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Antonio Cao
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78
Galanello, Renzo
45
Pirastu, Mario
40
Melis, Maria Antonietta
39
Rosatelli, Maria Cristina
31
Loudianos, Georgios
28
De Virgiliis, Stefano
27
Monni, Giovanni
22
Paglietti, E
21
Moi, Paolo
19
Maccioni, Liliana
18
Barella, Susanna
18
Perseu, Luciana
18
alessandra, meloni
14
Uda, Manuela
14
Schlessinger, David
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All Publications
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2009: Faà Valeria; Incani Federica; Meloni Alessandra; Corda Denise; Masala Maddalena; Baffico A Maria; Seia Manuela; Cao Antonio; Rosatelli M Cristina
Characterization of a disease-associated mutation affecting a putative splicing regulatory element in intron 6b of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
The Journal of biological chemistry 2009;284(44):30024-31.
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2009: Galanello Renzo; Sanna Serena; Perseu Lucia; Sollaino Maria Carla; Satta Stefania; Lai Maria Eliana; Barella Susanna; Uda Manuela; Usala Gianluca; Abecasis Goncalo R; Cao Antonio
Amelioration of Sardinian beta0 thalassemia by genetic modifiers.
Blood 2009;114(18):3935-7.
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2009: Sanna Serena; Busonero Fabio; Maschio Andrea; McArdle Patrick F; Usala Gianluca; Dei Mariano; Lai Sandra; Mulas Antonella; Piras Maria Grazia; Perseu Lucia; Masala Marco; Marongiu Mara; Crisponi Laura; Naitza Silvia; Galanello Renzo; Abecasis Gonçalo R; Shuldiner Alan R; Schlessinger David; Cao Antonio; Uda Manuela
Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia.
Human molecular genetics 2009;18(14):2711-8.
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2009: Lovicu Mario; Lepori Maria Barbara; Incollu Simona; Dessì Valentina; Zappu Antonietta; Iorio Raffaele; D'Ambrosi Mariangela; Pellecchia Maria Teresa; Barone Paolo; Maggiore Giuseppe; De Virgiliis Stefano; Cao Antonio; Loudianos Georgios
RNA analysis of consensus sequence splicing mutations: implications for the diagnosis of Wilson disease.
Genetic testing and molecular biomarkers 2009;13(2):185-91.
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2009: Garcia-Ortiz José Elias; Pelosi Emanuele; Omari Shakib; Nedorezov Timur; Piao Yulan; Karmazin Jesse; Uda Manuela; Cao Antonio; Cole Steve W; Forabosco Antonino; Schlessinger David; Ottolenghi Chris
Foxl2 functions in sex determination and histogenesis throughout mouse ovary development.
BMC developmental biology 2009;9():36.
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2008: Marcialis Maria Antonietta; Faà Valeria; Fanos Vassilios; Puddu Melania; Pintus Maria Cristina; Cao Antonio; Rosatelli Maria Cristina
Neonatal onset of nephrogenic syndrome of inappropriate antidiuresis.
Pediatric nephrology (Berlin, Germany) 2008;23(12):2267-71.
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2008: Melis Maria Antonietta; Cau Milena; Congiu Rita; Sole Gabriella; Barella Susanna; Cao Antonio; Westerman Mark; Cazzola Mario; Galanello Renzo
A mutation in the TMPRSS6 gene, encoding a transmembrane serine protease that suppresses hepcidin production, in familial iron deficiency anemia refractory to oral iron.
Haematologica 2008;93(10):1473-9.
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2008: Zappu Antonietta; Magli Olympia; Lepori Maria Barbara; Dessì Valentina; Diana Stefania; Incollu Simona; Kanavakis Emmanuel; Nicolaidou Polyxeni; Manolaki Nina; Fretzayas Andreas; De Virgiliis Stefano; Cao Antonio; Loudianos Georgios
High incidence and allelic homogeneity of Wilson disease in 2 isolated populations: a prerequisite for efficient disease prevention programs.
Journal of pediatric gastroenterology and nutrition 2008;47(3):334-8.
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2008: Lettre Guillaume; Sankaran Vijay G; Bezerra Marcos André C; Araújo Aderson S; Uda Manuela; Sanna Serena; Cao Antonio; Schlessinger David; Costa Fernando F; Hirschhorn Joel N; Orkin Stuart H
DNA polymorphisms at the BCL11A, HBS1L-MYB, and beta-globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease.
Proceedings of the National Academy of Sciences of the United States of America 2008;105(33):11869-74.
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2008: Arnaud-Lopez Lisette; Usala Gianluca; Ceresini Graziano; Mitchell Braxton D; Pilia Maria Grazia; Piras Maria Grazia; Sestu Natascia; Maschio Andrea; Busonero Fabio; Albai Giuseppe; Dei Mariano; Lai Sandra; Mulas Antonella; Crisponi Laura; Tanaka Toshiko; Bandinelli Stefania; Guralnik Jack M; Loi Angela; Balaci Lenuta; Sole Gabriella; Prinzis Alessia; Mariotti Stefano; Shuldiner Alan R; Cao Antonio; Schlessinger David; Uda Manuela; Abecasis Gonçalo R; Nagaraja Ramaiah; Sanna Serena; Naitza Silvia
Phosphodiesterase 8B gene variants are associated with serum TSH levels and thyroid function.
American journal of human genetics 2008;82(6):1270-80.
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2008: Floris Chiara; Rassu Stefania; Boccone Loredana; Gasperini Daniela; Cao Antonio; Crisponi Laura
Two patients with balanced translocations and autistic disorder: CSMD3 as a candidate gene for autism found in their common 8q23 breakpoint area.
European journal of human genetics : EJHG 2008;16(6):696-704.
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2008: Uda Manuela; Galanello Renzo; Sanna Serena; Lettre Guillaume; Sankaran Vijay G; Chen Weimin; Usala Gianluca; Busonero Fabio; Maschio Andrea; Albai Giuseppe; Piras Maria Grazia; Sestu Natascia; Lai Sandra; Dei Mariano; Mulas Antonella; Crisponi Laura; Naitza Silvia; Asunis Isadora; Deiana Manila; Nagaraja Ramaiah; Perseu Lucia; Satta Stefania; Cipollina Maria Dolores; Sollaino Carla; Moi Paolo; Hirschhorn Joel N; Orkin Stuart H; Abecasis Gonçalo R; Schlessinger David; Cao Antonio
Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia.
Proceedings of the National Academy of Sciences of the United States of America 2008;105(5):1620-5.
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2008: Meloni Alessandra; Incani Federica; Corda Denise; Cao Antonio; Rosatelli Maria Cristina
Role of PHD fingers and COOH-terminal 30 amino acids in AIRE transactivation activity.
Molecular immunology 2008;45(3):805-9.
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2008: Cao A; Congiu R; Sollaino M C; Desogus M F; Demartis F R; Loi D; Cau M; Galanello R
Thalassaemia and glucose-6-phosphate dehydrogenase screening in 13- to 14-year-old students of the Sardinian population: preliminary findings.
Community genetics 2008;11(3):121-8.
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2007: Ottolenghi Chris; Pelosi Emanuele; Tran Joseph; Colombino Maria; Douglass Eric; Nedorezov Timur; Cao Antonio; Forabosco Antonino; Schlessinger David
Loss of Wnt4 and Foxl2 leads to female-to-male sex reversal extending to germ cells.
Human molecular genetics 2007;16(23):2795-804.
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2007: Li Siguang; Sanna Serena; Maschio Andrea; Busonero Fabio; Usala Gianluca; Mulas Antonella; Lai Sandra; Dei Mariano; Orrù Marco; Albai Giuseppe; Bandinelli Stefania; Schlessinger David; Lakatta Edward; Scuteri Angelo; Najjar Samer S; Guralnik Jack; Naitza Silvia; Crisponi Laura; Cao Antonio; Abecasis Gonçalo; Ferrucci Luigi; Uda Manuela; Chen Wei-Min; Nagaraja Ramaiah
The GLUT9 gene is associated with serum uric acid levels in Sardinia and Chianti cohorts.
PLoS genetics 2007;3(11):e194.
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2007: Ottolenghi Chris; Colombino Maria; Crisponi Laura; Cao Antonio; Forabosco Antonino; Schlessinger David; Uda Manuela
Transcriptional control of ovarian development in somatic cells.
Seminars in reproductive medicine 2007;25(4):252-63.
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2007: Crisponi Laura; Crisponi Giangiorgio; Meloni Alessandra; Toliat Mohammad Reza; Nurnberg Gudrun; Usala Gianluca; Uda Manuela; Masala Marco; Hohne Wolfgang; Becker Christian; Marongiu Mara; Chiappe Francesca; Kleta Robert; Rauch Anita; Wollnik Bernd; Strasser Friedrich; Reese Thomas; Jakobs Cornelis; Kurlemann Gerd; Cao Antonio; Nurnberg Peter; Rutsch Frank
Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1.
American journal of human genetics 2007;80(5):971-81.
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2007: Ottolenghi Chris; Uda Manuela; Crisponi Laura; Omari Shakib; Cao Antonio; Forabosco Antonino; Schlessinger David
Determination and stability of sex.
