A. Cao

F. Muntoni, L. Boccone, A. Cao, 1998, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

PRENATAL DIAGNOSIS OF β-THALASSÆMIA AND SICKLE-CELL ANÆMIA Experience with 24 Cases

Y. Kan, A. Cao, M. Golbus, 1977, The Lancet.

Delineation of specific beta-thalassemia mutations in high-risk areas of Italy: a prerequisite for prenatal diagnosis.

G. Saglio, M. Pirastu, A. Cao, 1988, Blood.

Molecular comparison of delta beta-thalassemia and hereditary persistence of fetal hemoglobin DNAs: evidence of a regulatory area?

R. Taramelli, M. Baiget, G. Saglio, 1982, Proceedings of the National Academy of Sciences of the United States of America.

THE PRENATAL DIAGNOSIS OF THALASSAEMIA

M. Pirastu, A. Cao, C. Rosatelli, 1986, British journal of haematology.

Molecular mechanism accounting for milder types of thalassemia major.

A. Meloni, A. Cao, A. M. Falchi, 1983, The Journal of pediatrics.

A homozygous nonsense mutation of the human growth hormone receptor gene in a Sardinian boy with Laron-type dwarfism

S. Loche, A. Meloni, P. Moi, 1997, Journal of endocrinological investigation.

Relationship between transfusion regimen and suppression of erythropoiesis in β‐thalassaemia major

M. Cazzola, F. Locatelli, A. Cao, 1995, British journal of haematology.

Genotype-phenotype correlations in beta-thalassemias.

A. Cao, R. Galanello, M. Rosatelli, 1994, Blood reviews.

beta zero thalassemia in Sardinia is caused by a nonsense mutation.

Y. Kan, S. Liebhaber, A. Cao, 1981, The Journal of clinical investigation.

Percentile curves for red cell indices of 413-1413-1413-1heterozygotes in infancy and childhood

F. Lilliu, A. Cao, R. Galanello, 1991, European Journal of Pediatrics.

Antenatal Diagnosis of β‐Thalassemia in Sardinia a

A. Cao, R. Galanello, M. Rosatelli, 1990 .

Erythropoiesis following bone marrow transplantation from donors heterozygous for β‐thalassaemia

A. Cao, R. Galanello, S. Barella, 1989, British journal of haematology.

Prenatal diagnosis ofv thalassaemia by oligonucleotide analysis inMediterranean populations

A. Cao, G. Monni, A. Di Tucci, 1988 .

Problems in prenatal diagnosis of β‐thalassaemia by fetal blood analysis: β‐chain variant comigrating with gamma chains

A. Cao, G. Monni, A. Di Tucci, 1988 .

Pitfalls in genetic counselling for β‐thalassemia: an individual with 4 different thalassemia mutations

A. Cao, R. Galanello, M. Addis, 1988, Clinical genetics.

Homozygous βd`-39 Mutation with Thalassemia Intermedia in Northern Sardinia: Clinical, Hematological and Molecular Analysis

M. Pirastu, A. Cao, L. Oggiano, 1988 .

Results of programmes for antenatal detection of thalassemia in reducing the incidence of the disorder.

A. Cao, 1987, Blood reviews.

Chorionic villus sampling and acceptance rate of prenatal diagnosis

A. Cao, G. Monni, M. Rosatelli, 1987, Prenatal diagnosis.

DIAGNOSIS OF THALASSEMIA BY DNA ANALYSIS

M. Pirastu, A. Cao, C. Rosatelli, 1987 .

Antenatal Diagnosis of Thalassemia Major in Sardinia a

M. Pirastu, A. Cao, G. Monni, 1985, Annals of the New York Academy of Sciences.

PRENATAL DIAGNOSIS OF BETA-THALASSAEMIA WITH THE SYNTHETIC-OLIGOMER TECHNIQUE

A. Cao, G. Monni, A. M. Falchi, 1985, The Lancet.

Prenatal Diagnosis of β-Thalassemia by the Analysis of Trophoblast DNA with the Synthetic Oligomer Technique

A. Cao, G. Monni, C. Rosatelli, 1985 .

Alpha thalassaemia in Sardinian newborns

A. Cao, R. Galanello, L. Perseu, 1984, British journal of haematology.

Control of homozygous β‐thalassemia by carrier screening and antenatal diagnosis in Sardinians

A. Cao, R. Galanello, C. Rosatelli, 1984, Clinical genetics.

A genetic combination of silent beta-thalassaemia, high Hb A2 beta-thalassaemia, and single alpha globin gene deletion causing mild thalassaemia intermedia.

A. Nurchi, A. Cao, R. Galanello, 1984, Journal of medical genetics.

Hematological phenotype of the double heterozygous state for alpha and beta thalassemia.

A. Cao, A. M. Falchi, M. Furbetta, 1984, Hemoglobin.

Thalassemia types in Southern Sardinia.

