Lista de obras - Paul-Martin Holterhus - Dominio Público Uruguay

17α-hydroxylase deficiency diagnosed in early infancy caused by a novel mutation of the CYP17A1 gene

artículo científico publicado en 2014

46,XY disorder of sex development in a sudanese patient caused by a novel mutation in the HSD17B3 gene

artículo científico publicado en 2014

A Recurrent Germline Mutation in the 5'UTR of the Androgen Receptor Causes Complete Androgen Insensitivity by Activating Aberrant uORF Translation

artículo científico publicado en 2016

A Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological Development

scientific article published on 18 April 2019

A de novo 1.1Mb microdeletion of chromosome 19p13.11 provides indirect evidence for EPS15L1 to be a strong candidate for split hand split foot malformation

artículo científico publicado en 2011

A novel homozygous disruptive mutation in the SRD5A2-gene in a partially virilized patient with 5alpha-reductase deficiency

artículo científico publicado en 2002

A novel mutation of the StAR gene with congenital adrenal hyperplasia and its association with heterochromia iridis: a case report

scientific article published on 30 October 2019

Age and skin site related differences in steroid metabolism in male skin point to a key role of sebocytes in cutaneous hormone metabolism

artículo científico publicado en 2012

Analyzing the functional and structural consequences of two point mutations (P94L and A368D) in the CYP11B1 gene causing congenital adrenal hyperplasia resulting from 11-hydroxylase deficiency

scientific article published on 02 May 2006

Androgen action

artículo científico

Androgen receptor function links human sexual dimorphism to DNA methylation

artículo científico publicado en 2013

Androgen receptor gene mutations in androgen insensitivity syndrome cause distinct patterns of reduced activation of androgen-responsive promoter constructs

artículo científico publicado en 2006

Area Deprivation and Regional Disparities in Treatment and Outcome Quality of 29,284 Pediatric Patients With Type 1 Diabetes in Germany: A Cross-sectional Multicenter DPV Analysis

article

Birth Weight in Different Etiologies of Disorders of Sex Development

artículo científico publicado en 2017

CYP17A1 Intron Mutation Causing Cryptic Splicing in 17α-Hydroxylase Deficiency ⬇️

artículo científico publicado el 26 de septiembre de 2011

Carboxyl-terminal mutations in 3beta-hydroxysteroid dehydrogenase type II cause severe salt-wasting congenital adrenal hyperplasia

artículo científico publicado en 2008

Cell-line and tissue-specific signatures of androgen receptor-coregulator transcription

artículo científico publicado en 2006

Changes over time in sex assignment for disorders of sex development.

artículo científico publicado en 2014

Characterisation of three novel CYP11B1 mutations in classic and non-classic 11β-hydroxylase deficiency

artículo científico publicado en 2014

Classification of distinct baseline insulin infusion patterns in children and adolescents with type 1 diabetes on continuous subcutaneous insulin infusion therapy

artículo científico publicado en 2007

Clinical but Not Histological Outcomes in Males With 45,X/46,XY Mosaicism Vary Depending on Reason for Diagnosis

artículo científico publicado en 2019

Clinical, genetic, and structural basis of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency

artículo científico publicado en 2017

Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: functional consequences of four CYP11B1 mutations

scientific article published on 11 September 2013

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

artículo científico publicado en 2009

Congenital lipoid adrenal hyperplasia: functional characterization of three novel mutations in the STAR gene

artículo científico publicado en 2010

Copeptin in obese children and adolescents: relationships to body mass index, cortisol and gender

artículo científico publicado en 2016

Correction: Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: functional consequences of four CYP11B1 mutations

scientific article published on 18 February 2020

Deciding on gender in children with intersex conditions: considerations and controversies

artículo científico publicado en 2005

Delayed menarche in young German women with type 1 diabetes mellitus: recent results from the DPV diabetes documentation and quality management system

artículo científico publicado en 2007

Determination of 17OHPreg and DHEAS by LC-MS/MS: Impact of Age, Sex, Pubertal Stage, and BMI on the Δ5 Steroid Pathway

artículo científico publicado en 2016

Diagnosis, Therapy and Follow-Up of Diabetes Mellitus in Children and Adolescents

artículo científico publicado en 2019

Diagnosis, Therapy and Follow-up of Diabetes Mellitus in Children and Adolescents

