Lista de obras -

A comparison of echocardiography and magnetic resonance imaging in cardiovascular screening of adults with Turner syndrome.

artículo científico publicado en 2004

A critical assessment of case reports describing absent uterus in subjects with oestrogen deficiency

artículo científico publicado en 2019

A dose-response study of hormone replacement in young hypogonadal women: effects on intima media thickness and metabolism

artículo científico publicado en 2007

A homozygous R262Q mutation in the gonadotropin-releasing hormone receptor presenting as constitutional delay of growth and puberty with subsequent borderline oligospermia

artículo científico publicado en 2006

Adipokine dysregulation in turner syndrome: comparison of circulating interleukin-6 and leptin concentrations with measures of adiposity and C-reactive protein.

artículo científico publicado en 2005

Adulthood in women with Turner syndrome

artículo científico publicado en 2003

Altered cortisol metabolism in polycystic ovary syndrome: insulin enhances 5alpha-reduction but not the elevated adrenal steroid production rates

artículo científico publicado en 2003

Analysis of LIN28A in early human ovary development and as a candidate gene for primary ovarian insufficiency ⬇️

artículo científico publicado en 2012

Analysis of multiple data sets reveals no association between the insulin gene variable number tandem repeat element and polycystic ovary syndrome or related traits

artículo científico publicado en 2005

Androgen and psychosexual development: core gender identity, sexual orientation and recalled childhood gender role behavior in women and men with congenital adrenal hyperplasia (CAH)

artículo científico publicado en 2004

Androgenic influences on neural asymmetry: Handedness and language lateralization in individuals with congenital adrenal hyperplasia

artículo científico publicado en 2004

Androgens and autistic traits: A study of individuals with congenital adrenal hyperplasia

artículo científico publicado en 2006

Bone mineral density in complete androgen insensitivity syndrome and the timing of gonadectomy

artículo científico publicado en 2017

Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting

artículo científico publicado en 2017

Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline

artículo científico publicado en 2018

Congenital adrenal hyperplasia in adults: a review of medical, surgical and psychological issues

artículo científico publicado en 2006

Cortical anatomy in human X monosomy

artículo científico publicado en 2009

Determinants of dyslipidaemia in probands with polycystic ovary syndrome and their sisters

artículo científico publicado en 2011

Determinants of interleukin-6 and C-reactive protein vary in polycystic ovary syndrome, as do effects of short- and long-term metformin therapy.

artículo científico publicado en 2009

Effects of Estrogen Therapies on Outcomes in Turner Syndrome: Assessment of Induction of Puberty and Adult Estrogen Use

artículo científico publicado en 2019

Emotional and sexual wellness and quality of life in women with Rokitansky syndrome

artículo científico publicado en 2011

Erratum to “Cortical anatomy in human X monosomy” [NeuroImage 49 (2010) 2915–2923]

article

Establishing reproductive potential and advances in fertility preservation techniques for XY individuals with differences in sex development

artículo científico publicado en 2019

Evaluation of retained testes in adolescent girls and women with complete androgen insensitivity syndrome

artículo científico publicado en 2013

Excess visceral and hepatic adipose tissue in Turner syndrome determined by magnetic resonance imaging: estrogen deficiency associated with hepatic adipose content

artículo científico publicado en 2005

Experience in optimizing fertility outcomes in men with congenital adrenal hyperplasia due to 21 hydroxylase deficiency

artículo científico

Fracture rate in women with oestrogen deficiency - Comparison of Turner syndrome and premature ovarian insufficiency

scientific article published on 06 November 2019

Functional consequences of seven novel mutations in the CYP11B1 gene: four mutations associated with nonclassic and three mutations causing classic 11{beta}-hydroxylase deficiency

artículo científico publicado en 2010

Guidelines for the Development of Comprehensive Care Centers for Congenital Adrenal Hyperplasia: Guidance from the CARES Foundation Initiative

artículo científico publicado en 2010

Hearing impairment and low bone mineral density increase the risk of bone fractures in women with Turner's syndrome

artículo científico publicado en 2006

Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function.

