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Page 1
PRKACB and Carney complex.
Forlino A, Vetro A, Garavelli L, Ciccone R, London E, Stratakis CA, Zuffardi O. Forlino A, et al. N Engl J Med. 2014 Mar 13;370(11):1065-7. doi: 10.1056/NEJMc1309730. Epub 2014 Feb 26. N Engl J Med. 2014. PMID: 24571725 No abstract available.
XX males SRY negative: a confirmed cause of infertility.
Vetro A, Ciccone R, Giorda R, Patricelli MG, Della Mina E, Forlino A, Zuffardi O. Vetro A, et al. Among authors: forlino a. J Med Genet. 2011 Oct;48(10):710-2. doi: 10.1136/jmedgenet-2011-100036. Epub 2011 Jun 7. J Med Genet. 2011. PMID: 21653197 Free PMC article.
Deletions of the PRKAR1A locus at 17q24.2-q24.3 in Carney complex: genotype-phenotype correlations and implications for genetic testing.
Salpea P, Horvath A, London E, Faucz FR, Vetro A, Levy I, Gourgari E, Dauber A, Holm IA, Morrison PJ, Keil MF, Lyssikatos C, Smith ED, Sanidad MA, Kelly JC, Dai Z, Mowrey P, Forlino A, Zuffardi O, Stratakis CA. Salpea P, et al. Among authors: forlino a. J Clin Endocrinol Metab. 2014 Jan;99(1):E183-8. doi: 10.1210/jc.2013-3159. Epub 2013 Dec 20. J Clin Endocrinol Metab. 2014. PMID: 24170103 Free PMC article.
Constitutive activation of PKA catalytic subunit in adrenal Cushing's syndrome.
Beuschlein F, Fassnacht M, Assié G, Calebiro D, Stratakis CA, Osswald A, Ronchi CL, Wieland T, Sbiera S, Faucz FR, Schaak K, Schmittfull A, Schwarzmayr T, Barreau O, Vezzosi D, Rizk-Rabin M, Zabel U, Szarek E, Salpea P, Forlino A, Vetro A, Zuffardi O, Kisker C, Diener S, Meitinger T, Lohse MJ, Reincke M, Bertherat J, Strom TM, Allolio B. Beuschlein F, et al. Among authors: forlino a. N Engl J Med. 2014 Mar 13;370(11):1019-28. doi: 10.1056/NEJMoa1310359. Epub 2014 Feb 26. N Engl J Med. 2014. PMID: 24571724 Free PMC article.
TREX1 C-terminal frameshift mutations in the systemic variant of retinal vasculopathy with cerebral leukodystrophy.
DiFrancesco JC, Novara F, Zuffardi O, Forlino A, Gioia R, Cossu F, Bolognesi M, Andreoni S, Saracchi E, Frigeni B, Stellato T, Tolnay M, Winkler DT, Remida P, Isimbaldi G, Ferrarese C. DiFrancesco JC, et al. Among authors: forlino a. Neurol Sci. 2015 Feb;36(2):323-30. doi: 10.1007/s10072-014-1944-9. Epub 2014 Sep 12. Neurol Sci. 2015. PMID: 25213617
Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association.
Vetro A, Iascone M, Limongelli I, Ameziane N, Gana S, Della Mina E, Giussani U, Ciccone R, Forlino A, Pezzoli L, Rooimans MA, van Essen AJ, Messa J, Rizzuti T, Bianchi P, Dorsman J, de Winter JP, Lalatta F, Zuffardi O. Vetro A, et al. Among authors: forlino a. Hum Mutat. 2015 May;36(5):562-8. doi: 10.1002/humu.22784. Epub 2015 Apr 7. Hum Mutat. 2015. PMID: 25754594
MCM5: a new actor in the link between DNA replication and Meier-Gorlin syndrome.
Vetro A, Savasta S, Russo Raucci A, Cerqua C, Sartori G, Limongelli I, Forlino A, Maruelli S, Perucca P, Vergani D, Mazzini G, Mattevi A, Stivala LA, Salviati L, Zuffardi O. Vetro A, et al. Among authors: forlino a. Eur J Hum Genet. 2017 May;25(5):646-650. doi: 10.1038/ejhg.2017.5. Epub 2017 Feb 15. Eur J Hum Genet. 2017. PMID: 28198391 Free PMC article.
Osteogenesis imperfecta.
Forlino A, Marini JC. Forlino A, et al. Lancet. 2016 Apr 16;387(10028):1657-71. doi: 10.1016/S0140-6736(15)00728-X. Epub 2015 Nov 3. Lancet. 2016. PMID: 26542481 Free PMC article. Review.
A Mn(II)-Mn(II) center in human prolidase.
Besio R, Baratto MC, Gioia R, Monzani E, Nicolis S, Cucca L, Profumo A, Casella L, Basosi R, Tenni R, Rossi A, Forlino A. Besio R, et al. Among authors: forlino a. Biochim Biophys Acta. 2013 Jan;1834(1):197-204. doi: 10.1016/j.bbapap.2012.09.008. Epub 2012 Sep 19. Biochim Biophys Acta. 2013. PMID: 22999980
129 results