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Evaluating co‐created patient‐facing materials to increase understanding of genetic test results.
- Published in:
- Journal of Genetic Counseling, 2021, v. 30, n. 2, p. 598, doi. 10.1002/jgc4.1348
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- Publication type:
- Article
Reproductive Phenotypes and Genotypes in Men With IHH.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2023, v. 108, n. 4, p. 897, doi. 10.1210/clinem/dgac615
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- Publication type:
- Article
Kisspeptin Overcomes GnRH Neuronal Suppression Secondary to Hyperprolactinemia in Humans.
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- Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 8, p. e3515, doi. 10.1210/clinem/dgac166
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- Publication type:
- Article
Increased Burden of Rare Sequence Variants in GnRH-Associated Genes in Women With Hypothalamic Amenorrhea.
- Published in:
- 2021
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- Publication type:
- journal article
Using Kisspeptin to Predict Pubertal Outcomes for Youth With Pubertal Delay.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2020, v. 105, n. 8, p. 1, doi. 10.1210/clinem/dgaa162
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- Publication type:
- Article
Using Kisspeptin to Predict Pubertal Outcomes for Youth With Pubertal Delay.
- Published in:
- 2020
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- Publication type:
- journal article
Fatness and fertility: which direction?
- Published in:
- Journal of Clinical Investigation, 2014, v. 124, n. 7, p. 2853, doi. 10.1172/JCI76623
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- Publication type:
- Article
How human genetic context can inform pathogenicity classification: FGFR1 variation in idiopathic hypogonadotropic hypogonadism.
- Published in:
- Human Genetics, 2023, v. 142, n. 11, p. 1611, doi. 10.1007/s00439-023-02601-w
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- Publication type:
- Article
Different Cerebellar Ataxia Phenotypes Associated with Mutations of the PNPLA6 Gene in Brazilian Patients with Recessive Ataxias.
- Published in:
- Cerebellum, 2018, v. 17, n. 3, p. 380, doi. 10.1007/s12311-017-0909-y
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- Publication type:
- Article
Characterization of the human nasal embryonic LHRH factor gene, NELF, and a mutation screening among 65 patients with idiopathic hypogonadotropic hypogonadism (IHH).
- Published in:
- Journal of Human Genetics, 2004, v. 49, n. 5, p. 265, doi. 10.1007/s10038-004-0137-4
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- Publication type:
- Article
Tachykinin Signaling Is Required for Induction of the Preovulatory Luteinizing Hormone Surge and Normal Luteinizing Hormone Pulses.
- Published in:
- Neuroendocrinology, 2021, v. 111, n. 6, p. 542, doi. 10.1159/000509222
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- Publication type:
- Article
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.
- Published in:
- Neuroendocrinology, 2011, v. 94, n. 3, p. 237, doi. 10.1159/000329045
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- Publication type:
- Article
Human GnRH Deficiency: A Unique Disease Model to Unravel the Ontogeny of GnRH Neurons.
- Published in:
- Neuroendocrinology, 2010, v. 92, n. 2, p. 81, doi. 10.1159/000314193
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- Publication type:
- Article
Continuous Kisspeptin Administration in Postmenopausal Women: Impact of Estradiol on Luteinizing Hormone Secretion.
- Published in:
- 2017
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- Publication type:
- journal article
Kisspeptin Responsiveness Signals Emergence of Reproductive Endocrine Activity: Implications for Human Puberty.
- Published in:
- 2016
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- Publication type:
- journal article
A shared genetic basis for self-limited delayed puberty and idiopathic hypogonadotropic hypogonadism.
- Published in:
- 2015
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- Publication type:
- journal article
Exogenous kisspeptin administration as a probe of GnRH neuronal function in patients with idiopathic hypogonadotropic hypogonadism.
- Published in:
- 2014
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- Publication type:
- journal article
Reversal and relapse of hypogonadotropic hypogonadism: resilience and fragility of the reproductive neuroendocrine system.
- Published in:
- 2014
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- Publication type:
- journal article
Prioritizing genetic testing in patients with Kallmann syndrome using clinical phenotypes.
- Published in:
- 2013
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- Publication type:
- journal article
Kisspeptin administration to women: a window into endogenous kisspeptin secretion and GnRH responsiveness across the menstrual cycle.
- Published in:
- 2012
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- Publication type:
- journal article
Olfactory phenotypic spectrum in idiopathic hypogonadotropic hypogonadism: pathophysiological and genetic implications.
- Published in:
- 2012
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- Publication type:
- journal article
Kisspeptin resets the hypothalamic GnRH clock in men.
- Published in:
- 2011
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- Publication type:
- journal article
Expanding the phenotype and genotype of female GnRH deficiency.
- Published in:
- 2011
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- Publication type:
- journal article
Lack of Association of Hypogonadotropic Genes with Age at Menarche: Prospects for the Future.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2008, v. 93, n. 11, p. 4224, doi. 10.1210/jc.2008-2010
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- Publication type:
- Article
Mutations in prokineticin 2 and prokineticin receptor 2 genes in human gonadotrophin-releasing hormone deficiency: molecular genetics and clinical spectrum.
- Published in:
- 2008
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- Publication type:
- journal article
Editorial: We All Remember Our First Kiss: Kisspeptin and the Male Gonadal Axis.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2005, v. 90, n. 12, p. 6738, doi. 10.1210/jc.2005-2246
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- Publication type:
- Article
We all remember our first kiss: kisspeptin and the male gonadal axis.