artículo científico publicado en 2007

High risk pregnancies in hypopituitary women

scientific article published on 01 June 2002

Hormone replacement treatment choices in complete androgen insensitivity syndrome: an audit of an adult clinic

artículo científico publicado en 2017

How do you monitor the patient with Turner's syndrome in adulthood?

artículo científico publicado en 2010

Large-scale analysis of the relationship between CYP11A promoter variation, polycystic ovarian syndrome, and serum testosterone

artículo científico publicado en 2004

Long-term health issues of women with XY karyotype

artículo científico publicado en 2010

Metformin increases fasting plasma peptide tyrosine tyrosine (PYY) in women with polycystic ovarian syndrome (PCOS).

artículo científico publicado en 2008

Motor development in individuals with congenital adrenal hyperplasia: strength, targeting, and fine motor skill

artículo científico publicado en 2008

Next-Generation Sequencing Reveals Novel Genetic Variants (SRY, DMRT1, NR5A1, DHH, DHX37) in Adults With 46,XY DSD

scientific article published on 10 October 2019

Normalization of the vagina by dilator treatment alone in Complete Androgen Insensitivity Syndrome and Mayer-Rokitansky-Kuster-Hauser Syndrome

artículo científico publicado en 2007

Oestrogen deficiency and growth hormone treatment in childhood are not associated with hearing in adults with turner syndrome

artículo científico publicado en 2004

Outcome of bilateral adrenalectomy in congenital adrenal hyperplasia: one unit's experience

artículo científico publicado en 2006

Outcome of ovarian stimulation for oocyte cryopreservation in women with Turner syndrome

scientific article published on 28 December 2018

Ovarian Morphology Is a Marker of Heritable Biochemical Traits in Sisters With Polycystic Ovaries

Ovarian morphology is a marker of heritable biochemical traits in sisters with polycystic ovaries

artículo científico publicado en 2008

Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome

artículo científico publicado en 2019

Pathogenic variants in the human m6A reader YTHDC2 are associated with primary ovarian insufficiency

artículo científico publicado en 2022

Perrault Syndrome

artículo científico publicado en 2018

Perrault syndrome: further evidence for genetic heterogeneity

artículo científico publicado en 2011

Personality and congenital adrenal hyperplasia: possible effects of prenatal androgen exposure

artículo científico publicado en 2008

Practice changes in childhood surgery for ambiguous genitalia?

artículo científico publicado en 2014

Quality of life in adults with congenital adrenal hyperplasia relates to glucocorticoid treatment, adiposity and insulin resistance: United Kingdom Congenital adrenal Hyperplasia Adult Study Executive (CaHASE).

artículo científico publicado en 2013

Quantification of the adverse effect of ethinylestradiol containing oral contraceptive pills when used in conjunction with growth hormone replacement in routine practice.

artículo científico

Recognition of 5α-reductase-2 deficiency in an adult female 46XY DSD clinic

artículo científico publicado en 2011

Reduced uterine volume after induction of puberty in women with hypogonadism

artículo científico publicado en 2019

Relationship and sexual experiences in women with early onset oestrogen deficiency: comparison between women with Turner syndrome and premature ovarian insufficiency

artículo científico publicado en 2020

STAG3 truncating variant as the cause of primary ovarian insufficiency

artículo científico publicado en 2015

Screening for mutations in 17β-hydroxysteroid dehydrogenase and androgen receptor in women presenting with partially virilised 46,XY disorders of sex development

artículo científico publicado en 2015

Sexual Experience before Treatment for Vaginal Agenesis: A Retrospective Review of 137 Women

scientific article published on 21 December 2018

Sexual function and genital sensitivity following feminizing genitoplasty for congenital adrenal hyperplasia

artículo científico publicado en 2007

Sexual function in women with complete androgen insensitivity syndrome

artículo científico publicado en 2003

Swyer syndrome.

