Lista de obras -

A Balanced Translocation in Kallmann Syndrome Implicates a Long Noncoding RNA, RMST, as a GnRH Neuronal Regulator

scientific article published on 01 March 2020

A genetic basis for functional hypothalamic amenorrhea

artículo científico publicado en 2011

A novel FGF8 mutation in a female patient with isolated congenital anosmia

scientific article published on 13 May 2019

A shared genetic basis for self-limited delayed puberty and idiopathic hypogonadotropic hypogonadism

artículo científico publicado en 2015

An ancient founder mutation in PROKR2 impairs human reproduction

artículo científico publicado en 2012

Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination

artículo científico publicado en 2013

Burden Testing of Rare Variants Identified through Exome Sequencing via Publicly Available Control Data

scientific article published on 27 September 2018

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

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

Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome

artículo científico publicado en 2017

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

artículo científico publicado en 2008

Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism

artículo científico publicado en 2007

Discordance in the Dependence on Kisspeptin Signaling in Mini Puberty vs. Adolescent Puberty: Human Genetic Evidence.

artículo científico publicado en 2018

Evaluating co-created patient-facing materials to increase understanding of genetic test results

artículo científico publicado en 2020

Exogenous kisspeptin administration as a probe of GnRH neuronal function in patients with idiopathic hypogonadotropic hypogonadism

artículo científico publicado en 2014

Expanding the Spectrum of Founder Mutations Causing Isolated Gonadotropin-Releasing Hormone Deficiency.

artículo científico publicado en 2015

Expanding the phenotype and genotype of female GnRH deficiency

artículo científico publicado en 2011

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

artículo científico publicado en 2009

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

artículo científico publicado en 2009

Functional Hypogonadotropic Hypogonadism in Men: Underlying Neuroendocrine Mechanisms and Natural History

artículo científico publicado en 2019

Functional consequences of AXL sequence variants in hypogonadotropic hypogonadism

artículo científico publicado en 2014

Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency.

artículo científico publicado en 2014

GNRH1 mutations in patients with idiopathic hypogonadotropic hypogonadism

scholarly article

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

artículo científico publicado en 2012

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

artículo científico publicado en 2011

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

Hypogonadotropic Hypogonadism due to Variants in RAB3GAP2: Expanding the Phenotypic and Genotypic spectrum of Martsolf Syndrome

artículo científico publicado en 2020

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

scientific article published on 09 October 2009

Increased Burden of Rare Sequence Variants in GnRH-Associated Genes in Women with Hypothalamic Amenorrhea

scientific article published on 01 September 2020

Insight Into the Ontogeny of GnRH Neurons From Patients Born Without a Nose

artículo científico publicado en 2020

Isolated GNRH deficiency: genotypic and phenotypic characteristics of the genetically heterogeneous Greek population

artículo científico publicado en 2016

KLB, encoding β-Klotho, is mutated in patients with congenital hypogonadotropic hypogonadism

artículo científico publicado en 2017

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

artículo científico publicado en 2007

Modeling mutant/wild-type interactions to ascertain pathogenicity of PROKR2 missense variants in patients with isolated GnRH deficiency

artículo científico publicado en 2017

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

artículo científico publicado en 2008

Next generation sequencing refines the genetic architecture of Greek GnRH deficient patients

OR11-6 Rare Sequence Variants in GnRH-Associated Genes May Contribute to Variable Susceptibility to Environmental Stressors in Functional Hypothalamic Amenorrhea.

artículo científico publicado en 2019

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

Phenotypic spectrum of POLR3B mutations: isolated hypogonadotropic hypogonadism without neurological or dental anomalies.

artículo científico publicado en 2016

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

artículo científico publicado el 26 de marzo de 2013

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

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

artículo científico publicado en 2009

SAT-LB071 Loss of Function (LoF) mutations in TCF12 Cause Autosomal Dominant Kallmann Syndrome and Reveal Network-level Interactions Between Causal Loci.

artículo científico publicado en 2019

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome

artículo científico publicado en 2017

SUN-219 Human Congenital Arhinia Is Associated with GnRH Deficiency and Primary Testicular Defects.

artículo científico publicado en 2019

TCF12 haploinsufficiency causes autosomal dominant Kallmann syndrome and reveals network-level interactions between causal loci

artículo científico publicado en 2020

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

Unilateral renal agenesis as an early marker for genetic screening in Kallmann syndrome.

artículo científico publicado en 2018

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

artículo científico publicado en 2012

Lista de obras de

A Balanced Translocation in Kallmann Syndrome Implicates a Long Noncoding RNA, RMST, as a GnRH Neuronal Regulator

A genetic basis for functional hypothalamic amenorrhea

A novel FGF8 mutation in a female patient with isolated congenital anosmia

A shared genetic basis for self-limited delayed puberty and idiopathic hypogonadotropic hypogonadism

An ancient founder mutation in PROKR2 impairs human reproduction

Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination

Burden Testing of Rare Variants Identified through Exome Sequencing via Publicly Available Control Data

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

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

Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome

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

Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism

Discordance in the Dependence on Kisspeptin Signaling in Mini Puberty vs. Adolescent Puberty: Human Genetic Evidence.

Evaluating co-created patient-facing materials to increase understanding of genetic test results

Exogenous kisspeptin administration as a probe of GnRH neuronal function in patients with idiopathic hypogonadotropic hypogonadism

Expanding the Spectrum of Founder Mutations Causing Isolated Gonadotropin-Releasing Hormone Deficiency.

Expanding the phenotype and genotype of female GnRH deficiency

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

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

Functional Hypogonadotropic Hypogonadism in Men: Underlying Neuroendocrine Mechanisms and Natural History

Functional consequences of AXL sequence variants in hypogonadotropic hypogonadism

Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency.

GNRH1 mutations in patients with idiopathic hypogonadotropic hypogonadism

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

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

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

Hypogonadotropic Hypogonadism due to Variants in RAB3GAP2: Expanding the Phenotypic and Genotypic spectrum of Martsolf Syndrome

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

Increased Burden of Rare Sequence Variants in GnRH-Associated Genes in Women with Hypothalamic Amenorrhea

Insight Into the Ontogeny of GnRH Neurons From Patients Born Without a Nose

Isolated GNRH deficiency: genotypic and phenotypic characteristics of the genetically heterogeneous Greek population

KLB, encoding β-Klotho, is mutated in patients with congenital hypogonadotropic hypogonadism

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

Modeling mutant/wild-type interactions to ascertain pathogenicity of PROKR2 missense variants in patients with isolated GnRH deficiency

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

Next generation sequencing refines the genetic architecture of Greek GnRH deficient patients

OR11-6 Rare Sequence Variants in GnRH-Associated Genes May Contribute to Variable Susceptibility to Environmental Stressors in Functional Hypothalamic Amenorrhea.

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

Oligogenic basis of isolated gonadotropin-releasing hormone deficiency.

Phenotypic spectrum of POLR3B mutations: isolated hypogonadotropic hypogonadism without neurological or dental anomalies.

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

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.

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

SAT-LB071 Loss of Function (LoF) mutations in TCF12 Cause Autosomal Dominant Kallmann Syndrome and Reveal Network-level Interactions Between Causal Loci.

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome

SUN-219 Human Congenital Arhinia Is Associated with GnRH Deficiency and Primary Testicular Defects.

TCF12 haploinsufficiency causes autosomal dominant Kallmann syndrome and reveals network-level interactions between causal loci

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 ⬇️

Unilateral renal agenesis as an early marker for genetic screening in Kallmann syndrome.

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