Search Results - "Ristaldi, M S" :: K.UTB vyhledávací portál | TBU Library Retrieval Portal

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

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

by Marzella, Rosalia, Uda, Manuela, Rocchi, Mariano, Loi, Angela, Bonneau, Dominique, Cao, Antonio, Chiappe, Francesca, Gasparini, Paolo, Crisponi, Laura, Deiana, Manila, Schlessinger, David, Porcu, Susanna, Pilia, Giuseppe, Nicolino, Marc, Bisceglia, Luigi, Amati, Patrizia, Zelante, Leopoldo, Nagaraja, Ramaiah, Serafina Ristaldi, M, Lienhardt-Roussie, Anne, Nivelon, Annie, Verloes, Alain
Published in Nature genetics (01.02.2001)

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The prevention of thalassemia in Sardinia

The prevention of thalassemia in Sardinia

by Cao, A, Rosatelli, C, Galanello, R, Monni, G, Olla, G, Cossu, P, Ristaldi, M S
Published in Clinical genetics (01.11.1989)

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Activation of the δ-Globin Gene by the β-Globin Gene CACCC Motif

Activation of the δ-Globin Gene by the β-Globin Gene CACCC Motif

by Ristaldi, Maria Serafina, Casula, Stefania, Porcu, Susanna, Marongiu, Maria Franca, Pirastu, Mario, Cao, Antonio
Published in Blood cells, molecules, & diseases (01.08.1999)

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Beta-thalassemia mutations in Corsica

Beta-thalassemia mutations in Corsica

by Varesi, L, Vona, G, Memmi, M, Marongiu, F, Ristaldi, M S
Published in Hemoglobin (01.01.2000)

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

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

by Ristaldi, M S, Cao, A, Casula, S
Published in Blood (01.09.1995)

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

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

by Pirastu, M, Ristaldi, M S, Cao, A
Published in Journal of medical genetics (01.06.1989)

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Recurrent Mutations and Three Novel Rearrangements in the Factor VIII Gene of Hemophilia A Patients of Italian Descent

Recurrent Mutations and Three Novel Rearrangements in the Factor VIII Gene of Hemophilia A Patients of Italian Descent

by Casula, L., Murru, S., Pecorara, M., Ristaldi, M.S., Restagno, G., Mancuso, G., Morfini, M., Biasi, R. De, Baudo, F., Carbonara, A., Mori, P.G., Cao, A., Pirastu, M.
Published in Blood (01.02.1990)

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

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

by RISTALDI, M. S, PIRASTU, M, MELESENDI, C, MURRU, S, CASULA, L, LOUDIANOS, G, CAO, A, SCIARRATTA, G. V, AGOSTI, S, PARODI, M. I, LEONE, D
Published in Blood (15.03.1990)

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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

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

by Murru, D, Boccone, L, Ristaldi, M S, Nucaro, A L
Published in Genetic counseling (01.01.2008)

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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 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

by Ristaldi, M S, Murru, S, Loudianos, G, Casula, L, Porcu, S, Pigheddu, D, Fanni, B, Sciarratta, G V, Agosti, S, Parodi, M I
Published in British journal of haematology (01.04.1990)

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

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

by Ristaldi, M S, Pirastu, M, Rosatelli, C, Monni, G, Erlich, H, Saiki, R, Cao, A
Published in Prenatal diagnosis (01.09.1989)

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Molecular analysis of atypical beta-thalassemia heterozygotes

Molecular analysis of atypical beta-thalassemia heterozygotes

by Pirastu, M, Ristaldi, M S, Loudianos, G, Murru, S, Sciarratta, G V, Parodi, M I, Leone, D, Agosti, S, Cao, A
Published in Annals of the New York Academy of Sciences (1990)

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Prenatal diagnosis of inherited hemoglobinopathies

Prenatal diagnosis of inherited hemoglobinopathies

by Cao, A, Rosatelli, C, Galanello, R, Ristaldi, M S
Published in Indian journal of pediatrics (01.11.1989)

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Expression gradient in sheep αα and ααα globin gene haplotypes : mRNA levels

Expression gradient in sheep αα and ααα globin gene haplotypes : mRNA levels

by VESTRI, R, PIERAGOSTINI, E, RISTALDI, M. S
Published in Blood (15.04.1994)

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Carrier detection and early diagnosis of Wilson's disease by restriction fragment length polymorphism analysis

Carrier detection and early diagnosis of Wilson's disease by restriction fragment length polymorphism analysis

by Figus, A, Lampis, R, Devoto, M, Ristaldi, M S, Ideo, A, de Virgilis, S, Nurchi, A M, Corrias, A, Corda, R, Lai, M E
Published in Journal of medical genetics (01.02.1989)

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

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

by Ristaldi, Maria Serafina, Drabek, Dubravka, Gribnau, Joost, Poddie, Daniela, Yannoutsous, Nikos, Cao, Antonio, Grosveld, Frank, Imam, A.M.Ali
Published in The EMBO journal (17.09.2001)

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

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

by Perseu, L, Ristaldi, M S, Dibenedetto, S P, Testa, R, Schilirò, G, Pirastu, M, Cao, A
Published in Haematologica (Roma) (01.07.1989)

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Gc and C3 polymorphisms in South Sardinia

Gc and C3 polymorphisms in South Sardinia

by Floris-Masala, R, Gruppioni, G, Lunesu, M, Mameli, G E, Porcella, P, Ristaldi, M S, Succa, V, Vona, G
Published in Human heredity (1987)

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Prenatal diagnosis of beta-thalassemia in Italian population

Prenatal diagnosis of beta-thalassemia in Italian population

by Cao, A, Pirastu, M, Ristaldi, M S, Leoni, G B, Monni, G, Rosatelli, M C
Published in Haematologica (Roma) (01.09.1988)

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Normal δ globin gene sequence in carrier of the silent −101 (C‐T) β‐thalassemia mutation with normal HbA2 level

Normal δ globin gene sequence in carrier of the silent −101 (C‐T) β‐thalassemia mutation with normal HbA2 level

by Ristaldi, Maria Serafina, Casula, Stefania, Porcu, Susanna, Cao, Antonio
Published in American journal of hematology (01.05.2001)

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