List of works - Stephanie B Seminara

A GPR54-activating mutation in a patient with central precocious puberty.

scientific article

A case of Kallmann syndrome carrying a missense mutation in alternatively spliced exon 8A encoding the immunoglobulin-like domain IIIb of fibroblast growth factor receptor 1

scientific article

A genetic basis for functional hypothalamic amenorrhea

scientific article

A locus for autosomal recessive idiopathic hypogonadotropic hypogonadism on chromosome 19p13.3.

scientific article published on 01 June 2003

A role for kisspeptins in the regulation of gonadotropin secretion in the mouse.

scientific article

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

scientific article

Aromatase inhibition in the human male reveals a hypothalamic site of estrogen feedback

scientific article published on 01 September 2000

Assessing Sex Steroid Influence on Kisspeptin Responsiveness in Idiopathic Hypogonadotropic Hypogonadism

scientific article published on 20 September 2018

Ataxia and hypogonadism caused by the loss of ubiquitin ligase activity of the U box protein CHIP

scientific article

Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination

scientific article (publication date: 23 May 2013)

Autosomal recessive idiopathic hypogonadotropic hypogonadism: genetic analysis excludes mutations in the gonadotropin-releasing hormone (GnRH) and GnRH receptor genes

scientific article (publication date: June 2003)

CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome

scientific article

Central precocious puberty due to hypothalamic hamartomas correlates with anatomic features but not with expression of GnRH, TGFalpha, or KISS1.

scientific article

Characterization of the human nasal embryonic LHRH factor gene, NELF, and a mutation screening among 65 patients with idiopathic hypogonadotropic hypogonadism (IHH)

scientific article

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

scientific article published in November 2006

Continuous Kisspeptin Administration in Postmenopausal Women: Impact of Estradiol on Luteinizing Hormone Secretion.

scientific article published on 20 March 2017

Continuous human metastin 45-54 infusion desensitizes G protein-coupled receptor 54-induced gonadotropin-releasing hormone release monitored indirectly in the juvenile male Rhesus monkey (Macaca mulatta): a finding with therapeutic implications

scientific article published on 9 February 2006

Converging at puberty's hub.

scientific article published in November 2007

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

scientific article published on 01 May 2017

DLG2 variants in patients with pubertal disorders

scientific article published on 28 April 2020

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

scientific article published on May 2010

Different Cerebellar Ataxia Phenotypes Associated with Mutations of the PNPLA6 Gene in Brazilian Patients with Recessive Ataxias

scientific article published on 16 December 2017

Differential regulation of gonadotropin secretion by testosterone in the human male: absence of a negative feedback effect of testosterone on follicle-stimulating hormone secretion

scientific article

Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism

scientific article

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

scientific article published on 14 February 2018

Divergent responses to kisspeptin in children with delayed puberty

scientific article published on 19 April 2018

Effect of continuous intravenous administration of human metastin 45-54 on the neuroendocrine activity of the hypothalamic-pituitary-testicular axis in the adult male rhesus monkey (Macaca mulatta).

scientific article

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

scientific article published on 24 October 2020

Evidence from the Agonadal Juvenile Male Rhesus Monkey (Macaca mulatta) for the View that the Action of Neurokinin B to Trigger Gonadotropin-Releasing Hormone Release Is Upstream from the Kisspeptin Receptor ⬇️

scientific article published on August 10, 2011

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

scientific article

Expanding the phenotype and genotype of female GnRH deficiency

scientific article

Fatness and fertility: which direction?

scientific article

Four naturally occurring mutations in the human GnRH receptor affect ligand binding and receptor function

scientific article published in July 2003

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

scientific article published on 01 August 2019

GNRH1 mutations in patients with idiopathic hypogonadotropic hypogonadism

scholarly article

GNRHR mutations in a woman with idiopathic hypogonadotropic hypogonadism highlight the differential sensitivity of luteinizing hormone and follicle-stimulating hormone to gonadotropin-releasing hormone

scientific article published in July 2004

GWAS meta-analysis highlights the hypothalamic-pituitary-gonadal axis (HPG axis) in the genetic regulation of menstrual cycle length

