Lista de obras -

A mathematical model for predicting the adult height of girls with advanced puberty after spontaneous growth

artículo científico publicado en 2014

A mathematical model for predicting the adult height of girls with idiopathic central precocious puberty: A European validation

artículo científico publicado en 2018

Activating mutations of the stimulatory g protein in juvenile ovarian granulosa cell tumors: a new prognostic factor?

artículo científico publicado en 2006

Adult height after cranial irradiation for optic pathway tumors: relationship with neurofibromatosis.

artículo científico publicado en 2003

Adult height and pubertal growth in Turner syndrome after treatment with recombinant growth hormone

artículo científico publicado en 2005

An analysis of the genetic factors involved in testicular descent in a cohort of 14 male patients with anorchia

artículo científico publicado en 2004

Central Precocious Puberty in Girls: An Evidence-Based Diagnosis Tree to Predict Central Nervous System Abnormalities

article

Central precocious puberty in girls: prediction of the aetiology

artículo científico publicado en 2005

Childhood craniopharyngioma: greater hypothalamic involvement before surgery is associated with higher homeostasis model insulin resistance index

artículo científico publicado en 2009

Cholestasis Reveals Severe Cortisol Deficiency in Neonatal Pituitary Stalk Interruption Syndrome

artículo científico publicado en 2016

Clinical, biological and genetic analysis of 8 cases of congenital isolated adrenocorticotrophic hormone (ACTH) deficiency

artículo científico publicado en 2011

Clinical, biological and genetic analysis of anorchia in 26 boys

artículo científico publicado en 2011

Clinical, biological and genetic analysis of prepubertal isolated ovarian cyst in 11 girls

artículo científico publicado en 2010

Congenital hypogonadotropic hypogonadism during childhood: presentation and genetic analyses in 46 boys

artículo científico publicado en 2013

Constitutional delay of puberty: presentation and inheritance pattern in 48 familial cases

artículo científico publicado en 2016

Craniopharyngioma: the pendulum of surgical management

artículo científico publicado en 2005

Diagnosis of growth hormone (GH) deficiency: comparison of pituitary stalk interruption syndrome and transient GH deficiency

artículo científico publicado en 2009

Diagnosis of idiopathic growth hormone deficiency: contributions of data on the acid-labile subunit, insulin-like growth factor (IGF)-I and-II, and IGF binding protein-3.

artículo científico publicado en 2006

Diencephalic syndrome due to hypothalamic tumor: a model of the relationship between weight and puberty onset

artículo científico publicado en 2006

Etiology of primary ovarian insufficiency in a series young girls presenting at a pediatric endocrinology center

artículo científico publicado en 2014

Factors and markers of growth hormone secretion and gonadal function in Fanconi anemia

artículo científico publicado en 2007

Factors influencing the growth hormone peak and plasma insulin-like growth factor I in young adults with pituitary stalk interruption syndrome

artículo científico publicado en 2008

Factors predicting adult height in girls with idiopathic central precocious puberty: implications for treatment

artículo científico publicado en 2002

Familial early puberty: presentation and inheritance pattern in 139 families

artículo científico publicado en 2016

Familial forms of disorders of sex development may be common if infertility is considered a comorbidity

artículo científico publicado en 2016

Genetic mutations and somatic anomalies in association with 46,XY gonadal dysgenesis

artículo científico publicado en 2015

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 monitoring as an early detection tool: a systematic review

artículo científico publicado en 2016

HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism

artículo científico publicado en 2006

Hashimoto's encephalopathy: identification and long-term outcome in children

artículo científico publicado en 2012

Hyperplasia-adenoma sequence in pituitary tumorigenesis related to aryl hydrocarbon receptor interacting protein gene mutation

artículo científico publicado en 2011

Hypothalamic-pituitary lesions in pediatric patients: endocrine symptoms often precede neuro-ophthalmic presenting symptoms

artículo científico publicado en 2012

Identification of mutations in CUL7 in 3-M syndrome

artículo científico publicado en 2005

Idiopathic central precocious puberty in 28 boys.

