FIND

researchers

DISCOVER

relevant articles

PROMOTE

your research

now for free

Antonio Cao

Research Profile

Disorders

Chemicals & Drugs

Geographic Areas

Italy

Physiology

Procedures

Living Beings

Concepts & Ideas

Co-author Network

Publications

TOP 3
Georgios Loudianos; Eva Mameli; Antonietta Zappu; Stefano De Virgiliis; Valeria Dessì; Giovanni Garrucciu; Simona Incollu; Maria Barbara Lepori; Antonio Cao
Wilson's disease in two consecutive generations: the detection of three mutated alleles in the ATP7B gene in two Sardinian families.
Antonio Cao; Yuet Wai Kan
The prevention of thalassemia.
Maria Barbara Lepori; Vincenzo Leuzzi; GIUSEPPE MAGGIORE; Eva Mameli; Anna Maria Nurchi; Marco Sciveres; Antonietta Zappu; Paolo Angeli; Patrizia Barone; Luisa Bonafé; Antonio Cao; Carlo Casali; L Demelia; Valeria Dessì; Liana Gheorghe; Simona Incollu; Giuseppe Indolfi; Georgios Loudianos
Mutation analysis of the ATP7B gene in a new group of Wilson's disease patients: contribution to diagnosis.

Register for free to view:

Visualized networks:

See your personal network in
sophisticated graphical views

GeoTargeted Searches:

Locate experts around the world
and connect with global collaborators

Research Profiles:

See the research activity
of experts around the globe

Geonetwork of Antonio Cao (preview)

Cities where this author has publications
Cities where co-authors of this author have publications

