The DOI matches its Crossref record; 33 of the 34 references it cites were found in a registry or an index.
A Family with Hypogonadotropic Hypogonadism and Mutations in the Gonadotropin-Releasing Hormone Receptor
Open accessAbstract
Hypogonadotropic hypogonadism is often associated with anosmia in a condition known as Kallmann's syndrome. The gene for the X-linked form of Kallmann's syndrome has been mapped to chromosome Xp22.3,1 and several mutations have been described.2–4 In idiopathic hypogonadotropic hypogonadism there is no anosmia, and the involved genes have not been characterized. One possible candidate is the gene for gonadotropin-releasing hormone (GnRH), especially since hypogonadal mice with the deletion of this gene have been identified.5 However, no abnormality of the gene for GnRH has been found in several patients with idiopathic hypogonadotropic hypogonadism.6–9 The gene for the GnRH receptor . . .
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“Germ-line mutations in GNRHR were among the first genetic mutations identified in patients with IHH.71”
From The genetic and molecular basis of idiopathic hypogonadotropic hypogonadism (2009) · cites this paper as [71]
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“Gln106Arg maps to the first extracellular loop of the GnRHR and decreases GnRH binding.71”
From The genetic and molecular basis of idiopathic hypogonadotropic hypogonadism (2009) · cites this paper as [71]
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The Physiology of Gonadotropin-Releasing Hormone (GnRH) Secretion in Men and Women
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Resistance to Thyrotropin Caused by Mutations in the Thyrotropin-Receptor Gene
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Hypogonadotropic hypogonadism due to loss of function of the KiSS1-derived peptide receptor GPR54
de Roux, N., Genin, E., Carel, J.-C., Matsuda, F., Chaussain, J.-L., & Milgrom, E. (2003) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1834399100 · Cited by 2,431
The biology of infertility: research advances and clinical challenges
Matzuk, M. M., & Lamb, D. J. (2008) · Nature Medicine · doi:10.1038/nm.f.1895 · Cited by 948
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 · doi:10.1038/nrendo.2015.112 · Cited by 874
Self-citationKisspeptins and Reproduction: Physiological Roles and Regulatory Mechanisms
Pinilla, L., Aguilar, E., Diéguez, C., Millar, R. P., & Tena‐Sempere, M. (2012) · Physiological Reviews · doi:10.1152/physrev.00037.2010 · Cited by 843
Gonadotropin-Releasing Hormone Receptors
Millar, R. P., Lu, Z.-L., Pawson, A. J., Flanagan, C. A., Morgan, K., & Maudsley, S. R. (2004) · Endocrine Reviews · doi:10.1210/er.2003-0002 · Cited by 791
Metadata
- Authors
- de Roux, N., Young, J., Misrahi, M., Genet, R., Chanson, P., Schaison, G., & Milgrom, E.
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 1997-11-27
- Volume
- 337
- Issue
- 22
- Pages
- 1597-1603
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- OpenAlex
- W2015386663
- Cited by
- 518
- References
- 34
- Citations by year
- 2026: 6 · 2025: 5 · 2024: 16 · 2023: 12 · 2022: 7 · 2021: 20 · 2020: 7 · 2019: 16 · 2018: 14 · 2017: 14 · 2016: 20 · 2015: 25 · 2014: 20 · 2013: 14 · 2012: 31
- FWCI
- 11.91
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- New England Journal of Medicine (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Reproductive Medicine › Hypothalamic control of reproductive hormones
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Pituitary Gland Disorders and Treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Keywords
- hypogonadotropic hypogonadism, idiopathic hypogonadotropic hypogonadism, GnRH receptor, Kallmann syndrome, anosmia
- MeSH terms
- Adult, Amino Acid Sequence, Base Sequence, Female, Gonadotropins, Heterozygote, Humans, Hypogonadism, Gonadotropin-Releasing Hormone, Male, Pedigree, Receptors, LHRH, Point Mutation
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