Lista de obras -

A crystallographic snapshot of tyrosine trans-phosphorylation in action

artículo científico publicado en 2008

A genetic basis for functional hypothalamic amenorrhea

artículo científico publicado en 2011

Abrupt decrease in serum testosterone levels after an oral glucose load in men: implications for screening for hypogonadism

artículo científico publicado en 2013

Acute sex steroid withdrawal reduces insulin sensitivity in healthy men with idiopathic hypogonadotropic hypogonadism

artículo científico publicado en 2007

Acute stress masking the biochemical phenotype of partial androgen insensitivity syndrome in a patient with a novel mutation in the androgen receptor.

artículo científico publicado en 2004

Adherence to treatment in men with hypogonadotrophic hypogonadism

artículo científico publicado en 2016

An ancient founder mutation in PROKR2 impairs human reproduction

artículo científico publicado en 2012

Beyond hormone replacement: quality of life in women with congenital hypogonadotropic hypogonadism

artículo científico

Chronic kidney disease in type 2 diabetic patients followed-up by primary care physicians in Switzerland: prevalence and prescription of antidiabetic drugs

artículo científico publicado en 2016

Coding sequence analysis of GNRHR and GPR54 in patients with congenital and adult-onset forms of hypogonadotropic hypogonadism

artículo científico publicado en 2006

Comparative functional analysis of two fibroblast growth factor receptor 1 (FGFR1) mutations affecting the same residue (R254W and R254Q) in isolated hypogonadotropic hypogonadism (IHH).

artículo científico publicado en 2012

Complex genetics in idiopathic hypogonadotropic hypogonadism

artículo científico publicado en 2010

Congenital Hypogonadotropic Hypogonadism and Constitutional Delay of Growth and Puberty Have Distinct Genetic Architectures

artículo científico publicado en 2018

Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations.

artículo científico publicado en 2014

Congenital idiopathic hypogonadotropic hypogonadism: evidence of defects in the hypothalamus, pituitary, and testes

artículo científico publicado en 2010

DCC/NTN1 complex mutations in patients with congenital hypogonadotropic hypogonadism impair GnRH neuron development

artículo científico publicado en 2017

Deciphering genetic disease in the genomic era: the model of GnRH deficiency.

artículo científico publicado en 2010

Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice

artículo científico publicado en 2008

Defective signaling through plexin-A1 compromises the development of the peripheral olfactory system and neuroendocrine reproductive axis in mice

artículo científico publicado en 2017

Developing and evaluating rare disease educational materials co-created by expert clinicians and patients: the paradigm of congenital hypogonadotropic hypogonadism

artículo científico publicado en 2017

Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism

artículo científico publicado en 2007

Estradiol levels in men with congenital hypogonadotropic hypogonadism and the effects of different modalities of hormonal treatment

scientific article published on 04 May 2011

Expanding the phenotype and genotype of female GnRH deficiency

artículo científico publicado en 2011

Expert consensus document: European Consensus Statement on congenital hypogonadotropic hypogonadism--pathogenesis, diagnosis and treatment

artículo científico publicado en 2015

FGFR1 and PROKR2 rare variants found in patients with combined pituitary hormone deficiencies

artículo científico publicado en 2015

Frequency of Impaired Fibroblast Growth Factor Receptor 1 Signaling as a Cause of Normosmic Idiopathic Hypogonadotropic Hypogonadism.

artículo científico publicado en 2009

GNRH1 mutations in patients with idiopathic hypogonadotropic hypogonadism

scholarly article

Genetic basis and variable phenotypic expression of Kallmann syndrome: towards a unifying theory.

artículo científico publicado en 2011

Genetic overlap in Kallmann syndrome, combined pituitary hormone deficiency, and septo-optic dysplasia

artículo científico publicado en 2012

Glycaemic, blood pressure and lipid goal attainment and chronic kidney disease stage of type 2 diabetic patients treated in primary care practices

artículo científico

GnRH-deficient phenotypes in humans and mice with heterozygous variants in KISS1/Kiss1.