Flash Player Required

All Publications

2013: Georgios Loudianos; Eva Mameli; Antonietta Zappu; Stefano De Virgiliis; Valeria Dessì; Giovanni Garrucciu; Simona Incollu; Maria Barbara Lepori; Antonio Cao
Wilson's disease in two consecutive generations: the detection of three mutated alleles in the ATP7B gene in two Sardinian families.
Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver 2013;45(4):342-5.
2013: Antonio Cao; Yuet Wai Kan
The prevention of thalassemia.
Cold Spring Harbor perspectives in medicine 2013;3(2):a011775.
2012: Maria Barbara Lepori; Vincenzo Leuzzi; GIUSEPPE MAGGIORE; Eva Mameli; Anna Maria Nurchi; Marco Sciveres; Antonietta Zappu; Paolo Angeli; Patrizia Barone; Luisa Bonafé; Antonio Cao; Carlo Casali; L Demelia; Valeria Dessì; Liana Gheorghe; Simona Incollu; Giuseppe Indolfi; Georgios Loudianos
Mutation analysis of the ATP7B gene in a new group of Wilson's disease patients: contribution to diagnosis.
Molecular and cellular probes 2012;26(4):147-50.
2012: Antonietta Zappu; Eva Mameli; Maria Cristina Noli; Luisa Bonafé; Antonio Cao; Stefano De Virgiliis; Valeria Dessì; Nuria Garcia Dépraz; Simona Incollu; Maria Barbara Lepori; Georgios Loudianos
Feasibility of RNA studies on illegitimate transcription for molecular characterization of splicing mutations in the ATP7B gene: a case report.
Molecular and cellular probes 2012;26(2):63-5.
2011: Luciana Perseu; Stefania Satta; Maria Carla Sollaino; Laura Manunza; Paolo Moi; Susanna Barella; Antonio Cao; Franca Rosa Demartis; Renzo Galanello
KLF1 gene mutations cause borderline HbA(2).
Blood 2011;118(16):4454-8.
2011: Simona Incollu; Raffaele Iorio; Maria Barbara Lepori; Eva Mameli; Maria Cristina Noli; Giusy Ranucci; Antonietta Zappu; Antonio Cao; Valeria Dessì; Georgios Loudianos
DNA and RNA studies for molecular characterization of a gross deletion detected in homozygosity in the NH2-terminal region of the ATP7B gene in a Wilson disease patient.
Molecular and cellular probes 2011;25(5-6):195-8.
2011: Susanna Porcu; Valeria Sogos; Isadora Asunis; Antonio Cao; Frank Grosveld; Maria F Manchinu; Maria G Marini; Maria Franca Marongiu; Paolo Moi; Daniela Poddie; Loredana Porcu; Maria Serafina Ristaldi
Klf1 affects DNase II-alpha expression in the central macrophage of a fetal liver erythroblastic island: a non-cell-autonomous role in definitive erythropoiesis.
Molecular and cellular biology 2011;31(19):4144-54.
2011: Antonio Cao; Paolo Moi; Renzo Galanello
Recent advances in β-thalassemias.
Pediatric reports 2011;3(2):e17.
2011: Alessandra Coiana; Valeria Faa'; Daniela Carta; Rosalba Puddu; Antonio Cao; Maria Cristina Rosatelli
Preconceptional identification of cystic fibrosis carriers in the Sardinian population: A pilot screening program.
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2011;10(3):207-11.
2011: Stefania Satta; Lucia Perseu; Paolo Moi; Isadora Asunis; Annalisa Cabriolu; Liliana Maccioni; Franca Rosa Demartis; Laura Manunza; Antonio Cao; Renzo Galanello
Compound heterozygosity for KLF1 mutations associated with remarkable increase of fetal hemoglobin and red cell protoporphyrin.
Haematologica 2011;96(5):767-70.
2010: Antonietta Zappu; Maria Barbara Lepori; Simona Incollu; Maria Cristina Noli; Stefano De Virgiliis; Antonio Cao; Georgios Loudianos
Development of TaqMan allelic specific discrimination assay for detection of the most common Sardinian Wilson's disease mutations. Implications for genetic screening.
Molecular and cellular probes 2010;24(4):233-5.
2010: M Giuseppina Marini; Loredana Porcu; Isadora Asunis; M Giuseppina Loi; M Serafina Ristaldi; Susanna Porcu; Tohru Ikuta; Antonio Cao; Paolo Moi
Regulation of the human HBA genes by KLF4 in erythroid cell lines.
British journal of haematology 2010;149(5):748-58.
2010: Valeria Faa'; Alessandra Coiana; Federica Incani; Lucy Costantino; Antonio Cao; Maria Cristina Rosatelli
A synonymous mutation in the CFTR gene causes aberrant splicing in an italian patient affected by a mild form of cystic fibrosis.
The Journal of molecular diagnostics : JMD 2010;12(3):380-3.
