Cao A - Search Results

1

The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome.

Crisponi L, Deiana M, Loi A, Chiappe F, Uda M, Amati P, Bisceglia L, Zelante L, Nagaraja R, Porcu S, Ristaldi MS, Marzella R, Rocchi M, Nicolino M, Lienhardt-Roussie A, Nivelon A, Verloes A, Schlessinger D, Gasparini P, Bonneau D, Cao A, Pilia G. Crisponi L, et al. Among authors: cao a. Nat Genet. 2001 Feb;27(2):159-66. doi: 10.1038/84781. Nat Genet. 2001. PMID: 11175783

2

FOXL2 inactivation by a translocation 171 kb away: analysis of 500 kb of chromosome 3 for candidate long-range regulatory sequences.

Crisponi L, Uda M, Deiana M, Loi A, Nagaraja R, Chiappe F, Schlessinger D, Cao A, Pilia G. Crisponi L, et al. Among authors: cao a. Genomics. 2004 May;83(5):757-64. doi: 10.1016/j.ygeno.2003.11.010. Genomics. 2004. PMID: 15081106

3

A YAC contig spanning the blepharophimosis-ptosis-epicanthus inversus syndrome and propionic acidemia loci.

Piemontese MR, Memeo E, Carella M, Amati P, Chomel JC, Bonneau D, Pilia G, Cao A, Drabkin H, Gemmill R, Rommens J, Zelante L, Gasparini P, Bisceglia L. Piemontese MR, et al. Among authors: cao a. Eur J Hum Genet. 1997 May-Jun;5(3):171-4. Eur J Hum Genet. 1997. PMID: 9272742

4

The forkhead transcription factor Foxl2 is sumoylated in both human and mouse: sumoylation affects its stability, localization, and activity.

Marongiu M, Deiana M, Meloni A, Marcia L, Puddu A, Cao A, Schlessinger D, Crisponi L. Marongiu M, et al. Among authors: cao a. PLoS One. 2010 Mar 2;5(3):e9477. doi: 10.1371/journal.pone.0009477. PLoS One. 2010. PMID: 20209145 Free PMC article.

5

Foxl2 disruption causes mouse ovarian failure by pervasive blockage of follicle development.

Uda M, Ottolenghi C, Crisponi L, Garcia JE, Deiana M, Kimber W, Forabosco A, Cao A, Schlessinger D, Pilia G. Uda M, et al. Among authors: cao a. Hum Mol Genet. 2004 Jun 1;13(11):1171-81. doi: 10.1093/hmg/ddh124. Epub 2004 Mar 31. Hum Mol Genet. 2004. PMID: 15056605

6

Prenatal diagnosis of beta thalassaemia based on restriction endonuclease analysis of amplified fetal DNA.

Pirastu M, Ristaldi MS, Cao A. Pirastu M, et al. Among authors: cao a. J Med Genet. 1989 Jun;26(6):363-7. doi: 10.1136/jmg.26.6.363. J Med Genet. 1989. PMID: 2738898 Free PMC article.

7

Jagged-1 mutation analysis in Italian Alagille syndrome patients.

Pilia G, Uda M, Macis D, Frau F, Crisponi L, Balli F, Barbera C, Colombo C, Frediani T, Gatti R, Iorio R, Marazzi MG, Marcellini M, Musumeci S, Nebbia G, Vajro P, Ruffa G, Zancan L, Cao A, DeVirgilis S. Pilia G, et al. Among authors: cao a. Hum Mutat. 1999;14(5):394-400. doi: 10.1002/(SICI)1098-1004(199911)14:5<394::AID-HUMU5>3.0.CO;2-1. Hum Mutat. 1999. PMID: 10533065

8

Activation of the delta-globin gene by the beta-globin gene CACCC motif.

Ristaldi MS, Casula S, Porcu S, Marongiu MF, Pirastu M, Cao A. Ristaldi MS, et al. Among authors: cao a. Blood Cells Mol Dis. 1999 Jun-Aug;25(3-4):193-209. doi: 10.1006/bcmd.1999.0245. Blood Cells Mol Dis. 1999. PMID: 10575545

9

Wilson disease mutations associated with uncommon haplotypes in Mediterranean patients.

Loudianos G, Dessì V, Angius A, Lovicu M, Loi A, Deiana M, Akar N, Vajro P, Figus A, Cao A, Pirastu M. Loudianos G, et al. Among authors: cao a. Hum Genet. 1996 Dec;98(6):640-2. doi: 10.1007/s004390050275. Hum Genet. 1996. PMID: 8931691

10

A novel delta-thalassemia mutation A G-->C substitution at codon 30 of the delta-globin gene in a person of southern Italian origin.

Loudianos G, Murru S, Ristaldi MS, Cossu P, Pilia G, Porcu S, Sciarratta GV, Parodi MI, Cao A, Pirastu M. Loudianos G, et al. Among authors: cao a. Hum Mutat. 1992;1(2):169-71. doi: 10.1002/humu.1380010215. Hum Mutat. 1992. PMID: 1301204 No abstract available.

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