artículo científico publicado en 2008

Idiopathic central precocious puberty in girls: presentation factors

artículo científico publicado en 2008

Improved screening for growth hormone deficiency using logical analysis data

artículo científico publicado en 2009

Influence of tumor location on the presentation and evolution of craniopharyngiomas

scientific article published on 01 November 2005

Inhibin B and Antimüllerian Hormone as Markers of Gonadal Function after Treatment for Medulloblastoma or Posterior Fossa Ependymoma during Childhood ⬇️

artículo científico publicado el 18 de diciembre de 2010

Inhibin B and anti-Müllerian hormone as markers of gonadal function after hematopoietic cell transplantation during childhood

artículo científico publicado en 2011

Longitudinal evaluation of the hypothalamic-pituitary-testicular function in 8 boys with adrenal hypoplasia congenita (AHC) due to NR0B1 mutations

artículo científico publicado en 2012

Loss-of-function mutation in GATA4 causes anomalies of human testicular development

artículo científico publicado en 2011

Models for predicting the adult height and age at first menstruation of girls with idiopathic central precocious puberty

artículo científico publicado en 2015

Mutation analysis of NR5A1 encoding steroidogenic factor 1 in 77 patients with 46, XY disorders of sex development (DSD) including hypospadias

artículo científico publicado en 2011

Mutations in NR5A1 associated with ovarian insufficiency

artículo científico publicado en 2009

Mutations in the FOG2/ZFPM2 gene are associated with anomalies of human testis determination

artículo científico publicado en 2014

Mutations in the TSPYL1 gene associated with 46,XY disorder of sex development and male infertility

artículo científico publicado en 2009

Mutations in the human ROBO1 gene in pituitary stalk interruption syndrome

artículo científico publicado en 2017

Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies.

artículo científico publicado en 2018

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

Pituitary stalk interruption syndrome in 53 postpubertal patients: factors influencing the heterogeneity of its presentation

artículo científico publicado en 2013

Pituitary stalk interruption syndrome is characterized by genetic heterogeneity

scientific article published on 03 December 2020

Pituitary stalk interruption syndrome: diagnostic delay and sensitivity of the auxological criteria of the growth hormone research society

artículo científico publicado en 2011

Plasma inhibin B and antimüllerian hormone concentrations in boys: discriminating between congenital hypogonadotropic hypogonadism and constitutional pubertal delay

artículo científico publicado el 1 de noviembre de 2010

Precocious pubarche: distinguishing late-onset congenital adrenal hyperplasia from premature adrenarche.

artículo científico publicado en 2009

Predicting the adult height of girls with central precocious puberty.

artículo científico publicado en 2011

Premature pubarche as an indicator of how body weight influences the onset of adrenarche

artículo científico publicado en 2003

Premature pubarche before one year of age: distinguishing between mini-puberty variants and precocious puberty

artículo científico publicado en 2015

Presentation and evolution of organic central precocious puberty according to the type of CNS lesion

artículo científico publicado en 2006

Presentation of 493 consecutive girls with idiopathic central precocious puberty: a single-center study

artículo científico publicado en 2013

Selecting girls with precocious puberty for brain imaging: validation of European evidence-based diagnosis rule

artículo científico publicado en 2003

Selecting short-statured children needing growth hormone testing: derivation and validation of a clinical decision rule

artículo científico publicado en 2008

The TALE homeodomain of PBX1 is involved in human primary testis-determination

artículo científico publicado en 2019

ZNRF3 functions in mammalian sex determination by inhibiting canonical WNT signaling.

artículo científico publicado en 2018

Lista de obras de

A mathematical model for predicting the adult height of girls with advanced puberty after spontaneous growth

A mathematical model for predicting the adult height of girls with idiopathic central precocious puberty: A European validation

Activating mutations of the stimulatory g protein in juvenile ovarian granulosa cell tumors: a new prognostic factor?

Adult height after cranial irradiation for optic pathway tumors: relationship with neurofibromatosis.

Adult height and pubertal growth in Turner syndrome after treatment with recombinant growth hormone

An analysis of the genetic factors involved in testicular descent in a cohort of 14 male patients with anorchia

Central Precocious Puberty in Girls: An Evidence-Based Diagnosis Tree to Predict Central Nervous System Abnormalities

Central precocious puberty in girls: prediction of the aetiology

Childhood craniopharyngioma: greater hypothalamic involvement before surgery is associated with higher homeostasis model insulin resistance index

Cholestasis Reveals Severe Cortisol Deficiency in Neonatal Pituitary Stalk Interruption Syndrome

Clinical, biological and genetic analysis of 8 cases of congenital isolated adrenocorticotrophic hormone (ACTH) deficiency

Clinical, biological and genetic analysis of anorchia in 26 boys

Clinical, biological and genetic analysis of prepubertal isolated ovarian cyst in 11 girls

Congenital hypogonadotropic hypogonadism during childhood: presentation and genetic analyses in 46 boys

Constitutional delay of puberty: presentation and inheritance pattern in 48 familial cases

Craniopharyngioma: the pendulum of surgical management

Diagnosis of growth hormone (GH) deficiency: comparison of pituitary stalk interruption syndrome and transient GH deficiency

Diagnosis of idiopathic growth hormone deficiency: contributions of data on the acid-labile subunit, insulin-like growth factor (IGF)-I and-II, and IGF binding protein-3.

