Ristaldi MS - 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: ristaldi ms. Nat Genet. 2001 Feb;27(2):159-66. doi: 10.1038/84781. Nat Genet. 2001. PMID: 11175783

2

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: ristaldi ms. Hum Mutat. 1992;1(2):169-71. doi: 10.1002/humu.1380010215. Hum Mutat. 1992. PMID: 1301204 No abstract available.

3

Molecular analysis of atypical beta-thalassemia heterozygotes.

Pirastu M, Ristaldi MS, Loudianos G, Murru S, Sciarratta GV, Parodi MI, Leone D, Agosti S, Cao A. Pirastu M, et al. Among authors: ristaldi ms. Ann N Y Acad Sci. 1990;612:90-7. doi: 10.1111/j.1749-6632.1990.tb24294.x. Ann N Y Acad Sci. 1990. PMID: 2291578

4

The C-T substitution in the distal CACCC box of the beta-globin gene promoter is a common cause of silent beta thalassaemia in the Italian population.

Ristaldi MS, Murru S, Loudianos G, Casula L, Porcu S, Pigheddu D, Fanni B, Sciarratta GV, Agosti S, Parodi MI, et al. Ristaldi MS, et al. Br J Haematol. 1990 Apr;74(4):480-6. doi: 10.1111/j.1365-2141.1990.tb06338.x. Br J Haematol. 1990. PMID: 2346726

5

The prevention of thalassemia in Sardinia.

Cao A, Rosatelli C, Galanello R, Monni G, Olla G, Cossu P, Ristaldi MS. Cao A, et al. Among authors: ristaldi ms. Clin Genet. 1989 Nov;36(5):277-85. Clin Genet. 1989. PMID: 2598483

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: ristaldi ms. 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

Prenatal diagnosis of beta-thalassaemia in Mediterranean populations by dot blot analysis with DNA amplification and allele specific oligonucleotide probes.

Ristaldi MS, Pirastu M, Rosatelli C, Monni G, Erlich H, Saiki R, Cao A. Ristaldi MS, et al. Prenat Diagn. 1989 Sep;9(9):629-38. doi: 10.1002/pd.1970090906. Prenat Diagn. 1989. PMID: 2798349

8

In vitro expression of the --87 beta-globin thalassemic mutations.

Ristaldi MS, Cao A, Casula S. Ristaldi MS, et al. Blood. 1995 Sep 1;86(5):2055-6. Blood. 1995. PMID: 7655037 No abstract available.

9

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. 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

10

Normal delta globin gene sequence in carrier of the silent-101 (C-T) beta-thalassemia mutation with normal HbA2 level.

Ristaldi MS, Casula S, Porcu S, Cao A. Ristaldi MS, et al. Am J Hematol. 2001 May;67(1):58. doi: 10.1002/ajh.1079. Am J Hematol. 2001. PMID: 11279661 Free article. No abstract available.

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