Lista de obras -

A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency

artículo científico publicado en 2017

A measurement of the neutron to 199 Hg magnetic moment ratio ⬇️

Absence of clinically relevant growth acceleration in untreated children with non-classical congenital adrenal hyperplasia

artículo científico

Absence of increased height velocity in the first year of life in untreated children with simple virilizing congenital adrenal hyperplasia

artículo científico publicado en 2006

Adrenal Steroid Metabolites Accumulating in Congenital Adrenal Hyperplasia Lead to Transactivation of the Glucocorticoid Receptor

artículo científico publicado en 2015

Adrenal function: A gold standard test for adrenal insufficiency in children?

artículo científico publicado en 2010

An adrenal rest tumour in the perirenal region in a patient with congenital adrenal hyperplasia due to congenital 3beta-hydroxysteroid dehydrogenase deficiency

artículo científico publicado en 2008

Androgen receptor expression is required to ensure development of adult Leydig cells and to prevent development of steroidogenic cells with adrenal characteristics in the mouse testis

article

Autosomal recessive mental retardation, deafness, ankylosis, and mild hypophosphatemia associated with a novel ANKH mutation in a consanguineous family

artículo científico publicado en 2010

Bilateral Testicular Tumors Resulting in Recurrent Cushing Disease After Bilateral Adrenalectomy.

artículo científico publicado en 2016

Birth Weight in Different Etiologies of Disorders of Sex Development

artículo científico publicado en 2017

Blood pressure in the first year of life in children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a pilot study.

artículo científico publicado en 2010

Bone mineral density and fractures in congenital adrenal hyperplasia: Findings from the dsd-LIFE study

artículo científico publicado en 2020

Cardiac function in paediatric patients with congenital adrenal hyperplasia due to 21 hydroxylase deficiency.

artículo científico publicado en 2017

Cardiovascular and metabolic risk in pediatric patients with congenital adrenal hyperplasia due to 21 hydroxylase deficiency

scientific article published on 01 August 2017

Cardiovascular health, growth and gonadal function in children and adolescents with congenital adrenal hyperplasia

artículo científico publicado en 2016

Clinical outcome of cloacal exstrophy, current status, and a change in surgical management

artículo científico publicado en 2014

Congenital adrenal hyperplasia — Pharmacologic interventions from the prenatal phase to adulthood ⬇️

artículo científico publicado el 18 de mayo de 2011

Declining free thyroxine levels over time in irradiated childhood brain tumor survivors

artículo científico publicado en 2018

Determination of a steroid profile in heel prick blood using LC-MS/MS

scientific article published on 19 February 2016

Disorders of Adrenal Steroidogenesis: Impact on Gonadal Function and Sex Development

artículo científico publicado en 2016

Evaluation of the Dutch neonatal screening for congenital adrenal hyperplasia

scientific article published on 02 February 2019

Fertility outcome and information on fertility issues in individuals with different forms of disorders of sex development: findings from the dsd-LIFE study

artículo científico publicado en 2017

GATA transcription factors in testicular adrenal rest tumours.

artículo científico publicado en 2017

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

scientific article published on 08 November 2019

Glucocorticoid Activity of Adrenal Steroid Precursors in Untreated Patients With Congenital Adrenal Hyperplasia

scientific article published on 01 November 2019

Gonadal function in adult male patients with congenital adrenal hyperplasia

artículo científico publicado en 2018

Gravitational depolarization of ultracold neutrons: Comparison with data ⬇️

scholarly article

Health status in 1040 adults with disorders of sex development (DSD): a European multicenter study

artículo científico publicado en 2018

Hormone therapy and patient satisfaction with treatment, in a large cohort of diverse disorders of sex development

artículo científico publicado en 2017

Inactivating PAPSS2 mutations in a patient with premature pubarche

artículo científico publicado en 2009

Increased prevalence of testicular adrenal rest tumours during adolescence in congenital adrenal hyperplasia

artículo científico publicado en 2014

Influence of 17-Hydroxyprogesterone, Progesterone and Sex Steroids on Mineralocorticoid Receptor Transactivation in Congenital Adrenal Hyperplasia

artículo científico publicado en 2015

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

Long-term follow-up of children with classic congenital adrenal hyperplasia: suggestions for age dependent treatment in childhood and puberty

scientific article published on 01 October 2019

MON-458 Radiological Alterations Of The Hypothalamic-pituitary Region After Craniospinal Irradiation For Medulloblastoma During Childhood