A. Cao, R. Galanello, M. Furbetta, 1982, Birth defects original article series.

Beta-Thalassaemia types in southern Sardinia.

A. Cao, R. Galanello, A. M. Falchi, 1981, Journal of medical genetics.

Early onset of homozygous betao-thalassaemia associated with neonatal jaundice.

A. Cao, G. Congiu, M. Furbetta, 1978, Archives of disease in childhood.

A novel missense mutation (C84R) in a patient with type II vitamin d-dependent rickets.

A. Meloni, P. Moi, A. Cao, 2010, Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association.

Neonatal onset of nephrogenic syndrome of inappropriate antidiuresis

V. Fanos, M. Puddu, A. Cao, 2008, Pediatric Nephrology.

Molecular Characterization of P-Thalassemia Intermedia in Patients of Italian Descent and Identification of Three Novel P-Thalassemia Mutations

G. Loudianos, M. Pirastu, A. Cao, 2003 .

Thalassaemia and Glucose-6-Phosphate Dehydrogenase Screening in 13- to 14-Year-Old Students of the Sardinian Population: Preliminary Findings

A. Cao, R. Galanello, M. C. Sollaino, 2008, Public Health Genomics.

Two novel mutations (10410 T→G; 10296 del C) at carboxy‐terminus of the dystrophin gene associated with mental retardation

F. Muntoni, A. Cao, A. Mateddu, 1998, Human mutation.

Novel nonsense mutation (C→A nt 10512) in exon 72 of dystrophin gene leading to exon skipping in a patient with a mild dystrophinopathy

F. Muntoni, C. Cianchetti, L. Boccone, 1998 .

DNA and RNA studies for molecular characterization of a gross deletion detected in homozygosity in the NH2-terminal region of the ATP7B gene in a Wilson disease patient.

G. Loudianos, A. Cao, R. Iorio, 2011, Molecular and cellular probes.

Development of TaqMan allelic specific discrimination assay for detection of the most common Sardinian Wilson's disease mutations. Implications for genetic screening.

G. Loudianos, S. De Virgiliis, A. Cao, 2010, Molecular and cellular probes.

Fetal HLA typing in β thalassaemia: implications for haemopoietic stem-cell transplantation

A. Cao, P. Cossu, M. Lai, 2003, The Lancet.

Clinical experience of management of thalassemia: the Sardinian experience.

S. De Virgiliis, A. Cao, R. Galanello, 1996, Seminars in hematology.

Alpha globin gene duplications in beta thalassemia patients with intact beta globin gene.

A. Cao, M. Masala, M. Rosatelli, 2010, Blood cells, molecules & diseases.

Multiple mutations produce delta beta 0 thalassemia in Sardinia.

Y. Kan, M. Pirastu, A. Cao, 1984, Science.

β THALASSAEMIA MUTATIONS IN MEDITERRANEAN POPULATIONS

M. Pirastu, A. Cao, M. Gossens, 1989, British journal of haematology.

Hemoglobin Constitution of Double Heterozygotes for α or β-Thalassemia and HB J Sardegna

A. Cao, R. Galanello, L. Maccioni, 1984 .

Bannayan–Riley–Ruvalcaba syndrome with reactive nodular lymphoid hyperplasia and autism and a PTEN mutation

L. Boccone, G. Loudianos, S. De Virgiliis, 2006, American journal of medical genetics. Part A.

phenotype thalassemia resulting in a silent clinical 0 β - δ Homozygosity for nondeletion

A. Cao, R. Galanello, S. Satta, 2012 .

Homozygosity for nondeletion δ-β0 thalassemia resulting in a silent clinical phenotype

A. Cao, R. Galanello, S. Satta, 2002 .

Co-inherited Gilbert's syndrome: a factor determining hyperbilirubinemia in homozygous beta-thalassemia.

A. Cao, R. Galanello, C. Dessì, 1999, Haematologica.

Normal Δ-Globin Gene Sequences in Sardinian Nondeletional Δβ-Thalassemia

J. Lavinha, G. Loudianos, P. Moi, 1992 .

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

P. Moi, M. Pirastu, A. Cao, 1987, British journal of haematology.

Alpha-thalassemia

A. Cao, R. Galanello, 2011, Genetics in Medicine.

HB Sassari [α126(H9)ASPHIS] Results from a GACCAC Mutation in the α1-Globin Gene

A. Cao, R. Galanello, S. Satta, 1998 .

Interaction of heterozygous βo‐thalassemia with single functional α‐globin gene

P. Moi, A. Cao, R. Galanello, 1988 .

α-Thalassemia in Premature Newborns

A. Cao, R. Galanello, A. Marras, 1986, Pediatric Research.

Pitfalls in prenatal diagnosis of beta thalassaemia.