artículo científico publicado en 2019

Differential gene-expression patterns in genital fibroblasts of normal males and 46,XY females with androgen insensitivity syndrome: evidence for early programming involving the androgen receptor

artículo científico publicado en 2003

Disorders of sex development expose transcriptional autonomy of genetic sex and androgen-programmed hormonal sex in human blood leukocytes

artículo científico publicado en 2009

Epidemiology and initial management of ambiguous genitalia at birth in Germany

artículo científico publicado en 2006

Epigenetic Repression of Androgen Receptor Transcription in Mutation-Negative Androgen Insensitivity Syndrome (AIS Type II)

artículo científico publicado en 2018

Exclusion of serum- and glucocorticoid-induced kinase 1 (SGK1) as a candidate gene for genetically heterogeneous renal pseudohypoaldosteronism type I in eight families

artículo científico publicado en 2007

Five novel mutations in the SCNN1A gene causing autosomal recessive pseudohypoaldosteronism type 1.

artículo científico publicado en 2013

Functional and structural consequences of a novel point mutation in the CYP21A2 gene causing congenital adrenal hyperplasia: potential relevance of helix C for P450 oxidoreductase-21-hydroxylase interaction

artículo científico publicado en 2008

GENETICS IN ENDOCRINOLOGY: Approaches to molecular genetic diagnosis in the management of differences/disorders of sex development (DSD): position paper of EU COST Action BM 1303 ‘DSDnet’

artículo científico publicado en 2018

GHD Diagnostics in Europe and the US: An Audit of National Guidelines and Practice

scientific article published on 08 November 2019

Gender role behavior in children with XY karyotype and disorders of sex development

artículo científico publicado en 2007

Gene expression analysis in untreated absence epilepsy demonstrates an inconsistent pattern.

artículo científico publicado en 2017

Global Application of the Assessment of Communication Skills of Paediatric Endocrinology Fellows in the Management of Differences in Sex Development Using the ESPE E-Learning.Org Portal.

artículo científico publicado en 2017

Growth Hormone Treatment for Short Stature in the USA, Germany and France: 15 Years of Surveillance in the Genetics and Neuroendocrinology of Short-Stature International Study (GeNeSIS)

scientific article published on 10 September 2018

Homozygous disruption of P450 side-chain cleavage (CYP11A1) is associated with prematurity, complete 46,XY sex reversal, and severe adrenal failure

artículo científico publicado en 2004

Hospital admission for diabetic ketoacidosis or severe hypoglycemia in 31,330 young patients with type 1 diabetes

artículo científico publicado en 2015

Hospitalization in Pediatric Diabetes: A Nationwide Analysis of all Admission Causes for Germany in 2015

scientific article published on 19 August 2019

Implementation of a liquid chromatography tandem mass spectrometry assay for eight adrenal C-21 steroids and pediatric reference data

artículo científico publicado en 2013

In vivo investigations of the effect of short- and long-term recombinant growth hormone treatment on DNA-methylation in humans

artículo científico publicado en 2015

Intrinsic androgen-dependent gene expression patterns revealed by comparison of genital fibroblasts from normal males and individuals with complete and partial androgen insensitivity syndrome

artículo científico publicado en 2007

Isoenzyme type 1 of 5alpha-reductase is abundantly transcribed in normal human genital skin fibroblasts and may play an important role in masculinization of 5alpha-reductase type 2 deficient males

artículo científico publicado en 2005

Longitudinal analyses of the steroid metabolome in obese PCOS girls with weight loss

artículo científico publicado en 2017

Low prevalence of patients with mitochondrial disease in the German/Austrian DPV diabetes registry

artículo científico publicado en 2015

Male gender identity in complete androgen insensitivity syndrome

artículo científico publicado en 2010

Management of Gonads in Adults with Androgen Insensitivity: An International Survey

artículo científico publicado en 2018

Management of disorders of sex development

artículo científico

Molecular androgen memory in sex development

artículo científico publicado en 2011

Molecular basis of androgen insensitivity syndromes

artículo científico publicado en 2020

Multiples of Median-Transformed, Normalized Reference Ranges of Steroid Profiling Data Independent of Age, Sex, and Units.