2010: Alessandra Meloni; Allesandra Meloni; Edoardo Fiorillo; Denise Corda; Federica Incani; Maria Luisa Serra; Antonella Contini; Antonio Cao; Maria Cristina Rosatelli
DAXX is a new AIRE-interacting protein.
The Journal of biological chemistry 2010;285(17):13012-21.
2010: Valeria Faà; Maddalena Masala; Antonio Cao; Maria Cristina Rosatelli
Alpha globin gene duplications in beta thalassemia patients with intact beta globin gene.
Blood cells, molecules & diseases 2010;44(3):156-8.
2010: Isadora Asunis; Maria Giuseppina Marini; Loredana Porcu; Aurelia Meloni-Ehrig; A L Cabriolu; Antonio Cao; Paolo Moi
A novel missense mutation (C84R) in a patient with type II vitamin d-dependent rickets.
Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association 2010;118(3):177-9.
2010: ANGELO SCUTERI; Samer S Najjar; Marco Orru'; Gianluca Usala; Maria Grazia Piras; Luigi Ferrucci; Antonio Cao; David Schlessinger; Manuela Uda; Edward G Lakatta
The central arterial burden of the metabolic syndrome is similar in men and women: the SardiNIA Study.
European heart journal 2010;31(5):602-13.
2010: Antonio Cao; Renzo Galanello
Beta-thalassemia.
Genetics in medicine : official journal of the American College of Medical Genetics 2010;12(2):61-76.
2010: Mara Marongiu; Manila Deiana; Alessandra Meloni; Loredana Marcia; Alessandro Puddu; Antonio Cao; David Schlessinger; Laura Crisponi
The forkhead transcription factor Foxl2 is sumoylated in both human and mouse: sumoylation affects its stability, localization, and activity.
PloS one 2010;5(3):e9477.
2009: Valeria Faà; Federica Incani; Alessandra Meloni; Denise Corda; Maddalena Masala; A Maria Baffico; Manuela Seia; Antonio Cao; M Cristina Rosatelli
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.
2009: Renzo Galanello; Serena Sanna; Luciana Perseu; Maria Carla Sollaino; Stefania Satta; Maria Eliana Lai; Susanna Barella; Manuela Uda; Gianluca Usala; Goncalo R Abecasis; Antonio Cao
Amelioration of Sardinian beta0 thalassemia by genetic modifiers.
Blood 2009;114(18):3935-7.
2009: serena Sanna; Fabio Busonero; Andrea Maschio; Patrick F McArdle; Gianluca Usala; Mariano Dei; Sandra Lai; Antonella Mulas; Maria Grazia Piras; Luciana Perseu; Marco Masala; Mara Marongiu; Laura Crisponi; Silvia Naitza; Renzo Galanello; Goncalo Abecasis; Alan R Shuldiner; David Schlessinger; Antonio Cao; Manuela Uda
Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia.
Human molecular genetics 2009;18(14):2711-8.
2009: Kirill V Tarasov; serena Sanna; ANGELO SCUTERI; James B Strait; Marco Orrù; Afshin Parsa; Ping-I Lin; Andrea Maschio; Sandra Lai; Maria Grazia Piras; Marco Masala; Toshiko Tanaka; Wendy S Post; Jeffrey R O'Connell; David Schlessinger; Antonio Cao; Ramaiah Nagaraja; Braxton D Mitchell; Goncalo Abecasis; Alan R Shuldiner; Manuela Uda; Edward G Lakatta; Samer S Najjar
COL4A1 is associated with arterial stiffness by genome-wide association scan.
Circulation. Cardiovascular genetics 2009;2(2):151-8.
2009: Mario Lovicu; Maria Barbara Lepori; Simona Incollu; Valentina Dessì; Antonietta Zappu; Raffaele Iorio; Mariangela D'Ambrosi; Maria Teresa Pellecchia; Paolo Barone; GIUSEPPE MAGGIORE; Stefano De Virgiliis; Antonio Cao; Georgios Loudianos
RNA analysis of consensus sequence splicing mutations: implications for the diagnosis of Wilson disease.
Genetic testing and molecular biomarkers 2009;13(2):185-91.
2009: Jose Elias Garcia-Ortiz; Emanuele Pelosi; Shakib Omari; Timur Nedorezov; Yulan Piao; Jesse Karmazin; Manuela Uda; Antonio Cao; Steve W Cole; Antonino Forabosco; David Schlessinger; Chris Ottolenghi
Foxl2 functions in sex determination and histogenesis throughout mouse ovary development.
BMC developmental biology 2009;9():36.
2008: Maria Antonietta Marcialis; Valeria Faà; Vassilios Fanos; Melania Puddu; Maria Cristina Pintus; Antonio Cao; Maria Cristina Rosatelli
Neonatal onset of nephrogenic syndrome of inappropriate antidiuresis.
Pediatric nephrology (Berlin, Germany) 2008;23(12):2267-71.
2008: Maria Antonietta Melis; Milena Cau; Rita Congiu; Gabriella Sole; Susanna Barella; Antonio Cao; Mark Westerman; Mario Cazzola; Renzo Galanello
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.