artículo científico publicado en 2014

The Turner syndrome life course project: Karyotype-phenotype analyses across the lifespan.

artículo científico publicado en 2017

The pathophysiology of polycystic ovary syndrome

artículo científico publicado en 2004

Timing of gonadectomy in adult women with complete androgen insensitivity syndrome (CAIS): patient preferences and clinical evidence ⬇️

artículo científico publicado el 1 de junio de 2012

Uterus size and ovarian morphology in women with isolated growth hormone deficiency, hypogonadotrophic hypogonadism and hypopituitarism

artículo científico publicado en 2004

Variants implicated in cortisone reductase deficiency do not contribute to susceptibility to common forms of polycystic ovary syndrome

artículo científico publicado en 2006

Vasculopathy in Turner syndrome: arterial dilatation and intimal thickening without endothelial dysfunction

scientific article published on 28 June 2005

XY females: revisiting the diagnosis

artículo científico publicado en 2005

Lista de obras de

A comparison of echocardiography and magnetic resonance imaging in cardiovascular screening of adults with Turner syndrome.

A critical assessment of case reports describing absent uterus in subjects with oestrogen deficiency

A dose-response study of hormone replacement in young hypogonadal women: effects on intima media thickness and metabolism

A homozygous R262Q mutation in the gonadotropin-releasing hormone receptor presenting as constitutional delay of growth and puberty with subsequent borderline oligospermia

Adipokine dysregulation in turner syndrome: comparison of circulating interleukin-6 and leptin concentrations with measures of adiposity and C-reactive protein.

Adulthood in women with Turner syndrome

Altered cortisol metabolism in polycystic ovary syndrome: insulin enhances 5alpha-reduction but not the elevated adrenal steroid production rates

Analysis of LIN28A in early human ovary development and as a candidate gene for primary ovarian insufficiency ⬇️

Analysis of multiple data sets reveals no association between the insulin gene variable number tandem repeat element and polycystic ovary syndrome or related traits

Androgen and psychosexual development: core gender identity, sexual orientation and recalled childhood gender role behavior in women and men with congenital adrenal hyperplasia (CAH)

Androgenic influences on neural asymmetry: Handedness and language lateralization in individuals with congenital adrenal hyperplasia

Androgens and autistic traits: A study of individuals with congenital adrenal hyperplasia

Bone mineral density in complete androgen insensitivity syndrome and the timing of gonadectomy

Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting

Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline

Congenital adrenal hyperplasia in adults: a review of medical, surgical and psychological issues

Cortical anatomy in human X monosomy

Determinants of dyslipidaemia in probands with polycystic ovary syndrome and their sisters

Determinants of interleukin-6 and C-reactive protein vary in polycystic ovary syndrome, as do effects of short- and long-term metformin therapy.

Effects of Estrogen Therapies on Outcomes in Turner Syndrome: Assessment of Induction of Puberty and Adult Estrogen Use

Emotional and sexual wellness and quality of life in women with Rokitansky syndrome

Erratum to “Cortical anatomy in human X monosomy” [NeuroImage 49 (2010) 2915–2923]

Establishing reproductive potential and advances in fertility preservation techniques for XY individuals with differences in sex development

Evaluation of retained testes in adolescent girls and women with complete androgen insensitivity syndrome

Excess visceral and hepatic adipose tissue in Turner syndrome determined by magnetic resonance imaging: estrogen deficiency associated with hepatic adipose content

Experience in optimizing fertility outcomes in men with congenital adrenal hyperplasia due to 21 hydroxylase deficiency

Fracture rate in women with oestrogen deficiency - Comparison of Turner syndrome and premature ovarian insufficiency

Functional consequences of seven novel mutations in the CYP11B1 gene: four mutations associated with nonclassic and three mutations causing classic 11{beta}-hydroxylase deficiency

Guidelines for the Development of Comprehensive Care Centers for Congenital Adrenal Hyperplasia: Guidance from the CARES Foundation Initiative

Hearing impairment and low bone mineral density increase the risk of bone fractures in women with Turner's syndrome

Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function.