artículo científico publicado en 2018

Multiplex ligation-dependent probe amplification analysis of the NR0B1(DAX1) locus enables explanation of phenotypic differences in patients with X-linked congenital adrenal hypoplasia

artículo científico publicado en 2012

Needle-Free and Needle-Based Growth Hormone Therapy in Children: A Pooled Analysis of Three Long-Term Observational Studies

artículo científico publicado en 2018

New NR5A1 mutations and phenotypic variations of gonadal dysgenesis

artículo científico publicado en 2017

Novel Insights into 46,XY Disorders of Sex Development due to NR5A1 Gene Mutation

artículo científico publicado en 2015

Novel associations in disorders of sex development: findings from the I-DSD Registry

artículo científico publicado en 2013

Oestrogen versus androgen in hormone-replacement therapy for complete androgen insensitivity syndrome: a multicentre, randomised, double-dummy, double-blind crossover trial

artículo científico publicado en 2018

PRKAR1A and PDE4D mutations cause acrodysostosis but two distinct syndromes with or without GPCR-signaling hormone resistance

artículo científico publicado en 2012

Predicting the optimal basal insulin infusion pattern in children and adolescents on insulin pumps.

artículo científico publicado en 2013

Prenatal maternal distress seems to be associated with the infant's temperament and motor development: an explorative study.

artículo científico publicado en 2017

Puberty in disorders of somatosexual differentiation

artículo científico publicado el 1 de marzo de 2003

Reduced Androgen Receptor Expression in Genital Skin Fibroblasts From Patients With 45,X/46,XY Mosaicism

scientific article published on 01 October 2019

Relationships between 24-hour urinary free cortisol concentrations and metabolic syndrome in obese children

artículo científico publicado en 2014

Reply to: mitochondrial diabetes in Germany and Austria.

artículo científico publicado en 2016

Response to Letter to the Editor: "Clinical but Not Histological Outcomes in Males With 45,X/46,XY Mosaicism Vary Depending on Reason for Diagnosis"

scientific article published on 01 December 2019

Revealing a subclinical salt-losing phenotype in heterozygous carriers of the novel S562P mutation in the alpha subunit of the epithelial sodium channel.

artículo científico publicado en 2009

Sex Hormone Profile in Pubertal Boys With Gynecomastia and Pseudogynecomastia

scientific article published on 01 April 2020

Steroid 21-hydroxylase gene mutational spectrum in 50 Tunisian patients: characterization of three novel polymorphisms

artículo científico publicado en 2012

Steroid hormone profiles in prepubertal obese children before and after weight loss

artículo científico publicado en 2013

Stress-coping and cortisol analysis in patients with non-syndromic cleft lip and palate: an explorative study

artículo científico publicado en 2012

Targeted Resequencing of Putative Growth-Related Genes Using Whole Exome Sequencing in Patients with Severe Primary IGF-I Deficiency

artículo científico publicado en 2017

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

The Aldosterone/Renin Ratio as a Diagnostic Tool for the Diagnosis of Primary Hypoaldosteronism in Newborns and Infants.

artículo científico publicado en 2015

The basis of gender assignment in disorders of somatosexual differentiation

artículo científico publicado en 2005

The effect of hyperglycemia on neonatal immune responses in-vitro ⬇️

artículo científico publicado el 3 de marzo de 2011

The novel mutation p.Trp147Arg of the steroidogenic acute regulatory protein causes classic lipoid congenital adrenal hyperplasia with adrenal insufficiency and 46,XY disorder of sex development

artículo científico publicado en 2013

The role of gonadotropins in testicular and adrenal androgen biosynthesis pathways -insights from males with congenital hypogonadotropic hypogonadism on hCG/rFSH and on testosterone replacement

artículo científico publicado en 2020

Transcriptional response of peripheral blood mononuclear cells to recombinant human growth hormone in a routine four-days IGF-I generation test

artículo científico

Transition from gynaecomastia to lipomastia in pubertal boys

artículo científico publicado en 2020

Two novel CYP11B1 mutations in congenital adrenal hyperplasia due to steroid 11β hydroxylase deficiency in a Tunisian family ⬇️

artículo científico publicado el 22 de diciembre de 2011

Vanishing 17-Hydroxyprogesterone Concentrations in 21-Hydroxylase Deficiency.