artículo científico publicado en 2011

Gonadotrophin replacement for induction of fertility in hypogonadal men.

artículo científico publicado en 2014

Gonadotropin-releasing hormone receptor mutations in ageing men

artículo científico publicado en 2015

Heparan sulfate 6-O-sulfotransferase 1, a gene involved in extracellular sugar modifications, is mutated in patients with idiopathic hypogonadotrophic hypogonadism

artículo científico publicado en 2011

Hormonal control of spermatogenesis in men: therapeutic aspects in hypogonadotropic hypogonadism.

artículo científico

Human GnRH deficiency: a unique disease model to unravel the ontogeny of GnRH neurons

artículo científico publicado en 2010

Identifying the unmet health needs of patients with congenital hypogonadotropic hypogonadism using a web-based needs assessment: implications for online interventions and peer-to-peer support

artículo científico publicado en 2014

Impaired fibroblast growth factor receptor 1 signaling as a cause of normosmic idiopathic hypogonadotropic hypogonadism ⬇️

scientific article published on 09 October 2009

Increasing insulin resistance is associated with a decrease in Leydig cell testosterone secretion in men.

artículo científico publicado en 2005

Inhibition of luteinizing hormone secretion by testosterone in men requires aromatization for its pituitary but not its hypothalamic effects: evidence from the tandem study of normal and gonadotropin-releasing hormone-deficient men

artículo científico publicado en 2007

Klotho coreceptors inhibit signaling by paracrine fibroblast growth factor 8 subfamily ligands

artículo científico publicado en 2012

Loss-of-function mutation in the prokineticin 2 gene causes Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism

artículo científico publicado en 2007

MANAGEMENT OF ENDOCRINE DISEASE: Reversible hypogonadotropic hypogonadism

artículo científico publicado en 2016

Managing delayed or altered puberty in boys ⬇️

artículo científico publicado el 3 de diciembre de 2012

Mid-gut ACTH-secreting neuroendocrine tumor unmasked with (18)F-dihydroxyphenylalanine-positron emission tomography.

artículo científico publicado en 2015

Mutation screening of SEMA3A and SEMA7A in patients with congenital hypogonadotropic hypogonadism

scientific article published on 12 February 2014

Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism

artículo científico publicado en 2013

Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypes

artículo científico publicado en 2006

Mutations in fibroblast growth factor receptor 1 cause both Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism

artículo científico publicado en 2006

Mutations in prokineticin 2 and prokineticin receptor 2 genes in human gonadotrophin-releasing hormone deficiency: molecular genetics and clinical spectrum.

artículo científico publicado en 2008

Natural history of growth hormone deficiency in a pediatric cohort

scientific article published on 11 February 2015

Neuroendocrine, gonadal, placental, and obstetric phenotypes in patients with IHH and mutations in the G-protein coupled receptor, GPR54.

artículo científico publicado en 2006

New genes controlling human reproduction and how you find them

artículo científico publicado en 2008

Nonsense mutations in FGF8 gene causing different degrees of human gonadotropin-releasing deficiency.

artículo científico publicado en 2010

Novel FGF8 mutations associated with recessive holoprosencephaly, craniofacial defects, and hypothalamo-pituitary dysfunction

artículo científico publicado en 2011

Olfactory Phenotypic Spectrum in Idiopathic Hypogonadotropic Hypogonadism: Pathophysiological and Genetic Implications ⬇️

artículo científico publicado el 9 de noviembre de 2011

Oligogenic basis of isolated gonadotropin-releasing hormone deficiency.

artículo científico publicado en 2010

Patients with variations of sex development : an example of interdisciplinary care

artículo científico publicado en 2016

Predictors of outcome of long-term GnRH therapy in men with idiopathic hypogonadotropic hypogonadism.