2008: Antonietta Zappu; Olympia Magli; Maria Barbara Lepori; Valentina Dessì; STEFANIA DIANA; Simona Incollu; Emmanuel Kanavakis; Polyxeni Nicolaidou; Nina Manolaki; Andreas Fretzayas; Stefano De Virgiliis; Antonio Cao; Georgios Loudianos
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.
2008: Guillaume Lettre; Vijay G Sankaran; Marcos André C Bezerra; Aderson S Araújo; Manuela Uda; serena Sanna; Antonio Cao; David Schlessinger; Fernando F Costa; Joel N Hirschhorn; Stuart H Orkin
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.
2008: Lisette Arnaud-Lopez; Gianluca Usala; Graziano Ceresini; Braxton D Mitchell; Maria Grazia Pilia; Maria Grazia Piras; Natascia Sestu; Andrea Maschio; Fabio Busonero; Giuseppe Albai; Mariano Dei; Sandra Lai; Antonella Mulas; Laura Crisponi; Toshiko Tanaka; Stefania Bandinelli; Jack M Guralnik; Angela Loi; Lenuta Balaci; Gabriella Sole; Alessia Prinzis; Stefano Mariotti; Alan R Shuldiner; Antonio Cao; David Schlessinger; Manuela Uda; Goncalo Abecasis; Ramaiah Nagaraja; serena Sanna; Silvia Naitza
Phosphodiesterase 8B gene variants are associated with serum TSH levels and thyroid function.
American journal of human genetics 2008;82(6):1270-80.
2008: Chiara Floris; Stefania Rassu; Loredana Boccone; Daniela Gasperini; Antonio Cao; Laura Crisponi
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.
2008: Manuela Uda; Renzo Galanello; serena Sanna; Guillaume Lettre; Vijay G Sankaran; Weimin Chen; Gianluca Usala; Fabio Busonero; Andrea Maschio; Giuseppe Albai; Maria Grazia Piras; Natascia Sestu; Sandra Lai; Mariano Dei; Antonella Mulas; Laura Crisponi; Silvia Naitza; Isadora Asunis; Manila Deiana; Ramaiah Nagaraja; Luciana Perseu; Stefania Satta; MD Cipollina; Carla Sollaino; Paolo Moi; Joel N Hirschhorn; Stuart H Orkin; Goncalo Abecasis; David Schlessinger; Antonio Cao
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.
2008: meloni alessandra; Federica Incani; Denise Corda; Antonio Cao; Maria Cristina Rosatelli
Role of PHD fingers and COOH-terminal 30 amino acids in AIRE transactivation activity.
Molecular immunology 2008;45(3):805-9.
2008: Antonio Cao; R Congiu; M C Sollaino; M F Desogus; F R Demartis; D Loi; M Cau; Renzo Galanello
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.
2007: Chris Ottolenghi; Emanuele Pelosi; Joseph Tran; Maria Colombino; Eric Douglass; Timur Nedorezov; Antonio Cao; Antonino Forabosco; David Schlessinger
Loss of Wnt4 and Foxl2 leads to female-to-male sex reversal extending to germ cells.
Human molecular genetics 2007;16(23):2795-804.
2007: Siguang Li; serena Sanna; Andrea Maschio; Fabio Busonero; Gianluca Usala; Antonella Mulas; Sandra Lai; Mariano Dei; Marco Orrù; Giuseppe Albai; Stefania Bandinelli; David Schlessinger; Edward Lakatta; ANGELO SCUTERI; Samer S Najjar; Jack Guralnik; Silvia Naitza; Laura Crisponi; Antonio Cao; Goncalo Abecasis; Luigi Ferrucci; Manuela Uda; Wei-Min Chen; Ramaiah Nagaraja
The GLUT9 gene is associated with serum uric acid levels in Sardinia and Chianti cohorts.
PLoS genetics 2007;3(11):e194.
2007: Chris Ottolenghi; Maria Colombino; Laura Crisponi; Antonio Cao; Antonino Forabosco; David Schlessinger; Manuela Uda
Transcriptional control of ovarian development in somatic cells.
Seminars in reproductive medicine 2007;25(4):252-63.
2007: Laura Crisponi; Giangiorgio Crisponi; Alessandra Meloni; Mohammad R Toliat; Gudrun Nurnberg; Gianluca Usala; Manuela Uda; Marco Masala; Wolfgang Hohne; Christian Becker; Mara Marongiu; Francesca Chiappe; Robert Kleta; Anita Rauch; Bernd Wollnik; Friedrich Strasser; Thomas Reese; Cornelis Jakobs; Gerhard Kurlemann; Antonio Cao; Peter Nurnberg; Frank Rutsch
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.
2007: Maria Barbara Lepori; Mario Lovicu; Valeria Dessi; Antonietta Zappu; Simona Incollu; Lucia Zancan; Raffaella Giacchino; Raffaele Iorio; Pietro Vajro; GIUSEPPE MAGGIORE; Matilde Marcellini; Cristiana Barbera; Maria Teresa Pellecchia; Rosanna Simonetti; Vladimir Kostic; Anna Maria Giulia Farci; Antonello Solinas; Stefano De Virgiliis; Antonio Cao; Georgios Loudianos
Twenty-four novel mutations in Wilson disease patients of predominantly Italian origin.