artículo científico publicado en 2018

Weight loss in obese girls with polycystic ovarian syndrome is associated with a decrease in Anti-Muellerian Hormone concentrations

artículo científico publicado en 2017

[Life Situation of Young women with Turner Syndrome: Results of a Questionnaire-based Study in Germany]

artículo científico publicado en 2019

[Medical care of young women with Turner syndrome in Germany]

artículo científico publicado en 2019

Lista de obras de Paul-Martin Holterhus

17α-hydroxylase deficiency diagnosed in early infancy caused by a novel mutation of the CYP17A1 gene

46,XY disorder of sex development in a sudanese patient caused by a novel mutation in the HSD17B3 gene

A Recurrent Germline Mutation in the 5'UTR of the Androgen Receptor Causes Complete Androgen Insensitivity by Activating Aberrant uORF Translation

A Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological Development

A de novo 1.1Mb microdeletion of chromosome 19p13.11 provides indirect evidence for EPS15L1 to be a strong candidate for split hand split foot malformation

A novel homozygous disruptive mutation in the SRD5A2-gene in a partially virilized patient with 5alpha-reductase deficiency

A novel mutation of the StAR gene with congenital adrenal hyperplasia and its association with heterochromia iridis: a case report

Age and skin site related differences in steroid metabolism in male skin point to a key role of sebocytes in cutaneous hormone metabolism

Analyzing the functional and structural consequences of two point mutations (P94L and A368D) in the CYP11B1 gene causing congenital adrenal hyperplasia resulting from 11-hydroxylase deficiency

Androgen action

Androgen receptor function links human sexual dimorphism to DNA methylation

Androgen receptor gene mutations in androgen insensitivity syndrome cause distinct patterns of reduced activation of androgen-responsive promoter constructs

Area Deprivation and Regional Disparities in Treatment and Outcome Quality of 29,284 Pediatric Patients With Type 1 Diabetes in Germany: A Cross-sectional Multicenter DPV Analysis

Birth Weight in Different Etiologies of Disorders of Sex Development

CYP17A1 Intron Mutation Causing Cryptic Splicing in 17α-Hydroxylase Deficiency ⬇️

Carboxyl-terminal mutations in 3beta-hydroxysteroid dehydrogenase type II cause severe salt-wasting congenital adrenal hyperplasia

Cell-line and tissue-specific signatures of androgen receptor-coregulator transcription

Changes over time in sex assignment for disorders of sex development.

Characterisation of three novel CYP11B1 mutations in classic and non-classic 11β-hydroxylase deficiency

Classification of distinct baseline insulin infusion patterns in children and adolescents with type 1 diabetes on continuous subcutaneous insulin infusion therapy

Clinical but Not Histological Outcomes in Males With 45,X/46,XY Mosaicism Vary Depending on Reason for Diagnosis

Clinical, genetic, and structural basis of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency

Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: functional consequences of four CYP11B1 mutations

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

Congenital lipoid adrenal hyperplasia: functional characterization of three novel mutations in the STAR gene

Copeptin in obese children and adolescents: relationships to body mass index, cortisol and gender

Correction: Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: functional consequences of four CYP11B1 mutations

Deciding on gender in children with intersex conditions: considerations and controversies

Delayed menarche in young German women with type 1 diabetes mellitus: recent results from the DPV diabetes documentation and quality management system

Determination of 17OHPreg and DHEAS by LC-MS/MS: Impact of Age, Sex, Pubertal Stage, and BMI on the Δ5 Steroid Pathway

Diagnosis, Therapy and Follow-Up of Diabetes Mellitus in Children and Adolescents

Diagnosis, Therapy and Follow-up of Diabetes Mellitus in Children and Adolescents

Differential gene-expression patterns in genital fibroblasts of normal males and 46,XY females with androgen insensitivity syndrome: evidence for early programming involving the androgen receptor

Disorders of sex development expose transcriptional autonomy of genetic sex and androgen-programmed hormonal sex in human blood leukocytes

Epidemiology and initial management of ambiguous genitalia at birth in Germany

Epigenetic Repression of Androgen Receptor Transcription in Mutation-Negative Androgen Insensitivity Syndrome (AIS Type II)

Exclusion of serum- and glucocorticoid-induced kinase 1 (SGK1) as a candidate gene for genetically heterogeneous renal pseudohypoaldosteronism type I in eight families

Five novel mutations in the SCNN1A gene causing autosomal recessive pseudohypoaldosteronism type 1.

