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Lista de obras de Olaf Hiort

"Any decision is better than none" decision-making about sex of rearing for siblings with 17beta-hydroxysteroid-dehydrogenase-3 deficiency

artículo científico publicado en 2006

17beta-Hydroxysteroid dehydrogenase-3 deficiency: from pregnancy to adolescence.

artículo científico publicado en 2009

17beta-hydroxysteroid dehydrogenase type 3 deficiency as a result of a homozygous 7 base pair deletion in 17betaHSD3 gene.

artículo científico publicado en 2012

17beta-hydroxysteroid dehydrogenase-3 deficiency: a rare endocrine cause of male-to-female sex reversal

artículo científico publicado en 2006

46,XY Gonadal Dysgenesis due to a Homozygous Mutation in Desert Hedgehog (DHH) Identified by Exome Sequencing

artículo científico publicado en 2015

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

artículo científico publicado en 2014

46,XY disorders of sex development--the undermasculinised male with disorders of androgen action

artículo científico publicado en 2010

46,XY karyotype in a female phenotype fetus: a challenging diagnosis

artículo científico publicado en 2012

A Novel Point Mutation in the Hormone Binding Domain of the Androgen Receptor Associated with Partial and Minimal Androgen Insensitivity Syndrome ⬇️

artículo científico publicado el 1 de febrero de 2003

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 de novo unbalanced translocation leading to partial monosomy 9p23-pter and partial trisomy 15q25.3-qter associated with 46,XY complete gonadal dysgenesis, tall stature and mental retardation ⬇️

artículo científico publicado el 1 de octubre de 2010

A disruptive mutation in exon 3 of the GNAS gene with albright hereditary osteodystrophy, normocalcemic pseudohypoparathyroidism, and selective long transcript variant Gsalpha-L deficiency

artículo científico publicado en 2007

A new heterozygous mutation (D196N) in the Gs alpha gene as a cause for pseudohypoparathyroidism type IA in a boy who had gallstones ⬇️

artículo científico publicado el 1 de enero de 2011

A new heterozygous mutation (L338N) in the human Gsalpha (GNAS1) gene as a cause for congenital hypothyroidism in Albright's hereditary osteodystrophy

artículo científico publicado en 2003

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 missense mutation of 5-alpha reductase type 2 gene (SRD5A2) leads to severe male pseudohermaphroditism in a Turkish family

artículo científico publicado en 2005

A novel ultrapressure liquid chromatography tandem mass spectrometry method for the simultaneous determination of androstenedione, testosterone, and dihydrotestosterone in pediatric blood samples: age- and sex-specific reference data

artículo científico publicado en 2010

A positive genotype-phenotype correlation in a large cohort of patients with Pseudohypoparathyroidism Type Ia and Pseudo-pseudohypoparathyroidism and 33 newly identified mutations in the GNAS gene

artículo científico publicado en 2014

Absence of microalterations in the DAZ gene in fertile and infertile males. ⬇️

scholarly article

Addressing gaps in care of people with conditions affecting sex development and maturation

scientific article published on 12 August 2019

Altered transcription profiles of key-enzymes of androgen biosynthesis in genital skin fibroblasts from patients with 46,XY disorders of sex development (DSD).

artículo científico publicado en 2007

Alternative gender categories in different cultures: lessons to be learnt. Commentary on Lang and Kuhnle: intersexuality and alternative gender categories in non-Western cultures (Horm Res 2008;69:240-250).

artículo científico publicado en 2008

An overview of clinical activities in Endo-ERN: the need for alignment of future network criteria

artículo científico publicado en 2020

Anabolic steroids, testosterone-precursors and virilizing androgens induce distinct activation profiles of androgen responsive promoter constructs

scientific journal article

Analysis of the Wilms' Tumor Suppressor Gene (WT1) in Patients 46,XY Disorders of Sex Development ⬇️

artículo científico publicado el 20 de abril de 2011

Androgen Receptor Mutations Are Associated with Altered Epigenomic Programming as Evidenced by HOXA5 Methylation

artículo científico publicado en 2011

Androgen insensitivity syndrome

artículo científico publicado en 2012

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

Androgens and fetal growth.