BioEssays : news and reviews in molecular, cellular and developmental biology 2007;29(1):15-25.
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2007: Addis Maria; Meloni Cristiana; Congiu Rita; Santaniello Simona; Emma Francesco; Zuffardi Orsetta; Ciccone Roberto; Cao Antonio; Melis Maria Antonietta; Cau Milena
A novel interstitial deletion in Xq25, identified by array-CGH in a patient with Lowe syndrome.
European journal of medical genetics 2007;50(1):79-84.
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2007: Lepori Maria Barbara; Lovicu Mario; Dessi Valentina; Zappu Antonietta; Incollu Simona; Zancan Lucia; Giacchino Raffaella; Iorio Raffaele; Vajro Pietro; Maggiore Giuseppe; Marcellini Matilde; Barbera Cristiana; Pellecchia Maria Teresa; Simonetti Rosanna; Kostic Vladimir; Farci Anna Maria Giulia; Solinas Antonello; De Virgiliis Stefano; Cao Antonio; Loudianos Georgios
Twenty-four novel mutations in Wilson disease patients of predominantly Italian origin.
Genetic testing 2007;11(3):328-32.
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2006: Orofino Maria Grazia; Contu Daniela; Argiolu Francesca; Sanna Maria Adele; Gaziev Javid; La Nasa Giorgio; Vacca Adriana; Cao Antonio; Cucca Francesco
No influence of chromosome Y haplogroup variation in acute graft-versus-host disease in sardinia.
Transplantation 2006;82(11):1529-32.
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2006: Faà Valeria; Bettoli Pietro Pellegrini; Demurtas Maria; Zanda Maurizio; Ferri Vincenzina; Cao Antonio; Rosatelli Maria Cristina
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.
The Journal of molecular diagnostics : JMD 2006;8(4):499-503.
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2006: Boccone Loredana; Dessì Valentina; Zappu Antonietta; Piga Silvia; Piludu Maria Bonaria; Rais Marco; Massidda Carlo; De Virgiliis Stefano; Cao Antonio; Loudianos Georgios
Bannayan-Riley-Ruvalcaba syndrome with reactive nodular lymphoid hyperplasia and autism and a PTEN mutation.
American journal of medical genetics. Part A 2006;140(18):1965-9.
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2006: Pilia Giuseppe; Chen Wei-Min; Scuteri Angelo; Orrú Marco; Albai Giuseppe; Dei Mariano; Lai Sandra; Usala Gianluca; Lai Monica; Loi Paola; Mameli Cinzia; Vacca Loredana; Deiana Manila; Olla Nazario; Masala Marco; Cao Antonio; Najjar Samer S; Terracciano Antonio; Nedorezov Timur; Sharov Alexei; Zonderman Alan B; Abecasis Gonçalo R; Costa Paul; Lakatta Edward; Schlessinger David
Heritability of cardiovascular and personality traits in 6,148 Sardinians.
PLoS genetics 2006;2(8):e132.
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2006: Lovicu Mario; Dessì Valeria; Lepori Maria Barbara; Zappu Antonietta; Zancan Lucia; Giacchino Raffaella; Marazzi Maria Grazia; Iorio Raffaele; Vegnente Angela; Vajro Pietro; Maggiore Giuseppe; Marcellini Matilde; Barbera Cristiana; Kostic Vladimir; Farci Anna Maria Giulia; Solinas Antonello; Altuntas Buket; Yuce Aysel; Kocak Nurten; Tsezou Aspasia; De Virgiliis Stefano; Cao Antonio; Loudianos Georgios
The canine copper toxicosis gene MURR1 is not implicated in the pathogenesis of Wilson disease.
Journal of gastroenterology 2006;41(6):582-7.
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2006: Nucaro Anna Lisa; Rossino Rossano; Pruna Dario; Rassu Stefania; Cianchetti Carlo; Cao Antonio; Moi Paolo
Prenatal diagnosis of a mosaic supernumerary marker iso (8p) (tetrasomy 8p): discordance between chorionic villi culture and amniotic fluid karyotypes.
Prenatal diagnosis 2006;26(5):418-9.
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2006: Faà Valeria; Meloni Alessandra; Moi Loredana; Ibba Giuseppe; Travi Maurizio; Vitucci Antonio; Cao Antonio; Rosatelli Maria Cristina
Thalassaemia-like carriers not linked to the beta-globin gene cluster.
British journal of haematology 2006;132(5):640-50.
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2006: Cau Milena; Addis Maria; Congiu Rita; Meloni Cristiana; Cao Antonio; Santaniello Simona; Loi Mario; Emma Francesco; Zuffardi Orsetta; Ciccone Roberto; Sole Gabriella; Melis Maria Antonietta
A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome.
Journal of human genetics 2006;51(11):1030-6.
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2005: Porcu Susanna; Poddie Daniela; Melis Marco; Cao Antonio; Ristaldi Maria Serafina
beta-Minor globin gene expression is preferentially reduced in EKLF Knock-Out mice.
Gene 2005;351():11-7.
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2005: Meloni A; Fiorillo E; Corda D; Perniola R; Cao A; Rosatelli M C
Two novel mutations of the AIRE protein affecting its homodimerization properties.
Human mutation 2005;25(3):319.
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2004: Galanello Renzo; Perseu Lucia; Perra Chiara; Maccioni Liliana; Barella Susanna; Longinotti Maurizio; Cao Antonio; Cazzola Mario
Somatic deletion of the normal beta-globin gene leading to thalassaemia intermedia in heterozygous beta-thalassaemic patients.
British journal of haematology 2004;127(5):604-6.
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2004: Marini Maria Giuseppina; Asunis Isadora; Porcu Loredana; Salgo Maria Giulia; Loi Maria Giuseppina; Brucchietti Arianna; Cao Antonio; Moi Paolo
The distal beta-globin CACCC box is required for maximal stimulation of the beta-globin gene by EKLF.
British journal of haematology 2004;127(1):114-7.
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2004: Moi Paolo; Faà Valeria; Marini Maria Giuseppina; Asunis Isadora; Ibba Giuseppe; Cao Antonio; Rosatelli Maria Cristina
A novel silent beta-thalassemia mutation in the distal CACCC box affects the binding and responsiveness to EKLF.
British journal of haematology 2004;126(6):881-4.
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2004: Latini Veronica; Sole Gabriella; Doratiotto Silvia; Poddie Daniela; Memmi Marc; Varesi Laurent; Vona Giuseppe; Cao Antonio; Ristaldi Maria Serafina
Genetic isolates in Corsica (France): linkage disequilibrium extension analysis on the Xq13 region.
European journal of human genetics : EJHG 2004;12(8):613-9.
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2004: Uda Manuela; Ottolenghi Chris; Crisponi Laura; Garcia Jose Elias; Deiana Manila; Kimber Wendy; Forabosco Antonino; Cao Antonio; Schlessinger David; Pilia Giuseppe
Foxl2 disruption causes mouse ovarian failure by pervasive blockage of follicle development.
Human molecular genetics 2004;13(11):1171-81.
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2004: Crisponi Laura; Uda Manuela; Deiana Manila; Loi Angela; Nagaraja Ramaiah; Chiappe Francesca; Schlessinger David; Cao Antonio; Pilia Giuseppe
FOXL2 inactivation by a translocation 171 kb away: analysis of 500 kb of chromosome 3 for candidate long-range regulatory sequences.
Genomics 2004;83(5):757-64.
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2004: Boccone L; Gasperini D; Pilloni G; Cao A; Nucaro A
Duplication of the terminal band of the long arm of chromosome 7: a new case.
Genetic counseling (Geneva, Switzerland) 2004;15(1):87-90.
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2003: Orofino Maria Grazia; Argiolu Francesca; Sanna Maria Adele; Rosatelli Maria Cristina; Tuveri Teresa; Scalas Maria Teresa; Badiali Manuela; Cossu Paola; Puddu Rosalba; Lai Maria Eliana; Cao Antonio
Fetal HLA typing in beta thalassaemia: implications for haemopoietic stem-cell transplantation.
Lancet 2003;362(9377):41-2.
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2003: Nucaro Anna Lisa; Cao Antonio; Faedda Antonella; Crisponi Giangiorgio
Trisomy 8 mosaicism in a patient born to a mother with 47,XXX.
American journal of medical genetics. Part A 2003;119A(1):85-6.
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2003: Lovicu Mario; Dessi Valeria; Zappu Antonietta; De Virgiliis Stefano; Cao Antonio; Loudianos Georgios
Efficient strategy for molecular diagnosis of Wilson disease in the sardinian population.
Clinical chemistry 2003;49(3):496-8.
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2003: Loudianos Georgios; Kostic Vladimir; Solinas Paola; Lovicu Mario; Dessì Valeria; Svetel Marina; Major Tamara; Cao Antonio
Characterization of the molecular defect in the ATP7B gene in Wilson disease patients from Yugoslavia.
Genetic testing 2003;7(2):107-12.
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2002: Gemignani Federica; Perra Chiara; Landi Stefano; Canzian Federico; Kurg Ants; Tõnisson Neeme; Galanello Renzo; Cao Antonio; Metspalu Andres; Romeo Giovanni
Reliable detection of beta-thalassemia and G6PD mutations by a DNA microarray.
