La mia storia…


Il Prof. Antonio Cao

Prof. Antonio Cao

nato a Cagliari, il 4 maggio 1929
morto a Cagliari, il 21 giugno 2012

Laureato in Medicina e Chirurgia nel 1954
presso l’Università di Cagliari, ha dedicato il suo impegno scientifico alla genetica e al­l’ematologia molecolare, contribuendo inci­sivamente alla lotta contro la talassemia.
Fu padre fondatore dell’Ospedale Microci­temico di Cagliari…


LE PUBBLICAZIONI DEL PROF. ANTONIO CAO


  1. Furbetta M., Rosi G., Cossu P., Cao A.
    A case of trisomy of the short arms of chromosome n° 4 with translocation t(4p 21p; 4q 21q) in the mother.
    Humangenetik. 26: 87-91, 1975.
  2. De Virgiliis S., Biagini W., Cao A.
    Isoenzymes of beta-N-acetyl-hexosaminidase in leukocytes.
    Minerva Pediatrica. 27: 719-20, 1975.
  3. Daniele S., Cianchetti C., Cao A.
    Progressive external ophthalmoplegia associated with retinal pigment epitheliopathy.
    American Journal of Ophthalmology. 80: 585-90, 1975.
  4. Furbetta M., Rosi G., Biagioni M., Cossu P., Cao A.
    A case of extra small acrocentric bisatellited chromosome in a non mongoloid child.
    Humangenetik. 30: 259-63, 1975.
  5. Cao A., De Virgiliis S., Biggio G., Gessa GL.
    Free serum tryptophan in Down’s syndrome.
    Rivista di Farmacologia e Terapia, VI: 313-7, 1975.
  6. Kan YW., Golbus MS., Trecartin RF., Furbetta M., Cao A.
    Prenatal diagnosis of homozygous *-thalassemia.
    Lancet, 2: 790-2, 1975.
  7. Galanello R., Angius A., Melis MA., Tuveri T., Cao A.
    Valutazione critica dello studio delle resistenze globulari osmotiche come metodo di screening del tratto *-thalassemico.
    Rivista Italiana di Pediatria, 2: 241-3, 1976.
  8. Pavone L., La Rosa M., Mollica F., Cao A.
    Distrofia miotonica congenita in due fratelli.
    Rivista Italiana di Pediatria, 2: 165-9, 1976.
  9. Cao A., Cainchetti C., Calisti L., Tangheroni W.
    A family of juvenile proximal spinal muscular atrophy with dominant inheritance.
    Journal of Medical Genetics. 13: 131-5, 1976.
  10. Cao A., Cianchetti C., Signorini E., Loi M., Sanna G., De Virgiliis S.
    Agenesis of the corpus callosum, infantile spasms, spastic quadriplegia, microcephaly and severe mental retardation in three siblings.
    Clinical Genetics. 12: 290-6, 1977.
  11. Galanello R., Melis MA., Muroni P., Cao A.
    Quantitation of Hb A2 with DE-52 microchromatography in whole blood as screening test for β-thalassemia heterozygotes.
    Acta Haematologica. 57: 32-6, 1977.
  12. Cao A., Melis MA., Galanello R.
    Fetal haemoglobin and malaria.
    Lancet. 1: 202, 1977.
  13. Kan YW., Golbus MS., Trecartin RF., Filly RA., Valenti C., Furbetta M., Cao A.
    Prenatal diagnosis of *-thalassemia and sickle-cell anemia: experience with 24 cases.
    Lancet, 1: 269-71, 1977
  14. Cao A., Galanello R., Furbetta M., Muroni PP., Garbato L., Rosatelli C., Scalas MT., Addis M., Ruggeri R., Maccioni L., Melis MA.
    Thalassaemia types and their incidence in Sardinia.
    Journal of Medical Genetics. 15: 443-7, 1978.
  15. Pavone L., Mollica F., Grasso A., Cao A., Gullotta F.
    Schwartz-Jampel syndrome in two daughters of first cousins.
    Journal of Neurology, Neurosurgery & Psychiatry. 41: 161-9, 1978.
  16. Cao A., Cianchetti C., Calisti L., De Virgiliis S., Ferreli A., Tangheroni W.
    Schwartz-Jampel syndrome. Clinical, electrophysiological and histopathological study of a severe variant.
    Journal of the Neurological Sciences. 35: 175-87, 1978.
  17. Furbetta M., Cossu P., Angius A., Congiu G., Ximenes A., Cao A.
    Early onset of homozygous βº-thalassaemia associated with neonatal jaundice.
    Archives of Disease in Childhood. 53: 250-2, 1978.
  18. Galanello R., Melis MA., Furbetta M., Angius A., Rosatelli C., Cao A.
    Hemoglobin H disease in Sardinia: phenotypic and genetic observations.
    Hemoglobin. 2: 333-49, 1978.
  19. Furbetta M., Angius A., Ximenes A., Fais R., Cao A., Valenti C., Fioretti P., Caminiti F., Angioni G., Nasi A.
    Prenatal diagnosis of β-thalassemia. Experience with 24 cases.
    Israel Journal of Medical Sciences. 14: 1107-10, 1978.
  20. Cianchetti C., Cao A., Mastropaolo C., Corda R.
    Subacute sclerosing panencephalitis in Sardinia.
    Lancet. 1: 829, 1979.
  21. Cossu P., Diana G., Mameli M., Cardia S., Milia A., Floris G., Cao A.
    A case of D13 ring chromosome.
    Human Genetics. 46: 111-4, 1979.
  22. Galanello R., Melis MA., Ruggeri R., Addis M., Scalas MT., Maccioni L., Furbetta M., Angius A., Tuveri T., Cao A.
    βº- thalassemia trait in Sardinia.
    Hemoglobin. 3: 33-46, 1979.
  23. Sanna G., De Virgiliis S., Palmas C., Argiolu F., Frau F., Cao A.
    Favism in GdMediterranean heterozygous females.
    Pediatric Research. 13: 812-6, 1979.
  24. De Virgiliis S., Argiolu F., Sanna G., Cornacchia G., Cossu P., Cao A., Mallardi V., Puxeddu P.
    Auditory involvement in thalassemia major.
    Acta Haematologica. 61: 209-15, 1979.
  25. Kan YW., Dozy AM., Stamatoyannopoulos G., Hadjiminas MG., Zachariades Z., Furbetta M., Cao A.
    Molecular basis of hemoglobin-H disease in the Mediterranean population.
    Blood. 54: 1434-8, 1979
  26. Furbetta M., Galanello R., Ximenes A., Angius A., Melis MA., Serra P., Cao A.
    Interaction of a and β-thalassaemia genes in two Sardinian families.
    British Journal of Haematology. 41: 203-10, 1979.
  27. Galanello R., Melis MA., Cao A.
    Metodi di screening per la diagnosi di * e *-talassemia.
    Rivista Italiana di Pediatria, 5: 485-8, 1979
  28. Galanello R., De Virgiliis S., Melis MA., Rosatelli C., Cao A.
    Aspetti clinici ed ematologici della malattia da emoglobina H in età pediatrica.
    Rivista Italiana di Pediatria, 5: 353-60, 1979.
  29. Sanna G., Frau F., Melis MA., Galanello R., De Virgiliis S., Cao A.
    Interaction between the glucose-6-phosphate dehydrogenase deficiency and thalassaemia genes at phenotype level.
    British Journal of Haematology. 44: 555-61, 1980.
  30. Galanello R., De Virgiliis S., Addis M., Paglietti E., Ruggeri R., Cao A.
    Haematological characteristics of the βº- thalassaemia trait in Sardinian children.
    Journal of Clinical Pathology. 33: 946-8, 1980.
  31. De Virgiliis S., Sanna G., Cornacchia G., Argiolu F., Murgia V., Porcu M., Cao A.
    Serum ferritin, liver iron stores, and liver histology in children with thalassaemia.
    Archives of Disease in Childhood. 55: 43-5, 1980.
  32. Galanello R., Diana G., Furbetta M., Angius A., Melis MA., Rosatelli C., Cao A.
    β-thalassaemia in Sardinian infants.
    Journal of Medical Genetics. 17: 357-62, 1980.
  33. Cao A., Furbetta M., Angius A., Ximenes A., Angioni G., Caminiti F.
    Prenatal diagnosis of β-thalassemia: experience with 133 cases and the effect of fetal blood sampling on child development.
    Annals of the New York Academy of Sciences. 344: 165-80, 1980.
  34. De Virgiliis S., Fiorelli G., Fargion S., Cornacchia G., Sanna G., Cossu P., Murgia V., Cao A.
    Chronic liver disease in transfusion-dependent thalassaemia: hepatitis B virus marker studies.
    Journal of Clinical Pathology. 33: 949-53, 1980.
  35. Kan YW., Lee KY., Furbetta M., Angius A., Cao A.
    Polymorphism of DNA sequence in the β-globin gene region. Application to prenatal diagnosis of βº-thalassemia in Sardinia.
    New England Journal of Medicine. 302: 185-8, 1980.
  36. Furbetta M., Angius A., Ximenes A., Tuveri T., Rosatelli C., Scalas MT., Fais R., Cao A., Angioni G., Caminiti F.
    Prenatal diagnosis of β-thalassaemia by fetal red cell enrichment with NH4-Cl-NH4HCO3 differential lysis of maternal cells.
    British Journal of Haematology. 44: 441-50, 1980.
  37. Melis MA., Rosatelli C., Falchi AM., Angius A., Furbetta M., Galanello R., Cao A.
    Hematological characteristics of sardinian a-thalassemia carriers detected in a population study.
    Acta Haematologica. 63: 32-6, 1980.
  38. Cao A., Furbetta M., Galanello R., Melis MA., Angius A., Ximenes A., Rosatelli C., Ruggeri R., Addis M., Tuveri T., Falchi AM., Paglietti E., Scalas MT.
