Lista de obras - Ristaldi MS - Dominio Público Uruguay

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

scientific article published on 01 January 1992

A spontaneous mutation produced a novel elongated beta-globin chain structural variant (Hb Agnana) with a thalassemia-like phenotype

scientific article published on 01 March 1990

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

artículo científico publicado en 1999

Beta-thalassemia mutations in Corsica

scientific article published on 01 August 2000

Cri du chat mosaicism: an unusual case of partial deletion and partial deletion/ duplication of the short arm of chromosome 5, leading to an unusual cri du chat phenotype.

artículo científico publicado en 2008

Different switching patterns of β-thalassaemic mutations at the proximal and distal CACCC box of the human HBB (β-globin) gene

artículo científico publicado en 2015

Differentiation of human adult CD34+ stem cells into cells with a neural phenotype: role of astrocytes.

artículo científico publicado en 2005

Differentiation of single cell derived human mesenchymal stem cells into cells with a neuronal phenotype: RNA and microRNA expression profile.

artículo científico publicado en 2011

Expression gradient in sheep alpha alpha and alpha alpha alpha globin gene haplotypes: mRNA levels

scientific article published on 01 April 1994

Gc and C3 polymorphisms in South Sardinia

scientific article published on 01 January 1987

Genetic isolates in Corsica (France): linkage disequilibrium extension analysis on the Xq13 region

scientific article published on 01 August 2004

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

artículo científico publicado en 1995

Isolation rearing-induced reduction of brain 5α-reductase expression: relevance to dopaminergic impairments.

artículo científico publicado en 2011

Klf1 affects DNase II-alpha expression in the central macrophage of a fetal liver erythroblastic island: a non-cell-autonomous role in definitive erythropoiesis.

artículo científico

Molecular analysis of atypical beta-thalassemia heterozygotes

artículo científico publicado en 1990

Molecular basis of delta beta-thalassemia with normal fetal hemoglobin level.

artículo científico publicado en 1990

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

artículo científico publicado en 2001

Prenatal diagnosis of inherited hemoglobinopathies

artículo científico publicado en 1989

Recurrent mutations and three novel rearrangements in the factor VIII gene of hemophilia A patients of Italian descent.

artículo científico publicado en 1990

Reversible disruption of pre-pulse inhibition in hypomorphic-inducible and reversible CB1-/- mice.

artículo científico publicado en 2012

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

artículo científico publicado en 1990

The effect of the beta thalassemia mutation on the clinical severity of the sickle beta thalassemia syndrome

artículo científico publicado en 1989

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

artículo científico publicado en 2001

The role of the -50 region of the human gamma-globin gene in switching

artículo científico publicado en 2001

Variability of the CD4 and F13A1 short tandem repeats in Corsicans, Sardinians and Piaroa Indians

scientific article published on 01 April 1996

beta-Minor globin gene expression is preferentially reduced in EKLF Knock-Out mice.

artículo científico publicado en 2005

delta-Globin gene structure and expression in the K562 cell line.

artículo científico publicado en 2003

Lista de obras de Ristaldi MS

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

A spontaneous mutation produced a novel elongated beta-globin chain structural variant (Hb Agnana) with a thalassemia-like phenotype

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

Beta-thalassemia mutations in Corsica

Cri du chat mosaicism: an unusual case of partial deletion and partial deletion/ duplication of the short arm of chromosome 5, leading to an unusual cri du chat phenotype.

Different switching patterns of β-thalassaemic mutations at the proximal and distal CACCC box of the human HBB (β-globin) gene

Differentiation of human adult CD34+ stem cells into cells with a neural phenotype: role of astrocytes.

Differentiation of single cell derived human mesenchymal stem cells into cells with a neuronal phenotype: RNA and microRNA expression profile.

Expression gradient in sheep alpha alpha and alpha alpha alpha globin gene haplotypes: mRNA levels

Gc and C3 polymorphisms in South Sardinia

Genetic isolates in Corsica (France): linkage disequilibrium extension analysis on the Xq13 region

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

Isolation rearing-induced reduction of brain 5α-reductase expression: relevance to dopaminergic impairments.

Klf1 affects DNase II-alpha expression in the central macrophage of a fetal liver erythroblastic island: a non-cell-autonomous role in definitive erythropoiesis.

Molecular analysis of atypical beta-thalassemia heterozygotes

Molecular basis of delta beta-thalassemia with normal fetal hemoglobin level.

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

Prenatal diagnosis of inherited hemoglobinopathies

Recurrent mutations and three novel rearrangements in the factor VIII gene of hemophilia A patients of Italian descent.

Reversible disruption of pre-pulse inhibition in hypomorphic-inducible and reversible CB1-/- mice.

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

The effect of the beta thalassemia mutation on the clinical severity of the sickle beta thalassemia syndrome

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

The role of the -50 region of the human gamma-globin gene in switching

Variability of the CD4 and F13A1 short tandem repeats in Corsicans, Sardinians and Piaroa Indians

beta-Minor globin gene expression is preferentially reduced in EKLF Knock-Out mice.

delta-Globin gene structure and expression in the K562 cell line.