Clinical chemistry 2002;48(11):2051-4.
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2002: Loudianos G; Lovicu M; Dessi V; Tzetis M; Kanavakis E; Zancan L; Zelante L; Galvèz-Galvèz C; Cao A
Abnormal mRNA splicing resulting from consensus sequence splicing mutations of ATP7B.
Human mutation 2002;20(4):260-6.
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2002: Marini M Giuseppina; Asunis Isadora; Chan Kaimin; Chan Jefferson Y; Kan Yuet W; Porcu Loredana; Cao Antonio; Moi Paolo
Cloning MafF by recognition site screening with the NFE2 tandem repeat of HS2: analysis of its role in globin and GCSl genes regulation.
Blood cells, molecules & diseases 2002;29(2):145-58.
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2002: Galanello Renzo; Barella Susanna; Satta Stefania; Maccioni Liliana; Pintor Carlo; Cao Antonio
Homozygosity for nondeletion delta-beta(0) thalassemia resulting in a silent clinical phenotype.
Blood 2002;100(5):1913-4.
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2002: Cao Antonio
Carrier screening and genetic counselling in beta-thalassemia.
International journal of hematology 2002;76 Suppl 2():105-13.
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2002: Porcu L; Meloni A; Casula L; Asunis I; Marini M G; Cao A; Moi P
A novel splicing defect (IVS6+1G>T) in a patient with pseudovitamin D deficiency rickets.
Journal of endocrinological investigation 2002;25(6):557-60.
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2002: Cao Antonio; Rosatelli Maria Cristina; Monni Giovanni; Galanello Renzo
Screening for thalassemia: a model of success.
Obstetrics and gynecology clinics of North America 2002;29(2):305-28, vi-vii.
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2002: Cao Antonio; Moi Paolo
Regulation of the globin genes.
Pediatric research 2002;51(4):415-21.
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2002: Melis Maria Antonietta; Cau Milena; Deidda Federica; Barella Susanna; Cao Antonio; Galanello Renzo
H63D mutation in the HFE gene increases iron overload in beta-thalassemia carriers.
Haematologica 2002;87(3):242-5.
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2002: Meloni Alessandra; Perniola Roberto; Faà Valeria; Corvaglia Enrico; Cao Antonio; Rosatelli Maria Cristina
Delineation of the molecular defects in the AIRE gene in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients from Southern Italy.
The Journal of clinical endocrinology and metabolism 2002;87(2):841-6.
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2002: Nucaro A; Faedda A; Cao A; Boccone L
Partial proximal trisomy 10q syndrome: a new case.
Genetic counseling (Geneva, Switzerland) 2002;13(4):411-6.
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2002: Melis Maria Antonietta; Cau Milena; Congiu Rita; Ruvoletto Livia; Cao Antonio; Galanello Renzo
Frequency of hemochromatosis C282Y and H63D mutations in Sardinia.
Genetic testing 2002;6(4):327-9.
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2001: Galanello R; Piras S; Barella S; Leoni G B; Cipollina M D; Perseu L; Cao A
Cholelithiasis and Gilbert's syndrome in homozygous beta-thalassaemia.
British journal of haematology 2001;115(4):926-8.
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2001: Ristaldi M S; Drabek D; Gribnau J; Poddie D; Yannoutsous N; Cao A; Grosveld F; Imam A M
The role of the -50 region of the human gamma-globin gene in switching.
The EMBO journal 2001;20(18):5242-9.
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2001: Ristaldi M S; Casula S; Porcu S; Cao A
Normal delta globin gene sequence in carrier of the silent-101 (C-T) beta-thalassemia mutation with normal HbA2 level.
American journal of hematology 2001;67(1):58.
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2001: Crisponi L; Deiana M; Loi A; Chiappe F; Uda M; Amati P; Bisceglia L; Zelante L; Nagaraja R; Porcu S; Ristaldi M S; 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 2001;27(2):159-66.
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2000: Mancosu M G; Galanello R; Ambu R; De Virgiliis S; Giagu N; Cao A; Faa G
[Histological picture of liver disease in thalassemia intermedia]
Pathologica 2000;92(4):241-8.
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2000: Cao A; Moi P
Genetic modifying factors in beta-thalassemia.
Clinical chemistry and laboratory medicine : CCLM / FESCC 2000;38(2):123-32.
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2000: Saxena R; Moi L; Demurtas M; Rosatelli M C; Cao A; Verma I C
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.
The Indian journal of medical research 2000;111():24-7.
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2000: 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 2000;4(4):399-402.
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1999: Loudianos G; Dessi V; Lovicu M; Angius A; Altuntas B; Giacchino R; Marazzi M; Marcellini M; Sartorelli M R; Sturniolo G C; 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 1999;36(11):833-6.
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1999: Galanello R; Cipollina M D; Carboni G; Perseu L; Barella S; Corrias A; Cao A
Hyperbilirubinemia, glucose-6-phosphate-dehydrogenase deficiency and Gilbert's syndrome.
European journal of pediatrics 1999;158(11):914-6.
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1999: 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 1999;106(3):752-5.
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1999: Ristaldi M S; Casula S; Porcu S; Marongiu M F; Pirastu M; Cao A
Activation of the delta-globin gene by the beta-globin gene CACCC motif.
Blood cells, molecules & diseases 1999;25(3-4):193-209.
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1999: Galanello R; Cipollina M D; Dessì C; Giagu N; Lai E; Cao A
Co-inherited Gilbert's syndrome: a factor determining hyperbilirubinemia in homozygous beta-thalassemia.
Haematologica 1999;84(2):103-5.
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1999: 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 [alpha50(CD8)His-->Asn-->Asp].
Clinical chemistry 1999;45(1):21-8.
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1999: Pilia G; Uda M; Macis D; Frau F; Crisponi L; Balli F; Barbera C; Colombo C; Frediani T; Gatti R; Iorio R; Marazzi M G; 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 1999;14(5):394-400.
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1999: Loudianos G; Dessi V; Lovicu M; Angius A; Figus A; Lilliu F; De Virgiliis S; Nurchi A M; Deplano A; Moi P; Pirastu M; Cao A
Molecular characterization of wilson disease in the Sardinian population--evidence of a founder effect.
Human mutation 1999;14(4):294-303.
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1999: Melis M A; Addis M; Lepiani C; Congeddu E; Cossu P; Cao A
A strategy for fragile-X carrier screening.
Genetic testing 1999;3(3):301-4.
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1998: Pellegrini M; Pilia G; Pantano S; Lucchini F; Uda M; Fumi M; Cao A; Schlessinger D; Forabosco A
Gpc3 expression correlates with the phenotype of the Simpson-Golabi-Behmel syndrome.
Developmental dynamics : an official publication of the American Association of Anatomists 1998;213(4):431-9.
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1998: Galanello R; Sollaino C; Paglietti E; Barella S; Perra C; Doneddu I; Pirroni M G; Maccioni L; Cao A
Alpha-thalassemia carrier identification by DNA analysis in the screening for thalassemia.
American journal of hematology 1998;59(4):273-8.
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1998: Rosatelli M C; Meloni A; Meloni A; Devoto M; Cao A; Scott H S; Peterson P; Heino M; Krohn K J; Nagamine K; Kudoh J; Shimizu N; Antonarakis S E
A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients.
Human genetics 1998;103(4):428-34.
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1998: Loudianos G; Dessì V; Lovicu M; Angius A; Kanavakis E; Tzetis M; Kattamis C; Manolaki N; Vassiliki G; Karpathios T; Cao A; Pirastu M
Haplotype and mutation analysis in Greek patients with Wilson disease.
European journal of human genetics : EJHG 1998;6(5):487-91.
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1998: Galanello R; Cao A
Relationship between genotype and phenotype. Thalassemia intermedia.
Annals of the New York Academy of Sciences 1998;850():325-33.
-
1998: Cao A; Galanello R; Rosatelli M C
Prenatal diagnosis and screening of the haemoglobinopathies.
Baillière's clinical haematology 1998;11(1):215-38.
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1998: Angius A; Dessi V; Lovicu M; De Virgiliis S; Pirastu M; Cao A
Early and severe neurological features in a Wilson disease patient compound heterozygous for two frameshift mutations.
European journal of pediatrics 1998;157(2):128-9.
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1998: Loudianos G; Dessi V; Lovicu M; Angius A; Cao A; Pirastu M
The -75A-->C substitution in the 5' UTR of the Wilson disease gene is a sequence polymorphism in the Mediterranean population.
American journal of human genetics 1998;62(2):484-5.
-
1998: Paglietti E; Barella S; Satta S; Perra C; Cao A; Galanello R
Hb Sassari [alpha 126(H9)Asp-->His] results from a GAC-->CAC mutation in the alpha 1-globin gene.
Hemoglobin 1998;22(1):65-7.
-
1998: Gasperini D; Perseu L; Melis M A; Maccioni L; Sollaino M C; Paglietti E; Cao A; Galanello R
Heterozygous beta-thalassemia with thalassemia intermedia phenotype.
American journal of hematology 1998;57(1):43-7.