    Prevention of homozygous β-thalassemia by carrier screening and prenatal diagnosis in Sardinia.
    American Journal of Human Genetics. 33: 592-605, 1981.
  39. Galanello R., Ruggeri R., Addis M., Paglietti E., Cao A.
    Hemoglobin A2 in iron deficient β-thalassemia heterozygotes.
    Hemoglobin. 5: 613-8, 1981.
  40. De Virgiliis S., Galanello R., Cao A.
    Plasmodium malariae transfusion malaria in splenectomized patients with thalassemia major.
    Journal of Pediatrics. 98: 584-5, 1981.
  41. Cao A., Furbetta M., Angius A., Ximenes A., Rosatelli C., Scalas MT., Tuveri T., Falchi AM., Angioni G., Caminiti F.
    Prenatal diagnosis of β-thalassemia major using fetal blood.
    Minerva Medica. 72: 637-46, 1981.
  42. De Virgiliis S., Cornacchia G., Sanna G., Argiolu F., Galanello R., Fiorelli G., Rais M., Cossu P., Bertolino F., Cao A.
    Chronic liver disease in transfusion-dependent thalassemia: liver iron quantitation and distribution.
    Acta Haematologica. 65: 32-9, 1981.
  43. Higgs DR., Pressley L., Aldridge B., Clegg JB., Weatherall DJ., Cao A., Hadjiminas MG., Kattamis C., Metaxatou-Mavromati A., Rachmilewitz EA., Sophocleous T.
    Genetic and molecular diversity in nondeletion Hb H disease.
    Proceedings of the National Academy of Sciences of the United States of America. 78: 5833-7, 1981.
  44. Furbetta M., Angius A., Ximenes A., Rosatelli C., Scalas MT., Tuveri T., Falchi AM., Cao A.
    Difficulties in antenatal diagnosis of inherited haemoglobinopathies: ?-chain variants.
    British Journal of Haematology. 47: 319-21, 1981.
  45. Furbetta M., Angius A., Tuveri T., Rosatelli C., Scalas MT., Ximenes A., Falchi AM., Cao A.
    Diagnosis of the βº-thalassemia trait at birth.
    Hemoglobin. 5:2 17-29, 1981.
  46. Cao A., Furbetta M., Ximenes A., Angius A., Rosatelli C., Tuveri T., Scalas MT., Falchi AM., Maccioni L., Melis MA., Galanello R.
    β-Thalassaemia types in southern Sardinia.
    Journal of Medical Genetics. 18:196-9, 1981.
  47. Gianni AM., Polli E., Giglioni B., Comi P., Ottolenghi S., Ferrari M., Furbetta M., Angius A., Cao A.
    Isoelectric focusing of globin chains for antenatal diagnosis of βº-thalassemia.
    Hemoglobin. 5: 349-56, 1981.
  48. Galanello R., Melis MA., Furbetta M., Angius A., Scalas MT., Paglietti E., Cao A.
    Globin chain synthesis analysis in obligate βº-thalassemia heterozygotes with isolated increase of hemoglobin A2 levels.
    Nouvelle Revue Francaise d Hematologie. 23(4):193-5, 1981.
  49. Furbetta M., Angius A., Falchi AM., Tuveri T., Tannoia N., Pertosa AP., Cao A.
    Prenatal diagnosis of thalassaemia major resulting from Lepore/ β-thalassaemia genotype.
    Journal of Medical Genetics. 18: 476-8, 1981.
  50. Cao A., Galanello R., Melis MA., Ruggeri R., Addis M., Maccioni L., Paglietti E.
    Our experience in screening and genetic counseling for β-thalassemia.
    Minerva Medica. 72: 623-8, 1981.
  51. Galanello R., Cossu P., Pirastu M., Cao A.
    Clinical presentation of thalassemia major due to homozygous βº-thalassemia.
    Nouvelle Revue Francaise d Hematologie. 23: 101-6, 1981.
  52. Sanna G., Frau F., De Virgiliis S., Piu P., Bertolino F., Cao A.
    Glucose-6-phosphate dehydrogenase red blood cell phenotype in GdMediterranean heterozygous females and hemizygous males at birth.
    Pediatric Research. 15: 1443-6, 1981.
  53. Cossu P., Toccafondi C., Vardeu F., Sanna G., Frau F., Lobrano R., Cornacchia G., Nucaro A., Bertolino F., Loi A., De Virgiliis S., Cao A.
    Iron overload and desferrioxamine chelation therapy in β-thalassemia intermedia.
    European Journal of Pediatrics. 137: 267-71, 1981.
  54. Trecartin RF., Liebhaber SA., Chang JC., Lee KY., Kan YW., Furbetta M., Angius A., Cao A.
    β-thalassemia in Sardinia is caused by a nonsense mutation.
    Journal of Clinical Investigation. 68:1012-7, 1981.
  55. Galanello R., Melis MA., Ruggeri R., Cao A.
    Prospective study of red blood cell indices, hemoglobin A2, and hemoglobin F in infants heterozygous for β-thalassemia.
    Journal of Pediatrics. 99: 105-8, 1981.
  56. Galanello R., Furbetta M., Melis MA., Rosatelli C., Cao A.
    Interaction of a- and dβº- thalassaemia: haematological features and globin chain synthesis analysis.
    Journal of Medical Genetics. 18: 40-2, 1981.
  57. De Virgiliis S., Argiolu F., Rais M., Cossu P., Toccafondi C., Sanna G., Cornacchia G., Nucaro A., Ferreli A., Cao A.
    Therapy of HBsAg-negative chronic active hepatitis in transfusion-dependent thalassemia major.
    Birth Defects: Original Article Series. 18: 355-60, 1982.
  58. Cao A., Furbetta M., Galanello R., Melis MA., Angius A., Rosatelli C., Ruggeri R., Addis M., Tuveri T., Falchi AM., Maccioni L., Paglietti E., Scalas MT.
    Control of homozygous β-thalassemia by carrier screening and antenatal diagnosis in Sardinia.
    Birth Defects: Original Article Series. 18: 303-11, 1982.
  59. Cao A., Furbetta M., Angius A., Ximenes A., Rosatelli C., Tuveri T., Scalas MT., Falchi AM., Angioni G., Caminiti F.
    Haematological and obstetric aspects of antenatal diagnosis of β-thalassaemia: experience with 200 cases.
    Journal of Medical Genetics. 19: 81-7, 1982.
  60. Cao A., Melis MA., Galanello R., Angius A., Furbetta M., Giordano P., Bernini LF.
    dβ(F)-thalassaemia in Sardinia.
    Journal of Medical Genetics. 19:184-92, 1982.
  61. Kanavakis E., Wainscoat JS., Wood WG., Weatherall DJ., Cao A., Furbetta M., Galanello R., Georgiou D., Sophocleous T.
    The interaction of a-thalassaemia with heterozygous β-thalassaemia.
    British Journal of Haematology. 52: 465-73, 1982.
  62. Ottolenghi S., Giglioni B., Taramelli R., Comi P., Mazza U., Saglio G., Camaschella C., Izzo P., Cao A., Galanello R., Gimferrer E., Baiget M., Gianni AM.
    Molecular comparison of dβ-thalassemia and hereditary persistence of fetal hemoglobin DNAs: evidence of a regulatory area?
    Proceedings of the National Academy of Sciences of the United States of America. 79: 2347-51, 1982.
  63. Cao A., Galanello R., Furbetta M.
    Thalassemia types in Southern Sardinia.
    Birth Defects: Original Article Series. 18: 157-64, 1982.
  64. Pirastu M., Lee KY., Dozy AM., Kan YW., Stamatoyannopoulos G., Hadjiminas MG., Zachariades Z., Angius A., Furbetta M., Rosatelli C., Cao A.
    β-thalassemia in two Mediterranean populations.
    Blood. 60: 509-12, 1982.
  65. Gatti R., Borrone C., Durand P., De Virgiliis S., Sanna G., Cao A., Von Figura K., Kresse H., Paschke E.
    Sanfilippo type D disease: clinical findings in two patients with a new variant of mucopolysaccharidosis III.
    European Journal of Pediatrics. 138: 168-71, 1982.
  66. De Virgiliis S., Cossu P., Sanna G., Frau F., Loi E., Lobrano R., Nucaro A., Toccafondi C., Cornacchia G., Loi A., Cao A.
    Iron chelation in transfusion-dependent thalassemia with chronic hepatitis.
    Acta Haematologica. 67: 49-56, 1982.
  67. De Virgiliis S., Cossu P., Toccafondi C., Sanna G., Frau F., Lobrano R., Cornacchia G., Nucaro A., Loi A., Bertolino F., Cao A.
    Effect of subcutaneous desferrioxamine on iron balance in young thalassemia major patients.
    American Journal of Pediatric Hematology-Oncology. 5:73-7, 1983.
  68. Melis MA., Galanello R., Cao A.
    a-globin gene analysis in a Sardinian family with interacting a and β-thalassaemia genes.
    British Journal of Haematology. 53: 667-71, 1983.
  69. Pirastu M., Kan YW., Cao A., Conner BJ., Teplitz RL., Wallace RB.
    Prenatal diagnosis of β-thalassemia. Detection of a single nucleotide mutation in DNA.
    New England Journal of Medicine. 309: 284-7, 1983.
  70. Galanello R., Ruggeri R., Paglietti E., Addis M., Melis MA., Cao A.
    A family with segregating triplicated a-globin loci and β-thalassemia.
    Blood. 62: 1035-40, 1983.
  71. Wainscoat JS., Higgs DR., Kanavakis E., Cao A., Georgiou D., Clegg JB., Weatherall DJ.
    Association of two DNA polymorphisms in the a-globin gene cluster: implications for genetic analysis.