Measurement of a false electric dipole moment signal from 199Hg atoms exposed to an inhomogeneous magnetic field ⬇️

scholarly article in European Physical Journal D, vol. 69 no. 10, October 2015

Molecular characterization of testicular adrenal rest tumors in congenital adrenal hyperplasia: lesions with both adrenocortical and Leydig cell features

scientific article published on 08 December 2014

Monochorionic dizygous twins presenting with blood chimerism and discordant sex.

artículo científico publicado en 2013

New constraints on Lorentz invariance violation from the neutron electric dipole moment

Participation of adults with disorders/differences of sex development (DSD) in the clinical study dsd-LIFE: design, methodology, recruitment, data quality and study population

artículo científico publicado en 2017

Physical, social and societal functioning of children with congenital adrenal hyperplasia (CAH) and their parents, in a Dutch population.

artículo científico publicado en 2012

Prenatal Treatment with Dexamethasone in Suspected Congenital Adrenal Hyperplasia and Orofacial Cleft: a Case Report and Review of the Literature

artículo científico publicado en 2017

Prevalence of Testicular Adrenal Rest Tissue in Neonates ⬇️

artículo científico publicado el 21 de julio de 2010

Prevalence of testicular adrenal rest tumours in male children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

artículo científico publicado en 2007

Psychosocial well-being and quality of life in women with Turner syndrome

scientific article published on 23 December 2019

Repeated successful induction of fertility after replacing hydrocortisone with dexamethasone in a patient with congenital adrenal hyperplasia and testicular adrenal rest tumors

scientific article published on 22 May 2007

Revised experimental upper limit on the electric dipole moment of the neutron ⬇️

scholarly article

SAT-280 Body Mass Index at Diagnosis and Hypothalamic-Pituitary Dysfunction during Follow-Up in Childhood Brain Tumor Survivors

Salivary morning androstenedione and 17α-OH progesterone levels in childhood and puberty in patients with classic congenital adrenal hyperplasia

artículo científico publicado en 2015

Sexuality in Adults with Differences/Disorders of Sex Development (DSD): Findings from the dsd-LIFE Study

artículo científico publicado en 2019

Sexuality in Males With Congenital Adrenal Hyperplasia Resulting From 21-Hydroxylase Deficiency

scientific article published on 24 April 2019

Testicular Adrenal Rest Tumors: Current Insights on Prevalence, Characteristics, Origin, and Treatment

scientific article published on 01 August 2019

Testicular adrenal rest tumors in adult males with congenital adrenal hyperplasia: evaluation of pituitary-gonadal function before and after successful testis-sparing surgery in eight patients.

artículo científico publicado en 2006

Testicular adrenal rest tumors in patients with congenital adrenal hyperplasia can cause severe testicular damage

scientific article published on 04 June 2007

Testicular tumors in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency show functional features of adrenocortical tissue

artículo científico publicado en 2007

Thyroid function in PMM2-CDG: diagnostic approach and proposed management

artículo científico publicado en 2012

Under-reported aspects of diagnosis and treatment addressed in the Dutch-Flemish guideline for comprehensive diagnostics in disorders/differences of sex development

artículo científico publicado en 2020

Unfavourable trends in cardiovascular and metabolic risk in paediatric and adult patients with congenital adrenal hyperplasia?

artículo científico publicado en 2009

[Primary aldosteronism: new insights into familial forms]

artículo científico publicado en 2015

Lista de obras de

A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency

A measurement of the neutron to 199 Hg magnetic moment ratio ⬇️

Absence of clinically relevant growth acceleration in untreated children with non-classical congenital adrenal hyperplasia

Absence of increased height velocity in the first year of life in untreated children with simple virilizing congenital adrenal hyperplasia

Adrenal Steroid Metabolites Accumulating in Congenital Adrenal Hyperplasia Lead to Transactivation of the Glucocorticoid Receptor

Adrenal function: A gold standard test for adrenal insufficiency in children?

An adrenal rest tumour in the perirenal region in a patient with congenital adrenal hyperplasia due to congenital 3beta-hydroxysteroid dehydrogenase deficiency

Androgen receptor expression is required to ensure development of adult Leydig cells and to prevent development of steroidogenic cells with adrenal characteristics in the mouse testis

Autosomal recessive mental retardation, deafness, ankylosis, and mild hypophosphatemia associated with a novel ANKH mutation in a consanguineous family

Bilateral Testicular Tumors Resulting in Recurrent Cushing Disease After Bilateral Adrenalectomy.

Birth Weight in Different Etiologies of Disorders of Sex Development

Blood pressure in the first year of life in children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a pilot study.

Bone mineral density and fractures in congenital adrenal hyperplasia: Findings from the dsd-LIFE study

Cardiac function in paediatric patients with congenital adrenal hyperplasia due to 21 hydroxylase deficiency.