High risk pregnancies in hypopituitary women

Hormone replacement treatment choices in complete androgen insensitivity syndrome: an audit of an adult clinic

How do you monitor the patient with Turner's syndrome in adulthood?

Large-scale analysis of the relationship between CYP11A promoter variation, polycystic ovarian syndrome, and serum testosterone

Long-term health issues of women with XY karyotype

Metformin increases fasting plasma peptide tyrosine tyrosine (PYY) in women with polycystic ovarian syndrome (PCOS).

Motor development in individuals with congenital adrenal hyperplasia: strength, targeting, and fine motor skill

Next-Generation Sequencing Reveals Novel Genetic Variants (SRY, DMRT1, NR5A1, DHH, DHX37) in Adults With 46,XY DSD

Normalization of the vagina by dilator treatment alone in Complete Androgen Insensitivity Syndrome and Mayer-Rokitansky-Kuster-Hauser Syndrome

Oestrogen deficiency and growth hormone treatment in childhood are not associated with hearing in adults with turner syndrome

Outcome of bilateral adrenalectomy in congenital adrenal hyperplasia: one unit's experience

Outcome of ovarian stimulation for oocyte cryopreservation in women with Turner syndrome

Ovarian Morphology Is a Marker of Heritable Biochemical Traits in Sisters With Polycystic Ovaries

Ovarian morphology is a marker of heritable biochemical traits in sisters with polycystic ovaries

Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome

Pathogenic variants in the human m6A reader YTHDC2 are associated with primary ovarian insufficiency

Perrault Syndrome

Perrault syndrome: further evidence for genetic heterogeneity

Personality and congenital adrenal hyperplasia: possible effects of prenatal androgen exposure

Practice changes in childhood surgery for ambiguous genitalia?

Quality of life in adults with congenital adrenal hyperplasia relates to glucocorticoid treatment, adiposity and insulin resistance: United Kingdom Congenital adrenal Hyperplasia Adult Study Executive (CaHASE).

Quantification of the adverse effect of ethinylestradiol containing oral contraceptive pills when used in conjunction with growth hormone replacement in routine practice.

Recognition of 5α-reductase-2 deficiency in an adult female 46XY DSD clinic

Reduced uterine volume after induction of puberty in women with hypogonadism

Relationship and sexual experiences in women with early onset oestrogen deficiency: comparison between women with Turner syndrome and premature ovarian insufficiency

STAG3 truncating variant as the cause of primary ovarian insufficiency

Screening for mutations in 17β-hydroxysteroid dehydrogenase and androgen receptor in women presenting with partially virilised 46,XY disorders of sex development

Sexual Experience before Treatment for Vaginal Agenesis: A Retrospective Review of 137 Women

Sexual function and genital sensitivity following feminizing genitoplasty for congenital adrenal hyperplasia

Sexual function in women with complete androgen insensitivity syndrome

Swyer syndrome.

The Turner syndrome life course project: Karyotype-phenotype analyses across the lifespan.

The pathophysiology of polycystic ovary syndrome

Timing of gonadectomy in adult women with complete androgen insensitivity syndrome (CAIS): patient preferences and clinical evidence ⬇️

Uterus size and ovarian morphology in women with isolated growth hormone deficiency, hypogonadotrophic hypogonadism and hypopituitarism

Variants implicated in cortisone reductase deficiency do not contribute to susceptibility to common forms of polycystic ovary syndrome

Vasculopathy in Turner syndrome: arterial dilatation and intimal thickening without endothelial dysfunction

XY females: revisiting the diagnosis