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1998: Melis M A; Cau M; Muntoni F; Mateddu A; Galanello R; Boccone L; Deidda F; Loi D; Cao A
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 : EJPN : official journal of the European Paediatric Neurology Society 1998;2(5):255-61.
-
1998: Galanello R; Loi D; Sollaino C; Dessì S; Cao A; Melis M A
A new glucose 6 phosphate dehydrogenase variant G6PD Sinnai (34 G-->T). Mutations in brief no. 156. Online.
Human mutation 1998;12(1):72-3.
-
1998: Cau M; Cao A; Loi D; Puddu A; Muntoni F; Mateddu A; Melis M A
Two novel mutations (10410 T-->G; 10296 del C) at carboxy-terminus of the dystrophin gene associated with mental retardation. Mutations in brief no. 149. Online.
Human mutation 1998;12(1):70.
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1998: Loudianos G; Dessì V; Lovicu M; Angius A; Nurchi A; Sturniolo G C; Marcellini M; Zancan L; Bragetti P; Akar N; Yagci R; Vegnente A; Cao A; Pirastu M
Further delineation of the molecular pathology of Wilson disease in the Mediterranean population.
Human mutation 1998;12(2):89-94.
-
1998: Leoni G B; Pitzalis S; Tonelli R; Cao A
Identification of a novel mutation (S13F) in the CFTR gene in a CF patient of Sardinian origin.
Human mutation 1998;11(4):337.
-
1998: Melis M A; Muntoni F; Cau M; Loi D; Puddu A; Boccone L; Mateddu A; Cianchetti C; Cao A
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 1998;Suppl 1():S137-8.
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1997: Galanello R; Perseu L; Melis M A; Cipollina L; Barella S; Giagu N; Turco M P; Maccioni O; Cao A
Hyperbilirubinaemia in heterozygous beta-thalassaemia is related to co-inherited Gilbert's syndrome.
British journal of haematology 1997;99(2):433-6.
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1997: Huber R; Crisponi L; Mazzarella R; Chen C N; Su Y; Shizuya H; Chen E Y; Cao A; Pilia G
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.
Genomics 1997;45(1):48-58.
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1997: Cao A; Saba L; Galanello R; Rosatelli M C
Molecular diagnosis and carrier screening for beta thalassemia.
JAMA : the journal of the American Medical Association 1997;278(15):1273-7.
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1997: Marini M G; Chan K; Casula L; Kan Y W; Cao A; Moi P
hMAF, a small human transcription factor that heterodimerizes specifically with Nrf1 and Nrf2.
The Journal of biological chemistry 1997;272(26):16490-7.
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1997: Piemontese M R; Memeo E; Carella M; Amati P; Chomel J C; Bonneau D; Pilia G; Cao A; Drabkin H; Gemmill R; Rommens J; Zelante L; Gasparini P; Bisceglia L
A YAC contig spanning the blepharophimosis-ptosis-epicanthus inversus syndrome and propionic acidemia loci.
European journal of human genetics : EJHG 1997;5(3):171-4.
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1997: Putzolu M; Meloni A; Loche S; Pischedda C; Cao A; Moi P
A homozygous nonsense mutation of the human growth hormone receptor gene in a Sardinian boy with Laron-type dwarfism.
Journal of endocrinological investigation 1997;20(5):286-8.
-
1997: Murru S; Pani L; Poddie D; Gessa G; Cao A; Pirastu M
Rat tyrosine hydroxylase gene polymorphisms.
Brain research. Molecular brain research 1997;45(2):345-8.
-
1997: Zedda N; Onnis E; Angius A; Balata F; Cherchi P A; Sole G; Olla N; Poddie D; Cao A; Cherchi A; Pirastu M
[Does a genetic predisposition for infarction expansion exist? Evaluation of genetic polymorphisms of the renin-angiotensin system]
Cardiologia (Rome, Italy) 1997;42(3):281-5.
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1997: Rosatelli M C; Meloni A; Faa V; Saba L; Crisponi G; Clemente M G; Meloni G; Piga M T; Cao A
Molecular analysis of patients of Sardinian descent with Crigler-Najjar syndrome type I.
Journal of medical genetics 1997;34(2):122-5.
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1997: Galanello R; Paleari R; Perseu L; Barella S; Maccioni L; Cao A; Mulas G; Cocco E; Mosca A
Hb Puttelange [beta 140(H19)Ala-->Val] in an Italian man with polycythemia.
Hemoglobin 1997;21(1):17-26.
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1996: Congia M; Clemente M G; Dessi C; Cucca F; Mazzoleni A P; Frau F; Lampis R; Cao A; Lai M E; De Virgiliis S
HLA class II genes in chronic hepatitis C virus-infection and associated immunological disorders.
Hepatology (Baltimore, Md.) 1996;24(6):1338-41.
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1996: Loudianos G; Dessì V; Angius A; Lovicu M; Loi A; Deiana M; Akar N; Vajro P; Figus A; Cao A; Pirastu M
Wilson disease mutations associated with uncommon haplotypes in Mediterranean patients.
Human genetics 1996;98(6):640-2.
-
1996: Fossarello M; Bertini C; Galantuomo M S; Cao A; Serra A; Pirastu M
Deletion in the peripherin/RDS gene in two unrelated Sardinian families with autosomal dominant butterfly-shaped macular dystrophy.
Archives of ophthalmology 1996;114(4):448-56.
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1996: Cao A; Galanello R; Rosatelli M C; Argiolu F; De Virgiliis S
Clinical experience of management of thalassemia: the Sardinian experience.
Seminars in hematology 1996;33(1):66-75.
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1996: Fossarello M; Zucca I; Galantuomo S; Serra A; Pirastu M; Loi A; Sole G; Cao A
Genetic mapping of autosomal dominant primary open-angle glaucoma (POAG) in Sardinia.
International ophthalmology 1996;20(1-3):1-5.
-
1996: Meloni A; Meloni A; Cao A; Rosatelli M C
New frameshift mutation in the DAX-1 gene in a patient with X-linked adrenal hypoplasia and hypogonadotropic hypogonadism.
Human mutation 1996;8(2):183-4.
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1996: Cocco S; Meloni A; Marini M G; Cao A; Moi P
A missense (T577I) mutation in the luteinizing hormone receptor gene associated with familial male-limited precocious puberty.
Human mutation 1996;7(2):164-6.
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1996: Cao A; Rosatelli M C; Galanello R
Control of beta-thalassaemia by carrier screening, genetic counselling and prenatal diagnosis: the Sardinian experience.
Ciba Foundation symposium 1996;197():137-51; discussion 151-5.
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1995: Ristaldi M S; Cao A; Casula S
In vitro expression of the --87 beta-globin thalassemic mutations.
Blood 1995;86(5):2055-6.
-
1995: Leoni G B; Pitzalis S; Podda R; Zanda M; Silvetti M; Caocci L; Cao A; Rosatelli M C
A specific cystic fibrosis mutation (T3381) associated with the phenotype of isolated hypotonic dehydration.
The Journal of pediatrics 1995;127(2):281-3.
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1995: Cucca F; Lampis R; Frau F; Macis D; Angius E; Masile P; Chessa M; Frongia P; Silvetti M; Cao A; De Virgiliis S; Congia M
The distribution of DR4 haplotypes in Sardinia suggests a primary association of type I diabetes with DRB1 and DQB1 loci.
Human immunology 1995;43(4):301-8.
-
1995: Rosatelli M C; Faà V; Meloni A; Fiorenza F; Galanello R; Gasperini D; Amendola G; Cao A
A promoter mutation, C-->T at position -92, leading to silent beta-thalassaemia.
British journal of haematology 1995;90(2):483-5.
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1995: Pischedda C; Cocco S; Melis A; Marini M G; Kan Y W; Cao A; Moi P
Isolation of a differentially regulated splicing isoform of human NF-E2.
Proceedings of the National Academy of Sciences of the United States of America 1995;92(8):3511-5.
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1995: Cazzola M; De Stefano P; Ponchio L; Locatelli F; Beguin Y; Dessi C; Barella S; Cao A; Galanello R
Relationship between transfusion regimen and suppression of erythropoiesis in beta-thalassaemia major.
British journal of haematology 1995;89(3):473-8.
-
1995: Monni G; Ibba R M; Olla G; Cao A; Crisponi G
Color Doppler ultrasound and prenatal diagnosis of cleft palate.
Journal of clinical ultrasound : JCU 1995;23(3):189-91.
-
1994: Rosatelli M C; Pischedda A; Meloni A; Saba L; Pomo A; Travi M; Fattore S; Cao A
Homozygous beta-thalassaemia resulting in the beta-thalassaemia carrier state phenotype.
British journal of haematology 1994;88(3):562-5.
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1994: Galanello R; Gasperini D; Perseu L; Barella S; Ideo A; Cao A
Hb A2-Sant' Antioco [alpha 2 delta (2)93(F9)Cys-->Gly]: a new delta chain variant identified by sequencing of amplified DNA.
Hemoglobin 1994;18(6):437-9.
-
1994: Moi P; Chan K; Asunis I; Cao A; Kan Y W
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 beta-globin locus control region.
Proceedings of the National Academy of Sciences of the United States of America 1994;91(21):9926-30.