Genetic approaches to unraveling reproductive disorders: examples of bedside to bench research in the genomic era.

scientific article

Genetics of hypogonadotropic hypogonadism

scientific article

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

scientific article

Gonadotropin-Releasing Hormone Deficiency in the Human (Idiopathic Hypogonadotropic Hypogonadism and Kallmann’s Syndrome): Pathophysiological and Genetic Considerations ⬇️

scientific article published on 01 October 1998

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

scientific article

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

scientific article

Human genetics of GPR54

scientific article

Hypogonadotrophic hypogonadism: a unique biological opportunity

scientific article published on 01 October 1999

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

scientific article published on 06 May 2020

Hypogonadotropic hypogonadism

scientific article published on 01 December 1998

Hypogonadotropic hypogonadism and cerebellar ataxia: detailed phenotypic characterization of a large, extended kindred

scientific article published in April 2002

Hypogonadotropic hypogonadism and cleft lip and palate caused by a balanced translocation producing haploinsufficiency for FGFR1

scientific article

Hypothalamic Reproductive Endocrine Pulse Generator Activity Independent of Neurokinin B and Dynorphin Signaling

scientific article published on 01 October 2019

Implantation failure in female Kiss1-/- mice is independent of their hypogonadic state and can be partially rescued by leukemia inhibitory factor

scientific article

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

scientific article published on 01 September 2020

Increased hypothalamic GPR54 signaling: a potential mechanism for initiation of puberty in primates

scientific article

Inhibin B in males with gonadotropin-releasing hormone (GnRH) deficiency: changes in serum concentration after shortterm physiologic GnRH replacement--a clinical research center study

scientific article published on 01 October 1996

Inhibin B secretion in males with gonadotropin-releasing hormone (GnRH) deficiency before and during long-term GnRH replacement: relationship to spontaneous puberty, testicular volume, and prior treatment--a clinical research center study

scientific article published on 01 October 1996

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

scientific article published on 01 May 2020

Interplay between dose and frequency of GnRH administration in determining pituitary gonadotropin responsiveness

scientific article published on 26 October 2007

Kiss1-/- mice exhibit more variable hypogonadism than Gpr54-/- mice

scientific article published on 26 June 2007

Kisspeptin Administration to Women: A Window into Endogenous Kisspeptin Secretion and GnRH Responsiveness across the Menstrual Cycle ⬇️

scientific article published on May 10, 2012

Kisspeptin Resets the Hypothalamic GnRH Clock in Men ⬇️

scientific article published on April 6, 2011

Kisspeptin Responsiveness Signals Emergence of Reproductive Endocrine Activity: Implications for Human Puberty

scientific article published on 23 May 2016

Kisspeptin and GPR54: discovery of a novel pathway in reproduction

scientific article

Kisspeptin and KISS1R: a critical pathway in the reproductive system

scientific article

Kisspeptin and Neurokinin B Signaling Network Underlies the Pubertal Increase in GnRH Release in Female Rhesus Monkeys

scientific article

Kisspeptin and clinical disorders.

scientific article published on January 2013

Kisspeptin and the hypothalamic control of reproduction: lessons from the human

scientific article

Kisspeptin deficiency leads to abnormal adrenal glands and excess steroid hormone secretion

scientific article published on 21 October 2020

Kisspeptin in reproduction

scientific article published on September 2007

LC–MS/MS quantification of a neuropeptide fragment kisspeptin-10 (NSC 741805) and characterization of its decomposition product and pharmacokinetics in rats ⬇️

scientific article published on 04 March 2013

Lack of association of hypogonadotropic genes with age at menarche: prospects for the future

scientific article published on 01 November 2008

Large-scale meta-analysis highlights the hypothalamic-pituitary-gonadal axis in the genetic regulation of menstrual cycle length

scientific article published on 01 December 2018

Mechanisms of Disease: the first kiss-a crucial role for kisspeptin-1 and its receptor, G-protein-coupled receptor 54, in puberty and reproduction