A. Cao, L. Maccioni, C. Rosatelli, 1986, Journal of medical genetics.

Molecular pathology of haemoglobin H disease in Sardinians

P. Moi, M. Pirastu, A. Cao, 1986, British journal of haematology.

Longitudinal Study of a Newborn with a Combination of Deletion and Nondeletion α-Thalassemia-2

M. Pirastu, A. Cao, R. Galanello, 1984, Pediatric Research.

Phenotype-genotype correlation in haemoglobin H disease in childhood.

P. Moi, M. Pirastu, A. Cao, 1983, Journal of medical genetics.

Association of two DNA polymorphisms in the alpha-globin gene cluster: implications for genetic analysis.

J. Clegg, D. Weatherall, D. Higgs, 1983, American journal of human genetics.

Phenotypic effect of heterozygous alpha and beta 0-thalassemia interaction.

M. Pirastu, A. Cao, R. Galanello, 1983, Blood.

Alpha globin gene analysis in a Sardinian family with interacting alpha and beta thalassaemia genes

A. Cao, R. Galanello, M. Melis, 1983, British journal of haematology.

Early and severe neurological features in a Wilson disease patient compound heterozygous for two frameshift mutations

A. Angius, V. Dessì, M. Lovicu, 1998, European Journal of Pediatrics.

Recent advances in β-thalassemias

P. Moi, A. Cao, R. Galanello, 2011, Pediatric reports.

Osmotic fragility test in heterozygotes for alpha and beta thalassaemia.

A. Cao, L. Maccioni, 1985, Journal of medical genetics.

The deltaccr5 mutation conferring protection against HIV-1 in Caucasian populations has a single and recent origin in Northeastern Europe.

L. Peltonen, M. Parmentier, A. Czeizel, 1998, Human molecular genetics.

Prenatal Diagnosis of β - Thalassemia

Carlo Valenti, Y. Kan, M. Pirastu, 1983 .

Plasmodium malariae transfusion malaria in splenectomized patients with thalassemia major.

S. De Virgiliis, A. Cao, R. Galanello, 1981, The Journal of pediatrics.

Screening for thalassemia: a model of success.

Maria Cristina Rosatelli, A. Cao, R. Galanello, 2002, Obstetrics and gynecology clinics of North America.

Prenatal diagnosis and screening of the haemoglobinopathies.

A. Cao, R. Galanello, M. Rosatelli, 1999, Bailliere's clinical haematology.

8 Prenatal diagnosis and screening of the haemoglobinopathies

A. Cao, R. Galanello, M. Rosatelli, 1998 .

The interaction of α thalassaemia with heterozygous β thalassaemia

D. Weatherall, E. Kanavakis, W. Wood, 1982, British journal of haematology.

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

A. Cao, R. Galanello, L. Perseu, 1997, British journal of haematology.

9 Screening and prenatal diagnosis of the haemoglobinopathies

A. Cao, M. Rosatelli, 1993 .

Serum erythropoietin and erythropoiesis in high- and low-fetal hemoglobin beta-thalassemia intermedia patients.

G. Barosi, A. Cao, R. Galanello, 1994, Blood.

Genetic Modifying Factors in β-Thalassemia

P. Moi, A. Cao, 2000 .

A family with segregating triplicated alpha globin loci and beta thalassemia.

A. Cao, R. Galanello, E. Paglietti, 1983, Blood.

Haematological characteristics of the beta 0 thalassaemia trait in Sardinian children.

S. De Virgiliis, A. Cao, R. Galanello, 1980, Journal of clinical pathology.

DNA polymorphisms at the BCL11A, HBS1L-MYB, and β-globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease

J. Hirschhorn, D. Schlessinger, S. Orkin, 2008, Proceedings of the National Academy of Sciences.

The same beta-globin gene mutation is present on nine different beta-thalassemia chromosomes in a Sardinian population.

Y. Kan, M. Pirastu, A. Cao, 1987, Proceedings of the National Academy of Sciences of the United States of America.

Human α-globin gene expression is silenced by terminal truncation of chromosome 16p beginning immediately 3′ of the ζ-globin gene

S. Liebhaber, M. Pirastu, A. Cao, 1992, Human Genetics.

PHENOTYPIC MANIFESTATIONS OF HETEROZYGOUS NON‐DELETION α‐THALASSAEMIA (αα/(αα)th) IN SARDINIANS

A. Cao, R. Galanello, E. Paglietti, 1983 .

Regulation of the Globin Genes

P. Moi, A. Cao, 2002, Pediatric Research.

Diagnosis of the β0 Thalassemia Trait at Birth

A. Cao, A. M. Falchi, M. Furbetta, 1981 .

Induction of fetal hemoglobin in the presence of increased 3-hydroxybutyric acid associated with beta-ketothiolase deficiency.

A. Cao, R. Galanello, N. Olivieri, 1994, The New England journal of medicine.

Isoelectric Focusing of Globin Chains for Antenatal Diagnosis of β°-Thalassemia

A. Cao, S. Ottolenghi, B. Giglioni, 1981 .

FETAL HÆMOGLOBIN AND MALARIA

A. Cao, R. Galanello, M. Melis, 1977, The Lancet.

Delta +-thalassemia in Sardinia.