artículo científico publicado en 1998

Androgens and puberty

artículo científico publicado en 2002

Array-CGH analysis in patients with syndromic and non-syndromic XY gonadal dysgenesis: evaluation of array CGH as diagnostic tool and search for new candidate loci ⬇️

artículo científico publicado el 4 de agosto de 2010

Assessing the benefits and challenges of video consultations for the treatment of children with type 1 diabetes - A qualitative study among diabetes professionals

scientific article published on 07 May 2020

Association of parvovirus B19 infection and Hashimoto's thyroiditis in children

artículo científico publicado en 2008

Birth Weight in Different Etiologies of Disorders of Sex Development

artículo científico publicado en 2017

Boy with pseudohypoparathyroidism type 1a caused by GNAS gene mutation (deltaN377), Crouzon-like craniosynostosis, and severe trauma-induced bleeding

artículo científico publicado en 2009

Can Non-Coding <b><i>NR5A1</i></b> Gene Variants Explain Phenotypes of Disorders of Sex Development?

artículo científico publicado en 2022

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

Characteristic features of reproductive hormone profiles in late adolescent and adult females with complete androgen insensitivity syndrome

artículo científico publicado en 2015

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 Findings and Follow-Up of 46,XY and 45,X/46,XY Testicular Dysgenesis

scientific article published on 10 December 2019

Clinical and molecular aspects of androgen insensitivity

artículo científico

Clinical and molecular spectrum of somatic mosaicism in androgen insensitivity syndrome

article published in 1999

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, biochemical, and genetic findings in a large pedigree of male and female patients with 5 alpha-reductase 2 deficiency

artículo científico publicado en 1996

Clinical, endocrine, and molecular genetic findings in patients with 17beta-hydroxysteroid dehydrogenase deficiency

scientific article published on 01 January 2000

Coexistence of two different pseudohypoparathyroidism subtypes (Ia and Ib) in the same kindred with independent Gs{alpha} coding mutations and GNAS imprinting defects

artículo científico publicado en 2009

Complete androgen insensitivity caused by a splice donor site mutation in intron 2 of the human androgen receptor gene resulting in an exon 2-lacking transcript with premature stop-codon and reduced expression

scientific article published on 01 January 1999

Concluding Remarks - From Bench to Bed.

artículo científico publicado en 2018

Copy number variation of two separate regulatory regions upstream of SOX9 causes isolated 46,XY or 46,XX disorder of sex development.

artículo científico publicado en 2015

Current models of care for disorders of sex development - results from an International survey of specialist centres

artículo científico publicado en 2016

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

artículo científico publicado en 2005

Defective sexual development in an infant with 46, XY, der(9)t(8;9)(q23.1;p23)mat

scientific article published on 01 March 1999

Deletion and point mutations of PTHLH cause brachydactyly type E.

artículo científico publicado en 2010

Determination of Gs alpha protein activity in Albright's hereditary osteodystrophy

artículo científico publicado en 2006

Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement

article by Giovanna Mantovani et al published August 2018 in Nature Reviews Endocrinology

Diagnosis of 5α-Reductase Deficiency in a Teenage Turkish Girl ⬇️

artículo científico publicado el 1 de febrero de 1998

Diagnostic pathways in disorders of sex development ⬇️

artículo científico publicado el 1 de mayo de 2011

Different pattern of epigenetic changes of the GNAS gene locus in patients with pseudohypoparathyroidism type Ic confirm the heterogeneity of underlying pathomechanisms in this subgroup of pseudohypoparathyroidism and the demand for a new classifica

artículo científico publicado en 2014

Differential diagnosis of disorders of sex development in Egypt.

artículo científico publicado en 2008

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

Difficulties in diagnosis and treatment of 5alpha-reductase type 2 deficiency in a newborn with 46,XY DSD.

artículo científico publicado en 2010

Disorders of sex development

artículo científico publicado en 2007

Disorders of sex development (DSD). Preface

artículo científico publicado en 2010

Disorders of sex development and hypogonadism: genetics, mechanism, and therapies.

artículo científico publicado en 2012

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

artículo científico publicado en 2009

Early manifestation of calcinosis cutis in pseudohypoparathyroidism type Ia associated with a novel mutation in the GNAS gene

artículo científico publicado en 2005

Educational and knowledge gaps within the European Reference Network on Rare Endocrine Conditions

artículo científico publicado en 2020

Effect of GH replacement therapy in two male siblings with combined X-linked hypophosphatemia and partial GH deficiency

artículo científico publicado en 2003

Effective NSAID treatment indicates that hyperprostaglandinism is affecting the clinical severity of childhood hypophosphatasia

artículo científico publicado en 2006

Effects of growth hormone treatment on adult height in severely short children with X-linked hypophosphatemic rickets

artículo científico publicado en 2017

Endoscopy and Laparoscopy in Disorders of Sex Development

artículo científico publicado en 2018

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

Epigenetic defects of GNAS in patients with pseudohypoparathyroidism and mild features of Albright's hereditary osteodystrophy

artículo científico publicado en 2007

Evaluation of DSD training schools organized by cost action BM1303 "DSDnet"