scientific article published on June 2006

Metastin and its G protein-coupled receptor, GPR54: critical pathway modulating GnRH secretion

scientific article

Mutational analysis of DAX1 in patients with hypogonadotropic hypogonadism or pubertal delay

scientific article published on 01 December 1999

Mutational analysis of TAC3 and TACR3 genes in patients with idiopathic central pubertal disorders

scientific article published on December 2012

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

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

scientific article published on 6 June 2006

Neurokinin B is critical for normal timing of sexual maturation but dispensable for adult reproductive function in female mice

scientific article

Neurokinin B stimulates GnRH release in the male monkey (Macaca mulatta) and is colocalized with kisspeptin in the arcuate nucleus

scientific article (publication date: September 2010)

New gatekeepers of reproduction: GPR54 and its cognate ligand, KiSS-1

scientific article published on 01 April 2005

New genes controlling human reproduction and how you find them

scientific article published on January 2008

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

scientific article published on 30 April 2019

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

scientific article published on November 9, 2011

Oligogenic basis of isolated gonadotropin-releasing hormone deficiency.

scientific article

Paediatric and adult-onset male hypogonadism

scientific article published on 30 May 2019

Perspective: the importance of genetic defects in humans in elucidating the complexities of the hypothalamic-pituitary-gonadal axis

scientific article

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

scientific article published on 10 August 2016

Prevalence and Phenotypic Effects of Copy Number Variants in Isolated Hypogonadotropic Hypogonadism

scientific article published in 2022

Prevalence, phenotypic spectrum, and modes of inheritance of gonadotropin-releasing hormone receptor mutations in idiopathic hypogonadotropic hypogonadism

scientific article published on 01 April 2001

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

scientific article published on March 26, 2013

Redundancy in Kiss1 expression safeguards reproduction in the mouse

scientific article

Reproductive functions of kisspeptin and Gpr54 across the life cycle of mice and men

scientific article published on 03 July 2008

Reproductive phenotypes and genotypes in men with IHH

scientific article published in 2022

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

scientific article published on January 22, 2013

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

scientific article

Role of Kisspeptin and NKB in Puberty in Nonhuman Primates: Sex Differences

scientific article published on 01 March 2019

Role of Kisspeptin and Neurokinin B Signaling in Male Rhesus Monkey Puberty

scientific article published on 01 August 2018

Role of Kisspeptin and Neurokinin B in Puberty in Female Non-Human Primates

scientific article published on 6 April 2018

SAT-411 Prepubertal Tonic Gamma-Amino Butyric Acid (GABA) Inhibition Is Upstream of Neurokinin B (NKB), Kisspeptin, and Gonadotropin Releasing Hormone (GnRH) Neuronal Network in Male Rhesus Monkeys.

scientific article published on 30 April 2019

SAT-LB070 Tachykinins Are Essential for the Induction of the Preovulatory LH Surge in Mice

scientific article published on 30 April 2019

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

scientific article

SUN-204 Transient Hypergonadotropism Upon Pubertal Entry In A Boy With Delayed Puberty And A Heterozygous Mutation In TACR3.

scientific article published on 30 April 2019

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

scientific article published on 30 April 2019

Successful use of pulsatile gonadotropin-releasing hormone (GnRH) for ovulation induction and pregnancy in a patient with GnRH receptor mutations

scientific article published on 01 February 2000

TAC3/TACR3 mutations reveal preferential activation of gonadotropin-releasing hormone release by neurokinin B in neonatal life followed by reversal in adulthood

scientific article

TACR3 mutations disrupt NK3R function through distinct mechanisms in GnRH-deficient patients.

scientific article published on 27 December 2013

Tachykinin signaling is required for the induction of the preovulatory LH surge and normal LH pulses

scientific article published on 08 June 2020

The 3rd World Conference on Kisspeptin, "Kisspeptin 2017: Brain and Beyond":Unresolved questions, challenges and future directions for the field.

scientific article published on 14 April 2018

The GPR54 gene as a regulator of puberty

scientific article (publication date: 23 October 2003)