    American Journal of Human Genetics. 35: 1086-9, 1983.
  72. Galanello R., Paglietti E., Giagu L., Melis MA., Scalas MT., Cao A.
    Phenotypic manifestations of heterozygous non-deletion a-thalassaemia (alpha alpha/(aa)th) in Sardinians.
    British Journal of Haematology. 55: 711-3, 1983.
  73. Cianchetti C., Marrosu MG., Manconi PE., Loi M., Cao A.
    Subacute sclerosing panencephalitis in only one of identical twins. Case report with study of cell-mediated immunity.
    European Neurology. 22: 428-32, 1983.
  74. De Virgiliis S., Argiolu F., Rais M., Cossu P., Toccafondi C., Sanna G., Cornacchia G., Nucaro A., Bertolino F., Ferreli A., Cao A.
    Methyl-prednisolone treatment of serum HBsAg negative chronic active hepatitis occurring in transfusion-dependent thalassemia major.
    Helvetica Paediatrica Acta, 38: 255-65, 1983.
  75. Galanello R., Melis MA., Paglietti E., Cornacchia G., De Virgiliis S., Cao A.
    Serum ferritin levels in hemoglobin H disease.
    Acta Haematologica. 69: 56-8, 1983.
  76. Melis MA., Pirastu M., Galanello R., Furbetta M., Tuveri T., Cao A.
    Phenotypic effect of heterozygous a and βº-thalassemia interaction.
    Blood. 62: 226-9, 1983.
  77. Pirastu M., Galanello R., Melis MA., Brancati C., Tagarelli A., Cao A., Kan YW.
    d+-thalassemia in Sardinia.
    Blood. 62: 341-5, 1983
  78. Galanello R., Pirastu M., Melis MA., Paglietti E., Moi P., Cao A.
    Phenotype-genotype correlation in haemoglobin H disease in childhood.
    Journal of Medical Genetics. 20: 425-9, 1983.
  79. Furbetta M., Tuveri T., Rosatelli C., Angius A., Falchi AM., Cossu P., Meloni A., Giagu N., Cao A.
    Molecular mechanism accounting for milder types of thalassemia major.
    Journal of Pediatrics. 103: 35-9, 1983.
  80. Wainscoat JS., Bell JI., Old JM., Weatherall DJ., Furbetta M., Galanello R., Cao A.
    Globin gene mapping studies in Sardinian patients homozygous for βº-tThalassaemia.
    Molecular Biology & Medicine. 1: 1-10, 1983.
  81. De Virgiliis S., Dessi S., Melis R., Cao A.
    Fatal Yersinia enterocolitica meningitis in thalassemia major.
    Bollettino dell Istituto Sieroterapico Milanese. 63:171-2, 1984.
  82. Pirastu M., Kan YW., Galanello R., Cao A.
    Multiple mutations produce dβº thalassemia in Sardinia.
    Science. 223: 929-30, 1984.
  83. Galanello R., Melis MA., Maccioni L., Pirastu M., Cao A.
    Longitudinal study of a newborn with combination of deletion and nondeletion a-thalassemia-2.
    Pediatric Research. 182: 158-62, 1984.
  84. Galanello R., Maccioni L., Rosatelli MC., Ibba P., Nurchi AM., Cao A.
    A genetic combination of silent β-thalassaemia, high Hb A2 β-thalassaemia, and single a-globin gene deletion causing mild thalassaemia intermedia.
    Journal of Medical Genetics. 21: 153-6, 1984.
  85. Figus A., Blum HE., Vyas GN., De Virgiliis S., Cao A., Lippi M., Lai E., Balestrieri A.
    Hepatitis B viral nucleotide sequences in non-A, non-B or hepatitis B virus-related chronic liver disease.
    Hepatology. 4: 364-8, 1984.
  86. Rosatelli C., Falchi AM., Scalas MT., Tuveri T., Cao A.
    Developmental pattern of β-chain production at midtrimester pregnancy in Sardinian βº-thalassemia heterozygotes.
    Hemoglobin. 8: 17-24, 1984.
  87. Cao A., Pintus L., Lecca U., Olla G., Cossu P., Rosatelli C., Galanello R.
    Control of homozygous β-thalassemia by carrier screening and antenatal diagnosis in Sardinians.
    Clinical Genetics. 26: 12-22, 1984.
  88. Rosatelli C., Falchi AM., Scalas MT., Tuveri T., Furbetta M., Cao A.
    Hematological phenotype of the double heterozygous state for a and β-thalassemia.
    Hemoglobin. 8: 25-35, 1984.
  89. Galanello R., Maccioni L., Ruggeri R., Perseu L., Cao A.
    a-thalassaemia in Sardinian newborns.
    British Journal of Haematology. 58: 361-8, 1984.
  90. Pirastu M., Saglio G., Chang JC., Cao A., Kan YW.
    Initiation codon mutation as a cause of a-thalassemia.
    Journal of Biological Chemistry. 259: 12315-7, 1984.
  91. Maccioni L., Galanello R., Melis MA., Cao A.
    Hemoglobin constitution of double heterozygotes for a or β-thalassemia and Hb J Sardegna.
    Hemoglobin. 8: 497-507, 1984.
  92. Galanello R., Paglietti E., Melis MA., Giagu L., Cao A.
    Hemoglobin inclusions in heterozygous a-thalassemia according to their a-globin genotype.
    Acta Haematologica. 72: 34-6, 1984.
  93. De Virgiliis S., Vardeu F., Bertolino F., Muroni P., Cornacchia G., Nucaro A., Cao A.
    Infezione da virus epatite B nel personale di assistenza di un complesso pediatrico.
    Rivista Italiana Di Pediatria, 10: 121-6, 1984.
  94. Rosatelli C., Falchi AM., Tuveri T., Scalas MT., Di Tucci A., Monni G., Cao A.
    Prenatal diagnosis of β-thalassaemia with the synthetic-oligomer technique.
    Lancet. 1: 241-3, 1985.
  95. Paglietti E., Galanello R., Addis M., Cao A.
    Genetic counseling and genetic heterogeneity in the thalassemias.
    Clinical Genetics. 28: 1-7, 1985.
  96. Maccioni L., Cao A.
    Osmotic fragility test in heterozygotes for a and β-thalassaemia.
    Journal of Medical Genetics. 22: 374-6, 1985.
  97. Galanello R., Paglietti E., Giagu N., Melis MA., Scalas MT., Cao A.
    Hematological phenotype of carriers of deletion a-thalassemia according to the a-globin genotype.
    Haematologica. 70: 191-8, 1985
  98. De Virgiliis S., Frau F., Sanna G., Turco MP., Figus AL., Cornacchia G., Cao A.
    Perinatal hepatitis B virus detection by hepatitis B virus-DNA analysis.
    Archives of Disease in Childhood. 60: 56-8, 1985
  99. Cao A., Cossu P., Falchi AM., Monni G., Pirastu M., Rosatelli C., Scalas MT., Tuveri T.
    Antenatal diagnosis of thalassemia major in Sardinia.
    Annals of the New York Academy of Sciences. 445: 380-92, 1985.
  100. Cao A., Falchi AM., Tuveri T., Scalas MT., Monni G., Rosatelli C.
    Prenatal diagnosis of thalassemia major by fetal blood analysis: experience with 1000 cases.
    Prenatal Diagnosis. 6: 159-67, 1986.
  101. Cao A., Rosatelli C., Pirastu M.
    Prenatal diagnosis of inherited hemoglobinopathies.
    Journal de Genetique Humaine. 34: 413-24, 1986.
  102. Arbane M., Morle L., Dessi E., Rouyer-Fessard P., Morle F., Feingold J., Cao A., Beuzard Y.
    Genetic control of the proportion of ?-chains of human fetal haemoglobin.
    Nouvelle Revue Francaise d Hematologie. 28: 235-42, 1986.
  103. De Virgiliis S., Frau F., Sanna G., Cornacchia G., Turco MP., Argiolu F., Cao A.
    Iron elimination following intravenous desferrioxamine infusion in patients with thalassemia major.
    [letter] European Pediatric, Hematology/Oncology 2: 47-8, 1986
  104. Brega A., Scozzari R., Maccioni L., Iodice C., Wallace DC., Bianco I., Cao A., Santachiara, Benerecetti AS.
    Mitochondrial DNA polymorphisms in Italy. I., Population data from Sardinia and Rome.
    Annals of Human Genetics. 50: 327-38, 1986.
  105. Loi A., Pirastu M., Cao A., Ulbridh R., Hansmann I.
    Prenatal diagnosis of most common Mediterranean β-thalassaemia mutants.
    Lancet. 1: 274, 1986.
  106. Sanna MA., Bell GI., Cao A.
    Pirastu M., Three RFLPs for the insulin receptor gene INSR: EcoRI, Pst I, Hind III.
    Nucleic Acids Research. 14: 6776, 1986.
  107. Paglietti E., Galanello R., Moi P., Pirastu M., Cao A.
    Molecular pathology of haemoglobin H disease in Sardinians.
    British Journal of Haematology. 63: 485-96, 1986.
  108. Monni G., Rosatelli C., Falchi AM., Scalas MT., Addis M., Maccioni L., Di Tucci A., Tuveri T., Cao A.
    First trimester diagnosis of β-thalassaemia in a twin pregnancy.
    Prenatal Diagnosis. 6: 63-8, 1986.
  109. Cao A., Pirastu M., Rosatelli C.
    The prenatal diagnosis of thalassaemia.
    British Journal of Haematology. 63: 215-20, 1986.
  110. Rosatelli C., Maccioni L., Scalas MT., Cao A.
    Pitfalls in prenatal diagnosis of β-thalassaemia.
    Journal of Medical Genetics. 23: 456-8, 1986.
  111. Maccioni L., Galanello R., Ruggeri R., Puddu R., Rosatelli D., Marras A., Chiappe S., Macciotta A., Cao A.
    a-thalassemia in premature newborns.
    Pediatric Research. 20: 1077-81, 1986.