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1994: Loudianos G; Figus A L; Loi A; Angius A; Dessì V; Deiana M; De Virgiliis S; Monni G; Cao A; Pirastu M
Improvement of prenatal diagnosis of Wilson disease using microsatellite markers.
Prenatal diagnosis 1994;14(10):999-1002.
-
1994: Ibba R M; Monni G; Olla G; Cao A
Umbilical artery velocity waveforms before and after chorionic villus sampling.
Prenatal diagnosis 1994;14(9):799-802.
-
1994: Faà V; Ventruto M L; Loche S; Bozzola M; Podda R; Cao A; Rosatelli M C
Mutations in the vasopressin V2-receptor gene in three families of Italian descent with nephrogenic diabetes insipidus.
Human molecular genetics 1994;3(9):1685-6.
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1994: Boccone L; Meloni A; Falchi A M; Usai V; Cao A
Blepharophimosis, ptosis, epicanthus inversus syndrome, a new case associated with de novo balanced autosomal translocation [46,XY,t(3;7)(q23;q32)].
American journal of medical genetics 1994;51(3):258-9.
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1994: Cucca F; Frau F; Lampis R; Floris M; Argiolas L; Macis D; Cao A; De Virgiliis S; Congia M
HLA-DQB1*0305 and -DQB1*0304 alleles among Sardinians. Evolutionary and practical implications for oligotyping.
Human immunology 1994;40(2):143-9.
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1994: Congia M; Cucca F; Frau F; Lampis R; Melis L; Clemente M G; Cao A; De Virgiliis S
A gene dosage effect of the DQA1*0501/DQB1*0201 allelic combination influences the clinical heterogeneity of celiac disease.
Human immunology 1994;40(2):138-42.
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1994: Cao A; Galanello R; Rosatelli M C
Genotype-phenotype correlations in beta-thalassemias.
Blood reviews 1994;8(1):1-12.
-
1994: Cao A
1993 William Allan award address.
American journal of human genetics 1994;54(3):397-402.
-
1994: Meloni A; Boccone L; Angius L; Loche S; Falchi A M; Cao A
Hypothalamic growth hormone deficiency in a patient with ring chromosome 18.
European journal of pediatrics 1994;153(2):110-2.
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1994: Palomba M L; Monni G; Lai R; Cau G; Olla G; Cao A
Psychological implications and acceptability of preimplantation diagnosis.
Human reproduction (Oxford, England) 1994;9(2):360-2.
-
1994: Lai M E; Mazzoleni A P; Argiolu F; De Virgilis S; Balestrieri A; Purcell R H; Cao A; Farci P
Hepatitis C virus in multiple episodes of acute hepatitis in polytransfused thalassaemic children.
Lancet 1994;343(8894):388-90.
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1994: Galanello R; Barella S; Turco M P; Giagu N; Cao A; Dore F; Liberato N L; Guarnone R; Barosi G
Serum erythropoietin and erythropoiesis in high- and low-fetal hemoglobin beta-thalassemia intermedia patients.
Blood 1994;83(2):561-5.
-
1994: Oggiano L; Guiso L; Frogheri L; Loudianos G; Pistidda P; Rimini E; Pirastu M; Cao A; Longinotti M
A novel Mediterranean "delta beta-thalassemia" determinant containing the delta (+) 27 and beta (0) 39 point mutations in cis.
American journal of hematology 1994;45(1):81-4.
-
1994: Gasperini D; Perseu L; Cossu P; Podda R; Cao A; Galanello R
A novel delta O-thalassemia mutation: TGG-->TAG (TRP-->STOP) at codon 37.
Human mutation 1994;3(1):71-2.
-
1994: Meloni A; Demurtas M; Moi L; Faà V; Cao A; Rosatelli M C
A novel beta-thalassemia mutation: frameshift at codon 59 detected in an Italian carrier.
Human mutation 1994;3(3):309-11.
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1993: Saba L; Leoni G B; Meloni A; Faà V; Cao A; Rosatelli M C
Two novel mutations in the transmembrane domains of the CFTR gene in subjects of Sardinian descent.
Human molecular genetics 1993;2(10):1739-40.
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1993: Muntoni F; Cau M; Ganau A; Congiu R; Arvedi G; Mateddu A; Marrosu M G; Cianchetti C; Realdi G; Cao A
Brief report: deletion of the dystrophin muscle-promoter region associated with X-linked dilated cardiomyopathy.
The New England journal of medicine 1993;329(13):921-5.
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1993: Muntoni F; Cau M; Congiu R; Congia M; Cao A; Melis M A
Identification of a novel T-insertion polymorphism at the DMD locus.
Human genetics 1993;92(1):103.
-
1993: Cucca F; Muntoni F; Lampis R; Frau F; Argiolas L; Silvetti M; Angius E; Cao A; De Virgiliis S; Congia M
Combinations of specific DRB1, DQA1, DQB1 haplotypes are associated with insulin-dependent diabetes mellitus in Sardinia.
Human immunology 1993;37(2):85-94.
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1993: Melis M A; Cau M; Congiu R; Puddu R; Muntoni F; Cao A
Germinal mosaicism in a Duchenne muscular dystrophy family: implications for genetic counselling.
Clinical genetics 1993;43(5):247-9.
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1993: Gasperini D; Cao A; Paderi L; Barella S; Paglietti E; Perseu L; Loi D; Galanello R
Normal individuals with high Hb A2 levels.
British journal of haematology 1993;84(1):166-8.
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1993: Cucca F; Muntoni F; Lampis R; Frau F; Cao A; De Virgiliis S; Congia M
A novel HLA-DQB1 allele: evidence for gene conversion event promoted by chi-like sequence at DQB1 locus.
Tissue antigens 1993;41(5):263-6.
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1993: Murru S; Pischedda M C; Cao A; Rosatelli M C; Pirastu M; Sciarratta G V; Manca L; Gallisai D; Toffoli C
A promoter mutation of the beta-globin gene (-101 C-->T) has an age-related expression pattern.
Blood 1993;81(10):2818-9.
-
1993: Galanello R; Meloni A; Gasperini D; Saba L; Cao A; Rosatelli M C; Perseu L
The repeated sequence (AT)x(T)y upstream to the beta-globin gene is a simple polymorphism.
Blood 1993;81(7):1974-5.
-
1993: Cao A; Rosatelli M C
Screening and prenatal diagnosis of the haemoglobinopathies.
Baillière's clinical haematology 1993;6(1):263-86.
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1993: Muntoni F; Mateddu A; Cianchetti C; Marrosu M G; Clerk A; Cau M; Congiu R; Cao A; Melis M A
Dystrophin analysis using a panel of anti-dystrophin antibodies in Duchenne and Becker muscular dystrophy.
Journal of neurology, neurosurgery, and psychiatry 1993;56(1):26-31.
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1993: Monni G; Ibba R M; Lai R; Cau G; Mura S; Olla G; Rosatelli C; Cao A
Early transabdominal chorionic villus sampling in couples at high genetic risk.
American journal of obstetrics and gynecology 1993;168(1 Pt 1):170-3.
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1993: Muntoni F; Mateddu A; Cau M; Congiu R; Puddu R; Cossu P; Cao A; Melis M A
Diagnosis of DMD carrier status in a family with no known affected males.
Developmental medicine and child neurology 1993;35(1):70-3.
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1993: Leoni G B; Rosatelli M C; Cossu G; Pischedda M C; De Virgiliis S; Cao A
A novel cystic fibrosis mutation: deletion of seventeen nucleotides at the exon 10-intron 10 boundary of the CFTR gene, in a Sardinian patient.
Human molecular genetics 1993;2(1):83-4.
-
1993: Loudianos G; Porcu S; Cossu P; Tannoia N; Vitucci A; Campanale D; Cao A; Pirastu M
A new delta-chain variant hemoglobin A2-Puglia or alpha 2 delta 2 26 Glu-->Asp (B8), detected by DNA analysis in a family of southern Italian origin.
Human mutation 1993;2(4):327-9.
-
1992: Faà V; Rosatelli M C; Sardu R; Meloni A; Toffoli C; Cao A
A simple electrophoretic procedure for fetal diagnosis of beta-thalassaemia due to short deletions.
Prenatal diagnosis 1992;12(11):903-8.
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1992: Monni G; Ibba R M; 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 1992;12(10):815-20.
-
1992: Gasperini D; Galanello R; Melis M A; Iannelli S; Giordano P; Bernini L F; Cao A
Hemoglobin Sabine [beta 91 (F7) Leu-->Pro]: occurrence in a Sardinian individual with hemolytic anemia and inclusion bodies.
Haematologica 1992;77(5):381-3.
-
1992: Loudianos G; Cao A; Pirastu M
Feasibility of prenatal diagnosis of beta-thalassemia using two highly polymorphic microsatellites 5' to the beta-globin gene.
Haematologica 1992;77(4):361-2.
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1992: Muntoni F; Mateddu A; Marrosu M G; Cau M; Congiu R; Melis M A; Cao A; Cianchetti C
Variable dystrophin expression in different muscles of a Duchenne muscular dystrophy carrier.
Clinical genetics 1992;42(1):35-8.
-
1992: 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.
The New England journal of medicine 1992;327(1):57.
