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Variants in the 5'UTR reduce SHOX expression and contribute to SHOX haploinsufficiency.
Babu D, Vannelli S, Fanelli A, Mellone S, Baffico AM, Corrado L, Essa WA, Grandone A, Bellone S, Monzani A, Vinci G, De Sanctis L, Stuppia L, Prodam F, Giordano M. Babu D, et al. Among authors: giordano m. Eur J Hum Genet. 2021 Jan;29(1):110-121. doi: 10.1038/s41431-020-0676-y. Epub 2020 Jul 9. Eur J Hum Genet. 2021. PMID: 32647378 Free PMC article.
[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
The case of the solitary sick kidney.
Stratta P, Canavese C, Monzani A, Corrado L, Giordano M. Stratta P, et al. Among authors: giordano m. Kidney Int. 2010 Feb;77(3):257-8; author reply 258. doi: 10.1038/ki.2009.450. Kidney Int. 2010. PMID: 20075957 Free article. No abstract available.
1,636 results