  112. Falchi AM., Orofino MG., Nucaro AL., De Virgiliis S., Cao A.
    Acute lymphoblastic leukemia in a child with constitutional ring chromosome 21.
    Cancer Genetics & Cytogenetics. 27: 219-24, 1987.
  113. Monni G., Ibba RM., Olla G., Rosatelli C., Cao A.
    Chorionic villus sampling by rigid forceps: experience with 300 cases at risk for thalassemia major.
    American Journal of Obstetrics & Gynecology. 156: 912-4, 1987.
  114. Cao A.
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    Blood Reviews. 1: 169-76, 1987.
  115. Rosatelli C., Leoni GB., Tuveri T., Scalas MT., Di Tucci A., Cao A.
    β-thalassaemia mutations in Sardinians: implications for prenatal diagnosis.
    Journal of Medical Genetics. 24: 97-100, 1987.
  116. Cao A., Cossu P., Monni G., Rosatelli MC.
    Chorionic villus sampling and acceptance rate of prenatal diagnosis.
    Prenatal Diagnosis. 7: 531-3, 1987.
  117. Akar N., Cavdar AO., Dessi E., Loi A., Pirastu M., Cao A.
    β-thalassaemia mutations in the Turkish population.
    Journal of Medical Genetics. 24: 378-9, 1987.
  118. Oggiano L., Pirastu M., Moi P., Longinotti M., Perseu L., Cao A.
    Molecular characterization of a normal Hb A2 *-thalassaemia determinant in a Sardinian family.
    British Journal Of Haematology, 67: 225-9, 1987
  119. Pirastu M., Galanello R., Doherty MA., Tuveri T., Cao A., Kan YW.
    The same *-globin gene mutation is present on nine different *-thalassemia chromosomes in a Sardinian population.
    Proceedings of the National Academy of Sciences of the United States of America, 84: 2882-5, 1987
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    Results of programmes for antenatal detection of thalassemia in reducing the incidence of the disorder.
    Blood Reviews. 1: 169-76, 1987
  121. Moi P., Cash FE., Liebhaber SA., Cao A., Pirastu M.
    An initiation codon mutation (AUG*GUG) of the human *1-globin gene. Structural characterization and evidence for a mild thalassemic phenotype.
    Journal of Clinical Investigation, 80 (5) 1416-21, 1987.
  122. Cao A., Pirastu M., Ristaldi MS., Leoni GB., Monni G., Rosatelli MC.
    Prenatal diagnosis of β-thalassemia in Italian population.
    Haematologica. 73:331-41, 1988.
  123. Cao A., Rosatelli C.
    Control of β-thalassemia in Sardinia.
    Birth Defects: Original Article Series. 23(5B): 395-404, 1988.
  124. Cao A.
    Diagnosis of β-thalassemia intermedia at presentation.
    Birth Defects: Original Article Series. 23(5B): 219-26, 1988.
  125. Oggiano L., Dore F., Pistidda P., Guiso L., Manca L., Masala B., Pirastu M., Rosatelli C., Cao A.
    Longinotti M., Homozygous βº-39 mutation with thalassemia intermedia in northern Sardinia: clinical, hematological and molecular analysis.
    Hemoglobin. 12: 673-80, 1988.
  126. Manconi PE., Dessi C., Sanna G., Argiolu F., Pellegrini-Bettoli P., Piro R., Masotti O., Cao A.
    Human immunodeficiency virus infection in multi-transfused patients with thalassaemia major.
    European Journal of Pediatrics. 147: 304-7, 1988.
  127. Pirastu M., Saglio G., Camaschella C., Loi A., Serra A., Bertero T., Gabutti W., Cao A.
    Delineation of specific β-thalassemia mutations in high-risk areas of Italy: a prerequisite for prenatal diagnosis.
    Blood. 71: 983-8, 1988.
  128. Moi P., Paglietti E., Sanna A., Brancati C., Tagarelli A., Galanello R., Cao A., Pirastu M.
    Delineation of the molecular basis of d- and normal HbA2 β-thalassemia.
    Blood. 72: 530-3, 1988.
  129. Gomes MP., Da Costa MG., Braga LB., Cordeiro-Ferreira NT., Loi A., Pirastu M., Cao A.
    β-thalassemia mutations in the Portuguese population.
    Human Genetics. 78: 13-5, 1988.
  130. Monni G., Ibba RM., Olla G., Rosatelli C., Cao A.
    Prenatal diagnosis of β-thalassaemia by second-trimester chorionic villus sampling.
    Prenatal Diagnosis. 8: 447-51, 1988.
  131. Rosatelli C., Schettini F., Monni G., Tuveri T., Scalas MT., Di Tucci A., Leoni GB., Cao A.
    Problems in prenatal diagnosis of β-thalassaemia by fetal blood analysis: β-chain variant comigrating with ?-chains.
    Prenatal Diagnosis. 8: 393-7, 1988.
  132. De Virgiliis S., Congia M., Turco MP., Frau F., Dessi C., Argiolu F., Sorcinelli R., Sitzia A., Cao A.
    Depletion of trace elements and acute ocular toxicity induced by desferrioxamine in patients with thalassaemia.
    Archives of Disease in Childhood. 63: 250-5, 1988.
  133. Galanello R., Paglietti ME., Addis M., Melis MA., Tuveri T., Furbetta M., Cao A.
    Pitfalls in genetic counselling for β-thalassemia: an individual with 4 different thalassemia mutations.
    Clinical Genetics. 33: 151-5, 1988.
  134. Monni G., Olla G., Cao A.
    Patient’s choice between transcervical and transabdominal chorionic villus sampling.
    Lancet. 1: 1057, 1988.
  135. Rosatelli MC., Tuveri T., Scalas MT., Di Tucci A., Leoni GB., Furbetta M., Monni G., Cao A.
    Prenatal diagnosis of β-thalassaemia by oligonucleotide analysis in Mediterranean populations.
    Journal of Medical Genetics. 25: 762-5, 1988.
  136. Sozuoz A., Berkalp A., Figus A., Loi A., Pirastu M., Cao A.
    β-thalassaemia mutations in Turkish Cypriots.
    Journal of Medical Genetics. 25: 766-8, 1988.
  137. Galanello R., Paglietti E., Melis MA., Crobu MG., Addis M., Moi P., Cao A.
    Interaction of heterozygous βº-thalassemia with single functional a-globin gene.
    American Journal of Hematology. 29: 63-6, 1988.
  138. Nucaro A., Falchi AM., Monni G., Cao A.
    Pseudomosaic centric fission of chromosome 4 in amniotic cells.
    Prenatal Diagnosis. 8: 629-31, 1988.
  139. Cao A., Rosatelli C., Galanello R., Ristaldi MS.
    Prenatal diagnosis of inherited hemoglobinopathies.
    Indian Journal of Pediatrics. 56: 707-17, 1989.
  140. Cao A., Murru S.
    Molecular pathology and detection of β-thalassemias.
    Progress in Clinical & Biological Research. 309:3-11, 1989.
  141. Galanello R., Podda A., Melis MA., Monne M., Cao A.
    Interaction between deletion d-thalassemia and βº-thalassemia (codon 39 nonsense mutation) in a Sardinian family.
    Progress in Clinical & Biological Research. 316B:113-21, 1989.
  142. Galanello R., Barella S., Maccioni L., Paglietti E., Melis MA., Rosatelli MC., Argiolu F., Cao A.
    Erythropoiesis following bone marrow transplantation from donors heterozygous for β-thalassaemia.
    British Journal of Haematology. 72: 561-6, 1989.
  143. Old JM., Thein SL., Weatherall DJ., Cao A., Loukopoulos D.
    Prenatal diagnosis of the major haemoglobin disorders.
    Molecular Biology & Medicine. 6: 55-63, 1989.
  144. Perseu L., Ristaldi MS., Dibenedetto SP., Testa R., Schiliro G., Pirastu M., Cao A.
    The effect of the β-thalassemia mutation on the clinical severity of the sickle β-thalassemia syndrome.
    Haematologica. 74: 341-5, 1989.
  145. Pirastu M., Ristaldi MS., Cao A.
    Prenatal diagnosis of beta thalassaemia based on restriction endonuclease analysis of amplified fetal DNA.
    Journal of Medical Genetics. 26: 363-7, 1989.
  146. Cao A., Gossens M., Pirastu M.
    β-thalassaemia mutations in Mediterranean populations.
    British Journal of Haematology. 71: 309-12, 1989.
  147. Cao A., Rosatelli C., Galanello R., Monni G., Olla G., Cossu P., Ristaldi MS.
    The prevention of thalassemia in Sardinia.
    Clinical Genetics. 36: 277-85, 1989.
  148. Cao A., Pirastu M., Rosatelli C.
    Prenatal diagnosis of hereditary hemoglobinopathies.
    Haematologica. 74: 213-22, 1989.
  149. Ristaldi MS., Pirastu M., Rosatelli C., Monni G., Erlich H., Saiki R., Cao A.
    Prenatal diagnosis of β-thalassaemia in Mediterranean populations by dot blot analysis with DNA amplification and allele specific oligonucleotide probes.
    Prenatal Diagnosis. 9: 629-38, 1989.
  150. De Virgiliis S., Corrias A., Ideo A., Nurchi AM., Piras G., Frau F., Sanna G., Cao A.
    Presentazione clinicas e follow-up del morbo di Wilson in età pediatrica.
    Rivista Italiana di Pediatria, 15: 462-6, 1989.