- Published in:
- 2005
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- Publication type:
- commentary
GNRHR Mutations in a Woman with Idiopathic Hypogonadotropic Hypogonadism Highlight the Differential Sensitivity of Luteinizing Hormone and Follicle-Stimulating Hormone to Gonadotropin-Releasing Hormone.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2004, v. 89, n. 7, p. 3189, doi. 10.1210/jc.2003-031808
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- Publication type:
- 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.
- Published in:
- 2004
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- Publication type:
- journal article
A Locus for Autosomal Recessive Idiopathic Hypogonadotropic Hypogonadism on Chromosome 19p13.3
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2003, v. 88, n. 6, p. 2947, doi. 10.1210/jc.2003-030423
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- Publication type:
- Article
A locus for autosomal recessive idiopathic hypogonadotropic hypogonadism on chromosome 19p13.3.
- Published in:
- 2003
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- Publication type:
- journal article
Hypogonadotropic hypogonadism and cerebellar ataxia: detailed phenotypic characterization of a large, extended kindred.
- Published in:
- 2002
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- Publication type:
- journal article
The role of prior pubertal development, biochemical markers of testicular maturation, and genetics in elucidating the phenotypic heterogeneity of idiopathic hypogonadotropic hypogonadism.
- Published in:
- 2002
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- Publication type:
- journal article
The Importance of Autosomal Genes in Kallmann Syndrome: Genotype-Phenotype Correlations and Neuroendocrine Characteristics.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2001, v. 86, n. 4, p. 1532, doi. 10.1210/jcem.86.4.7420
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- Publication type:
- Article
Differential Regulation of Gonadotropin Secretion by Testosterone in the Human Male: Absence of a Negative Feedback Effect of Testosterone on Follicle-Stimulating Hormone Secretion.
- Published in:
- 2001
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- Publication type:
- journal article
X-Linked Adrenal Hypoplasia Congenita: A Mutation in DAX1 Expands the Phenotypic Spectrum in Males and Females.
- Published in:
- 1999
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- Publication type:
- journal article
Mutational Analysis of DAX1 in Patients with Hypogonadotropic Hypogonadism or Pubertal Delay.
- Published in:
- 1999
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- Publication type:
- journal article
Defective FGFR1 Signaling Disrupts Glucose Regulation: Evidence From Humans With FGFR1 Mutations.
- Published in:
- Journal of the Endocrine Society, 2024, v. 8, n. 8, p. 1, doi. 10.1210/jendso/bvae118
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- Publication type:
- Article
Review of human genetic and clinical studies directly relevant to GnRH signalling.
- Published in:
- Journal of Neuroendocrinology, 2022, v. 34, n. 5, p. 1, doi. 10.1111/jne.13080
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- Publication type:
- Article
POU6F2 mutation in humans with pubertal failure alters GnRH transcript expression.
- Published in:
- Frontiers in Endocrinology, 2023, p. 01, doi. 10.3389/fendo.2023.1203542
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- Publication type:
- Article
Coding sequence analysis of GNRHR and GPR54 in patients with congenital and adult-onset forms of hypogonadotropic hypogonadism.
- Published in:
- European Journal of Endocrinology, 2006, p. S3, doi. 10.1530/eje.1.02235
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- Publication type:
- Article
TACR3 mutations disrupt NK3R function through distinct mechanisms in GnRH-deficient patients.
- Published in:
- FASEB Journal, 2014, v. 28, n. 4, p. 1924, doi. 10.1096/fj.13-240630
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- Publication type:
- Article
Kisspeptin deficiency leads to abnormal adrenal glands and excess steroid hormone secretion.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 20, p. 3443, doi. 10.1093/hmg/ddaa215
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- Publication type:
- Article
Ataxia and hypogonadism caused by the loss of ubiquitin ligase activity of the U box protein CHIP.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 4, p. 1013, doi. 10.1093/hmg/ddt497
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- Publication type:
- Article
Role of Kisspeptin and Neurokinin B in Puberty in Female Non-Human Primates.
- Published in:
- Frontiers in Endocrinology, 2018, p. 1, doi. 10.3389/fendo.2018.00148
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- Publication type:
- Article
Deciphering Genetic Disease in the Genomic Era: The Model of GnRH Deficiency.
- Published in:
- Science Translational Medicine, 2010, v. 2, n. 32, p. 1, doi. 10.1126/scitranslmed.3000288
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- Publication type:
- Article
Central Precocious Puberty due to Hypothalamic Hamartomas Correlates with Anatomic Features but Not with Expression of GnRH, TGFα, or KISS1.
- Published in:
- 2010
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- Publication type:
- Case Study
Use of genetic models of idiopathic hypogonadotrophic hypogonadism in mice and men to understand the mechanisms of disease.
- Published in:
- Experimental Physiology, 2013, v. 98, n. 11, p. 1522, doi. 10.1113/expphysiol.2013.071910
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- Publication type:
- Article
Interplay between Dose and Frequency of GnRH Administration in Determining Pituitary Gonadotropin Responsiveness.
- Published in:
- Neuroendocrinology, 2008, v. 87, n. 3, p. 142, doi. 10.1159/000112421
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- Publication type:
- Article
Reversible hypogonadotropic hypogonadism in men with the fertile eunuch/Pasqualini syndrome: A single-center natural history study.
- Published in:
- Frontiers in Endocrinology, 2022, v. 13, p. 1, doi. 10.3389/fendo.2022.1054447
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- Publication type:
- Article