Found: 27
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Absence of activating mutations in the GnRH receptor gene in human pituitary gonadotroph adenomas.
- Published in:
- European Journal of Endocrinology, 1998, v. 139, n. 2, p. 157, doi. 10.1530/eje.0.1390157
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- Publication type:
- Article
Estrogen Receptor α Inactivation in 2 Sisters: Different Phenotypic Severities for the Same Pathogenic Variant.
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- Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 6, p. e2553, doi. 10.1210/clinem/dgac065
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- Publication type:
- Article
A Novel Loss-of-Function Mutation in GPR54/KISS1R Leads to Hypogonadotropic Hypogonadism in a Highly Consanguineous Family.
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- Journal of Clinical Endocrinology & Metabolism, 2011, v. 96, n. 3, p. E536, doi. 10.1210/jc.2010-1676
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- Article
Rabconnectin-3α is required for the morphological maturation of GnRH neurons and kisspeptin responsiveness.
- Published in:
- Scientific Reports, 2017, p. 42463, doi. 10.1038/srep42463
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- Publication type:
- Article
DLK1 Is a Somato-Dendritic Protein Expressed in Hypothalamic Arginine-Vasopressin and Oxytocin Neurons.
- Published in:
- PLoS ONE, 2012, v. 7, n. 4, p. 1, doi. 10.1371/journal.pone.0036134
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- Publication type:
- Article
Pituitary-Thyroid Feedback in a Patient with a Sporadic Activating Thyrotropin (TSH) Receptor Mutation: Implication That Thyroid-Secreted Factors Other Than Thyroid Hormones Contribute to Serum TSH Levels.
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- Journal of Clinical Endocrinology & Metabolism, 2009, v. 94, n. 8, p. 2787, doi. 10.1210/jc.2008-2524
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- Publication type:
- Article
Neuroendocrine Phenotype Analysis in Five Patients with Isolated Hypogonadotropic Hypogonadism due to a L102P Inactivating Mutation of GPR54.
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- Journal of Clinical Endocrinology & Metabolism, 2007, v. 92, n. 3, p. 1137, doi. 10.1210/jc.2006-2147
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- Publication type:
- Article
Mutation Ala<sup>171</sup>Thr Stabilizes the GonadotropinReleasing Hormone Receptor in Its Inactive Conformation, Causing Familial Hypogonadotropic Hypogonadism.
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- Journal of Clinical Endocrinology & Metabolism, 2003, v. 88, n. 4, p. 1873, doi. 10.1210/jc.2002-020005
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- Publication type:
- Article
The Same Molecular Defects of the GonadotropinReleasing Hormone Receptor Determine a Variable Degree of Hypogonadism in Affected Kindred.
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- Journal of Clinical Endocrinology & Metabolism, 1999, v. 84, n. 2, p. 567, doi. 10.1210/jcem.84.2.5449
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- Article
Analysis of the Thyrotropin Receptor as a Candidate Gene in Familial Graves’ Disease.
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- Journal of Clinical Endocrinology & Metabolism, 1996, v. 81, n. 10, p. 3483, doi. 10.1210/jc.81.10.3483
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- Publication type:
- Article
3β-Hydroxysteroid Dehydrogenase Type 2 (3βHSD2) Deficiency due to a Novel Compound Heterozygosity of a Missense Mutation (p.Thr259Met) and Frameshift Deletion (p.Lys273ArgFs*7) in an Undervirilized Infant Male with Salt Wasting.
- Published in:
- Sexual Development, 2022, v. 16, n. 1, p. 64, doi. 10.1159/000519062
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- Publication type:
- Article
Linkage and mutational analysis of familial thyroid dysgenesis demonstrate genetic heterogeneity implicating novel genes.
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- European Journal of Human Genetics, 2005, v. 13, n. 2, p. 232, doi. 10.1038/sj.ejhg.5201321
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- Publication type:
- Article
Functional characterization of the novel sequence variant p.S304R in the hinge region of TSHR in a congenital hypothyroidism patients and analogy with other formerly known mutations of this gene portion.
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- Journal of Pediatric Endocrinology & Metabolism, 2015, v. 28, n. 7/8, p. 777, doi. 10.1515/jpem-2014-0194
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- Publication type:
- Article
Prevalence and course of thyroid dysfunction in neonates at high risk of Graves' disease or with non-autoimmune hyperthyroidism.
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- European Journal of Endocrinology, 2021, v. 184, n. 3, p. 431, doi. 10.1530/EJE-20-1320
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- Publication type:
- Article
Prevalence and clinical characteristics of isolated forms of central precocious puberty: a cohort study at a single academic center.
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- European Journal of Endocrinology, 2021, v. 184, n. 2, p. 243, doi. 10.1530/EJE-20-0862
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- Publication type:
- Article
High prevalence of syndromic disorders in patients with non-isolated central precocious puberty.
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- European Journal of Endocrinology, 2018, v. 179, n. 6, p. 373, doi. 10.1530/EJE-18-0613
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- Article
Mutations in the maternally imprinted gene MKRN3 are common in familial central precocious puberty.
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- European Journal of Endocrinology, 2016, v. 174, n. 1, p. 1, doi. 10.1530/EJE-15-0488
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- Article
PROKR2 and PROK2 mutations cause isolated congenital anosmia without gonadotropic deficiency.
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- European Journal of Endocrinology, 2013, v. 167, n. 1, p. 31, doi. 10.1530/EJE-12-0578
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- Publication type:
- Article
Clinical and molecular genetics of the human GnRH receptor.
- Published in:
- Human Reproduction Update, 2003, v. 9, n. 6, p. 523, doi. 10.1093/humupd/dmg040
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- Article
Deposit Insurance and Depositor Behavior: Evidence from Colombia.
- Published in:
- Review of Financial Studies, 2023, v. 36, n. 7, p. 2721, doi. 10.1093/rfs/hhac092
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- Publication type:
- Article
Dental agenesis in Kallmann syndrome individuals with FGFR1 mutations.
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- International Journal of Paediatric Dentistry, 2010, v. 20, n. 4, p. 305, doi. 10.1111/j.1365-263X.2010.01056.x
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- Publication type:
- Article
Genotype-Phenotype Relationship in Patients and Relatives with SHOX Region Anomalies in the French Population.
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- Hormone Research in Paediatrics, 2016, v. 86, n. 5, p. 309, doi. 10.1159/000448282
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- Publication type:
- Article
Absence of GPR54 and TACR3 Mutations in Sporadic Cases of Idiopathic Central Precocious Puberty.
- Published in:
- Hormone Research in Paediatrics, 2014, v. 81, n. 3, p. 177, doi. 10.1159/000356913
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- Article
Sacrifice Ratios and Inflation Targeting: The Role of Credibility.
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- International Finance, 2014, v. 17, n. 3, p. 381, doi. 10.1111/infi.12054
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- Publication type:
- Article
Haploinsufficiency of Dmxl2, Encoding a Synaptic Protein, Causes Infertility Associated with a Loss of GnRH Neurons in Mouse.
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- PLoS Biology, 2014, v. 12, n. 9, p. 1, doi. 10.1371/journal.pbio.1001952
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- Publication type:
- Article
Complete Kisspeptin Receptor Inactivation Does Not Impede Exogenous GnRH-Induced LH Surge in Humans.
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- 2018
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- Publication type:
- journal article
Genetics of Isolated Hypogonadotropic Hypogonadism:Role of GnRH Receptor and Other Genes.
- Published in:
- International Journal of Endocrinology, 2012, p. 1, doi. 10.1155/2012/147893
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- Publication type:
- Article