Graziano C - Search Results

1

A de novo PUF60 mutation in a child with a syndromic form of coloboma and persistent fetal vasculature.

Graziano C, Gusson E, Severi G, Isidori F, Wischmeijer A, Brugnara M, Seri M, Rossi C. Graziano C, et al. Ophthalmic Genet. 2017 Dec;38(6):590-592. doi: 10.1080/13816810.2017.1318927. Epub 2017 May 4. Ophthalmic Genet. 2017. PMID: 28471317 No abstract available.

2

The Enigmatic Genetic Landscape of Hereditary Hearing Loss: A Multistep Diagnostic Strategy in the Italian Population.

Spedicati B, Santin A, Nardone GG, Rubinato E, Lenarduzzi S, Graziano C, Garavelli L, Miccoli S, Bigoni S, Morgan A, Girotto G. Spedicati B, et al. Among authors: graziano c. Biomedicines. 2023 Feb 24;11(3):703. doi: 10.3390/biomedicines11030703. Biomedicines. 2023. PMID: 36979683 Free PMC article.

3

Psychological consequences of prenatal diagnosis in a case of familial Angelman syndrome.

Turchetti D, Razzaboni E, Zomer H, Rossi C, Ferrari S, Greco D, Graziano C, Romeo G, Seri M. Turchetti D, et al. Among authors: graziano c. Prenat Diagn. 2006 Dec;26(12):1156-9. doi: 10.1002/pd.1577. Prenat Diagn. 2006. PMID: 17009341

4

A de novo nonsense mutation of PAX6 gene in a patient with aniridia, ataxia, and mental retardation.

Graziano C, D'Elia AV, Mazzanti L, Moscano F, Guidelli Guidi S, Scarano E, Turchetti D, Franzoni E, Romeo G, Damante G, Seri M. Graziano C, et al. Am J Med Genet A. 2007 Aug 1;143A(15):1802-5. doi: 10.1002/ajmg.a.31808. Am J Med Genet A. 2007. PMID: 17595013 No abstract available.

5

Association of hereditary thrombocythemia and distal limb defects with a thrombopoietin gene mutation.

Graziano C, Carone S, Panza E, Marino F, Magini P, Romeo G, Pession A, Seri M. Graziano C, et al. Blood. 2009 Aug 20;114(8):1655-7. doi: 10.1182/blood-2009-04-217851. Epub 2009 Jun 24. Blood. 2009. PMID: 19553636 Free article.

6

Garone C, Pippucci T, Cordelli DM, Zuntini R, Castegnaro G, Marconi C, Graziano C, Marchiani V, Verrotti A, Seri M, Franzoni E. Garone C, et al. Among authors: graziano c. Dev Med Child Neurol. 2011 Oct;53(10):958-61. doi: 10.1111/j.1469-8749.2011.03993.x. Epub 2011 May 18. Dev Med Child Neurol. 2011. PMID: 21592092 Free article.

7

Genetics of human enteric neuropathies.

Panza E, Knowles CH, Graziano C, Thapar N, Burns AJ, Seri M, Stanghellini V, De Giorgio R. Panza E, et al. Among authors: graziano c. Prog Neurobiol. 2012 Feb;96(2):176-89. doi: 10.1016/j.pneurobio.2012.01.001. Epub 2012 Jan 14. Prog Neurobiol. 2012. PMID: 22266104 Review.

8

Functional analysis of missense mutations of OAT, causing gyrate atrophy of choroid and retina.

Doimo M, Desbats MA, Baldoin MC, Lenzini E, Basso G, Murphy E, Graziano C, Seri M, Burlina A, Sartori G, Trevisson E, Salviati L. Doimo M, et al. Among authors: graziano c. Hum Mutat. 2013 Jan;34(1):229-36. doi: 10.1002/humu.22233. Epub 2012 Oct 17. Hum Mutat. 2013. PMID: 23076989

9

An additional family with association of hereditary thrombocytosis and transverse limb deficiency: confirmation of a rare clinical spectrum.

Graziano C, David M, Magini P, Superti-Furga A, Seri M. Graziano C, et al. Am J Med Genet A. 2012 Dec;158A(12):3211-3. doi: 10.1002/ajmg.a.35656. Epub 2012 Nov 19. Am J Med Genet A. 2012. PMID: 23165915 No abstract available.

10

9q31.1q31.3 deletion in two patients with similar clinical features: a newly recognized microdeletion syndrome?

Mucciolo M, Magini P, Marozza A, Mongelli P, Mencarelli MA, Hayek G, Tavalazzi F, Mari F, Seri M, Renieri A, Graziano C. Mucciolo M, et al. Among authors: graziano c. Am J Med Genet A. 2014 Mar;164A(3):685-90. doi: 10.1002/ajmg.a.36361. Epub 2013 Dec 20. Am J Med Genet A. 2014. PMID: 24376033

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