Found: 7
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Variations in PROKR2, but not PROK2, are associated with hypopituitarism and septo-optic dysplasia.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Novel FGF8 mutations associated with recessive holoprosencephaly, craniofacial defects, and hypothalamo-pituitary dysfunction.
- Published in:
- 2011
- By:
- Publication type:
- journal article
Absence of GH-Releasing Hormone (GHRH) Mutations in Selected Patients with Isolated GH Deficiency.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2011, v. 96, n. 9, p. E1457, doi. 10.1210/jc.2011-0170
- By:
- Publication type:
- Article
Increased Transactivation Associated with SOX3 Polyalanine Tract Deletion in a Patient with Hypopituitarism
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2011, v. 96, n. 4, p. E685, doi. 10.1210/jc.2010-1239
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- Publication type:
- Article
Acanthosis Nigricans and Insulin Sensitivity in Patients with Achondroplasia and Hypochodroplasia due to FGFR3 Mutations.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2009, v. 94, n. 10, p. 3959, doi. 10.1210/jc.2009-0322
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- Publication type:
- Article
Expanding the Spectrum of Mutations in GH1 and GHRHR: Genetic Screening in a Large Cohort of Patients with Congenital Isolated Growth Hormone Deficiency.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2009, v. 94, n. 9, p. 3191, doi. 10.1210/jc.2008-2783
- By:
- Publication type:
- Article
SOX2 haploinsufficiency is associated with slow progressing hypothalamo-pituitary tumours.
- Published in:
- Human Mutation, 2011, v. 32, n. 12, p. 1376, doi. 10.1002/humu.21606
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- Publication type:
- Article