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Clinical and molecular analysis of haemoglobin H disease in Sardinia: haematological, obstetric and cardiac aspects in patients with different genotypes

British journal of haematology, 2007-01, Vol.136 (2), p.326-332

2007

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Red cell pyruvate kinase deficiency in Southern Sardinia

Blood cells, molecules, & diseases, 2010-12, Vol.45 (4), p.280-283

2010

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Relationship between neonatal screening results by HPLC and the number of α-thalassaemia gene mutations; consequences for the cut-off value

Journal of medical screening, 2011-01, Vol.18 (4), p.182-186

2011

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Cholelithiasis and Gilbert's syndrome in homozygous β‐thalassaemia

British journal of haematology, 2001-12, Vol.115 (4), p.926-928

2001

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Amelioration of Sardinian 0 thalassemia by genetic modifiers

Blood, 2009-10, Vol.114 (18), p.3935-3937

2009

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Compound heterozygosity for KLF1 mutations associated with remarkable increase of fetal hemoglobin and red cell protoporphyrin

Haematologica (Roma), 2011-05, Vol.96 (5), p.767-770

2011

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A genetic score for the prediction of beta-thalassemia severity

Haematologica (Roma), 2015-04, Vol.100 (4), p.452

2015

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Hyperbilirubinaemia in heterozygous β‐thalassaemia is related to co‐inherited Gilbert's syndrome

British journal of haematology, 1997-11, Vol.99 (2), p.433-436

1997

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Hyperbilirubinemia, glucose-6-phosphate-dehydrogenase deficiency and Gilbert's syndrome

European journal of pediatrics, 1999-11, Vol.158 (11), p.914-916

1999

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Molecular basis of congenital and acquired deafness

La Pediatria medica e chirurgica, 2005-09, Vol.27 (5), p.53

2005

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Genetic modifiers of -thalassemia and clinical severity as assessed by age at first transfusion

Haematologica (Roma), 2012-07, Vol.97 (7), p.989-993

2012

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Association of {alpha} globin gene quadruplication and heterozygous {beta} thalassemia in patients with thalassemia intermedia

Haematologica (Roma), 2009-10, Vol.94 (10), p.1445-1448

2009

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Thalassemia minor, the Gilbert mutation, and the risk of gallstones

Haematologica (Roma), 2003-10, Vol.88 (10), p.1106

2003

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Genotype of subjects with borderline hemoglobin A2 levels: Implication for, β‐thalassemia carrier screening

American journal of hematology, 1994-06, Vol.46 (2), p.79-81

1994

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Somatic deletion of the normal β‐globin gene leading to thalassaemia intermedia in heterozygous β‐thalassaemic patients

British journal of haematology, 2004-12, Vol.127 (5), p.604-606

2004

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Heterozygous β‐thalassemia with thalassemia intermedia phenotype

American journal of hematology, 1998-01, Vol.57 (1), p.43-47

1998

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Normal individuals with high Hb A2 levels

British journal of haematology, 1993-05, Vol.84 (1), p.166-168

1993

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Hemoglobin Cagliari (β 60 [E4] VAL → GLU): A Novel Unstable Thalassemic Hemoglobinopathy

Blood, 1991-01, Vol.77 (2), p.371-375

1991

Volltextzugriff (PDF)

A novel δº-Thalassemia mutation: TGG→TAG (TRP→STOP) at codon 37

Human mutation, 1994, Vol.3 (1), p.71-72

1994

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HB Puttelange [P140(HlS)ALAàVAL] in an Italian Man with Polycythemia

Hemoglobin, 1997, Vol.21 (1), p.17-26

1997

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Evaluation of an automatic HPLC analyser for thalassemia and haemoglobin variants screening

Journal of analytical methods in chemistry, 1995, Vol.17 (2), p.73-76

1995

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Identification and functional characterization of a new hemoglobin variant in Sardinia: Hb Muravera [beta47 GAT->GTT, (CD6) Asp->Val]

Haematologica (Roma), 2002-10, Vol.87 (10), p.1111

2002

Volltextzugriff (PDF)

HB A2-SANT' antioco [α2δ293(F9)CYS→GLY]: A new δ chain variant identified by sequencing of amplified DNA

Hemoglobin, 1994, Vol.18 (6), p.437-439

1994

Volltextzugriff (PDF)

Molecular characterization of a normal Hb A2β‐thalassaemia determinant in a Sardinian family

British journal of haematology, 1987-10, Vol.67 (2), p.225-229

1987

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Alpha thalassaemia in Sardinian newborns

British journal of haematology, 1984-10, Vol.58 (2), p.361-368

1984

Volltextzugriff (PDF)

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Clinical and molecular analysis of haemoglobin H disease in Sardinia: haematological, obstetric and cardiac aspects in patients with different genotypes

Red cell pyruvate kinase deficiency in Southern Sardinia

Relationship between neonatal screening results by HPLC and the number of α-thalassaemia gene mutations; consequences for the cut-off value

Cholelithiasis and Gilbert's syndrome in homozygous β‐thalassaemia

Amelioration of Sardinian 0 thalassemia by genetic modifiers

Compound heterozygosity for KLF1 mutations associated with remarkable increase of fetal hemoglobin and red cell protoporphyrin

A genetic score for the prediction of beta-thalassemia severity

Hyperbilirubinaemia in heterozygous β‐thalassaemia is related to co‐inherited Gilbert's syndrome

Hyperbilirubinemia, glucose-6-phosphate-dehydrogenase deficiency and Gilbert's syndrome

Molecular basis of congenital and acquired deafness

Genetic modifiers of -thalassemia and clinical severity as assessed by age at first transfusion

Association of {alpha} globin gene quadruplication and heterozygous {beta} thalassemia in patients with thalassemia intermedia

Thalassemia minor, the Gilbert mutation, and the risk of gallstones

Genotype of subjects with borderline hemoglobin A2 levels: Implication for, β‐thalassemia carrier screening

Somatic deletion of the normal β‐globin gene leading to thalassaemia intermedia in heterozygous β‐thalassaemic patients

Heterozygous β‐thalassemia with thalassemia intermedia phenotype

Normal individuals with high Hb A2 levels

Hemoglobin Cagliari (β 60 [E4] VAL → GLU): A Novel Unstable Thalassemic Hemoglobinopathy

A novel δº-Thalassemia mutation: TGG→TAG (TRP→STOP) at codon 37

HB Puttelange [P140(HlS)ALAàVAL] in an Italian Man with Polycythemia

Evaluation of an automatic HPLC analyser for thalassemia and haemoglobin variants screening

Identification and functional characterization of a new hemoglobin variant in Sardinia: Hb Muravera [beta47 GAT->GTT, (CD6) Asp->Val]

HB A2-SANT' antioco [α2δ293(F9)CYS→GLY]: A new δ chain variant identified by sequencing of amplified DNA

Molecular characterization of a normal Hb A2β‐thalassaemia determinant in a Sardinian family

Alpha thalassaemia in Sardinian newborns

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