Y. Kan, M. Pirastu, A. Cao, 1983, Blood.

The C–T substitution in the distal CACCC box of the β‐globin gene promoter is a common cause of silent β thalassaemia in the Italian population

G. Loudianos, M. Pirastu, A. Cao, 1990 .

Genotype-phenotype correlations in -thalassemias

A. Cao, R. Galanello, M. Rosatelli, 1994 .

Beta thalassaemia mutations in Turkish Cypriots.

A. Figus, M. Pirastu, A. Cao, 1988, Journal of medical genetics.

Beta thalassaemia mutations in the Turkish population.

N. Akar, M. Pirastu, A. Cao, 1987, Journal of medical genetics.

PRENATAL DIAGNOSIS OF β THALASSEMIA: EXPERIENCE WITH 133 CASES AND THE EFFECT OF FETAL BLOOD SAMPLING ON CHILD DEVELOPMENT *

A. Cao, M. Furbetta, A. Angius, 1980, Annals of the New York Academy of Sciences.

Molecular basis of hemoglobin-H disease in the Mediterranean population

G. Stamatoyannopoulos, Y. Kan, A. Cao, 1979 .

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

A. Cao, R. Galanello, L. Perseu, 1994 .

Carrier screening and genetic counselling in beta-thalassemia.

A. Cao, 2002, International journal of hematology.

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

A. Cao, S. Porcu, M. S. Ristaldi, 2001, American journal of hematology.

Iron stores and iron deficiency anemia in children heterozygous for beta-thalassemia.

A. Cao, R. Galanello, C. Dessì, 1990, Haematologica.

Haematological and obstetric aspects of antenatal diagnosis of beta-thalassaemia: experience with 200 cases.

A. Cao, A. M. Falchi, M. Furbetta, 1982, Journal of medical genetics.

Prevention of homozyous /-thalassemia by carrier screening and prenatal diagnosis in Sardinia

A. Cao, R. Galanello, E. Paglietti, 1981 .

Prenatal Diagnosis of β Thalassaemia by Fetal Red Cell Enrichment with NH4Cl‐NH4HCO3 Differential Lysis of Maternal Cells

A. Cao, M. Furbetta, C. Rosatelli, 1980, British journal of haematology.

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

A. Cao, M. S. Ristaldi, S. Casula, 1995, Blood.

184-192 a ( F )-thalassaemia in Sardinia

A. Cao, M. Melis, P. GIORDANOt, 2022 .

SCREENING FOR THALASSAEMIA

A. Cao, D. Loukopoulos, R. Galanello, 1980, The Lancet.

Interaction of α- and δβ0-thalassaemia: haematological features and globin chain synthesis analysis

A. Cao, R. Galanello, M. Melis, 1981 .

Knossos variant (letter) Molecular basis of the delta thalassemia in cis to hemoglobin

G. Vassilopoulos, G. Loudianos, M. Pirastu, 2012 .

Prenatal diagnosis of thalassaemia major resulting from Lepore/ beta-thalassaemia genotype.

A. Cao, A. M. Falchi, M. Furbetta, 1981, Journal of medical genetics.

alpha-Thalassaemia in Sardinian infants.

A. Cao, R. Galanello, G. Diana, 1980, Journal of medical genetics.

Prospective study of red blood cell indices, hemoglobin A2, and hemoglobin F in infants heterozygous for Beta-thalassemia.

A. Cao, R. Galanello, R. Ruggeri, 1981, The Journal of pediatrics.

Effect of consanguinity on screening for thalassemia.

A. Cao, R. Galanello, 2002, The New England journal of medicine.

The prevention of thalassemia in Sardinia.

A. Cao, R. Galanello, G. Monni, 1989, Clinical genetics.

Klf1 Affects DNase II-Alpha Expression in the Central Macrophage of a Fetal Liver Erythroblastic Island: a Non-Cell-Autonomous Role in Definitive Erythropoiesis

F. Grosveld, P. Moi, A. Cao, 2011, Molecular and Cellular Biology.

Molecular Diagnosis and Carrier Screening for β Thalassemia

A. Cao, R. Galanello, L. Saba, 1997 .

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

R. Saiki, H. Erlich, M. Pirastu, 1989, Prenatal diagnosis.

A novel mediterranean “δβ‐thalassemia” determinant containing the δ+27 and β°39 point mutations in cis

G. Loudianos, M. Pirastu, A. Cao, 1994 .

Polymorphism of DNA Sequence in the β-Globin Gene Region

Y. Kan, A. Cao, M. Furbetta, 1980 .

Genetic and molecular diversity in nondeletion Hb H disease.

J. Clegg, D. Weatherall, D. Higgs, 1981, Proceedings of the National Academy of Sciences of the United States of America.

Molecular basis of hemoglobin-H disease in the Mediterranean population.