  151. Galanello R., Dessi E., Melis MA., Addis M., Sanna MA., Rosatelli C., Argiolu F., Giagu N., Turco MP., Cacace E., Pirastu M., Cao A.
    Molecular aanalysis of **-thalassemia intermedia in Sardinia.
    Blood, 74: 823-7, 1989.
  152. Rosatelli M., Oggiano L., Leoni GB., Tuveri T., Di Tucci A., Scalas MT., Dore F., Pistidda P., Massa A., Longinotti M., Cao A.
    Thalassemia intermedia resulting from a mild *-thalassemia mutation.
    Blood, 73: 601-5, 1989.
  153. Argiolu F., Diana G., Arnone M., Batzella MG., Piras P., Cao A.
    High-dose intravenous immunoglobulin in the management of autoimmune hemolytic anemia complicating thalassemia major.
    Acta Haematologica. 83: 65-8, 1990.
  154. Cao A., Rosatelli MC., Leoni GB., Tuveri T., Scalas MT., Monni G., Olla G., Galanello R.
    Antenatal diagnosis of β-thalassemia in Sardinia.
    Annals of the New York Academy of Sciences. 612: 215-25, 1990.
  155. Pirastu M., Ristaldi MS., Loudianos G., Murru S., Sciarratta GV., Parodi MI., Leone D., Agosti S., Cao A.
    Molecular analysis of atypical β-thalassemia heterozygotes.
    Annals of the New York Academy of Sciences. 612: 90-7, 1990.
  156. Rosatelli MC., Sardu R., Tuveri T., Scalas MT., Di Tucci A., De Murtas M., Loudianos G., Monni G., Cao A.
    Reliability of prenatal diagnosis of genetic diseases by analysis of amplified trophoblast DNA.
    Journal of Medical Genetics. 27: 249-51, 1990.
  157. Galanello R., Melis MA., Podda A., Monne M., Perseu L., Loudianos G., Cao A., Pirastu M., Piga A.
    Deletion d-thalassemia: the 7.2 kb deletion of Corfu -thalassemia in a non- -thalassemia chromosome.
    Blood. 75: 1747-9, 1990.
  158. Loudianos G., Cao A., Ristaldi MS., Pirastu M., Tzeti M., Kannavakis E., Kattamis C.
    Molecular basis of dβ-thalassemia with normal fetal hemoglobin level.
    Blood. 75: 526-8, 1990.
  159. Monni G., Olla G., Rosatelli C., Cao A.
    Second-trimester placental biopsy versus amniocentesis for prenatal diagnosis of β-thalassemia.
    New England Journal of Medicine. 322: 60-1, 1990.
  160. Galanello R., Turco MP., Barella S., Giagu N., Dessi C., Cornacchia G., Cao A.
    Iron stores and iron deficiency anemia in children heterozygous for β-thalassemia.
    Haematologica. 75: 319-22, 1990.
  161. Mosca A., Paderi M., Sanna A., Paleari R., Cao A., Galanello R.
    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.
    Haematologica. 75: 397-9, 1990.
  162. Ristaldi MS., Pirastu M., Murru S., Casula L., Loudianos G., Cao A., Sciarratta GV., Agosti S., Parodi MI., Leone D.
    A spontaneous mutation produced a novel elongated β-globin chain structural variant (Hb Agnana) with a thalassemia-like phenotype.
    Blood. 75: 1378-9, 1990.
  163. Murru S., Casula L., Pecorara M., Mori P., Cao A., Pirastu M.
    Illegitimate recombination produced a duplication within the FVIII gene in a patient with mild hemophilia A.
    Genomics. 7: 115-8, 1990.
  164. Galanello R., Sanna MA., Maccioni L., Gasperini D., Melis MA., Rosatelli C., Monni G., Cao A.
    Fetal hydrops in Sardinia: implications for genetic counselling.
    Clinical Genetics. 38: 327-31, 1990.
  165. Murru S., Loudianos G., Cao A., Vaccargiu S., Pirastu M., Sciarratta GV., Agosti S., Parodi MI.
    A β-thalassemia carrier with normal sequence within the β-globin gene.
    Blood. 76: 2164-5, 1990.
  166. Leoni GB., Rosatelli C., Sardu R., Scarpa G., Silvetti M., Cao A.
    Molecular bases for cystic fibrosis in the Sardinian population.
    Human Genetics. 85: 415, 1990.
  167. Cao A., Pirastu M., Rosatelli C.
    Prenatal diagnosis of inherited hemoglobinopathies.
    Haematologica. 75 Suppl 5:169-77, 1990.
  168. Casula L., Murru S., Pecorara M., Ristaldi MS., Restagno G., Mancuso G., Morfini M., De Biasi R., Baudo F., Carbonara A., Mori PG., Cao A., Pirastu M.
    Recurrent mutations and three novel rearrangements in the factor VIII gene of Hemophilia A patients of Italian descent.
    Blood, 75: 662-70, 1990
  169. Cao A., Gasperini R., Podda A., Galanello R.
    Molecular pathology of thalassemia intermedia.
    European Journal of Internal Medicine, 1: 227-36, 1990.
  170. Coetzer T., Palek J., Lawler J., Liu S-C., Jarolim P., Lahav M., Prchal JT., Wang W., Alter BP., Schewitz G., Mankad V., Galanello R., Cao A.
    Structural and functional heterogeneity of * spectrin mutations involving the spectrin heterodimer self-association site: relationships to hematologic expression of homozygous hereditary elliptocytosis and hereditary pyropoikilocytosis.
    Blood, 75: 2235-44, 1990
  171. Ristaldi MS., Murru S., Loudianos G., Casula L., Porcu S., Pigheddu D., Fanni B., Sciarratta GV., Agosti S., Parodi MI., Leone D., Camaschella C., Serra A, Pirastu M., Cao A.
    The C*T substitution in the distal CACCC box of the *-globin gene promoter is a common cause of silent *-thalassemia in the Italian population.
    British Journal of Haematology, 74: 480-6, 1990.
  172. Virgiliis S., Pisu C., Congia M., Podda R., Cornacchia G., Frau F., Sanna G., Argiolu F., Cao A.
    Transfusional hepatitis B control in thalassemia major.
    Progress in Hepatitis B Immunization, 194: 157-63, 1990.
  173. Cao A., Rosatelli C., Pirastu M., Galanello R.
    Thalassemias in Sardinia: molecular pathology, phenotype-genotype correlation, and prevention.
    American Journal of Pediatric Hematology-Oncology. 13:179-88, 1991.
  174. Galanello R., Monne MI., Paderi L., Paglietti E., Atzori G., Addis M., Limongelli O., Macciotta A., Cao A.
    Homozygous non-deletion 2 globin gene mutation (initiation codon mutation): clinical and haematological phenotype.
    British Journal of Haematology. 79:117-9, 1991.
  175. Aiuti F., Baroni C., Cao A., Fantoni A.
    Academic promotion in Italy.
    Lancet. 338: 1337, 1991.
  176. Loudianos G., Cao A., Pirastu M., Vassilopoulos G., Kollia P., Loukopoulos D.
    Molecular basis of the -thalassemia in cis to hemoglobin Knossos variant.
    Blood. 77: 2087-8, 1991
  177. Argiolu F., Diana G., Avignone A., Cao A., Di Ninni S.
    Hearing impairment during deferoxamine therapy for thalassemia major.
    Journal of Pediatrics. 118: 826-7, 1991.
  178. Murru S., Loudianos G., Deiana M., Camaschella C., Sciarratta GV., Agosti S., Parodi MI., Cerruti P., Cao A., Pirastu M.
    Molecular characterization of β-thalassemia intermedia in patients of Italian descent and identification of three novel β-thalassemia mutations.
    Blood. 77: 1342-7, 1991.
  179. Monni G., Ibba MR., Lai R., Olla G., Cao A.
    Limb-reduction defects and chorion villus sampling.
    [letter] Lancet, 337: 1091, 1991
  180. Murru S., De Bellis G., Casula L., Casu R., Masala B., Pirastu M., Cao A., Luzzana M.
    Identification of point mutations by direct sequencing of amplified DNA and Automation of the method.
    Italian Journal of Biochemistry, 40: 145-7, 1991
  181. Leoni GB., Rosatelli C., Vitucci A., Addis M., Loi A., Tannoia N., Cao A.
    Molecular basis of β-thalassemia intermedia in a southern Italian region (Puglia).
    Acta Haematologica. 86: 174-8, 1991.
  182. Monni G., Useli C., Ibba RM., Lai R., Olla G., Cao A.
    Early antenatal sonographic diagnosis of conjoined syncephalus-craniothoraco-omphalopagus twins. Case report.
    Journal of Perinatal Medicine. 19: 489-92, 1991.
  183. Galanello R., Lilliu F., Bertolino F., Cao A.
    Percentile curves for red cell indices of βº-thalassaemia heterozygotes in infancy and childhood.
    European Journal of Pediatrics. 150: 413-5, 1991.
  184. Vivarelli R., Bartalini G., Calistri L., Balestri P., Figus A., Pirastu M., Cao A., Fois A.
    Molecular study in von Recklinghausen neurofibromatosis (NF1).
    Childs Nervous System. 7: 98-9, 1991.
  185. Cao A.
    β-thalassemia: molecular bases, physiopathology, prevention and treatment.
    Minerva Pediatrica. 43: 745-51, 1991.
  186. Podda A., Galanello R., Maccioni L., Melis MA., Rosatelli C., Perseu L., Cao A.
    Hemoglobin Cagliari (β 60 [E4] Val Glu): a novel unstable thalassemic hemoglobinopathy.
    Blood. 77: 371-5, 1991.