Diencephalic syndrome due to hypothalamic tumor: a model of the relationship between weight and puberty onset

Etiology of primary ovarian insufficiency in a series young girls presenting at a pediatric endocrinology center

Factors and markers of growth hormone secretion and gonadal function in Fanconi anemia

Factors influencing the growth hormone peak and plasma insulin-like growth factor I in young adults with pituitary stalk interruption syndrome

Factors predicting adult height in girls with idiopathic central precocious puberty: implications for treatment

Familial early puberty: presentation and inheritance pattern in 139 families

Familial forms of disorders of sex development may be common if infertility is considered a comorbidity

Genetic mutations and somatic anomalies in association with 46,XY gonadal dysgenesis

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 monitoring as an early detection tool: a systematic review

HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism

Hashimoto's encephalopathy: identification and long-term outcome in children

Hyperplasia-adenoma sequence in pituitary tumorigenesis related to aryl hydrocarbon receptor interacting protein gene mutation

Hypothalamic-pituitary lesions in pediatric patients: endocrine symptoms often precede neuro-ophthalmic presenting symptoms

Identification of mutations in CUL7 in 3-M syndrome

Idiopathic central precocious puberty in 28 boys.

Idiopathic central precocious puberty in girls: presentation factors

Improved screening for growth hormone deficiency using logical analysis data

Influence of tumor location on the presentation and evolution of craniopharyngiomas

Inhibin B and Antimüllerian Hormone as Markers of Gonadal Function after Treatment for Medulloblastoma or Posterior Fossa Ependymoma during Childhood ⬇️

Inhibin B and anti-Müllerian hormone as markers of gonadal function after hematopoietic cell transplantation during childhood

Longitudinal evaluation of the hypothalamic-pituitary-testicular function in 8 boys with adrenal hypoplasia congenita (AHC) due to NR0B1 mutations

Loss-of-function mutation in GATA4 causes anomalies of human testicular development

Models for predicting the adult height and age at first menstruation of girls with idiopathic central precocious puberty

Mutation analysis of NR5A1 encoding steroidogenic factor 1 in 77 patients with 46, XY disorders of sex development (DSD) including hypospadias

Mutations in NR5A1 associated with ovarian insufficiency

Mutations in the FOG2/ZFPM2 gene are associated with anomalies of human testis determination

Mutations in the TSPYL1 gene associated with 46,XY disorder of sex development and male infertility

Mutations in the human ROBO1 gene in pituitary stalk interruption syndrome

Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies.

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

Pituitary stalk interruption syndrome in 53 postpubertal patients: factors influencing the heterogeneity of its presentation

Pituitary stalk interruption syndrome is characterized by genetic heterogeneity

Pituitary stalk interruption syndrome: diagnostic delay and sensitivity of the auxological criteria of the growth hormone research society

Plasma inhibin B and antimüllerian hormone concentrations in boys: discriminating between congenital hypogonadotropic hypogonadism and constitutional pubertal delay

Precocious pubarche: distinguishing late-onset congenital adrenal hyperplasia from premature adrenarche.

Predicting the adult height of girls with central precocious puberty.

Premature pubarche as an indicator of how body weight influences the onset of adrenarche

Premature pubarche before one year of age: distinguishing between mini-puberty variants and precocious puberty

Presentation and evolution of organic central precocious puberty according to the type of CNS lesion

Presentation of 493 consecutive girls with idiopathic central precocious puberty: a single-center study

Selecting girls with precocious puberty for brain imaging: validation of European evidence-based diagnosis rule

Selecting short-statured children needing growth hormone testing: derivation and validation of a clinical decision rule

The TALE homeodomain of PBX1 is involved in human primary testis-determination

ZNRF3 functions in mammalian sex determination by inhibiting canonical WNT signaling.