G. Stamatoyannopoulos, Y. Kan, A. Cao, 1979, Blood.

KLF1 gene mutations cause borderline HbA(2).

P. Moi, A. Cao, R. Galanello, 2011, Blood.

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

M. Pirastu, A. Cao, L. Perseu, 1989, Haematologica.

A beta-thalassaemia allele with 3 base substitution in codons 4/5 & 6 (ACT CCT GAG-> ACA TCT TAG) detected by denaturing gradient gel electrophoresis & sequencing.

I. Verma, A. Cao, R. Saxena, 2000, The Indian journal of medical research.

Prenatal diagnosis of beta-thalassemia. Experience with 24 cases.

A. Cao, P. Fioretti, A. Nasi, 1978, Israel journal of medical sciences.

Hemoglobin A2 in Iron Deficient 8-Thalassemia Heterozygotes

A. Cao, R. Galanello, E. Paglietti, 1981 .

Mitochondrial DNA polymorphisms in Italy I. Population data from Sardinia and Rome

D. Wallace, R. Scozzari, A. Cao, 1986, Annals of human genetics.

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

M. Pirastu, A. Cao, M. S. Ristaldi, 2022 .

Preliminary experience with the differential pH technique for glucose-6-phosphate dehydrogenase (G6PD) measurement in whole blood: application to an area with high prevalence of thalassaemia and G6PD deficiency.

A. Cao, A. Mosca, R. Paleari, 1990, Haematologica.

Hemoglobin Cagliari (beta 60 [E4] Val----Glu): a novel unstable thalassemic hemoglobinopathy.

A. Cao, R. Galanello, L. Perseu, 1991, Blood.

Delineation of the molecular defects in the AIRE gene in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients from Southern Italy.

A. Cao, E. Corvaglia, R. Perniola, 2002, The Journal of clinical endocrinology and metabolism.

A new glucose 6 phosphate dehydrogenase variant, G6PD Sinnai (34 G→T)

A. Cao, R. Galanello, S. Dessì, 1998, Human mutation.

Cloning MafF by recognition site screening with the NFE2 tandem repeat of HS2: analysis of its role in globin and GCSl genes regulation.

Y. Kan, P. Moi, A. Cao, 2002, Blood cells, molecules & diseases.

r-thalassaemia types insouthern Sardinia

A. Cao, R. Galanello, A. M. Falchi, 1981 .

Hemoglobin H disease in Sardinia: phenotypic and genetic observations.

A. Cao, R. Galanello, M. Furbetta, 1978, Hemoglobin.

A novel silent β‐thalassemia mutation in the distal CACCC box affects the binding and responsiveness to EKLF

P. Moi, A. Cao, M. Marini, 2004, British journal of haematology.

A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients

S. Antonarakis, N. Shimizu, M. Devoto, 1998, Human Genetics.

Interaction of Alpha and Beta Thalassaemia Genes in Two Sardinian Families

A. Cao, R. Galanello, M. Furbetta, 1979, British journal of haematology.

A novel mutation in the GLC1A gene causes juvenile open-angle glaucoma in 4 families from the Italian region of Puglia.

N. Orzalesi, A. Angius, M. Pirastu, 1998, Archives of ophthalmology.

A synonymous mutation in the CFTR gene causes aberrant splicing in an italian patient affected by a mild form of cystic fibrosis.

Maria Cristina Rosatelli, A. Cao, Valeria Faa', 2010, The Journal of molecular diagnostics : JMD.

Control of homozygous beta-thalassemia by carrier screening and antenatal diagnosis in Sardinia.

A. Cao, R. Galanello, E. Paglietti, 1982, Birth defects original article series.

Characterization of a Disease-associated Mutation Affecting a Putative Splicing Regulatory Element in Intron 6b of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Gene*

A. Cao, M. Seia, D. Corda, 2009, The Journal of Biological Chemistry.

Clinical Research Update: Thalassemias in Sardinia Molecular Pathology, Phenotype‐Genotype Correlation, and Prevention

M. Pirastu, A. Cao, R. Galanello, 1991, The American journal of pediatric hematology/oncology.

Prenatal diagnosis of homozygous β-thalassæmia

Y. Kan, A. Cao, M. Golbus, 1975, The Lancet.

Brief report: deletion of the dystrophin muscle-promoter region associated with X-linked dilated cardiomyopathy.

F. Muntoni, A. Cao, C. Cianchetti, 1993, The New England journal of medicine.

Quantitation of Hb a2 with DE-52 microchromatography in whole blood as screening test for beta-thalassemia heterozygotes.

A. Cao, R. Galanello, P. Muroni, 1977, Acta haematologica.

A missense (T577I) mutation in the luteinizing hormone receptor gene associated with familial male‐limited precocious puberty

A. Meloni, A. Cao, S. Cocco, 1996, Human mutation.

Posttranslational deamidation of proteins: the case of hemoglobin J Sardegna [alpha50(CD8)His-->Asn-->Asp].