The Reproductive Endocrine Associates of the Massachusetts General Hospital: fifteen years of integrated clinical practice and investigation.

scientific article

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 genetic and clinical heterogeneity of gonadotropin-releasing hormone deficiency in the human

scientific article published on 01 December 1996

The genetic architecture of sporadic and multiple consecutive miscarriage

scientific article published on 25 November 2020

The genetics of IHH--a paradox

scientific article published on 01 August 2001

The importance of autosomal genes in Kallmann syndrome: genotype-phenotype correlations and neuroendocrine characteristics

scientific article published in April 2001

The integrated hypothalamic tachykinin-kisspeptin system as a central coordinator for reproduction

scientific article

The kisspeptin signaling pathway and its role in human isolated GnRH deficiency ⬇️

scientific article published on June 17, 2011

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

scientific article

Uncovering Novel Reproductive Defects in Neurokinin B Receptor Null Mice: Closing the Gap Between Mice and Men ⬇️

scientific article published on January 17, 2012

Use of genetic models of idiopathic hypogonadotrophic hypogonadism in mice and men to understand the mechanisms of disease ⬇️

scientific article published on August 16, 2013

Using Kisspeptin to Predict Pubertal Outcomes for Youth with Pubertal Delay

scientific article published on 31 March 2020

We all remember our first kiss: kisspeptin and the male gonadal axis

scientific article published on 01 December 2005

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

scientific article

X-linked adrenal hypoplasia congenita: a mutation in DAX1 expands the phenotypic spectrum in males and females

scientific article published on 01 December 1999

List of works by Stephanie B Seminara

A GPR54-activating mutation in a patient with central precocious puberty.

A case of Kallmann syndrome carrying a missense mutation in alternatively spliced exon 8A encoding the immunoglobulin-like domain IIIb of fibroblast growth factor receptor 1

A genetic basis for functional hypothalamic amenorrhea

A locus for autosomal recessive idiopathic hypogonadotropic hypogonadism on chromosome 19p13.3.

A role for kisspeptins in the regulation of gonadotropin secretion in the mouse.

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

Aromatase inhibition in the human male reveals a hypothalamic site of estrogen feedback

Assessing Sex Steroid Influence on Kisspeptin Responsiveness in Idiopathic Hypogonadotropic Hypogonadism

Ataxia and hypogonadism caused by the loss of ubiquitin ligase activity of the U box protein CHIP

Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination

Autosomal recessive idiopathic hypogonadotropic hypogonadism: genetic analysis excludes mutations in the gonadotropin-releasing hormone (GnRH) and GnRH receptor genes

CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome

Central precocious puberty due to hypothalamic hamartomas correlates with anatomic features but not with expression of GnRH, TGFalpha, or KISS1.

Characterization of the human nasal embryonic LHRH factor gene, NELF, and a mutation screening among 65 patients with idiopathic hypogonadotropic hypogonadism (IHH)

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

Continuous Kisspeptin Administration in Postmenopausal Women: Impact of Estradiol on Luteinizing Hormone Secretion.

Continuous human metastin 45-54 infusion desensitizes G protein-coupled receptor 54-induced gonadotropin-releasing hormone release monitored indirectly in the juvenile male Rhesus monkey (Macaca mulatta): a finding with therapeutic implications

Converging at puberty's hub.

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

DLG2 variants in patients with pubertal disorders

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

Different Cerebellar Ataxia Phenotypes Associated with Mutations of the PNPLA6 Gene in Brazilian Patients with Recessive Ataxias

Differential regulation of gonadotropin secretion by testosterone in the human male: absence of a negative feedback effect of testosterone on follicle-stimulating hormone secretion

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.

Divergent responses to kisspeptin in children with delayed puberty

Effect of continuous intravenous administration of human metastin 45-54 on the neuroendocrine activity of the hypothalamic-pituitary-testicular axis in the adult male rhesus monkey (Macaca mulatta).

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

Evidence from the Agonadal Juvenile Male Rhesus Monkey (Macaca mulatta) for the View that the Action of Neurokinin B to Trigger Gonadotropin-Releasing Hormone Release Is Upstream from the Kisspeptin Receptor ⬇️

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

Expanding the phenotype and genotype of female GnRH deficiency

Fatness and fertility: which direction?