artículo científico publicado en 2018

Expression of two functionally different androgen receptors in a patient with androgen insensitivity

scientific article published on 01 September 1999

First diagnosis of Martin-Albright syndrome in a 58-year-old patient

artículo científico publicado en 2009

Follow-up Findings in a Turkish Girl with Pseudohypoparathyroidism Type Ia Caused by a Novel Heterozygous Mutation in the GNAS Gene

artículo científico publicado en 2016

From pseudohypoparathyroidism to inactivating PTH/PTHrP signalling disorder (iPPSD), a novel classification proposed by the EuroPHP network

artículo científico publicado en 2016

Functional Impact of Novel Androgen Receptor Mutations on the Clinical Manifestation of Androgen Insensitivity Syndrome.

artículo científico publicado en 2017

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

Functional assessment and clinical classification of androgen sensitivity in patients with mutations of the androgen receptor gene

article

Functional assessment and clinical classification of androgen sensitivity in patients with mutations of the androgen receptor gene. German Collaborative Intersex Study Group

artículo científico publicado en 1997

Functional characterization of GNAS mutations found in patients with pseudohypoparathyroidism type Ic defines a new subgroup of pseudohypoparathyroidism affecting selectively Gsα-receptor interaction ⬇️

artículo científico publicado el 12 de abril de 2011

Functional characterization of five NR5A1 gene mutations found in patients with 46,XY disorders of sex development

artículo científico publicado en 2017

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

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

artículo científico publicado en 2007

Genetic testing in inherited endocrine disorders: joint position paper of the European reference network on rare endocrine conditions (Endo-ERN)

artículo científico publicado en 2020

Gonadectomy in Complete Androgen Insensitivity Syndrome: Why and When?

artículo científico publicado en 2017

Gsα activity is reduced in erythrocyte membranes of patients with psedohypoparathyroidism due to epigenetic alterations at the GNAS locus

article

Health Related Quality of Life, Self-Esteem and Health Behaviour on Average 6 Years after an Obesity Outpatient Lifestyle Program

artículo científico publicado en 2017

Health-related quality of life in children with disorders of sex development (DSD).

artículo científico publicado en 2014

Hereditary vitamin D–resistant rickets (HVDRR) owing to a heterozygous mutation in the vitamin D receptor ⬇️

artículo científico publicado el 1 de noviembre de 2011

Hereditäre hypophosphatämische Rachitis ⬇️

scholarly article

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

Hormonal Management of Complete Androgen Insensitivity Syndrome from Adolescence Onward ⬇️

artículo científico publicado el 29 de noviembre de 2011

Hypophosphatemic rickets with hypercalciuria due to mutation in SLC34A3/NaPi-IIc can be masked by vitamin D deficiency and can be associated with renal calcifications

artículo científico publicado en 2008

Identification of an AR Mutation-Negative Class of Androgen Insensitivity by Determining Endogenous AR Activity

scientific article published on September 2016

Immunohistochemical detection of a sex hormone binding globulin like antigen in tissue sections of normal human prostate, benign prostatic hypertrophy and normal human endometrium

scientific article published on 01 October 1988

Immunohistochemistry and in situ hybridization of the androgen receptor in the developing human prostate ⬇️

artículo científico publicado el 1 de marzo de 1998

Immunohistochemistry of estrogen receptor protein in paraffin sections. Effects of enzymatic pretreatment and cobalt chloride intensification

scientific article published on 01 November 1988

In Vitro functional characterization of the novel DHH mutations p.(Asn337Lysfs*24) and p.(Glu212Lys) associated with gonadal dysgenesis

article

In-vitro characterization of androgen receptor mutations associated with complete androgen insensitivity syndrome reveals distinct functional deficits.

artículo científico publicado en 2008

Influence of androgens and age on androgen receptor and 5 alpha-reductase II transcription

artículo científico publicado en 2000

International networks for supporting research and clinical care in the field of disorders of sex development

artículo científico

Intersex - from gene to gender. Lubeck, Germany, 1-3 April 2004

scientific article published on 01 September 2004

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

Involving Individuals with Disorders of Sex Development and Their Parents in Exploring New Models of Shared Learning: Proceedings from a DSDnet COST Action Workshop

artículo científico publicado en 2018

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

Linear skin atrophy preceding calcinosis cutis in pseudo-pseudohypoparathyroidism

scientific article published on 02 February 2012

Long-term follow-up of a pseudohypoparathyroidism type 1A patient with missense mutation (Pro115Ser) in exon 5 ⬇️

artículo científico publicado el 7 de mayo de 2010

Long-term follow-up of bone mineral density in childhood hypophosphatasia

artículo científico publicado en 2007

Long-term management of patients with disorders of sex development (DSD).