artículo científico publicado en 2002

Prioritizing Genetic Testing in Patients With Kallmann Syndrome Using Clinical Phenotypes ⬇️

artículo científico publicado el 26 de marzo de 2013

Psychosexual development in men with congenital hypogonadotropic hypogonadism on long-term treatment: a mixed methods study

artículo científico publicado en 2015

REV-ERBα regulates Fgf21 expression in the liver via hepatic nuclear factor 6.

artículo científico publicado en 2016

Relationship between testosterone levels, insulin sensitivity, and mitochondrial function in men.

artículo científico publicado en 2005

Relative roles of inhibin B and sex steroids in the negative feedback regulation of follicle-stimulating hormone in men across the full spectrum of seminiferous epithelium function

artículo científico publicado en 2008

Responsiveness to a Physiological Regimen of GnRH Therapy and Relation to Genotype in Women With Isolated Hypogonadotropic Hypogonadism ⬇️

artículo científico publicado el 22 de enero de 2013

Reversal and relapse of hypogonadotropic hypogonadism: resilience and fragility of the reproductive neuroendocrine system.

artículo científico publicado en 2013

Reversal of idiopathic hypogonadotropic hypogonadism

article

Reversible kallmann syndrome, delayed puberty, and isolated anosmia occurring in a single family with a mutation in the fibroblast growth factor receptor 1 gene

artículo científico publicado en 2004

Role of fibroblast growth factor (FGF) signaling in the neuroendocrine control of human reproduction ⬇️

artículo científico publicado el 22 de octubre de 2011

Role of seminiferous tubular development in determining the FSH versus LH responsiveness to GnRH in early sexual maturation

artículo científico publicado en 2009

Surgical treatment of acromegaly according to the 2010 remission criteria: systematic review and meta-analysis

artículo científico publicado en 2016

Testis morphology in patients with idiopathic hypogonadotropic hypogonadism

artículo científico publicado en 2006

Testosterone Restoration by Enclomiphene Citrate in Men with Secondary Hypogonadism: Pharmacodynamics and Pharmacokinetics

artículo científico publicado en 2013

The long-term clinical follow-up and natural history of men with adult-onset idiopathic hypogonadotropic hypogonadism

artículo científico publicado en 2010

The puzzles of the prokineticin 2 pathway in human reproduction ⬇️

artículo científico publicado el 22 de octubre de 2011

The relative role of gonadal sex steroids and gonadotropin-releasing hormone pulse frequency in the regulation of follicle-stimulating hormone secretion in men.

artículo científico publicado en 2008

The role of prior pubertal development, biochemical markers of testicular maturation, and genetics in elucidating the phenotypic heterogeneity of idiopathic hypogonadotropic hypogonadism

scientific article published on 01 January 2002

The role of the prokineticin 2 pathway in human reproduction: evidence from the study of human and murine gene mutations

artículo científico publicado en 2011

Transformation of a Microprolactinoma into a Mixed Growth Hormone and Prolactin-Secreting Pituitary Adenoma ⬇️

artículo científico publicado el 12 de enero de 2012

Variations in PROKR2, but not PROK2, are associated with hypopituitarism and septo-optic dysplasia.

artículo científico publicado en 2013

When genetic load does not correlate with phenotypic spectrum: lessons from the GnRH receptor (GNRHR).

artículo científico publicado en 2012

β-Klotho deficiency protects against obesity through a crosstalk between liver, microbiota, and brown adipose tissue.

artículo científico publicado en 2017

β-Klotho deficiency shifts the gut-liver bile acid axis and induces hepatic alterations in mice

scientific article published on 26 June 2018

Lista de obras de

A crystallographic snapshot of tyrosine trans-phosphorylation in action

A genetic basis for functional hypothalamic amenorrhea

Abrupt decrease in serum testosterone levels after an oral glucose load in men: implications for screening for hypogonadism

Acute sex steroid withdrawal reduces insulin sensitivity in healthy men with idiopathic hypogonadotropic hypogonadism

Acute stress masking the biochemical phenotype of partial androgen insensitivity syndrome in a patient with a novel mutation in the androgen receptor.

