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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: poggiani c. 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: poggiani c. 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.
Prenatal diagnosis of X chromosome monosomy.
Cavalli P, Riboli B, Torresani P, Poggiani C. Cavalli P, et al. Among authors: poggiani c. Prenat Diagn. 2006 Oct;26(10):992-3. doi: 10.1002/pd.1563. Prenat Diagn. 2006. PMID: 17029300 No abstract available.
Prenatal exclusion of cleidocranial dysplasia.
Cavalli P, Santorelli FM, Bontardelli M, Tessa A, Bosi A, Poggiani C. Cavalli P, et al. Among authors: poggiani c. Prenat Diagn. 2003 Nov;23(11):945-6. doi: 10.1002/pd.718. Prenat Diagn. 2003. PMID: 14634985 No abstract available.
Pictorial essay of Werdnig-Hoffman disease.
Poggiani C, Ferrari D, Parati S, Torresani P. Poggiani C, et al. Minerva Pediatr. 2009 Apr;61(2):237-8. Minerva Pediatr. 2009. PMID: 19322128 No abstract available.
41 results