A. Cao, A. Mosca, R. Paleari, 1999, Clinical chemistry.

Molecular Analysis of fl#{176}-Thalassemia Intermedia in Sardinia

M. Pirastu, A. Cao, E. Cacace, 2005 .

Genetic counseling and genetic heterogeneity in the thalassemias

A. Cao, R. Galanello, E. Paglietti, 1985, Clinical genetics.

a(F)-thalassaemia inSardinia

A. Cao, R. Galanello, M. Melis, 1982 .

Prenatal diagnosis of beta-thalassaemia by fetal red cell concentration with anti-AB serum.

A. Cao, P. Fioretti, M. Furbetta, 1979, Journal of medical genetics.

Prenatal diagnosis of3-thalassaemia byfetal redcell concentration withanti-AB serum1

A. Cao, P. Fioretti, M. Furbetta, 1979 .

Prenatal diagnosis of 3-thalassaemia by fetal red cell concentration with anti-AB serum1

A. Cao, P. Fioretti, M. Furbetta, 2022 .

Quality of life and survival of patients with beta-thalassemia major.

A. Cao, 2004, Haematologica.

A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome

F. Emma, O. Zuffardi, A. Cao, 2006, Journal of Human Genetics.

Two novel mutations of the AIRE protein affecting its homodimerization properties

A. Meloni, A. Cao, E. Fiorillo, 2005, Human mutation.

Twenty-four novel mutations in Wilson disease patients of predominantly Italian origin.

M. T. Pellecchia, Giuseppe Maggiore, Raffaele Iorio, 2007, Genetic testing.

Genetic history of cystic fibrosis mutations in Italy. I. Regional distribution

A. Piazza, P. Pignatti, A. Villani, 1997, Annals of human genetics.

Molecular characterization of b̃-thalassemia in Sardinian polulation

Y. Kan, A. Cao, A. Dozy, 1992 .

Beta thalassaemia mutations in Sardinians: implications for prenatal diagnosis.

A. Cao, A. Di Tucci, C. Rosatelli, 1987, Journal of medical genetics.

REVIEW ARTICLE Regulation of the Globin Genes

P. Moi, A. Cao, 2002 .

Prenatal diagnosis of inherited hemoglobinopathies

A. Cao, R. Galanello, M. S. Ristaldi, 1986, Journal de genetique humaine.

Activation of the d-Globin Gene by the -Globin Gene CACCC Motif

M. Pirastu, A. Cao, S. Porcu, 1999 .

thalassemia Delineation of the molecular basis of delta- and normal HbA2 beta-

P. Moi, M. Pirastu, A. Cao, 2011 .

Second-trimester placental biopsy versus amniocentesis for prenatal diagnosis of beta-thalassemia.

A. Cao, G. Monni, C. Rosatelli, 1990, The New England journal of medicine.

Hb Hinwil or β38(C4)THR→ASN: A new β Chain Variant Detected in a Swiss Family

A. Cao, J. Fehr, P. Hunziker, 1996 .

Heterozygous β‐thalassemia with thalassemia intermedia phenotype

A. Cao, R. Galanello, L. Perseu, 1998 .

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

Marco Melis, A. Cao, S. Porcu, 2005 .

In vivo activation of the human δ-globin gene: the therapeutic potential in β-thalassemic mice

P. Moi, A. Cao, R. Galanello, 2014, Haematologica.

Isolation of a differentially regulated splicing isoform of human NF-E2.

Y. Kan, P. Moi, A. Cao, 1995, Proceedings of the National Academy of Sciences of the United States of America.

Heterozygous beta-thalassemia with thalassemia intermedia phenotype.

A. Cao, R. Galanello, L. Perseu, 1998, American journal of hematology.

Regulation of the human HBA genes by KLF4 in erythroid cell lines

P. Moi, A. Cao, T. Ikuta, 2010, British journal of haematology.

New frameshift mutation in the DAX‐1 gene in a patient with X‐linked adrenal hypoplasia and hypogonadotropic hypogonadism

A. Meloni, A. Cao, A. Meloni, 1996, Human mutation.

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

A. Cao, D. Drabek, T. de Wit, 2016, British journal of haematology.

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

F. Grosveld, J. Gribnau, A. Cao, 2001 .

Improvement of prenatal diagnosis of wilson disease using microsatellite markers

A. Angius, G. Loudianos, V. Dessì, 1994, Prenatal diagnosis.

Thalassaemia‐like carriers not linked to the β‐globin gene cluster

A. Cao, L. Moi, A. Meloni, 2006, British journal of haematology.

Dystrophin analysis using a panel of anti-dystrophin antibodies in Duchenne and Becker muscular dystrophy.