  187. Muntoni F., Murru MR., Costa G., Congia M., Cucca F., Cossu P., Cao A., Dessalvi L., Pirastu M., Marrosu MG.
    Different HLA DR2-DQw1 haplotypes in Sardinian and northern Italian populations: implications for multiple sclerosis susceptibility.
    Tissue Antigens. 38: 34-6, 1991.
  188. Cao A., Rosatelli MC., Galanello R.
    Population-based genetic screening.
    Current Opinion in Genetics & Development. 1: 48-53, 1991.
  189. Loudianos G., Murru S., Kanavakis E., Metaxotou-Mavromati A., Theodoropoulou D., Kattamis C., Cao A., Pirastu M.
    A new - chain variant hemoglobin A2-Corfu or 2 2 116 Arg Cys (G18), detected by -globin gene analysis in a Greek family.
    Human Genetics. 87: 237-8, 1991.
  190. Gasperini D., Galanello R., Melis MA., Iannelli S., Giordano P., Bernini LF., Cao A.
    Hemoglobin Sabine [β 91 (F7) Leu Pro]: occurrence in a Sardinian individual with hemolytic anemia and inclusion bodies.
    Haematologica. 77: 381-3, 1992.
  191. Monni G., Ibba RM., Lai R., Giuseppina C., Silvia M., Olla G., Cao A.
    Transabdominal chorionic villus sampling: fetal loss rate in relation to maternal and gestational age.
    Prenatal Diagnosis. 12: 815-20, 1992.
  192. Faa V., Rosatelli MC., Sardu R., Meloni A., Toffoli C., Cao A.
    A simple electrophoretic procedure for fetal diagnosis of β-thalassaemia due to short deletions.
    Prenatal Diagnosis. 12: 903-8, 1992.
  193. Romao L., Cash F., Weiss I., Liebhaber S., Pirastu M., Galanello R., Loi A., Paglietti E., Ioannou P., Cao A.
    Human -globin gene expression is silenced by terminal truncation of chromosome 16p beginning immediately 3’ of the ?-globin gene.
    Human Genetics. 89: 323-8, 1992.
  194. Muntoni F., Congia M., Cucca F., Cossu P., Porcu S., Frau F., Arnone M., Songini M., Muntoni S., Cao A.
    The HLA DQB1*0502 allele is neutrally associated with insulin-dependent diabetes mellitus in the Sardinian population.
    Tissue Antigens. 39: 262-5, 1992.
  195. Rosatelli MC., Altay C., Oner R., Leoni GB., Moi B., Atzori G., Cao A.
    β-globin haplotype and XmnI polymorphism at position G -158 and HbF production in Fanconi’s anemia.
    Haematologica. 77:106-9, 1992.
  196. Aiuti F., Baroni C., Cao A., Fantoni A.
    Italian promotions attacked.
    Nature. 356:188, 1992.
  197. Murru S., Loudianos G., Porcu S., Sciarratta GV., Agosti S., Parodi MI., Cao A., Pirastu M.
    A β-thalassaemia phenotype not linked to the β-globin cluster in an Italian family.
    British Journal of Haematology. 81: 283-7, 1992.
  198. Loudianos G., Cao A., Pirastu M.
    Feasibility of prenatal diagnosis of β-thalassemia using two highly polymorphic microsatellites 5’ to the β-globin gene.
    Haematologica. 77: 361-2, 1992.
  199. Cossu P., Pirastu M., Nucaro A., Figus A., Balestrieri A., Borrone C., Giacchino R., Devoto M., Monni G., Cao A.
    Prenatal diagnosis of Wilson’s disease by analysis of DNA polymorphism.
    New England Journal of Medicine. 327: 57, 1992.
  200. Muntoni F., Mateddu A., Marrosu MG., Cau M., Congiu R., Melis MA., Cao A., Cianchetti C.
    Variable dystrophin expression in different muscles of a Duchenne muscular dystrophy carrier.
    Clinical Genetics. 42: 35-8, 1992.
  201. Moi P., Loudianos G., Lavinha J., Murru S., Cossu P., Casu R., Oggiano L., Longinotti M., Cao A., Pirastu M.
    -thalassemia due to a mutation in an erythroid-specific binding protein sequence 3’ to the -globin gene.
    Blood. 79: 512-6, 1992.
  202. Rosatelli C., Leoni GB., Tuveri T., Scalas MT., Mosca A., Galanello R., Gasperini D., Cao A.
    Heterozygous β-thalassemia: relationship between the hematological phenotype and the type of β-thalassemia mutation.
    American Journal of Hematology. 39:1-4, 1992.
  203. Rosatelli MC., Dozy A., Faa V., Meloni A., Sardu R., Saba L., Kan YW., Cao A.
    Molecular characterization of β-thalassemia in the Sardinian population.
    American Journal of Human Genetics. 50: 422-6, 1992.
  204. Cianchetti C., Muntoni F., Falchi AM., Nucaro A., Sannio-Fancello G., Cao A., Marrosu MG.
    X-linked mental retardation and characteristic physical features in two brothers with duplication Xp22-Xpter.
    American Journal of Medical Genetics. 43: 475-8, 1992.
  205. Cao A., Leoni GB., Sardu R., Pischedda MC., Saba L.
    Prenatal diagnosis of inherited hemoglobinopathies.
    Recenti Progressi in Medicina. 83:224-32, 1992.
  206. Saba L., Meloni A., Sardu R., Travi M., Primignani P., Rosatelli MC., Cao A.
    A novel β-thalassemia mutation (G A) at the initiation codon of the β-globin gene.
    Human Mutation. 1: 420-2, 1992.
  207. Murru S., Poddie D., Sciarratta GV., Agosti S., Baffico M., Melevendi C., Pirastu M., Cao A.
    A novel β-globin structural mutant, Hb Brescia (β 114 Leu Pro), causing a severe β-thalassemia intermedia phenotype.
    Human Mutation. 1: 124-8, 1992.
  208. Loudianos G., Moi P., Lavinha J., Galanello R., Cao A., Pirastu M.
    Normal -globin gene sequences in Sardinian nondeletional β-thalassemia.
    Hemoglobin. 16: 503-9, 1992.
  209. Loudianos G., Murru S., Ristaldi MS., Cossu P., Pilia G., Porcu S., Sciarratta GV., Parodi MI., Cao A., Pirastu M.
    A novel -thalassemia mutation A G C substitution at codon 30 of the -globin gene in a person of southern Italian origin.
    Human Mutation. 1: 169-71, 1992.
  210. Rosatelli MC., Tuveri T., Scalas MT., Leoni GB., Sardu R., Faa V., Meloni A., Pischedda MA., Demurtas M., Monni G., Cao A.
    Molecular screening and fetal diagnosis of *-thalassemia in the Italian population.
    Human Genetics, 89: 585-9, 1992
  211. Meloni A., Rosatelli MC., Faa V., Sardu R., Saba L., Murru S., Sciarratta GV., Baldi M., Tannoia N., Vitucci A., Cao A.
    Promoter mutations producing mild *-thalassemia in the Italian population.
    British Journal of Haematology, 80: 222-6, 1992
  212. Galanello R., Aru B., Dessi C., Addis M., Paglietti E., Melis MA., Cosso S., Massa P., Giagu N., Barella S., Turco MP., Maccioni L., Cao A.
    HbH disease in Sardinia: molecular, hematological and clinical aspects.
    Acta Haematologica, 88: 1-6, 1992
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    Hematology Reviews, 6: 125-36, 1992
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    The Journal Of Biological Chemistry, 268: 22656-62, 1993
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    Screening and prenatal diagnosis of the haemoglobinopathies.
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    Combinations of specific DRB1, DQA1, DQB1 haplotypes are associated with insulin-dependent diabetes mellitus in Sardinia.
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    A novel cystic fibrosis mutation: deletion of seventeen nucleotides at the exon 10-intron 10 boundary of the CFTR gene, in a Sardinian patient.
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    The repeated sequence (AT)x(T)y upstream to the β-globin gene is a simple polymorphism.
    Blood. 81: 1974-5, 1993.
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    A novel β-thalassemia mutation: frameshift at codon 59 detected in an Italian carrier.
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    Hypothalamic growth hormone deficiency in a patient with ring chromosome 18.
    European Journal of Pediatrics. 153:110-2, 1994.
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    Psychological implications and acceptability of preimplantation diagnosis.
    Human Reproduction. 9:360-2, 1994.
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    A novel º-thalassemia mutation: TGG TAG (TRP STOP) at codon 37.
    Human Mutation. 3: 71-2, 1994.
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    Lancet. 343: 388-90, 1994.
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    American Journal of Hematology. 45:81-4, 1994.
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    American Journal of Medical Genetics. 51: 258-9, 1994.
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    Genotype of Subjects With Borderline Hemoglobin A2 Levels: Implication for *-Thalassemia Carrier Screening.