artículo científico

Male infertility and increased risk of diseases in future generations.

artículo científico publicado en 1999

Management of disorders of sex development

artículo científico

Minor hypospadias: the "tip of the iceberg" of the partial androgen insensitivity syndrome

artículo científico publicado en 2013

Molecular Diagnosis of Multiple Endocrine Neoplasia (MEN) in Paraffin-Embedded Specimens

artículo científico

Molecular characterization of the androgen receptor gene in boys with hypospadias

article

Molecular features and clinical phenotypes in androgen insensitivity syndrome in the absence and presence of androgen receptor gene mutations.

artículo científico publicado en 2005

Molecular genetic analysis and human chorionic gonadotropin stimulation tests in the diagnosis of prepubertal patients with partial 5 alpha-reductase deficiency

artículo científico publicado en 1996

Monthly Video-Consultation for Children With Type 1 Diabetes Using a Continuous Glucose Monitoring System: Design of ViDiKi, a Multimethod Intervention Study to Evaluate the Benefit of Telemedicine

scientific article published on 17 July 2019

Mutation analysis of FOXF2 in patients with disorders of sex development (DSD) in combination with cleft palate

artículo científico publicado en 2008

Mutational Analysis of Hungarian Patients with Androgen Insensitivity Syndrome ⬇️

artículo científico publicado el 1 de marzo de 2003

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

Novel insertion frameshift mutation of the LH receptor gene: problematic clinical distinction of Leydig cell hypoplasia from enzyme defects primarily affecting testosterone biosynthesis

artículo científico publicado en 2005

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

Outcomes of monthly video consultations as an add-on to regular care for children with type 1 diabetes: a 6-month quasi-randomized clinical trial followed by an extension phase

scientific article published on 03 October 2020

P450 side-chain cleavage deficiency--a rare cause of congenital adrenal hyperplasia

artículo científico publicado en 2010

PCR-based analysis of differentially methylated regions of GNAS enables convenient diagnostic testing of pseudohypoparathyroidism type Ib

artículo científico publicado en 2008

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

artículo científico publicado en 2012

Parental expectations before and after 12-month experience with video consultations combined with regular outpatient care for children with type 1 diabetes: a qualitative study

scientific article published on 24 September 2020

Partial deletion of DMRT1 causes 46,XY ovotesticular disorder of sexual development

artículo científico publicado en 2012

Patients with disorders of sex development (DSD) at risk of gonadal tumour development: management based on laparoscopic biopsy and molecular diagnosis

artículo científico publicado en 2012

Peptide Hormone Analysis in Diagnosis and Treatment of Differences of Sex Development: Joint Position Paper of EU COST Action "DSDnet" and European Reference Network on Rare Endocrine Conditions

artículo científico publicado en 2020

Perineal ultrasound offers useful information in girls with congenital adrenal hyperplasia

artículo científico publicado en 2016

Post-zygotic mutations and somatic mosaicism in androgen insensitivity syndrome

scientific article published on 01 November 2001

Preserved Fertility in a Patient with Gynecomastia Associated with the p.Pro695Ser Mutation in the Androgen Receptor

scientific article published on 15 November 2014

Progression of Mineral Ion Abnormalities in Patients With Jansen Metaphyseal Chondrodysplasia

artículo científico publicado en 2018

Pseudohypoparathyroidism type IA (PHP-Ia): maternally inherited GNAS gene mutation

artículo científico publicado en 2009

Psychosexual development in adolescents and adults with disorders of sex development--results from the German Clinical Evaluation Study.

artículo científico publicado en 2012

Psychosexual development in children with disorder of sex development (DSD)--results from the German Clinical Evaluation Study

artículo científico publicado en 2010

Puberty in disorders of somatosexual differentiation

artículo científico publicado el 1 de marzo de 2003

RWDD1 interacts with the ligand binding domain of the androgen receptor and acts as a coactivator of androgen-dependent transactivation

artículo científico publicado en 2012

Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders: An Updated Practical Tool for Physicians and Patients

artículo científico publicado en 2020

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

scientific article published on 01 October 2019

Requirements for a multicentric multidisciplinary registry on patients with disorders of sex development.

artículo científico publicado en 2012

Resistance to GHRH but Not to PTH in a 15-Year-Old Boy With Pseudohypoparathyroidism 1A

scientific article published on 20 May 2019

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

Response to the Council of Europe Human Rights Commissioner's Issue Paper on Human Rights and Intersex People

artículo científico publicado en 2016

Satisfaction with Genital Surgery and Sexual Life of Adults with XY Disorders of Sex Development: Results from the German Clinical Evaluation Study ⬇️

artículo científico publicado el 16 de noviembre de 2011

Selective deficiency of Gsalpha and the possible role of alternative gene products of GNAS in Albright hereditary osteodystrophy and pseudohypoparathyroidism type Ia.