F. Muntoni, C. Cianchetti, A. Clerk, 1993, Journal of neurology, neurosurgery, and psychiatry.

Diagnosis of DMD Carrier Status in a Family with No Known Affected Males

F. Muntoni, A. Cao, A. Mateddu, 1993, Developmental medicine and child neurology.

A novel interstitial deletion in Xq25, identified by array-CGH in a patient with Lowe syndrome.

F. Emma, O. Zuffardi, A. Cao, 2007, European journal of medical genetics.

A new insertion/deletion of the cystic fibrosis transmembrane conductance regulator gene accounts for 3.4% of cystic fibrosis mutations in Sardinia: implications for population screening.

A. Cao, M. Zanda, M. Rosatelli, 2006, The Journal of molecular diagnostics : JMD.

The distal β‐globin CACCC box is required for maximal stimulation of the β‐globin gene by EKLF

P. Moi, A. Cao, I. Asunis, 2004, British journal of haematology.

Prenatal diagnosis of beta-thalassemia. Detection of a single nucleotide mutation in DNA.

Y W Kan, Y. Kan, M. Pirastu, 1983, The New England journal of medicine.

Illegitimate recombination produced a duplication within the FVIII gene in a patient with mild hemophilia A.

M. Pirastu, A. Cao, S. Murru, 1990, Genomics.

Human alpha-globin gene expression is silenced by terminal truncation of chromosome 16p beginning immediately 3' of the zeta-globin gene.

S. Liebhaber, M. Pirastu, A. Cao, 1992, Human genetics.

Screening and prenatal diagnosis of the haemoglobinopathies.

A. Cao, M. Rosatelli, 1993, Bailliere's clinical haematology.

Hemoglobin inclusions in heterozygous alpha-thalassemia according to their alpha-globin genotype.

A. Cao, R. Galanello, E. Paglietti, 1984, Acta haematologica.

Normal individuals with high Hb A2 levels

A. Cao, R. Galanello, L. Perseu, 1993, British journal of haematology.

A β‐thalassaemia phenotype not linked to the β‐globin cluster in an Italian family

G. Loudianos, M. Pirastu, A. Cao, 1992 .

A genetic combination ofsilent 3-thalassaemia, high HbA, (-thalassaemia, andsingle ocglobin genedeletion causing mild thalassaemia intermedia

A. Nurchi, A. Cao, R. Galanello, 2011 .

Globin gene mapping studies in Sardinian patients homozygous for beta zero Thalassaemia.

J. Bell, D. Weatherall, A. Cao, 1983, Molecular biology & medicine.

Haplotype and mutation analysis in Greek patients with Wilson disease

M. Tzetis, E. Kanavakis, A. Angius, 1998, European Journal of Human Genetics.

Heterozygous beta-thalassemia: relationship between the hematological phenotype and the type of beta-thalassemia mutation.

A. Cao, A. Mosca, R. Galanello, 1992, American journal of hematology.

Molecular diagnosis and carrier screening for beta thalassemia.

A. Cao, R. Galanello, L. Saba, 1997, JAMA.

Molecular basis of beta-thalassemia intermedia in a southern Italian region (Puglia).

A. Cao, A. Loi, M. Addis, 1991, Acta haematologica.

A specific cystic fibrosis mutation (T3381) associated with the phenotype of isolated hypotonic dehydration.

S. Pitzalis, A. Cao, M. Zanda, 1995, The Journal of pediatrics.

Molecular analysis of patients of Sardinian descent with Crigler-Najjar syndrome type I.

A. Cao, M. Piga, G. Meloni, 1997, Journal of medical genetics.

Y418C: a novel mutation in exon 9 of the glucocerebrosidase gene of a patient with Gaucher disease creates a new Bgl I site

N. Tuteja, B. Bembi, F. Baralle, 1994, Human Genetics.

Deletion in the peripherin/RDS gene in two unrelated Sardinian families with autosomal dominant butterfly-shaped macular dystrophy.

M. Pirastu, A. Cao, C. Bertini, 1996, Archives of ophthalmology.

HOMOZYGOUS NON‐DELETION α2 GLOBIN GENE MUTATION (INITIATION CODON MUTATION): CLINICAL AND HAEMATOLOGICAL PHENOTYPE

M. Monne, A. Cao, R. Galanello, 1991, British journal of haematology.

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

A. Cao, R. Galanello, L. Perseu, 1994 .

Deletion delta-thalassemia: the 7.2 kb deletion of Corfu delta beta-thalassemia in a non-beta-thalassemia chromosome.

M. Monne, G. Loudianos, M. Pirastu, 1990, Blood.

Preconceptional identification of cystic fibrosis carriers in the Sardinian population: A pilot screening program.

A. Cao, Daniela Carta, M. Rosatelli, 2011, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

Abnormal mRNA splicing resulting from consensus sequence splicing mutations of ATP7B

M. Tzetis, E. Kanavakis, G. Loudianos, 2002, Human mutation.

Delta-thalassemia due to a mutation in an erythroid-specific binding protein sequence 3' to the delta-globin gene.