Four naturally occurring mutations in the human GnRH receptor affect ligand binding and receptor function

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

GNRH1 mutations in patients with idiopathic hypogonadotropic hypogonadism

GNRHR mutations in a woman with idiopathic hypogonadotropic hypogonadism highlight the differential sensitivity of luteinizing hormone and follicle-stimulating hormone to gonadotropin-releasing hormone

GWAS meta-analysis highlights the hypothalamic-pituitary-gonadal axis (HPG axis) in the genetic regulation of menstrual cycle length

Genetic approaches to unraveling reproductive disorders: examples of bedside to bench research in the genomic era.

Genetics of hypogonadotropic hypogonadism

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

Gonadotropin-Releasing Hormone Deficiency in the Human (Idiopathic Hypogonadotropic Hypogonadism and Kallmann’s Syndrome): Pathophysiological and Genetic Considerations ⬇️

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

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

Human genetics of GPR54

Hypogonadotrophic hypogonadism: a unique biological opportunity

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

Hypogonadotropic hypogonadism

Hypogonadotropic hypogonadism and cerebellar ataxia: detailed phenotypic characterization of a large, extended kindred

Hypogonadotropic hypogonadism and cleft lip and palate caused by a balanced translocation producing haploinsufficiency for FGFR1

Hypothalamic Reproductive Endocrine Pulse Generator Activity Independent of Neurokinin B and Dynorphin Signaling

Implantation failure in female Kiss1-/- mice is independent of their hypogonadic state and can be partially rescued by leukemia inhibitory factor

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

Increased hypothalamic GPR54 signaling: a potential mechanism for initiation of puberty in primates

Inhibin B in males with gonadotropin-releasing hormone (GnRH) deficiency: changes in serum concentration after shortterm physiologic GnRH replacement--a clinical research center study

Inhibin B secretion in males with gonadotropin-releasing hormone (GnRH) deficiency before and during long-term GnRH replacement: relationship to spontaneous puberty, testicular volume, and prior treatment--a clinical research center study

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

Interplay between dose and frequency of GnRH administration in determining pituitary gonadotropin responsiveness

Kiss1-/- mice exhibit more variable hypogonadism than Gpr54-/- mice

Kisspeptin Administration to Women: A Window into Endogenous Kisspeptin Secretion and GnRH Responsiveness across the Menstrual Cycle ⬇️

Kisspeptin Resets the Hypothalamic GnRH Clock in Men ⬇️

Kisspeptin Responsiveness Signals Emergence of Reproductive Endocrine Activity: Implications for Human Puberty

Kisspeptin and GPR54: discovery of a novel pathway in reproduction

Kisspeptin and KISS1R: a critical pathway in the reproductive system

Kisspeptin and Neurokinin B Signaling Network Underlies the Pubertal Increase in GnRH Release in Female Rhesus Monkeys

Kisspeptin and clinical disorders.

Kisspeptin and the hypothalamic control of reproduction: lessons from the human

Kisspeptin deficiency leads to abnormal adrenal glands and excess steroid hormone secretion

Kisspeptin in reproduction

LC–MS/MS quantification of a neuropeptide fragment kisspeptin-10 (NSC 741805) and characterization of its decomposition product and pharmacokinetics in rats ⬇️

Lack of association of hypogonadotropic genes with age at menarche: prospects for the future

Large-scale meta-analysis highlights the hypothalamic-pituitary-gonadal axis in the genetic regulation of menstrual cycle length

Mechanisms of Disease: the first kiss-a crucial role for kisspeptin-1 and its receptor, G-protein-coupled receptor 54, in puberty and reproduction

Metastin and its G protein-coupled receptor, GPR54: critical pathway modulating GnRH secretion

Mutational analysis of DAX1 in patients with hypogonadotropic hypogonadism or pubertal delay

Mutational analysis of TAC3 and TACR3 genes in patients with idiopathic central pubertal disorders

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.

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