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Frequency of genetic defects in combined pituitary hormone deficiency: a systematic review and analysis of a multicentre Italian cohort.
De Rienzo F, Mellone S, Bellone S, Babu D, Fusco I, Prodam F, Petri A, Muniswamy R, De Luca F, Salerno M, Momigliano-Richardi P, Bona G, Giordano M; Italian Study Group on Genetics of CPHD. De Rienzo F, et al. Among authors: giordano m. Clin Endocrinol (Oxf). 2015 Dec;83(6):849-60. doi: 10.1111/cen.12849. Epub 2015 Aug 6. Clin Endocrinol (Oxf). 2015. PMID: 26147833 Review.
Genetic defects in GH synthesis and secretion.
Bona G, Paracchini R, Giordano M, Momigliano-Richiardi P. Bona G, et al. Among authors: giordano m. Eur J Endocrinol. 2004 Aug;151 Suppl 1:S3-9. doi: 10.1530/eje.0.151s003. Eur J Endocrinol. 2004. PMID: 15339237 Review.
[Genetics of low stature].
Bona G, Corneli G, Vivenza D, Bellone S, Prodam F, Godi M, Giordano M, Momigliano P. Bona G, et al. Among authors: giordano m. Minerva Pediatr. 2007 Oct;59(5):543-4. Minerva Pediatr. 2007. PMID: 17947911 Italian. No abstract available.
A functional common polymorphism in the vitamin D-responsive element of the GH1 promoter contributes to isolated growth hormone deficiency.
Giordano M, Godi M, Mellone S, Petri A, Vivenza D, Tiradani L, Carlomagno Y, Ferrante D, Arrigo T, Corneli G, Bellone S, Giacopelli F, Santoro C, Bona G, Momigliano-Richiardi P. Giordano M, et al. J Clin Endocrinol Metab. 2008 Mar;93(3):1005-12. doi: 10.1210/jc.2007-1918. Epub 2007 Dec 26. J Clin Endocrinol Metab. 2008. PMID: 18160466
A recurrent signal peptide mutation in the growth hormone releasing hormone receptor with defective translocation to the cell surface and isolated growth hormone deficiency.
Godi M, Mellone S, Petri A, Arrigo T, Bardelli C, Corrado L, Bellone S, Prodam F, Momigliano-Richiardi P, Bona G, Giordano M. Godi M, et al. Among authors: giordano m. J Clin Endocrinol Metab. 2009 Oct;94(10):3939-47. doi: 10.1210/jc.2009-0833. Epub 2009 Jul 21. J Clin Endocrinol Metab. 2009. PMID: 19622623
1,584 results