R. Casu, J. Lavinha, G. Loudianos, 1992, Blood.

&Thalassemia due to a Mutation in an Erythroid-Specific Binding Protein Sequence 3' to the &Globin Gene

R. Casu, G. Loudianos, M. Pirastu, 2003 .

Identification of a novel T-insertion polymorphism at the DMD locus

F. Muntoni, A. Cao, M. Congia, 1993, Human Genetics.

Haplotype and mutation analysis in Mediterranean patients with Wilson disease

A. Angius, G. Loudianos, V. Dessì, 1999 .

Delineation of the spectrum of Wilson disease mutations in the Greek population and the identification of six novel mutations.

M. Tzetis, E. Kanavakis, G. Loudianos, 2000, Genetic testing.

Wilson's disease in two consecutive generations: the detection of three mutated alleles in the ATP7B gene in two Sardinian families.

G. Loudianos, S. De Virgiliis, A. Cao, 2013, Digestive and Liver Disease.

Characterization of the molecular defect in the ATP7B gene in Wilson disease patients from Yugoslavia.

V. Kostic, G. Loudianos, V. Dessì, 2003, Genetic testing.

Efficient strategy for molecular diagnosis of Wilson disease in the sardinian population.

G. Loudianos, V. Dessì, M. Lovicu, 2003, Clinical chemistry.

Beta-thalassemia

A. Cao, R. Galanello, 2023, Genetics in Medicine.

A FOUNDER EFFECT FOR WILSONS-DISEASE IN SARDINIA DEFINED BY LINKAGE DISEQUILIBRIUM MAPPING

T. Gilliam, M. Devoto, A. Angius, 1993 .

Fetal nuchal translucency and prenatal diagnosis of β‐thalassaemia

A. Cao, M. Zoppi, R. M. Ibba, 1999 .

Molecular comparison of 86f-thalas persistence of fetal hemoglobin DN regulatory area? (deletion/repetitive sequences/y-globin genes/polymorphism)

R. Taramelli, A. Cao, R. Galanello, 2016 .

DIFFICULTIES IN ANTENATAL DIAGNOSIS OF INHERITED HAEMOGLOBINOPATHIES: γ‐CHAIN VARIANTS

A. Cao, A. M. Falchi, M. Furbetta, 1981 .

Reliability of prenatal diagnosis of genetic diseases by analysis of amplified trophoblast DNA.

G. Loudianos, A. Cao, G. Monni, 1990, Journal of Medical Genetics.

A new δ‐chain variant hemoglobin A2‐puglia or α2δ2 26 Glu→Asp (B8), detected by DNA analysis in a family of Southern Italian origin

G. Loudianos, M. Pirastu, A. Cao, 1993, Human Mutation.

PRENATAL DIAGNOSIS OF MOST COMMON MEDITERRANEAN β-THALASSAEMIA MUTANTS

M. Pirastu, A. Cao, I. Hansmann, 1986, The Lancet.

Beta-thalassemia mutations in the Portuguese population.

M. Pirastu, A. Cao, A. Loi, 1988, Human Genetics.

thalassaemia mutations in Turkish Cypriots

A. Cao, A. Berkalp, A. Sozuoz, 2004 .

thalassaemia mutations inTurkish Cypriots

A. Cao, Clinica Medica, A. Berkalp, 1988 .

The repeated sequence (AT)x(T)y upstream to the beta-globin gene is a simple polymorphism.

A. Cao, R. Galanello, L. Perseu, 1993, Blood.

A beta-thalassemia carrier with normal sequence within the beta-globin gene.

G. Loudianos, M. Pirastu, A. Cao, 1990, Blood.

Hemoglobin A2 in iron deficient beta-thalassemia heterozygotes.

A. Cao, R. Galanello, E. Paglietti, 1981, Hemoglobin.

Genetic mapping of autosomal dominant primary open-angle glaucoma (POAG) in Sardinia

M. Pirastu, A. Cao, G. Sole, 2004, International Ophthalmology.

Mutations in the vasopressin V2-receptor gene in three families of Italian descent with nephrogenic diabetes insipidus.

S. Loche, A. Cao, M. Bozzola, 1994, Human molecular genetics.

Delineation of the molecular basis of delta- and normal HbA2 beta-thalassemia.

P. Moi, M. Pirastu, A. Cao, 1988, Blood.

DNA polymorphisms at the BCL11A, HBS1L-MYB, and β-globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease

J. Hirschhorn, D. Schlessinger, S. Orkin, 2008, Proceedings of the National Academy of Sciences.

Osmotic fragility testinheterozygotes for and thalassaemia

A. Cao, L. Maccioni, 1985 .

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

A. Cao, R. Galanello, L. Perseu, 1999, European Journal of Pediatrics.

RNA analysis of consensus sequence splicing mutations: implications for the diagnosis of Wilson disease.

M. T. Pellecchia, P. Barone, G. Loudianos, 2009, Genetic testing and molecular biomarkers.