scholarly article published April 2006

Pituitary transcription factors in the aetiology of combined pituitary hormone deficiency ⬇️

scientific article published on February 1, 2011

Screening a large pediatric cohort with GH deficiency for mutations in genes regulating pituitary development and GH secretion: Frequencies, phenotypes and growth outcomes

scientific article published on 25 September 2018

The interaction of glucocorticoids and progesterone distinctively affects epithelial sodium transport.

scientific article published on 31 August 2014

List of works by Jürgen Klammt

A Comprehensive Cohort Analysis Comparing Growth and GH Therapy Response in IGF1R Mutation Carriers and SGA Children

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 GH1 mutation in a family with isolated growth hormone deficiency type II

A unique case of a patient with partial trisomy 22 and lipodystrophy: is it a new syndrome due to an IGF-IR mutation?

Activation of Erk1/2 phosphorylation but not of Akt/Pkb through an inducible CSF1R/IRR-receptor construct in INS-1E beta-cells.

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

Clinical examples of disturbed IGF signaling: intrauterine and postnatal growth retardation due to mutations of the insulin-like growth factor I receptor (IGF-IR) gene

Combined pituitary hormone deficiency due to gross deletions in the POU1F1 (PIT-1) and PROP1 genes.

Comparative analysis of the signaling capabilities of the insulin receptor-related receptor

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

Dominant-negative STAT5B mutations cause growth hormone insensitivity with short stature and mild immune dysregulation.

Estrogen modulates plasminogen promoter activity.

Evidence against a direct effect of leptin on insulin-like growth factor-I (IGF-I), IGFBP-2 and IGF-I receptor expression in human SK-N-MC neuroepithelioma cells

From GHRH to IGF-1 and downstream: clinical phenotypes and biological mechanisms.

Functional and clinical relevance of novel and known PCSK1 variants for childhood obesity and glucose metabolism

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

Genetic analysis of GHR should contain sequencing of all coding exons and specific intron sequences, and screening for exon deletions.

Genetics of Human Stature: Insight from Single Gene Disorders ⬇️

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

IGF1R mutations as cause of SGA ⬇️

Identification of SLC20A1 and SLC15A4 among other genes as potential risk factors for combined pituitary hormone deficiency

Identification of three novel plasminogen (PLG) gene mutations in a series of 23 patients with low PLG activity.

Molecular and clinical spectrum of type I plasminogen deficiency: A series of 50 patients

Novel Mutations in the Asparagine Synthetase Gene (ASNS) Associated With Microcephaly.

Novel heterozygous IGF1R mutation in two brothers with developing impaired glucose tolerance

Obesity in childhood and adolescence: a review in the interface between adipocyte physiology and clinical challenges

Physiology of obesity in childhood and adolescence

Pituitary transcription factors in the aetiology of combined pituitary hormone deficiency ⬇️

Screening a large pediatric cohort with GH deficiency for mutations in genes regulating pituitary development and GH secretion: Frequencies, phenotypes and growth outcomes

The interaction of glucocorticoids and progesterone distinctively affects epithelial sodium transport.