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1992: Murru S; Loudianos G; Porcu S; Sciarratta G V; Agosti S; Parodi M I; Cao A; Pirastu M
A beta-thalassaemia phenotype not linked to the beta-globin cluster in an Italian family.
British journal of haematology 1992;81(2):283-7.
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1992: 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 1992;39(5):262-5.
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1992: Romao L; Cash F; Weiss I; Liebhaber S; Pirastu M; Galanello R; Loi A; Paglietti E; Ioannou P; Cao A
Human alpha-globin gene expression is silenced by terminal truncation of chromosome 16p beginning immediately 3' of the zeta-globin gene.
Human genetics 1992;89(3):323-8.
-
1992: Cao A; Leoni G B; Sardu R; Pischedda M C; Saba L
Prenatal diagnosis of inherited hemoglobinopathies.
Recenti progressi in medicina 1992;83(4):224-32.
-
1992: Cianchetti C; Muntoni F; Falchi A M; Nucaro A; Sannio-Fancello G; Cao A; Marrosu M G
X-linked mental retardation and characteristic physical features in two brothers with duplication Xp22-Xpter.
American journal of medical genetics 1992;43(1-2):475-8.
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1992: Rosatelli M C; Altay C; Oner R; Leoni G B; Moi B; Atzori G; Cao A
Beta-globin haplotype and XmnI polymorphism at position G (gamma)-158 and HbF production in Fanconi's anemia.
Haematologica 1992;77(2):106-9.
-
1992: Rosatelli M C; Dozy A; Faà V; Meloni A; Sardu R; Saba L; Kan Y W; Cao A
Molecular characterization of beta-thalassemia in the Sardinian population.
American journal of human genetics 1992;50(2):422-6.
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1992: Rosatelli C; Leoni G B; Tuveri T; Scalas M T; Mosca A; Galanello R; Gasperini D; Cao A
Heterozygous beta-thalassemia: relationship between the hematological phenotype and the type of beta-thalassemia mutation.
American journal of hematology 1992;39(1):1-4.
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1992: Moi P; Loudianos G; Lavinha J; Murru S; Cossu P; Casu R; Oggiano L; Longinotti M; Cao A; Pirastu M
Delta-thalassemia due to a mutation in an erythroid-specific binding protein sequence 3' to the delta-globin gene.
Blood 1992;79(2):512-6.
-
1992: Loudianos G; Moi P; Lavinha J; Galanello R; Cao A; Pirastu M
Normal delta-globin gene sequences in Sardinian nondeletional delta beta-thalassemia.
Hemoglobin 1992;16(6):503-9.
-
1992: Saba L; Meloni A; Sardu R; Travi M; Primignani P; Rosatelli M C; Cao A
A novel beta-thalassemia mutation (G-->A) at the initiation codon of the beta-globin gene.
Human mutation 1992;1(5):420-2.
-
1992: Loudianos G; Murru S; Ristaldi M S; Cossu P; Pilia G; Porcu S; Sciarratta G V; Parodi M I; Cao A; Pirastu M
A novel delta-thalassemia mutation A G-->C substitution at codon 30 of the delta-globin gene in a person of southern Italian origin.
Human mutation 1992;1(2):169-71.
-
1992: Murru S; Poddie D; Sciarratta G V; Agosti S; Baffico M; Melevendi C; Pirastu M; Cao A
A novel beta-globin structural mutant, Hb Brescia (beta 114 Leu-Pro), causing a severe beta-thalassemia intermedia phenotype.
Human mutation 1992;1(2):124-8.
-
1991: Galanello R; Monne M I; Paderi L; Paglietti E; Atzori G; Addis M; Limongelli O; Macciotta A; Cao A
Homozygous non-deletion alpha 2 globin gene mutation (initiation codon mutation): clinical and haematological phenotype.
British journal of haematology 1991;79(1):117-9.
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1991: Loudianos G; Murru S; Kanavakis E; Metaxotou-Mavromati A; Theodoropoulou D; Kattamis C; Cao A; Pirastu M
A new delta chain variant hemoglobin A2-Corfu or alpha 2 delta 2 116 Arg----Cys (G18), detected by delta-globin gene analysis in a Greek family.
Human genetics 1991;87(2):237-8.
-
1991: Argiolu F; Diana G; Avignone A; Cao A; Di Ninni S
Hearing impairment during deferoxamine therapy for thalassemia major.
The Journal of pediatrics 1991;118(5):826-7.
-
1991: Murru S; Loudianos G; Deiana M; Camaschella C; Sciarratta G V; Agosti S; Parodi M I; Cerruti P; Cao A; Pirastu M
Molecular characterization of beta-thalassemia intermedia in patients of Italian descent and identification of three novel beta-thalassemia mutations.
Blood 1991;77(6):1342-7.
-
1991: Podda A; Galanello R; Maccioni L; Melis M A; Rosatelli C; Perseu L; Cao A
Hemoglobin Cagliari (beta 60 [E4] Val----Glu): a novel unstable thalassemic hemoglobinopathy.
Blood 1991;77(2):371-5.
-
1991: Cao A; Rosatelli C; Pirastu M; Galanello R
Thalassemias in Sardinia: molecular pathology, phenotype-genotype correlation, and prevention.
The American journal of pediatric hematology/oncology 1991;13(2):179-88.
-
1991: Monni G; Useli C; Ibba R M; Lai R; Olla G; Cao A
Early antenatal sonographic diagnosis of conjoined syncephalus-craniothoraco-omphalopagus twins. Case report.
Journal of perinatal medicine 1991;19(6):489-92.
-
1991: Leoni G B; Rosatelli C; Vitucci A; Addis M; Loi A; Tannoia N; Cao A
Molecular basis of beta-thalassemia intermedia in a southern Italian region (Puglia).
Acta haematologica 1991;86(4):174-8.
-
1990: Galanello R; Sanna M A; Maccioni L; Gasperini D; Melis M A; Rosatelli C; Monni G; Cao A
Fetal hydrops in Sardinia: implications for genetic counselling.
Clinical genetics 1990;38(5):327-31.
-
1990: Murru S; Loudianos G; Cao A; Vaccargiu S; Pirastu M; Sciarratta G V; Agosti S; Parodi M I
A beta-thalassemia carrier with normal sequence within the beta-globin gene.
Blood 1990;76(10):2164-5.
-
1990: Leoni G B; Rosatelli C; Sardu R; Scarpa G; Silvetti M; Cao A
Molecular bases for cystic fibrosis in the Sardinian population.
Human genetics 1990;85(4):415.
-
1990: Cao A; Pirastu M; Rosatelli C
Prenatal diagnosis of inherited hemoglobinopathies.
Haematologica 1990;75 Suppl 5():169-77.
-
1990: 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 1990;75(4):397-9.
-
1990: Galanello R; Turco M P; Barella S; Giagu N; Dessì C; Cornacchia G; Cao A
Iron stores and iron deficiency anemia in children heterozygous for beta-thalassemia.
Haematologica 1990;75(4):319-22.
-
1990: 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 1990;7(1):115-8.
-
1990: Rosatelli M C; Sardu R; Tuveri T; Scalas M T; 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 1990;27(4):249-51.
-
1990: Galanello R; Melis M A; Podda A; Monne M; Perseu L; Loudianos G; Cao A; Pirastu M; Piga A
Deletion delta-thalassemia: the 7.2 kb deletion of Corfu delta beta-thalassemia in a non-beta-thalassemia chromosome.
Blood 1990;75(8):1747-9.
-
1990: Ristaldi M S; Pirastu M; Murru S; Casula L; Loudianos G; Cao A; Sciarratta G V; Agosti S; Parodi M I; Leone D
A spontaneous mutation produced a novel elongated beta-globin chain structural variant (Hb Agnana) with a thalassemia-like phenotype.
Blood 1990;75(6):1378-9.
-
1990: Monni G; Olla G; Rosatelli C; Cao A
Second-trimester placental biopsy versus amniocentesis for prenatal diagnosis of beta-thalassemia.
The New England journal of medicine 1990;322(1):60-1.
-
1990: Loudianos G; Cao A; Ristaldi M S; Pirastu M; Tzeti M; Kannavakis E; Kattamis C
Molecular basis of delta beta-thalassemia with normal fetal hemoglobin level.
Blood 1990;75(2):526-8.
-
1990: Pirastu M; Ristaldi M S; Loudianos G; Murru S; Sciarratta G V; Parodi M I; Leone D; Agosti S; Cao A
Molecular analysis of atypical beta-thalassemia heterozygotes.
Annals of the New York Academy of Sciences 1990;612():90-7.
-
1990: Cao A; Rosatelli M C; Leoni G B; Tuveri T; Scalas M T; Monni G; Olla G; Galanello R
Antenatal diagnosis of beta-thalassemia in Sardinia.
Annals of the New York Academy of Sciences 1990;612():215-25.
-
1990: Argiolu F; Diana G; Arnone M; Batzella M G; Piras P; Cao A
High-dose intravenous immunoglobulin in the management of autoimmune hemolytic anemia complicating thalassemia major.
Acta haematologica 1990;83(2):65-8.
