Found: 14
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Clinical and Genetic Characterization of Familial Central Precocious Puberty.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2023, v. 108, n. 7, p. 1758, doi. 10.1210/clinem/dgac763
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- Publication type:
- Article
Central Precocious Puberty Caused by a Heterozygous Deletion in the <bold>MKRN3</bold> Promoter Region.
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- Neuroendocrinology, 2018, v. 107, n. 2, p. 127, doi. 10.1159/000490059
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- Article
High Frequency of MKRN3 Mutations in Male Central Precocious Puberty Previously Classified as Idiopathic.
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- Neuroendocrinology, 2017, v. 105, n. 1, p. 17, doi. 10.1159/000446963
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- Article
Paternally Inherited DLK1 Deletion Associated With Familial Central Precocious Puberty.
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- Journal of Clinical Endocrinology & Metabolism, 2017, p. 1557, doi. 10.1210/jc.2016-3677
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- Publication type:
- Article
Paternally Inherited DLK1 Deletion Associated With Familial Central Precocious Puberty.
- Published in:
- 2017
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- Publication type:
- journal article
Central precocious puberty that appears to be sporadic caused by paternally inherited mutations in the imprinted gene makorin ring finger 3.
- Published in:
- 2014
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- Publication type:
- journal article
Growth Hormone (GH) Pharmacogenetics: Influence of GH Receptor Exon 3 Retention or Deletion on First-Year Growth Response and Final Height in Patients with Severe GH Deficiency.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2006, v. 91, n. 3, p. 1076, doi. 10.1210/jc.2005-2005
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- Publication type:
- Article
High-throughput Sequencing to Identify Monogenic Etiologies in a Preselected Polycystic Ovary Syndrome Cohort.
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- Journal of the Endocrine Society, 2022, v. 6, n. 9, p. 1, doi. 10.1210/jendso/bvac106
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- Publication type:
- Article
A homozygous point mutation in the GH1 promoter (c.-223C>T) leads to reduced GH1 expression in siblings with isolated GH deficiency (IGHD).
- Published in:
- European Journal of Endocrinology, 2016, v. 175, n. 2, p. K7, doi. 10.1530/EJE-15-0149
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- Publication type:
- Article
Post-receptor IGF1 insensitivity restricted to the MAPK pathway in a Silver-Russell syndrome patient with hypomethylation at the imprinting control region on chromosome 11.
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- European Journal of Endocrinology, 2012, v. 166, n. 3, p. 543, doi. 10.1530/EJE-11-0964
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- Article
Clinical and Hormonal Features of a Male Adolescent with Congenital Isolated Follicle-Stimulating Hormone Deficiency.
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- Hormone Research in Paediatrics, 2016, v. 85, n. 3, p. 207, doi. 10.1159/000442289
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- Article
DLK1 Is a Novel Link Between Reproduction and Metabolism.
- Published in:
- 2018
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- Publication type:
- journal article
Analysis of the insulin-like growth factor 1 receptor gene in children born small for gestational age: in vitro characterization of a novel mutation (p. Arg511 Trp).
- Published in:
- Clinical Endocrinology, 2013, v. 78, n. 4, p. 558, doi. 10.1111/cen.12048
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- Publication type:
- Article
Analysis of the PTPN11 gene in idiopathic short stature children and Noonan syndrome patients.
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- Clinical Endocrinology, 2008, v. 69, n. 3, p. 426, doi. 10.1111/j.1365-2265.2008.03234.x
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- Article