Cardiovascular and metabolic risk in pediatric patients with congenital adrenal hyperplasia due to 21 hydroxylase deficiency

Cardiovascular health, growth and gonadal function in children and adolescents with congenital adrenal hyperplasia

Clinical outcome of cloacal exstrophy, current status, and a change in surgical management

Congenital adrenal hyperplasia — Pharmacologic interventions from the prenatal phase to adulthood ⬇️

Declining free thyroxine levels over time in irradiated childhood brain tumor survivors

Determination of a steroid profile in heel prick blood using LC-MS/MS

Disorders of Adrenal Steroidogenesis: Impact on Gonadal Function and Sex Development

Evaluation of the Dutch neonatal screening for congenital adrenal hyperplasia

Fertility outcome and information on fertility issues in individuals with different forms of disorders of sex development: findings from the dsd-LIFE study

GATA transcription factors in testicular adrenal rest tumours.

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

Glucocorticoid Activity of Adrenal Steroid Precursors in Untreated Patients With Congenital Adrenal Hyperplasia

Gonadal function in adult male patients with congenital adrenal hyperplasia

Gravitational depolarization of ultracold neutrons: Comparison with data ⬇️

Health status in 1040 adults with disorders of sex development (DSD): a European multicenter study

Hormone therapy and patient satisfaction with treatment, in a large cohort of diverse disorders of sex development

Inactivating PAPSS2 mutations in a patient with premature pubarche

Increased prevalence of testicular adrenal rest tumours during adolescence in congenital adrenal hyperplasia

Influence of 17-Hydroxyprogesterone, Progesterone and Sex Steroids on Mineralocorticoid Receptor Transactivation in Congenital Adrenal Hyperplasia

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

Long-term follow-up of children with classic congenital adrenal hyperplasia: suggestions for age dependent treatment in childhood and puberty

MON-458 Radiological Alterations Of The Hypothalamic-pituitary Region After Craniospinal Irradiation For Medulloblastoma During Childhood

Measurement of a false electric dipole moment signal from 199Hg atoms exposed to an inhomogeneous magnetic field ⬇️

Molecular characterization of testicular adrenal rest tumors in congenital adrenal hyperplasia: lesions with both adrenocortical and Leydig cell features

Monochorionic dizygous twins presenting with blood chimerism and discordant sex.

New constraints on Lorentz invariance violation from the neutron electric dipole moment

Participation of adults with disorders/differences of sex development (DSD) in the clinical study dsd-LIFE: design, methodology, recruitment, data quality and study population

Physical, social and societal functioning of children with congenital adrenal hyperplasia (CAH) and their parents, in a Dutch population.

Prenatal Treatment with Dexamethasone in Suspected Congenital Adrenal Hyperplasia and Orofacial Cleft: a Case Report and Review of the Literature

Prevalence of Testicular Adrenal Rest Tissue in Neonates ⬇️

Prevalence of testicular adrenal rest tumours in male children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Psychosocial well-being and quality of life in women with Turner syndrome

Repeated successful induction of fertility after replacing hydrocortisone with dexamethasone in a patient with congenital adrenal hyperplasia and testicular adrenal rest tumors

Revised experimental upper limit on the electric dipole moment of the neutron ⬇️

SAT-280 Body Mass Index at Diagnosis and Hypothalamic-Pituitary Dysfunction during Follow-Up in Childhood Brain Tumor Survivors

Salivary morning androstenedione and 17α-OH progesterone levels in childhood and puberty in patients with classic congenital adrenal hyperplasia

Sexuality in Adults with Differences/Disorders of Sex Development (DSD): Findings from the dsd-LIFE Study

Sexuality in Males With Congenital Adrenal Hyperplasia Resulting From 21-Hydroxylase Deficiency

Testicular Adrenal Rest Tumors: Current Insights on Prevalence, Characteristics, Origin, and Treatment

Testicular adrenal rest tumors in adult males with congenital adrenal hyperplasia: evaluation of pituitary-gonadal function before and after successful testis-sparing surgery in eight patients.

Testicular adrenal rest tumors in patients with congenital adrenal hyperplasia can cause severe testicular damage

Testicular tumors in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency show functional features of adrenocortical tissue

Thyroid function in PMM2-CDG: diagnostic approach and proposed management

Under-reported aspects of diagnosis and treatment addressed in the Dutch-Flemish guideline for comprehensive diagnostics in disorders/differences of sex development

Unfavourable trends in cardiovascular and metabolic risk in paediatric and adult patients with congenital adrenal hyperplasia?

[Primary aldosteronism: new insights into familial forms]