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Page 1
Expanding the Molecular Spectrum of ANKRD11 Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome.
Bestetti I, Crippa M, Sironi A, Tumiatti F, Masciadri M, Smeland MF, Naik S, Murch O, Bonati MT, Spano A, Cattaneo E, Mariani M, Gotta F, Crosti F, Cavalli P, Pantaleoni C, Natacci F, Bedeschi MF, Milani D, Maitz S, Selicorni A, Spaccini L, Peron A, Russo S, Larizza L, Low K, Finelli P. Bestetti I, et al. Among authors: cavalli p. Int J Mol Sci. 2022 May 25;23(11):5912. doi: 10.3390/ijms23115912. Int J Mol Sci. 2022. PMID: 35682590 Free PMC article.
Design and validation of a pericentromeric BAC clone set aimed at improving diagnosis and phenotype prediction of supernumerary marker chromosomes.
Castronovo C, Valtorta E, Crippa M, Tedoldi S, Romitti L, Amione MC, Guerneri S, Rusconi D, Ballarati L, Milani D, Grosso E, Cavalli P, Giardino D, Bonati MT, Larizza L, Finelli P. Castronovo C, et al. Among authors: cavalli p. Mol Cytogenet. 2013 Oct 30;6(1):45. doi: 10.1186/1755-8166-6-45. Mol Cytogenet. 2013. PMID: 24171812 Free PMC article.
Inositols: From Established Knowledge to Novel Approaches.
Dinicola S, Unfer V, Facchinetti F, Soulage CO, Greene ND, Bizzarri M, Laganà AS, Chan SY, Bevilacqua A, Pkhaladze L, Benvenga S, Stringaro A, Barbaro D, Appetecchia M, Aragona C, Bezerra Espinola MS, Cantelmi T, Cavalli P, Chiu TT, Copp AJ, D'Anna R, Dewailly D, Di Lorenzo C, Diamanti-Kandarakis E, Hernández Marín I, Hod M, Kamenov Z, Kandaraki E, Monastra G, Montanino Oliva M, Nestler JE, Nordio M, Ozay AC, Papalou O, Porcaro G, Prapas N, Roseff S, Vazquez-Levin M, Vucenik I, Wdowiak A. Dinicola S, et al. Among authors: cavalli p. Int J Mol Sci. 2021 Sep 30;22(19):10575. doi: 10.3390/ijms221910575. Int J Mol Sci. 2021. PMID: 34638926 Free PMC article. Review.
Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.
Lionel AC, Tammimies K, Vaags AK, Rosenfeld JA, Ahn JW, Merico D, Noor A, Runke CK, Pillalamarri VK, Carter MT, Gazzellone MJ, Thiruvahindrapuram B, Fagerberg C, Laulund LW, Pellecchia G, Lamoureux S, Deshpande C, Clayton-Smith J, White AC, Leather S, Trounce J, Melanie Bedford H, Hatchwell E, Eis PS, Yuen RK, Walker S, Uddin M, Geraghty MT, Nikkel SM, Tomiak EM, Fernandez BA, Soreni N, Crosbie J, Arnold PD, Schachar RJ, Roberts W, Paterson AD, So J, Szatmari P, Chrysler C, Woodbury-Smith M, Brian Lowry R, Zwaigenbaum L, Mandyam D, Wei J, Macdonald JR, Howe JL, Nalpathamkalam T, Wang Z, Tolson D, Cobb DS, Wilks TM, Sorensen MJ, Bader PI, An Y, Wu BL, Musumeci SA, Romano C, Postorivo D, Nardone AM, Monica MD, Scarano G, Zoccante L, Novara F, Zuffardi O, Ciccone R, Antona V, Carella M, Zelante L, Cavalli P, Poggiani C, Cavallari U, Argiropoulos B, Chernos J, Brasch-Andersen C, Speevak M, Fichera M, Ogilvie CM, Shen Y, Hodge JC, Talkowski ME, Stavropoulos DJ, Marshall CR, Scherer SW. Lionel AC, et al. Among authors: cavalli p. Hum Mol Genet. 2014 May 15;23(10):2752-68. doi: 10.1093/hmg/ddt669. Epub 2013 Dec 30. Hum Mol Genet. 2014. PMID: 24381304 Free PMC article.
A case of neonatal Jeune syndrome expanding the phenotype.
Drera B, Ferrari D, Cavalli P, Poggiani C. Drera B, et al. Among authors: cavalli p. Clin Case Rep. 2014 Aug;2(4):156-8. doi: 10.1002/ccr3.85. Epub 2014 Jun 2. Clin Case Rep. 2014. PMID: 25356276 Free PMC article.
Breakthroughs in the Use of Inositols for Assisted Reproductive Treatment (ART).
Facchinetti F, Espinola MSB, Dewailly D, Ozay AC, Prapas N, Vazquez-Levin M, Wdowiak A, Unfer V; Expert Group on Inositols in Preclinical and Clinical Research. Facchinetti F, et al. Trends Endocrinol Metab. 2020 Aug;31(8):570-579. doi: 10.1016/j.tem.2020.04.003. Epub 2020 May 15. Trends Endocrinol Metab. 2020. PMID: 32418772 Review.
An update on the use of inositols in preventing gestational diabetes mellitus (GDM) and neural tube defects (NTDs).
Facchinetti F, Cavalli P, Copp AJ, D'Anna R, Kandaraki E, Greene NDE, Unfer V; Experts Group on Inositol in Basic and Clinical Research. Facchinetti F, et al. Among authors: cavalli p. Expert Opin Drug Metab Toxicol. 2020 Dec;16(12):1187-1198. doi: 10.1080/17425255.2020.1828344. Epub 2020 Nov 10. Expert Opin Drug Metab Toxicol. 2020. PMID: 32966143 Free PMC article. Review.
Results from the International Consensus Conference on myo-inositol and D-chiro-inositol in Obstetrics and Gynecology--assisted reproduction technology.
Bevilacqua A, Carlomagno G, Gerli S, Montanino Oliva M, Devroey P, Lanzone A, Soulange C, Facchinetti F, Carlo Di Renzo G, Bizzarri M, Hod M, Cavalli P, D'Anna R, Benvenga S, Chiu TT, Kamenov ZA. Bevilacqua A, et al. Among authors: cavalli p. Gynecol Endocrinol. 2015 Jun;31(6):441-6. doi: 10.3109/09513590.2015.1006616. Epub 2015 Jun 2. Gynecol Endocrinol. 2015. PMID: 26036719 Review.
153 results