    American Journal of Hematology 46: 79-81, 1994.
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    Transfusion-associated Hepatitis (TAH) in Polytransfused Thalassemic Children Following the Introduction of Anti-HCV Donor Screening in Sardinia.
    Viral Hepatitis and Liver Disease 558-61, 1994.
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    Effect of iron overload on the response to recombinant interferon-a treatment in transfusion-dependent patients with thalassemia major and chronic hepatitis C.
    The Journal of Pediatrics 125: 123-8, 1994.
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    HLA-DQB1*0305 and -DQB1*0304 alleles among Sardinians. Evolutionary and practical implications for oligotyping.
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    Genotype-phenotype correlations in β-thalassemias.
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    A novel single-base mutation in the glucose 6-phosphate dehydrogenase gene is associated with chronic non-spherocytic haemolytic anaemia.
    Human Genetics. 94:560-2, 1994.
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    Hb A2-Sant’ Antioco [ 2 (2)93(F9)Cys Gly]: a new -chain variant identified by sequencing of amplified DNA.
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    Homozygous β-thalassaemia resulting in the β-thalassaemia carrier state phenotype.
    British Journal of Haematology. 88: 562-5, 1994.
  252. Loudianos G., Figus AL., Loi A., Angius A., Dessi V., Deiana M., De Virgiliis S., Monni G., Cao A., Pirastu M.
    Improvement of prenatal diagnosis of Wilson disease using microsatellite markers.
    Prenatal Diagnosis. 14: 999-1002, 1994.
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    Isolation of NF-E2-related factor 2 (Nrf2), a NF-E2-like basic leucine zipper transcriptional activator that binds to the tandem NF-E2/AP1 repeat of the β-globin locus control region.
    Proceedings of the National Academy of Sciences of the United States of America. 91: 9926-30, 1994.
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    Umbilical artery velocity waveforms before and after chorionic villus sampling.
    Prenatal Diagnosis. 14: 799-802, 1994.
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    Mutations in the vasopressin V2-receptor gene in three families of Italian descent with nephrogenic diabetes insipidus.
    Human Molecular Genetics. 3: 1685-6, 1994.
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    Induction of fetal hemoglobin in the presence of increased 3-hydroxybutyric acid associated with beta-ketothiolase deficiency.
    New England Journal of Medicine. 331: 746-7, 1994.
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    Y418C: a novel mutation in exon 9 of the glucocerebrosidase gene of a patient with Gaucher disease creates a new Bgl I site.
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    A promoter mutation, C T at position -92, leading to silent β-thalassaemia.
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    Control of β-thalassaemia by carrier screening, genetic counselling and prenatal diagnosis: the Sardinian experience.
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    Molecular analysis of patients of Sardinian descent with Crigler-Najjar syndrome type I.
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    hMAF, a small human transcription factor that heterodimerizes specifically with Nrf1 and Nrf2.
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    Does a genetic predisposition for infarction expansion exist? Evaluation of genetic polymorphisms of the renin-angiotensin system.
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    Rat tyrosine hydroxylase gene polymorphisms. Brain Research.
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    A YAC contig spanning the blepharophimosis-ptosis-epicanthus inversus syndrome and propionic acidemia loci.
    European Journal of Human Genetics. 5: 171-4, 1997.
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    Hyperbilirubinaemia in heterozygous beta-thalassaemia is related to co-inherited Gilbert’s syndrome.
    British Journal of Haematology. 99: 433-6, 1997.
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    Analysis of exon/intron structure and 400 kb of genomic sequence surrounding the 5’-promoter and 3’-terminal ends of the human glypican 3 (GPC3) gene.
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    Molecular diagnosis and carrier screening for β thalassemia.
    JAMA. 278: 1273-7, 1997.
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    Molecular basis of open-angle glaucoma in Italy.
    Acta Ophthalmologica Scandinavica Supplement. 227: 16-7, 1998.
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    Two novel mutations (10410 T G; 10296 del C) at carboxy-terminus of the dystrophin gene associated with mental retardation.
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    A new glucose 6 phosphate dehydrogenase variant G6PD Sinnai (34 G T).
    Human Mutation. 12: 72-3, 1998.
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    Identification of a novel mutation (S13F) in the CFTR gene in a CF patient of Sardinian origin.
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    Further delineation of the molecular pathology of Wilson disease in the Mediterranean population.
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    Novel nonsense mutation (C A nt 10512) in exon 72 of dystrophin gene leading to exon skipping in a patient with a mild dystrophinopathy.
    Human Mutation. Suppl 1:S137-8, 1998.
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    Elevation of serum creatine kinase as the only manifestation of an intragenic deletion of the dystrophin gene in three unrelated families.
    European Journal of Paediatric Neurology. 2: 255-61, 1998.
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    a-thalassemia carrier identification by DNA analysis in the screening for thalassemia.
    American Journal of Hematology. 59: 273-8, 1998.
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    The -75A?substitution in the 5’ UTR of the Wilson disease gene is a sequence polymorphism in the Mediterranean population.
    American Journal of Human Genetics. 62: 484-5, 1998.
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    European Journal of Pediatrics. 157: 128-9, 1998.
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    Evaluation of IgA deficiency in Sardinians indicates a susceptibility gene is encoded within the HLA class III region.
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    American Journal of Hematology. 57: 43-7, 1998.
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    A novel mutation in the GLC1A gene causes juvenile open-angle glaucoma in 4 families from the Italian region of Puglia.
    Archives of Ophthalmology. 116: 793-7, 1998.
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    Hb Sassari [ 126(H9)Asp His] results from a GAC CAC mutation in the 1-globin gene.
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    The deltaccr5 mutation conferring protection against HIV-1 in Caucasian populations has a single and recent origin in Northeastern Europe.
    Human Molecular Genetics. 7: 399-406, 1998.
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    Prenatal diagnosis and screening of the haemoglobinopathies.
    Baillieres Clinical Haematology. 11: 215-38, 1998.
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    Annals of the New York Academy of Sciences. 850: 325-33, 1998.
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    Haplotype and mutation analysis in Greek patients with Wilson disease.
    European Journal of Human Genetics. 6: 487-91, 1998
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    A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients.
    Human Genetics. 103: 428-34, 1998.