Functional and structural consequences of a novel point mutation in the CYP21A2 gene causing congenital adrenal hyperplasia: potential relevance of helix C for P450 oxidoreductase-21-hydroxylase interaction

GENETICS IN ENDOCRINOLOGY: Approaches to molecular genetic diagnosis in the management of differences/disorders of sex development (DSD): position paper of EU COST Action BM 1303 ‘DSDnet’

GHD Diagnostics in Europe and the US: An Audit of National Guidelines and Practice

Gender role behavior in children with XY karyotype and disorders of sex development

Gene expression analysis in untreated absence epilepsy demonstrates an inconsistent pattern.

Global Application of the Assessment of Communication Skills of Paediatric Endocrinology Fellows in the Management of Differences in Sex Development Using the ESPE E-Learning.Org Portal.

Growth Hormone Treatment for Short Stature in the USA, Germany and France: 15 Years of Surveillance in the Genetics and Neuroendocrinology of Short-Stature International Study (GeNeSIS)

Homozygous disruption of P450 side-chain cleavage (CYP11A1) is associated with prematurity, complete 46,XY sex reversal, and severe adrenal failure

Hospital admission for diabetic ketoacidosis or severe hypoglycemia in 31,330 young patients with type 1 diabetes

Hospitalization in Pediatric Diabetes: A Nationwide Analysis of all Admission Causes for Germany in 2015

Implementation of a liquid chromatography tandem mass spectrometry assay for eight adrenal C-21 steroids and pediatric reference data

In vivo investigations of the effect of short- and long-term recombinant growth hormone treatment on DNA-methylation in humans

Intrinsic androgen-dependent gene expression patterns revealed by comparison of genital fibroblasts from normal males and individuals with complete and partial androgen insensitivity syndrome

Isoenzyme type 1 of 5alpha-reductase is abundantly transcribed in normal human genital skin fibroblasts and may play an important role in masculinization of 5alpha-reductase type 2 deficient males

Longitudinal analyses of the steroid metabolome in obese PCOS girls with weight loss

Low prevalence of patients with mitochondrial disease in the German/Austrian DPV diabetes registry

Male gender identity in complete androgen insensitivity syndrome

Management of Gonads in Adults with Androgen Insensitivity: An International Survey

Management of disorders of sex development

Molecular androgen memory in sex development

Molecular basis of androgen insensitivity syndromes

Multiples of Median-Transformed, Normalized Reference Ranges of Steroid Profiling Data Independent of Age, Sex, and Units.

Multiplex ligation-dependent probe amplification analysis of the NR0B1(DAX1) locus enables explanation of phenotypic differences in patients with X-linked congenital adrenal hypoplasia

Needle-Free and Needle-Based Growth Hormone Therapy in Children: A Pooled Analysis of Three Long-Term Observational Studies

New NR5A1 mutations and phenotypic variations of gonadal dysgenesis

Novel Insights into 46,XY Disorders of Sex Development due to NR5A1 Gene Mutation

Novel associations in disorders of sex development: findings from the I-DSD Registry

Oestrogen versus androgen in hormone-replacement therapy for complete androgen insensitivity syndrome: a multicentre, randomised, double-dummy, double-blind crossover trial

PRKAR1A and PDE4D mutations cause acrodysostosis but two distinct syndromes with or without GPCR-signaling hormone resistance

Predicting the optimal basal insulin infusion pattern in children and adolescents on insulin pumps.

Prenatal maternal distress seems to be associated with the infant's temperament and motor development: an explorative study.

Puberty in disorders of somatosexual differentiation

Reduced Androgen Receptor Expression in Genital Skin Fibroblasts From Patients With 45,X/46,XY Mosaicism

Relationships between 24-hour urinary free cortisol concentrations and metabolic syndrome in obese children

Reply to: mitochondrial diabetes in Germany and Austria.

Response to Letter to the Editor: "Clinical but Not Histological Outcomes in Males With 45,X/46,XY Mosaicism Vary Depending on Reason for Diagnosis"

Revealing a subclinical salt-losing phenotype in heterozygous carriers of the novel S562P mutation in the alpha subunit of the epithelial sodium channel.

Sex Hormone Profile in Pubertal Boys With Gynecomastia and Pseudogynecomastia

Steroid 21-hydroxylase gene mutational spectrum in 50 Tunisian patients: characterization of three novel polymorphisms

Steroid hormone profiles in prepubertal obese children before and after weight loss

Stress-coping and cortisol analysis in patients with non-syndromic cleft lip and palate: an explorative study