-
1989: Cao A; Rosatelli C; Galanello R; Ristaldi M S
Prenatal diagnosis of inherited hemoglobinopathies.
Indian journal of pediatrics 1989;56(6):707-17.
-
1989: Cao A; Rosatelli C; Galanello R; Monni G; Olla G; Cossu P; Ristaldi M S
The prevention of thalassemia in Sardinia.
Clinical genetics 1989;36(5):277-85.
-
1989: Ristaldi M S; Pirastu M; Rosatelli C; Monni G; Erlich H; Saiki R; Cao A
Prenatal diagnosis of beta-thalassaemia in Mediterranean populations by dot blot analysis with DNA amplification and allele specific oligonucleotide probes.
Prenatal diagnosis 1989;9(9):629-38.
-
1989: Galanello R; Barella S; Maccioni L; Paglietti E; Melis M A; Rosatelli M C; Argiolu F; Cao A
Erythropoiesis following bone marrow transplantation from donors heterozygous for beta-thalassaemia.
British journal of haematology 1989;72(4):561-6.
-
1989: Perseu L; Ristaldi M S; Dibenedetto S P; Testa R; Schilirò G; Pirastu M; Cao A
The effect of the beta thalassemia mutation on the clinical severity of the sickle beta thalassemia syndrome.
Haematologica 1989;74(4):341-5.
-
1989: Pirastu M; Ristaldi M S; Cao A
Prenatal diagnosis of beta thalassaemia based on restriction endonuclease analysis of amplified fetal DNA.
Journal of medical genetics 1989;26(6):363-7.
-
1989: Cao A; Murru S
Molecular pathology and detection of beta-thalassemias.
Progress in clinical and biological research 1989;309():3-11.
-
1989: Galanello R; Podda A; Melis M A; Monne M; Cao A
Interaction between deletion delta-thalassemia and beta zero-thalassemia (codon 39 nonsense mutation) in a Sardinian family.
Progress in clinical and biological research 1989;316B():113-21.
-
1988: Rosatelli M C; Tuveri T; Scalas M T; Di Tucci A; Leoni G B; Furbetta M; Monni G; Cao A
Prenatal diagnosis of beta thalassaemia by oligonucleotide analysis in Mediterranean populations.
Journal of medical genetics 1988;25(11):762-5.
-
1988: Nucaro A; Falchi A M; Monni G; Cao A
Pseudomosaic centric fission of chromosome 4 in amniotic cells.
Prenatal diagnosis 1988;8(8):629-31.
-
1988: Galanello R; Paglietti E; Melis M A; Crobu M G; Addis M; Moi P; Cao A
Interaction of heterozygous beta zero-thalassemia with single functional alpha-globin gene.
American journal of hematology 1988;29(2):63-6.
-
1988: Cao A; Pirastu M; Ristaldi M S; Leoni G B; Monni G; Rosatelli M C
Prenatal diagnosis of beta-thalassemia in Italian population.
Haematologica 1988;73(5):331-41.
-
1988: Moi P; Paglietti E; Sanna A; Brancati C; Tagarelli A; Galanello R; Cao A; Pirastu M
Delineation of the molecular basis of delta- and normal HbA2 beta-thalassemia.
Blood 1988;72(2):530-3.
-
1988: Monni G; Ibba R M; Olla G; Rosatelli C; Cao A
Prenatal diagnosis of beta-thalassaemia by second-trimester chorionic villus sampling.
Prenatal diagnosis 1988;8(6):447-51.
-
1988: Rosatelli C; Schettini F; Monni G; Tuveri T; Scalas M T; Di Tucci A; Leoni G B; Cao A
Problems in prenatal diagnosis of beta-thalassaemia by fetal blood analysis: beta-chain variant comigrating with gamma chains.
Prenatal diagnosis 1988;8(5):393-7.
-
1988: Monni G; Olla G; Cao A
Patient's choice between transcervical and transabdominal chorionic villus sampling.
Lancet 1988;1(8593):1057.
-
1988: Manconi P E; Dessí 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 1988;147(3):304-7.
-
1988: Galanello R; Paglietti M E; Addis M; Melis M A; Tuveri T; Furbetta M; Cao A
Pitfalls in genetic counselling for beta-thalassemia: an individual with 4 different thalassemia mutations.
Clinical genetics 1988;33(3):151-5.
-
1988: De Virgiliis S; Congia M; Turco M P; 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 1988;63(3):250-5.
-
1988: Cao A; Rosatelli C
Control of beta-thalassemia in Sardinia.
Birth defects original article series 1988;23(5B):395-404.
-
1988: Cao A
Diagnosis of beta-thalassemia intermedia at presentation.
Birth defects original article series 1988;23(5B):219-26.
-
1988: Oggiano L; Dore F; Pistidda P; Guiso L; Manca L; Masala B; Pirastu M; Rosatelli C; Cao A; Longinotti M
Homozygous beta zero-39 mutation with thalassemia intermedia in northern Sardinia: clinical, hematological and molecular analysis.
Hemoglobin 1988;12(5-6):673-80.
-
1987: Moi P; Cash F E; Liebhaber S A; Cao A; Pirastu M
An initiation codon mutation (AUG----GUG) of the human alpha 1-globin gene. Structural characterization and evidence for a mild thalassemic phenotype.
The Journal of clinical investigation 1987;80(5):1416-21.
-
1987: Oggiano L; Pirastu M; Moi P; Longinotti M; Perseu L; Cao A
Molecular characterization of a normal Hb A2 beta-thalassaemia determinant in a Sardinian family.
British journal of haematology 1987;67(2):225-9.
-
1987: Cao A; Cossu P; Monni G; Rosatelli M C
Chorionic villus sampling and acceptance rate of prenatal diagnosis.
Prenatal diagnosis 1987;7(7):531-3.
-
1987: Falchi A M; Orofino M G; Nucaro A L; De Virgiliis S; Cao A
Acute lymphoblastic leukemia in a child with constitutional ring chromosome 21.
Cancer genetics and cytogenetics 1987;27(2):219-24.
-
1987: Monni G; Ibba R M; 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 and gynecology 1987;156(4):912-4.
-
1987: Rosatelli C; Leoni G B; Tuveri T; Scalas M T; Di Tucci A; Cao A
Beta thalassaemia mutations in Sardinians: implications for prenatal diagnosis.
Journal of medical genetics 1987;24(2):97-100.
-
1986: Maccioni L; Galanello R; Ruggeri R; Puddu R; Rosatelli D; Marras A; Chiappe S; Macciotta A; Cao A
Alpha-thalassemia in premature newborns.
Pediatric research 1986;20(11):1077-81.
-
1986: Rosatelli C; Maccioni L; Scalas M T; Cao A
Pitfalls in prenatal diagnosis of beta thalassaemia.
Journal of medical genetics 1986;23(5):456-8.
-
1986: Paglietti E; Galanello R; Moi P; Pirastu M; Cao A
Molecular pathology of haemoglobin H disease in Sardinians.
British journal of haematology 1986;63(3):485-96.
-
1986: Cao A; Falchi A M; Tuveri T; Scalas M T; Monni G; Rosatelli C
Prenatal diagnosis of thalassemia major by fetal blood analysis: experience with 1000 cases.
Prenatal diagnosis 1986;6(3):159-67.
-
1986: Monni G; Rosatelli C; Falchi A M; Scalas M T; Addis M; Maccioni L; di Tucci A; Tuveri T; Cao A
First trimester diagnosis of beta-thalassaemia in a twin pregnancy.
Prenatal diagnosis 1986;6(1):63-8.
-
1985: Paglietti E; Galanello R; Addis M; Cao A
Genetic counseling and genetic heterogeneity in the thalassemias.
Clinical genetics 1985;28(1):1-7.
-
1985: Galanello R; Paglietti E; Giagu N; Melis M A; Scalas M T; Cao A
Hematological phenotype of carriers of deletion alpha-thalassemia according to the alpha-globin genotype.
Haematologica 1985;70(3):191-8.
-
1985: Rosatelli C; Falchi A M; Tuveri T; Scalas M T; Di Tucci A; Monni G; Cao A
Prenatal diagnosis of beta-thalassaemia with the synthetic-oligomer technique.
Lancet 1985;1(8423):241-3.
-
1985: De Virgiliis S; Frau F; Sanna G; Turco M P; Figus A L; Cornacchia G; Cao A
Perinatal hepatitis B virus detection by hepatitis B virus-DNA analysis.
Archives of disease in childhood 1985;60(1):56-8.
-
1985: Cao A; Cossu P; Falchi A M; Monni G; Pirastu M; Rosatelli C; Scalas M T; Tuveri T
Antenatal diagnosis of thalassemia major in Sardinia.
Annals of the New York Academy of Sciences 1985;445():380-92.
-
1984: Galanello R; Maccioni L; Ruggeri R; Perseu L; Cao A
Alpha thalassaemia in Sardinian newborns.
British journal of haematology 1984;58(2):361-8.
-
1984: Cao A; Pintus L; Lecca U; Olla G; Cossu P; Rosatelli C; Galanello R
Control of homozygous beta-thalassemia by carrier screening and antenatal diagnosis in Sardinians.
Clinical genetics 1984;26(1):12-22.