Adherence to treatment in men with hypogonadotrophic hypogonadism

An ancient founder mutation in PROKR2 impairs human reproduction

Beyond hormone replacement: quality of life in women with congenital hypogonadotropic hypogonadism

Chronic kidney disease in type 2 diabetic patients followed-up by primary care physicians in Switzerland: prevalence and prescription of antidiabetic drugs

Coding sequence analysis of GNRHR and GPR54 in patients with congenital and adult-onset forms of hypogonadotropic hypogonadism

Comparative functional analysis of two fibroblast growth factor receptor 1 (FGFR1) mutations affecting the same residue (R254W and R254Q) in isolated hypogonadotropic hypogonadism (IHH).

Complex genetics in idiopathic hypogonadotropic hypogonadism

Congenital Hypogonadotropic Hypogonadism and Constitutional Delay of Growth and Puberty Have Distinct Genetic Architectures

Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations.

Congenital idiopathic hypogonadotropic hypogonadism: evidence of defects in the hypothalamus, pituitary, and testes

DCC/NTN1 complex mutations in patients with congenital hypogonadotropic hypogonadism impair GnRH neuron development

Deciphering genetic disease in the genomic era: the model of GnRH deficiency.

Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice

Defective signaling through plexin-A1 compromises the development of the peripheral olfactory system and neuroendocrine reproductive axis in mice

Developing and evaluating rare disease educational materials co-created by expert clinicians and patients: the paradigm of congenital hypogonadotropic hypogonadism

Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism

Estradiol levels in men with congenital hypogonadotropic hypogonadism and the effects of different modalities of hormonal treatment

Expanding the phenotype and genotype of female GnRH deficiency

Expert consensus document: European Consensus Statement on congenital hypogonadotropic hypogonadism--pathogenesis, diagnosis and treatment

FGFR1 and PROKR2 rare variants found in patients with combined pituitary hormone deficiencies

Frequency of Impaired Fibroblast Growth Factor Receptor 1 Signaling as a Cause of Normosmic Idiopathic Hypogonadotropic Hypogonadism.

GNRH1 mutations in patients with idiopathic hypogonadotropic hypogonadism

Genetic basis and variable phenotypic expression of Kallmann syndrome: towards a unifying theory.

Genetic overlap in Kallmann syndrome, combined pituitary hormone deficiency, and septo-optic dysplasia

Glycaemic, blood pressure and lipid goal attainment and chronic kidney disease stage of type 2 diabetic patients treated in primary care practices

GnRH-deficient phenotypes in humans and mice with heterozygous variants in KISS1/Kiss1.

Gonadotrophin replacement for induction of fertility in hypogonadal men.

Gonadotropin-releasing hormone receptor mutations in ageing men

Heparan sulfate 6-O-sulfotransferase 1, a gene involved in extracellular sugar modifications, is mutated in patients with idiopathic hypogonadotrophic hypogonadism

Hormonal control of spermatogenesis in men: therapeutic aspects in hypogonadotropic hypogonadism.

Human GnRH deficiency: a unique disease model to unravel the ontogeny of GnRH neurons

Identifying the unmet health needs of patients with congenital hypogonadotropic hypogonadism using a web-based needs assessment: implications for online interventions and peer-to-peer support

Impaired fibroblast growth factor receptor 1 signaling as a cause of normosmic idiopathic hypogonadotropic hypogonadism ⬇️

Increasing insulin resistance is associated with a decrease in Leydig cell testosterone secretion in men.

