List of works - Richard Quinton

Adherence to treatment in men with hypogonadotrophic hypogonadism

scientific article published on 20 September 2016

An ancient founder mutation in PROKR2 impairs human reproduction

scientific article

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

scientific article published on 11 July 2017

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

scientific article published on 28 December 2012

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

scientific article published in February 2018

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

scientific article

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

scientific article published on 20 March 2017

Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism

scientific article

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

scientific article

Fertility induction in hypogonadotropic hypogonadal men

scientific article published on 09 October 2018

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

scientific article published in December 2009

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

scientific article

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

scientific article published on 8 February 2012

Genetics of congenital hypogonadotropic hypogonadism: peculiarities and phenotype of an oligogenic disease

scientific article published on 21 March 2020

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

scientific article

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

scientific article

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

scientific article published on 09 October 2009

Is calcium supplementation always needed in patients with hypoparathyroidism?

scientific article published on 19 March 2019

Kisspeptin-54 accurately identifies hypothalamic GnRH neuronal dysfunction in men with congenital hypogonadotropic hypogonadism

scientific article published on 23 November 2020

Many women with Turner syndrome lack protective antibodies to common respiratory pathogens, Haemophilus influenzae type B and Streptococcus Pneumoniae

scientific article published on 11 April 2019

Mortality rates from COVID-19 in Spain and Italy, Lessons for the UK!

scientific article published on 19 May 2020

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

scientific article

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

scientific article

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

scientific article published on 17 June 2008

Oligogenic basis of isolated gonadotropin-releasing hormone deficiency.

scientific article

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

scientific article

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

scientific article

Reversal of idiopathic hypogonadotropic hypogonadism

article

List of works by Richard Quinton

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

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 and Constitutional Delay of Growth and Puberty Have Distinct Genetic Architectures

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

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

Fertility induction in hypogonadotropic hypogonadal men

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

Genetics of congenital hypogonadotropic hypogonadism: peculiarities and phenotype of an oligogenic disease

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

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 ⬇️

Is calcium supplementation always needed in patients with hypoparathyroidism?

Kisspeptin-54 accurately identifies hypothalamic GnRH neuronal dysfunction in men with congenital hypogonadotropic hypogonadism

Many women with Turner syndrome lack protective antibodies to common respiratory pathogens, Haemophilus influenzae type B and Streptococcus Pneumoniae

Mortality rates from COVID-19 in Spain and Italy, Lessons for the UK!

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.

Oligogenic basis of isolated gonadotropin-releasing hormone deficiency.

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

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

Reversal of idiopathic hypogonadotropic hypogonadism