scientific article published on 05 August 2009

Severe Undervirilisation in a 46,XY Case Due to a Novel Mutation in HSD17B3 Gene

artículo científico publicado en 2015

Spectrum of Pathogenic Variants in SRD5A2 in Indian Children with 46,XY Disorders of Sex Development and Clinically Suspected Steroid 5α-Reductase 2 Deficiency

artículo científico publicado en 2020

Standardised data collection for clinical follow-up and assessment of outcomes in differences of sex development (DSD): recommendations from the COST action DSDnet

scientific article published on 01 November 2019

Steroid 5alpha-reductase 1 polymorphisms and testosterone/dihydrotestosterone ratio in male patients with hypospadias

artículo científico publicado en 2004

Steroid hormone analysis in diagnosis and treatment of DSD: position paper of EU COST Action BM 1303 'DSDnet'.

artículo científico publicado en 2017

Testosterone synthesis in patients with 17β-hydroxysteroid dehydrogenase 3 deficiency

artículo científico publicado en 2012

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 EuRRECa Project as a Model for Data Access and Governance Policies for Rare Disease Registries That Collect Clinical Outcomes

scientific article published on 25 November 2020

The External Genitalia Score (EGS): A European Multicenter Validation Study

artículo científico publicado en 2020

The First Egyptian-German workshop on disorders of sex development (DSD) National Research Centre, Cairo, Egypt, 24-25 November 2007.

artículo científico publicado en 2008

The Long-Term Outcome of Boys With Partial Androgen Insensitivity Syndrome and a Mutation in the Androgen Receptor Gene

artículo científico publicado en 2016

The approach to a neonate with a possible prenatal diagnosis of androgen insensitivity syndrome

artículo científico publicado en 2006

The basis of gender assignment in disorders of somatosexual differentiation

artículo científico publicado en 2005

The current landscape of European registries for rare endocrine conditions

artículo científico publicado en 2019

The differential role of androgens in early human sex development

artículo científico publicado en 2013

The molecular basis of male sexual differentiation

artículo científico publicado en 2000

The spectrum of phenotypes associated with mutations in steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) includes severe penoscrotal hypospadias in 46,XY males without adrenal insufficiency

scientific article published on 13 May 2009

Three out of four: a case discussion on ambiguous genitalia.

artículo científico publicado en 2008

Three-Year Growth Hormone Treatment in Short Children with X-Linked Hypophosphatemic Rickets: Effects on Linear Growth and Body Disproportion ⬇️

artículo científico publicado el 12 de octubre de 2011

Tissue-specific transcription profiles of sex steroid biosynthesis enzymes and the androgen receptor

artículo científico publicado en 2006

Transcription of androgen receptor and 5alpha-reductase II in genital fibroblasts from patients with androgen insensitivity syndrome

artículo científico publicado en 2000

Transition from insulin to sulfonylurea in a child with diabetes due to a mutation in KCNJ11 encoding Kir6.2--initial and long-term response to sulfonylurea therapy

artículo científico publicado en 2008

True hermaphroditism with 46,XY karyotype and a point mutation in the SRY gene

scientific article published on 01 June 1995

Understanding differences and disorders of sex development. Foreword

scientific article published on 01 January 2014

Understanding the needs of professionals who provide psychosocial care for children and adults with disorders of sex development

artículo científico publicado en 2017

Uniparental Disomy in Somatic Mosaicism 45,X/46,XY/46,XX Associated with Ambiguous Genitalia.

artículo científico publicado en 2015

Utilization of health care services and satisfaction with care in adults affected by disorders of sex development (DSD).

artículo científico publicado en 2014

Validation of a next-generation sequencing (NGS) panel to improve the diagnosis of X-linked hypophosphataemia (XLH) and other genetic disorders of renal phosphate wasting

artículo científico publicado en 2020

We used to call them hermaphrodites

artículo científico publicado en 2007

[Calcinosis cutis in Albright hereditary osteodystrophy: pseudohypoparathyroidism type Ia]

scientific article published on 01 October 2006

[Incomplete androgen insensitivity]

scientific article published on 01 September 2006

[Intersexual children. Who decides on their sex?].

artículo científico publicado en 2004

[The creation of a data protection policy: a guide to telemedicine healthcare projects]

artículo científico publicado en 2019

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