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    Molecular characterization of Wilson Disease in the Sardinian population--evidence of a founder effect.
    Human Mutation. 14: 294-303, 1999.
  310. Melis MA., Addis M., Lepiani C., Congeddu E., Cossu P., Cao A.
    A strategy for fragile-X carrier screening.
    Genetic Testing. 3: 301-4, 1999.
  311. Pilia G., Uda M., Macis D., Frau F., Crisponi L., Balli F., Barbera C., Colombo C., Frediani T., Gatti R., Iorio R., Marazzi MG., Marcellini M., Musumeci S., Nebbia G., Vajro P., Ruffa G., Zancan L., Cao A., DeVirgilis S.
    Jagged-1 mutation analysis in Italian Alagille syndrome patients.
    Human Mutation. 14: 394-400, 1999
  312. Marwan MM., Scerri CA., Zarroag SO., Cao A., Kyrri A., Kalogirou E., Kleanthous M., Ioannou P., Angastiniotis M., Felice AE.
    Comparative in vivo expression of β(+)-thalassemia alleles.
    Hemoglobin. 23: 221-9, 1999.
  313. Galanello R., Cipollina MD., Dessi C., Giagu N., Lai E., Cao A.
    Co-inherited Gilbert’s syndrome: a factor determining hyperbilirubinemia in homozygous β-thalassemia.
    Haematologica. 84:103-5, 1999.
  314. Paleari R., Paglietti E., Mosca A., Mortarino M., Maccioni L., Satta S., Cao A., Galanello R.
    Posttranslational deamidation of proteins: the case of hemoglobin J Sardegna [ 50(CD8)His Asn Asp].
    Clinical Chemistry. 45: 21-8, 1999
  315. Ristaldi MS., Casula S., Porcu S., Marongiu MF., Pirastu M., Cao A.
    Activation of the d-globin gene by the β-globin gene CACCC motif.
    Blood Cells, Molecules, & Diseases. 25: 193-209, 1999.
  316. Galanello R., Cipollina MD., Carboni G., Perseu L., Barella S., Corrias A., Cao A.
    Hyperbilirubinemia, glucose-6-phosphate-dehydrogenase deficiency and Gilbert’s syndrome.
    European Journal of Pediatrics. 158: 914-6, 1999.
  317. Loudianos G., Dessi V., Lovicu M., Angius A., Altuntas B., Giacchino R., Marazzi M., Marcellini M., Sartorelli MR., Sturniolo GC., Kocak N., Yuce A., Akar N., Pirastu M., Cao A.
    Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations.
    Journal of Medical Genetics. 36: 833-6, 1999.
  318. Cazzola M., Beguin Y., Bergamaschi G., Guarnone R., Cerani P., Barella S., Cao A., Galanello R.
    Soluble transferrin receptor as a potential determinant of iron loading in congenital anaemias due to ineffective erythropoiesis.
    British Journal of Haematology. 106: 752-5, 1999.
  319. Loudianos G., Lovicu M., Solinas P., Kanavakis E., Tzetis M., Manolaki N., Panagiotakaki E., Karpathios T., Cao A.
    Delineation of the spectrum of Wilson disease mutations in the Greek population and the identification of six novel mutations.
    Genetic Testing. 4: 399-402, 2000
  320. Mancosu MG., Galanello R., Ambu R., De Virgiliis S., Giagu N., Cao A., Faa G.
    Histological picture of liver disease in thalassemia intermedia.
    Pathologica. 92: 241-8, 2000
  321. Saxena R., Moi L., Demurtas M., Rosatelli MC., Cao A., Verma IC.
    A β-thalassaemia allele with 3 base substitution in codons 4/5 & 6 (ACT CCT GAG ACA TCT TAG) detected by denaturing gradient gel electrophoresis & sequencing.
    Indian Journal of Medical Research. 111: 24-7, 2000.
  322. Lodianos G., Lovicu M., Solinas P., Kanavakis E., Tzetis M., Manolaki N., Panagiotakaki E., Karpathios t. Cao A.
    Delineation of the spectrum of Wilson disease mutations in the Greek population and the identification of six novel mutations.
    Genet Test. 4: 399-402, 2000.
  323. Taillon-Miller P., Bauer-Sardina I., Saccone NL., Putzel J., Laitinen T., Cao A., Kere J., Pilia G., Rice JP., Kwok PY.
    Juxtaposed regions of extensive and minimal linkage disequilibrium in human Xq25 and Xq28.
    Nature Genetics. 25: 324-8, 2000.
  324. Ristaldi MS., Casula S., Porcu S., Cao A.
    Normal d-globin gene sequence in carrier of the silent-101 (C?T) β-thalassemia mutation with normal HbA2 level.
    American Journal of Hematology 67: :58, 2001.
  325. Crisponi L., Deiana M., Loi A., Chiappe F., Uda M., Amati P., Bisceglia L., Zelante L., Nagaraja R., Porcu S., Ristaldi MS., Marzella R., Rocchi M., Nicolino M., Lienhardt-Roussie A., Nivelon A., Verloes A., Schlessinger D., Gasparini P., Bonneau D., Cao A., Pilia G.
    The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome.
    Nature Genetics. 27: 159-66, 2001.
  326. Galanello R., Piras S., Barella S., Leoni GB., Cipollina MD., Perseu L., Cao A.
    Cholelithiasis and Gilbert’s syndrome in homozygous beta-thalassemia.
    Br J Haematol. 115: 926-8, 2001.
  327. Ristaldi MS., Drabek D., Gribnau J., Poddie D., Yannoutsous N., Cao A., Grosveld F., Imam AM.
    The role of the -50 region of the human gamma-globin gene in switching.
    EMBO J., 20: 5242-9, 2001.
  328. Meloni A Perniola R., Faa V., Corvaglia E., Cao A., Rosatelli MC.
    Delineation of the molecular defects in the AIRE gene in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients from Southern Italy.
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    Homozygosity for nondeletion delta-beta (0) thalassemia resulting in a asilent clinical phenotype.
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  331. Porcu L., Meloni A., Casula L., Asunis I., Marini MG., Cao A., Moi P.
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    Screening for thalassemia: a model of success.
    Obstet Gynecol Clin North Am. 29: 305-28, 2002.
  333. Cao A., Moi P.
    Regulation of the globin genes.
    Pediatr Res. 51: 415-21, 2002.
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    H63D mutation in the HFE gene increases iron overload in beta-thalassemia carriers.
    Haematologica. 87: 242-5, 2002.
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    Delineation of the molecular defects in the AIRE gene in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients from Southern Italy.
    J Clin Endocrinol Metab. 87: 841-6, 2002.
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    genes and translocations involved in POF.
    Am J Med Genet. 111: 328-33, 2002.
  337. Chiao E., Fisher P., Crisponi L., Deiana M., Dragatsis I., Schlessinger D., Pilia G., Eftstratiadis A.
    Overgrowth of a mouse model of the Simpson-Golabi-Behmel syndrome is independent of IGF signaling.
    Dev Biol. 243: 185-206, 2002.
  338. Clemente MG., Musu P., Frau F., Lucia C., De Virgiliis S.
    Antitissue transglutaminase antibodies outside celiac disease.
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    Parameters for reliable results in genetic association studies in common disease.
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    Screening for thalassemia. A model of success.
    Obstet Gynecol Clin N Am. 29: 305-28, 2002.
  341. Cao A., Galanello R.
    Effect of consanguinity on screening for thalassemia.
    N Engl J Med. 347: 1200-2.
  342. Gemignani F, Perra C, Landi S, Canzian F, Kurg A, Tonisson N, Galanello R, Cao A, Metspalu A, Romeo G.
    Reliable detection of beta-thalassemia and G6PD mutations by a DNA microarray.
    Clin Chem. 48: 2051-4, 2002.
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    Abnormal mRNA splicing resulting from consensus sequence splicing mutations of ATP7B.
    Hum Mutat 20: 260-6, 2002.

About Alessia

♦ Chi è Alessia


Ti spiego molto brevemente chi sono

Un piccolissimo riepilogo di me, tanto per farti conoscere chi è in realtà, Alessia Mancosu…

♦ La mia famiglia


Vi presento chi c’è nella mia famiglia

Ho l’onore di presentarti brevemente, chi sono i miei familiari! Dario, Rosa, Giada e tutti gli altri parenti…

♦ La mia storia


La mia vita in breve, dalla nascita

Ti racconto tutte le peripezie che ho dovuto affrontare fino ad oggi, …da quando sono nata!

♦ Io e la Celiachia


Non mi faccio mancare nulla!! :(

Beh! Ti pareva che potesse filare tutto liscio!?? NO!!! e infatti, ecco che purtroppo arriva anche la Celiachia a tenermi compagnia! :(

♦ Le mie fotografie


Guarda le mie fotografie preferite

Ti faccio sfogliare l’album delle mie fotografie!
Qui ci sono quelle che io preferisco! :D