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Celocentesis for early prenatal diagnosis of hemoglobinopathy

Ultrasound in obstetrics & gynecology, 2020-11, Vol.56 (5), p.672-677

2020

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Incidence of haemoglobinopathies in Sicily: the impact of screening and prenatal diagnosis

International journal of clinical practice (Esher), 2015-10, Vol.69 (10), p.1129-1138

2015

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Coheredity of a new silent mutation: c.‐29G>T, with a severe β‐thal mutation in a patient with β‐thalassemia intermediate

International journal of laboratory hematology, 2018-04, Vol.40 (2), p.e17-e20

2018

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Co-heredity of silent CAP + 1570 T>C (HBB:c96T>C) defect and severe β-thal mutation: a cause of mild β-thalassemia intermedia

International journal of laboratory hematology, 2016-02, Vol.38 (1), p.17-26

2016

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Clinically Guided Genetic Screening in a Large Cohort of Italian Patients with Pheochromocytomas and/or Functional or Nonfunctional Paragangliomas

The journal of clinical endocrinology and metabolism, 2009-05, Vol.94 (5), p.1541-1547

2009

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Ultrasound in obstetrics & gynecology, 2020-11, Vol.56 (5), p.790-791

2020

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Ultrasound in obstetrics & gynecology, 2020-11, Vol.56 (5), p.790-791

2020

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Reply

Ultrasound in obstetrics & gynecology, 2020-11, Vol.56 (5), p.790-791

2020

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Successful application of preimplantation genetic diagnosis for β-thalassaemia and sickle cell anaemia in Italy

Human reproduction (Oxford), 2002-05, Vol.17 (5), p.1158-1165

2002

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Attitude of potential users in Sicily towards preimplantation genetic diagnosis for beta-thalassaemia and aneuploidies

Human reproduction (Oxford), 1998-07, Vol.13 (7), p.1936-1944

1998

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Rapid and Simultaneous Typing of Hemoglobin S, Hemoglobin C, and Seven Mediterranean β-Thalassemia Mutations by Covalent Reverse Dot-Blot Analysis: Application to Prenatal Diagnosis in Sicily

Blood, 1993-01, Vol.81 (1), p.239-242

1993

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Ultrasound in obstetrics & gynecology, 2020-11, Vol.56 (5), p.790-791

2020

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Iron deficiency does not compromise the diagnosis of high HbA2 thalassemia trait

Haematologica (Roma), 2012-03, Vol.97 (3), p.472-473

2012

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Analysis of delta-globin gene alleles in the Sicilian population: identification of five new mutations

Haematologica (Roma), 2006-12, Vol.91 (12), p.1681-1684

2006

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Mosaic segmental uniparental isodisomy and progressive clonal selection: a common mechanism of late onset -thalassemia major

Haematologica (Roma), 2013-05, Vol.98 (5), p.691-695

2013

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Evidence of induced non-tolerance in HLA-identical twins with hemoglobinopathy after in utero fetal transplantation

Bone marrow transplantation (Basingstoke), 1996-09, Vol.18 (3), p.637-639

1996

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β-Thalassemia microelectronic chip: A fast and accurate method for mutation detection

Clinical chemistry (Baltimore, Md.), 2004, Vol.50 (1), p.73-79

2004

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Evaluation of the BeTha Gene 1 Kit for the Qualitative Detection of the Eight Most Common Mediterranean β‐Thalassemia Mutations

American journal of hematology, 1998-11, Vol.59 (3), p.214-222

1998

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Rapid detection of six common Mediterranean and three non‐Mediterranean α‐thalassemia point mutations by reverse dot blot analysis

American journal of hematology, 2003-11, Vol.74 (3), p.191-195

2003

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Significance of borderline hemoglobin A2 values in an Italian population with a high prevalence of {beta}-thalassemia

Haematologica (Roma), 2008-09, Vol.93 (9), p.1380-1384

2008

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Lack of evidence of permanent engraftment after in utero fetal stem cell transplantation in congenital hemoglobinopathies

Transplantation, 1996-04, Vol.61 (8), p.1176

1996

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Reproductive genetics. Successful application of preimplantation genetic diagnosis for [beta]-thalassaemia and sickle cell anaemia in Italy

Human reproduction (Oxford), 2002-05, Vol.17 (5), p.1158

2002

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βA and βthal DNA haplotypes in Sicily

Human genetics, 1986-03, Vol.72 (3), p.229-230

1986

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β-Thalassemia Mutations in Sicily

Annals of the New York Academy of Sciences, 1990, Vol.612 (1), p.67-73

1990

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Evidence of the African Origin of Sickle Cell Hemoglobin in Western Sicily

Hemoglobin, 1988, Vol.12 (2), p.193-196

1988

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Celocentesis for early prenatal diagnosis of hemoglobinopathy

Incidence of haemoglobinopathies in Sicily: the impact of screening and prenatal diagnosis

Coheredity of a new silent mutation: c.‐29G>T, with a severe β‐thal mutation in a patient with β‐thalassemia intermediate

Co-heredity of silent CAP + 1570 T>C (HBB:c96T>C) defect and severe β-thal mutation: a cause of mild β-thalassemia intermedia

Clinically Guided Genetic Screening in a Large Cohort of Italian Patients with Pheochromocytomas and/or Functional or Nonfunctional Paragangliomas

Reply

Reply

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Successful application of preimplantation genetic diagnosis for β-thalassaemia and sickle cell anaemia in Italy

Attitude of potential users in Sicily towards preimplantation genetic diagnosis for beta-thalassaemia and aneuploidies

Rapid and Simultaneous Typing of Hemoglobin S, Hemoglobin C, and Seven Mediterranean β-Thalassemia Mutations by Covalent Reverse Dot-Blot Analysis: Application to Prenatal Diagnosis in Sicily

Reply

Iron deficiency does not compromise the diagnosis of high HbA2 thalassemia trait

Analysis of delta-globin gene alleles in the Sicilian population: identification of five new mutations

Mosaic segmental uniparental isodisomy and progressive clonal selection: a common mechanism of late onset -thalassemia major

Evidence of induced non-tolerance in HLA-identical twins with hemoglobinopathy after in utero fetal transplantation

β-Thalassemia microelectronic chip: A fast and accurate method for mutation detection

Evaluation of the BeTha Gene 1 Kit for the Qualitative Detection of the Eight Most Common Mediterranean β‐Thalassemia Mutations

Rapid detection of six common Mediterranean and three non‐Mediterranean α‐thalassemia point mutations by reverse dot blot analysis

Significance of borderline hemoglobin A2 values in an Italian population with a high prevalence of {beta}-thalassemia

Lack of evidence of permanent engraftment after in utero fetal stem cell transplantation in congenital hemoglobinopathies

Reproductive genetics. Successful application of preimplantation genetic diagnosis for [beta]-thalassaemia and sickle cell anaemia in Italy

βA and βthal DNA haplotypes in Sicily

β-Thalassemia Mutations in Sicily

Evidence of the African Origin of Sickle Cell Hemoglobin in Western Sicily

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