Quinton, Richard

European Consensus Statement on congenital hypogonadotropic hypogonadism—pathogenesis, diagnosis and treatment

Boehm, U., Bouloux, P.-M., Dattani, M. T., de Roux, N., Dodé, C., Dunkel, L., Dwyer, A. A., Giacobini, P., Hardelin, J.-P., Juul, A., et al. (2015) · Nature Reviews Endocrinology

Hypothalamic control of reproductive hormonesSexual Differentiation and Disorders

Cited by 874

Whole-genome sequencing of patients with rare diseases in a national health system

Turro, E., Astle, W. J., Megy, K., Gräf, S., Greene, D., Shamardina, O., Allen, H. L., Sanchis-Juan, A., Frontini, M., Thys, C., et al. (2020) · Nature

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 554

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

Falardeau, J., Chung, W. C. J., Beenken, A., Raivio, T., Plummer, L., Sidis, Y., Jacobson-Dickman, E. E., Eliseenkova, A. V., Ma, J., Dwyer, A., et al. (2008) · Journal of Clinical Investigation

Hypothalamic control of reproductive hormonesGenetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

Cited by 397

Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism

Pitteloud, N., Quinton, R., Pearce, S., Raivio, T., Acierno, J., Dwyer, A., Plummer, L., Hughes, V., Seminara, S., Cheng, Y.-Z., et al. (2007) · Journal of Clinical Investigation

Hypothalamic control of reproductive hormonesSexual Differentiation and Disorders

Cited by 379

Pituitary apoplexy: a review of clinical presentation, management and outcome in 45 cases

Sibal, L., Ball, S. G., Connolly, V., James, R. A., Kane, P., Kelly, W. F., Kendall-Taylor, P., Mathias, D., Perros, P., Quinton, R., et al. (2004) · Pituitary

Pituitary Gland Disorders and TreatmentsAcute Ischemic Stroke Management

Cited by 309

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

Gianetti, E., Tusset, C., Noel, S. D., Au, M. G., Dwyer, A. A., Hughes, V. A., Abreu, A. P., Carroll, J., Trarbach, E., Silveira, L. F. G., et al. (2010) · The Journal of Clinical Endocrinology & Metabolism

Hypothalamic control of reproductive hormonesSexual Differentiation and Disorders

Cited by 294

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

Miraoui, H., Dwyer, A. A., Sykiotis, G. P., Plummer, L., Chung, W., Feng, B., Beenken, A., Clarke, J., Pers, T. H., Dworzynski, P., et al. (2013) · The American Journal of Human Genetics

Hypothalamic control of reproductive hormonesGenomics and Rare Diseases

Cited by 267

A genetic basis for functional hypothalamic amenorrhea

Caronia, L. M., Martin, C., Welt, C. K., Sykiotis, G. P., Quinton, R., Thambundit, A., Avbelj, M., Dhruvakumar, S., Plummer, L., Hughes, V. A., et al. (2011) · New England Journal of Medicine

Hypothalamic control of reproductive hormonesPituitary Gland Disorders and Treatments

Cited by 256

Mutations in Prokineticin 2 and Prokineticin receptor 2 genes in Human Gonadotrophin-Releasing Hormone Deficiency: Molecular Genetics and Clinical Spectrum

Cole, L. W., Sidis, Y., Zhang, C., Quinton, R., Plummer, L., Pignatelli, D., Hughes, V. A., Dwyer, A. A., Raivio, T., Hayes, F. J., et al. (2008) · The Journal of Clinical Endocrinology & Metabolism

Hypothalamic control of reproductive hormonesOlfactory and Sensory Function Studies

Cited by 208

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

Pitteloud, N., Meysing, A., Quinton, R., Acierno, J. S., Dwyer, A. A., Plummer, L., Fliers, E., Boepple, P., Hayes, F., Seminara, S., et al. (2006) · Molecular and Cellular Endocrinology

Hypothalamic control of reproductive hormonesGenetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

Cited by 198

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

Tornberg, J., Sykiotis, G. P., Keefe, K., Plummer, L., Hoang, X., Hall, J. E., Quinton, R., Seminara, S. B., Hughes, V., Van Vliet, G., et al. (2011) · Proceedings of the National Academy of Sciences