-
1984: Figus A; Blum H E; Vyas G N; De Virgilis 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 (Baltimore, Md.) 1984;4(3):364-8.
-
1984: Galanello R; Maccioni L; Rosatelli M C; Ibba P; Nurchi A M; Cao A
A genetic combination of silent beta-thalassaemia, high Hb A2 beta-thalassaemia, and single alpha globin gene deletion causing mild thalassaemia intermedia.
Journal of medical genetics 1984;21(2):153-6.
-
1984: Galanello R; Melis M A; Maccioni L; Pirastu M; Cao A
Longitudinal study of a newborn with a combination of deletion and nondeletion alpha-thalassemia-2.
Pediatric research 1984;18(2):158-62.
-
1984: Maccioni L; Galanello R; Melis M A; Cao A
Hemoglobin constitution of double heterozygotes for alpha or beta-thalassemia and Hb J Sardegna.
Hemoglobin 1984;8(5):497-507.
-
1984: Rosatelli C; Falchi A M; Scalas M T; Tuveri T; Furbetta M; Cao A
Hematological phenotype of the double heterozygous state for alpha and beta thalassemia.
Hemoglobin 1984;8(1):25-35.
-
1984: Rosatelli C; Falchi A M; Scalas M T; Tuveri T; Cao A
Developmental pattern of beta-chain production at midtrimester pregnancy in Sardinian beta o-thalassemia heterozygotes.
Hemoglobin 1984;8(1):17-24.
-
1983: Galanello R; Pirastu M; Melis M A; Paglietti E; Moi P; Cao A
Phenotype-genotype correlation in haemoglobin H disease in childhood.
Journal of medical genetics 1983;20(6):425-9.
-
1983: Galanello R; Ruggeri R; Paglietti E; Addis M; Melis M A; Cao A
A family with segregating triplicated alpha globin loci and beta thalassemia.
Blood 1983;62(5):1035-40.
-
1983: Furbetta M; Tuveri T; Rosatelli C; Angius A; Falchi A M; Cossu P; Meloni A; Giagu N; Cao A
Molecular mechanism accounting for milder types of thalassemia major.
The Journal of pediatrics 1983;103(1):35-9.
-
1983: 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.
The American journal of pediatric hematology/oncology 1983;5(1):73-7.
-
1983: Cianchetti C; Marrosu M G; Manconi P E; Loi M; Cao A
Subacute sclerosing panencephalitis in only one of identical twins. Case report with study of cell-mediated immunity.
European neurology 1983;22(6):428-32.
-
1983: Galanello R; Melis M A; Paglietti E; Cornacchia G; de Virgiliis S; Cao A
Serum ferritin levels in hemoglobin H disease.
Acta haematologica 1983;69(1):56-8.
-
1982: Pirastu M; Lee K Y; Dozy A M; Kan Y W; Stamatoyannopoulos G; Hadjiminas M G; Zachariades Z; Angius A; Furbetta M; Rosatelli C; Cao A
Alpha-thalassemia in two Mediterranean populations.
Blood 1982;60(2):509-12.
-
1982: Cao A; Melis M A; Galanello R; Angius A; Furbetta M; Giordano P; Bernini L F
Delta beta (F)-thalassaemia in Sardinia.
Journal of medical genetics 1982;19(3):184-92.
-
1982: Cao A; Furbetta M; Angius A; Ximenes A; Rosatelli C; Tuveri T; Scalas M T; Falchi A M; Angioni G; Caminiti F
Haematological and obstetric aspects of antenatal diagnosis of beta-thalassaemia: experience with 200 cases.
Journal of medical genetics 1982;19(2):81-7.
-
1982: Cao A; Furbetta M; Galanello R; Melis M A; Angius A; Rosatelli C; Ruggeri R; Addis M; Tuveri T; Falchi A M; Maccioni L; Paglietti E; Scalas M T
Control of homozygous beta-thalassemia by carrier screening and antenatal diagnosis in Sardinia.
Birth defects original article series 1982;18(7):303-11.
-
1982: 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 1982;18(7):355-60.
-
1982: 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 1982;67(1):49-56.
-
1981: Furbetta M; Angius A; Falchi A M; Tuveri T; Tannoia; Pertosa A P; Cao A
Prenatal diagnosis of thalassaemia major resulting from Lepore/ beta-thalassaemia genotype.
Journal of medical genetics 1981;18(6):476-8.
-
1981: 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 beta-thalassemia intermedia.
European journal of pediatrics 1981;137(3):267-71.
-
1981: 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 1981;15(11):1443-6.
-
1981: Trecartin R F; Liebhaber S A; Chang J C; Lee K Y; Kan Y W; Furbetta M; Angius A; Cao A
beta zero thalassemia in Sardinia is caused by a nonsense mutation.
The Journal of clinical investigation 1981;68(4):1012-7.
-
1981: Cao A; Furbetta M; Galanello R; Melis M A; Angius A; Ximenes A; Rosatelli C; Ruggeri R; Addis M; Tuveri T; Falchi A M; Paglietti E; Scalas M T
Prevention of homozygous beta-thalassemia by carrier screening and prenatal diagnosis in Sardinia.
American journal of human genetics 1981;33(4):592-605.
-
1981: Galanello R; Melis M A; Ruggeri R; Cao A
Prospective study of red blood cell indices, hemoglobin A2, and hemoglobin F in infants heterozygous for Beta-thalassemia.
The Journal of pediatrics 1981;99(1):105-8.
-
1981: Cao A; Furbetta M; Ximenes A; Angius A; Rosatelli C; Tuveri T; Scalas M T; Falchi A M; Maccioni L; Melis M A; Galanello R
Beta-Thalassaemia types in southern Sardinia.
Journal of medical genetics 1981;18(3):196-9.
-
1981: Cao A; Galanello R; Melis M A; Ruggeri R; Addis M; Maccioni L; Paglietti E
[Our experience in screening and genetic counseling for beta-thalassemia]
Minerva medica 1981;72(10):623-8.
-
1981: Cao A; Furbetta M; Angius A; Ximenes A; Rosatelli C; Scalas M T; Tuveri T; Falchi A M; Angioni G; Caminiti F
[Prenatal diagnosis of beta-thalassemia major using fetal blood]
Minerva medica 1981;72(10):637-46.
-
1981: Furbetta M; Angius A; Ximenes A; Rosatelli C; Scalas M T; Tuveri T; Falchi A M; Cao A
Difficulties in antenatal diagnosis of inherited haemoglobinopathies: gamma-chain variants.
British journal of haematology 1981;47(2):319-21.
-
1981: Galanello R; Ruggeri R; Addis M; Paglietti E; Cao A
Hemoglobin A2 in iron deficient beta-thalassemia heterozygotes.
Hemoglobin 1981;5(6):613-8.
-
1981: Galanello R; Melis M A; Furbetta M; Angius A; Scalas M T; Paglietti E; Cao A
Globin chain synthesis analysis in obligate beta 0-thalassemia heterozygotes with isolated increase of hemoglobin A2 levels.
Nouvelle revue française d'hématologie 1981;23(4):193-5.
-
1981: Gianni A M; 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 beta 0-thalassemia.
Hemoglobin 1981;5(4):349-56.
-
1981: Furbetta M; Angius A; Tuveri T; Rosatelli C; Scalas M T; Ximenes A; Falchi A M; Cao A
Diagnosis of the beta 0 thalassemia trait at birth.
Hemoglobin 1981;5(3):217-29.
-
1981: 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 1981;65(1):32-9.
-
1980: 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 1980;33(10):949-53.
-
1980: Galanello R; De Virgiliis S; Addis M; Paglietti E; Ruggeri R; Cao A
Haematological characteristics of the beta 0 thalassaemia trait in Sardinian children.
Journal of clinical pathology 1980;33(10):946-8.
-
1980: Galanello R; Diana G; Furbetta M; Angius A; Melis M A; Rosatelli C; Cao A
alpha-Thalassaemia in Sardinian infants.
Journal of medical genetics 1980;17(5):357-62.
-
1980: Furbetta M; Angius A; Ximenes A; Tuveri T; Rosatelli C; Scalas M T; Fais R; Cao A; Angioni G; Caminiti F
Prenatal diagnosis of beta thalassaemia by fetal red cell enrichment with NH4-Cl-NH4HCO3 differential lysis of maternal cells.
British journal of haematology 1980;44(3):441-50.
-
1980: 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 1980;55(1):43-5.
-
1980: Kan Y W; Lee K Y; Furbetta M; Angius A; Cao A
Polymorphism of DNA sequence in the beta-globin gene region. Application to prenatal diagnosis of beta 0 thalassemia in Sardinia.
The New England journal of medicine 1980;302(4):185-8.
-
1980: Cao A; Furbetta M; Angius A; Ximenes A; Angioni G; Caminiti F
Prenatal diagnosis of beta thalassemia: experience with 133 cases and the effect of fetal blood sampling on child development.
Annals of the New York Academy of Sciences 1980;344():165-80.
-
1980: Melis M A; Rosatelli C; Falchi A M; Angius A; Furbetta M; Galanello R; Cao A
Hematological characteristics of sardinian alpha-thalassemia carriers detected in a population study.
Acta haematologica 1980;63(1):32-6.
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