Inhibition of luteinizing hormone secretion by testosterone in men requires aromatization for its pituitary but not its hypothalamic effects: evidence from the tandem study of normal and gonadotropin-releasing hormone-deficient men

Klotho coreceptors inhibit signaling by paracrine fibroblast growth factor 8 subfamily ligands

Loss-of-function mutation in the prokineticin 2 gene causes Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism

MANAGEMENT OF ENDOCRINE DISEASE: Reversible hypogonadotropic hypogonadism

Managing delayed or altered puberty in boys ⬇️

Mid-gut ACTH-secreting neuroendocrine tumor unmasked with (18)F-dihydroxyphenylalanine-positron emission tomography.

Mutation screening of SEMA3A and SEMA7A in patients with congenital hypogonadotropic hypogonadism

Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism

Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypes

Mutations in fibroblast growth factor receptor 1 cause both Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism

Mutations in prokineticin 2 and prokineticin receptor 2 genes in human gonadotrophin-releasing hormone deficiency: molecular genetics and clinical spectrum.

Natural history of growth hormone deficiency in a pediatric cohort

Neuroendocrine, gonadal, placental, and obstetric phenotypes in patients with IHH and mutations in the G-protein coupled receptor, GPR54.

New genes controlling human reproduction and how you find them

Nonsense mutations in FGF8 gene causing different degrees of human gonadotropin-releasing deficiency.

Novel FGF8 mutations associated with recessive holoprosencephaly, craniofacial defects, and hypothalamo-pituitary dysfunction

Olfactory Phenotypic Spectrum in Idiopathic Hypogonadotropic Hypogonadism: Pathophysiological and Genetic Implications ⬇️

Oligogenic basis of isolated gonadotropin-releasing hormone deficiency.

Patients with variations of sex development : an example of interdisciplinary care

Predictors of outcome of long-term GnRH therapy in men with idiopathic hypogonadotropic hypogonadism.

Prioritizing Genetic Testing in Patients With Kallmann Syndrome Using Clinical Phenotypes ⬇️

Psychosexual development in men with congenital hypogonadotropic hypogonadism on long-term treatment: a mixed methods study

REV-ERBα regulates Fgf21 expression in the liver via hepatic nuclear factor 6.

Relationship between testosterone levels, insulin sensitivity, and mitochondrial function in men.

Relative roles of inhibin B and sex steroids in the negative feedback regulation of follicle-stimulating hormone in men across the full spectrum of seminiferous epithelium function

Responsiveness to a Physiological Regimen of GnRH Therapy and Relation to Genotype in Women With Isolated Hypogonadotropic Hypogonadism ⬇️

Reversal and relapse of hypogonadotropic hypogonadism: resilience and fragility of the reproductive neuroendocrine system.

Reversal of idiopathic hypogonadotropic hypogonadism

Reversible kallmann syndrome, delayed puberty, and isolated anosmia occurring in a single family with a mutation in the fibroblast growth factor receptor 1 gene

Role of fibroblast growth factor (FGF) signaling in the neuroendocrine control of human reproduction ⬇️

Role of seminiferous tubular development in determining the FSH versus LH responsiveness to GnRH in early sexual maturation

Surgical treatment of acromegaly according to the 2010 remission criteria: systematic review and meta-analysis

Testis morphology in patients with idiopathic hypogonadotropic hypogonadism

Testosterone Restoration by Enclomiphene Citrate in Men with Secondary Hypogonadism: Pharmacodynamics and Pharmacokinetics

The long-term clinical follow-up and natural history of men with adult-onset idiopathic hypogonadotropic hypogonadism

The puzzles of the prokineticin 2 pathway in human reproduction ⬇️

The relative role of gonadal sex steroids and gonadotropin-releasing hormone pulse frequency in the regulation of follicle-stimulating hormone secretion in men.

The role of prior pubertal development, biochemical markers of testicular maturation, and genetics in elucidating the phenotypic heterogeneity of idiopathic hypogonadotropic hypogonadism

The role of the prokineticin 2 pathway in human reproduction: evidence from the study of human and murine gene mutations

Transformation of a Microprolactinoma into a Mixed Growth Hormone and Prolactin-Secreting Pituitary Adenoma ⬇️