Hypothalamic control of reproductive hormonesProteoglycans and glycosaminoglycans research

Cited by 177

Society for Endocrinology guidelines for testosterone replacement therapy in male hypogonadism

Jayasena, C. N., Anderson, R. A., Llahana, S., Barth, J. H., MacKenzie, F., Wilkes, S., Smith, N., Sooriakumaran, P., Minhas, S., Wu, F. C. W., et al. (2022) · Clinical Endocrinology

Hormonal and reproductive studiesAdrenal Hormones and Disorders

Cited by 147

Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency

Balasubramanian, R., Choi, J.-H., Francescatto, L., Willer, J., Horton, E. R., Asimacopoulos, E. P., Stankovic, K. M., Plummer, L., Buck, C. L., Quinton, R., et al. (2014) · Proceedings of the National Academy of Sciences

Hypothalamic control of reproductive hormonesCongenital Ear and Nasal Anomalies

Cited by 83

GnRH-Deficient Phenotypes in Humans and Mice with Heterozygous Variants in KISS1/Kiss1

Chan, Y.-M., Broder-Fingert, S., Paraschos, S., Lapatto, R., Au, M., Hughes, V., Bianco, S. D. C., Min, L., Plummer, L., Cerrato, F., et al. (2011) · The Journal of Clinical Endocrinology & Metabolism

Hypothalamic control of reproductive hormonesSexual Differentiation and Disorders

Cited by 68

When Genetic Load Does Not Correlate with Phenotypic Spectrum: Lessons from the GnRH Receptor (GNRHR)

Gianetti, E., Hall, J. E., Au, M. G., Kaiser, U. B., Quinton, R., Stewart, J. A., Metzger, D. L., Pitteloud, N., Mericq, V., Merino, P. M., et al. (2012) · The Journal of Clinical Endocrinology & Metabolism

Hypothalamic control of reproductive hormonesSexual Differentiation and Disorders

Cited by 53

Residual Adrenal Function in Autoimmune Addison's Disease: Improvement After Tetracosactide (ACTH1–24) Treatment

Gan, E. H., MacArthur, K., Mitchell, A. L., Hughes, B. A., Perros, P., Ball, S. G., James, R. A., Quinton, R., Chen, S., Furmaniak, J., et al. (2014) · The Journal of Clinical Endocrinology & Metabolism

Adrenal Hormones and DisordersStress Responses and Cortisol

Cited by 36

Transcriptome profiling of kisspeptin neurons from the mouse arcuate nucleus reveals new mechanisms in estrogenic control of fertility

Göcz, B., Rumpler, É., Sárvári, M., Skrapits, K., Takács, S., Farkas, I., Csillag, V., Trinh, S. H., Bardóczi, Z., Ruska, Y., et al. (2022) · Proceedings of the National Academy of Sciences

Hypothalamic control of reproductive hormonesRegulation of Appetite and Obesity

Cited by 35

The gonadotrophic response of Royal Marines during an operational deployment in Afghanistan

Hill, N. E., Woods, D. R., Delves, S. K., Murphy, K. G., Davison, A. S., Brett, S. J., Quinton, R., Turner, S., Stacey, M., Allsopp, A. J., et al. (2015) · Andrology

Hormonal and reproductive studiesHypothalamic control of reproductive hormones

Cited by 9

Hematopoiesis Shows Closer Correlation with Calculated Free Testosterone in Men than Total Testosterone

Woods, D. R., Hill, N. E., Neely, R. D. G., Talks, K. L., Heggie, A., & Quinton, R. (2017) · The Journal of Applied Laboratory Medicine

Hormonal and reproductive studiesSperm and Testicular Function

Cited by 5

Levothyroxine absorption test: a therapeutic strategy for improving medication adherence

Barbar, B., Hossen, S., Quinton, R., James, A., Perros, P., Pearce, S., Napier, C., Gan, E., Mitchell, A., & Mamoojee, Y. H. (2023) · Clinical Endocrinology

Medication Adherence and ComplianceThyroid Disorders and Treatments

Cited by 3