Damante G - Search Results

1

Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome.

Ansari M, Rainger J, Hanson IM, Williamson KA, Sharkey F, Harewood L, Sandilands A, Clayton-Smith J, Dollfus H, Bitoun P, Meire F, Fantes J, Franco B, Lorenz B, Taylor DS, Stewart F, Willoughby CE, McEntagart M, Khaw PT, Clericuzio C, Van Maldergem L, Williams D, Newbury-Ecob R, Traboulsi EI, Silva ED, Madlom MM, Goudie DR, Fleck BW, Wieczorek D, Kohlhase J, McTrusty AD, Gardiner C, Yale C, Moore AT, Russell-Eggitt I, Islam L, Lees M, Beales PL, Tuft SJ, Solano JB, Splitt M, Hertz JM, Prescott TE, Shears DJ, Nischal KK, Doco-Fenzy M, Prieur F, Temple IK, Lachlan KL, Damante G, Morrison DA, van Heyningen V, FitzPatrick DR. Ansari M, et al. Among authors: damante g. PLoS One. 2016 Apr 28;11(4):e0153757. doi: 10.1371/journal.pone.0153757. eCollection 2016. PLoS One. 2016. PMID: 27124303 Free PMC article.

2

Disruption of autoregulatory feedback by a mutation in a remote, ultraconserved PAX6 enhancer causes aniridia.

Bhatia S, Bengani H, Fish M, Brown A, Divizia MT, de Marco R, Damante G, Grainger R, van Heyningen V, Kleinjan DA. Bhatia S, et al. Among authors: damante g. Am J Hum Genet. 2013 Dec 5;93(6):1126-34. doi: 10.1016/j.ajhg.2013.10.028. Epub 2013 Nov 27. Am J Hum Genet. 2013. PMID: 24290376 Free PMC article. Review.

3

Molecular analysis of a human PAX6 homeobox mutant.

D'Elia AV, Puppin C, Pellizzari L, Pianta A, Bregant E, Lonigro R, Tell G, Fogolari F, van Heyningen V, Damante G. D'Elia AV, et al. Among authors: damante g. Eur J Hum Genet. 2006 Jun;14(6):744-51. doi: 10.1038/sj.ejhg.5201579. Eur J Hum Genet. 2006. PMID: 16493447

4

Subfunctionalization of duplicated zebrafish pax6 genes by cis-regulatory divergence.

Kleinjan DA, Bancewicz RM, Gautier P, Dahm R, Schonthaler HB, Damante G, Seawright A, Hever AM, Yeyati PL, van Heyningen V, Coutinho P. Kleinjan DA, et al. Among authors: damante g. PLoS Genet. 2008 Feb;4(2):e29. doi: 10.1371/journal.pgen.0040029. PLoS Genet. 2008. PMID: 18282108 Free PMC article.

5

Screening of PAX6 gene in Italian congenital aniridia patients revealed four novel mutations.

Primignani P, Allegrini D, Manfredini E, Romitti L, Mauri L, Patrosso MC, Veniani E, Franzoni A, Del Longo A, Gesu GP, Piozzi E, Damante G, Penco S. Primignani P, et al. Among authors: damante g. Ophthalmic Genet. 2016 Sep;37(3):307-13. doi: 10.3109/13816810.2015.1059459. Epub 2016 Feb 5. Ophthalmic Genet. 2016. PMID: 26849621

6

A deletion 3' to the PAX6 gene in familial aniridia cases.

D'Elia AV, Pellizzari L, Fabbro D, Pianta A, Divizia MT, Rinaldi R, Grammatico B, Grammatico P, Arduino C, Damante G. D'Elia AV, et al. Among authors: damante g. Mol Vis. 2007 Jul 23;13:1245-50. Mol Vis. 2007. PMID: 17679951

7

SOX2, OTX2 and PAX6 analysis in subjects with anophthalmia and microphthalmia.

Mauri L, Franzoni A, Scarcello M, Sala S, Garavelli L, Modugno A, Grammatico P, Patrosso MC, Piozzi E, Del Longo A, Gesu GP, Manfredini E, Primignani P, Damante G, Penco S. Mauri L, et al. Among authors: damante g. Eur J Med Genet. 2015 Feb;58(2):66-70. doi: 10.1016/j.ejmg.2014.12.005. Epub 2014 Dec 23. Eur J Med Genet. 2015. PMID: 25542770

8

A CGH array procedure to detect PAX6 gene structural defects.

Franzoni A, Russo PD, Baldan F, D'Elia AV, Puppin C, Penco S, Damante G. Franzoni A, et al. Among authors: damante g. Mol Cell Probes. 2017 Apr;32:65-68. doi: 10.1016/j.mcp.2016.12.001. Epub 2016 Dec 2. Mol Cell Probes. 2017. PMID: 27919838

9

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. Among authors: damante g. 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.

10

A novel de novo HDAC8 missense mutation causing Cornelia de Lange syndrome.

Mio C, Passon N, Fogolari F, Cesario C, Novelli A, Pittini C, Damante G. Mio C, et al. Among authors: damante g. Mol Genet Genomic Med. 2021 Sep;9(9):e1612. doi: 10.1002/mgg3.1612. Epub 2021 Aug 3. Mol Genet Genomic Med. 2021. PMID: 34342180 Free PMC article.

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