Genetic testing 2007;11(3):328-32.
2007: Chris Ottolenghi; Manuela Uda; Laura Crisponi; Shakib Omari; Antonio Cao; Antonino Forabosco; David Schlessinger
Determination and stability of sex.
BioEssays : news and reviews in molecular, cellular and developmental biology 2007;29(1):15-25.
2007: Maria Addis; Cristiana Meloni; Rita Congiu; Simona Santaniello; francesco emma; Orsetta Zuffardi; Roberto Ciccone; Antonio Cao; Maria Antonietta Melis; Milena Cau
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.
2006: Maria Grazia Orofino; Daniela Contu; Francesca Argiolu; Maria Adele Sanna; Javid Gaziev; Giorgio La Nasa; Adriana Vacca; Antonio Cao; Francesco Cucca
No influence of chromosome Y haplogroup variation in acute graft-versus-host disease in sardinia.
Transplantation 2006;82(11):1529-32.
2006: Loredana Boccone; Valeria Dessì; Antonietta Zappu; Silvia Piga; Maria Bonaria Piludu; Marco Rais; Carlo Massidda; Stefano De Virgiliis; Antonio Cao; Georgios Loudianos
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.
2006: Valeria Faà; Pietro Pellegrini Bettoli; Maria Demurtas; Maurizio Zanda; Vincenzina Ferri; Antonio Cao; Maria Cristina Rosatelli
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.
2006: Giuseppe Pilia; Wei-Min Chen; ANGELO SCUTERI; Marco Orrú; Giuseppe Albai; Mariano Dei; Sandra Lai; Gianluca Usala; Monica Lai; Paola Loi; Cinzia Mameli; Loredana Vacca; Manila Deiana; Nazario Olla; Marco Masala; Antonio Cao; Samer S Najjar; Antonio Terracciano; Timur Nedorezov; Alexei Sharov; Alan B Zonderman; Goncalo Abecasis; Paul Costa; Edward G Lakatta; David Schlessinger
Heritability of cardiovascular and personality traits in 6,148 Sardinians.
PLoS genetics 2006;2(8):e132.
2006: Mario Lovicu; Valeria Dessì; Maria Barbara Lepori; Antonietta Zappu; Lucia Zancan; Raffaella Giacchino; maria grazia marazzi; Raffaele Iorio; Angela Vegnente; Pietro Vajro; GIUSEPPE MAGGIORE; Matilde Marcellini; Cristiana Barbera; Vladimir Kostic; Anna Maria Giulia Farci; Antonello Solinas; Buket Altuntas; Aysel Yuce; Nurten Kocak; Aspasia Tsezou; Stefano De Virgiliis; Antonio Cao; Georgios Loudianos
The canine copper toxicosis gene MURR1 is not implicated in the pathogenesis of Wilson disease.
Journal of gastroenterology 2006;41(6):582-7.
2006: Anna Lisa Nucaro; Rossano Rossino; Dario Pruna; Stefania Rassu; Carlo Cianchetti; Antonio Cao; Paolo Moi
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.
2006: Valeria Faà; meloni alessandra; Loredana Moi; Giuseppe Ibba; Maurizio Travi; Antonio Vitucci; Antonio Cao; Maria Cristina Rosatelli
Thalassaemia-like carriers not linked to the beta-globin gene cluster.
British journal of haematology 2006;132(5):640-50.
2006: Milena Cau; Maria Addis; Rita Congiu; Cristiana Meloni; Antonio Cao; Simona Santaniello; Mario Loi; francesco emma; Orsetta Zuffardi; Roberto Ciccone; Gabriella Sole; Maria Antonietta Melis
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.
2005: Susanna Porcu; Daniela Poddie; Marco Melis; Antonio Cao; Maria Serafina Ristaldi
beta-Minor globin gene expression is preferentially reduced in EKLF Knock-Out mice.
Gene 2005;351():11-7.
2005: meloni alessandra; E Fiorillo; D Corda; Roberto Perniola; Antonio Cao; Maria Cristina Rosatelli
Two novel mutations of the AIRE protein affecting its homodimerization properties.
Human mutation 2005;25(3):319.
2004: Renzo Galanello; Luciana Perseu; Chiara Perra; Liliana Maccioni; Susanna Barella; Maurizio Longinotti; Antonio Cao; Mario Cazzola
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.
2004: Maria Giuseppina Marini; Isadora Asunis; Loredana Porcu; Maria Giulia Salgo; Maria Giuseppina Loi; Arianna Brucchietti; Antonio Cao; Paolo Moi
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.
2004: Paolo Moi; Valeria Faà; Maria Giuseppina Marini; Isadora Asunis; Giuseppe Ibba; Antonio Cao; Maria Cristina Rosatelli
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.
2004: Veronica Latini; Gabriella Sole; Silvia Doratiotto; Daniela Poddie; Marc Memmi; laurent varesi; Giuseppe Vona; Antonio Cao; Maria Serafina Ristaldi
Genetic isolates in Corsica (France): linkage disequilibrium extension analysis on the Xq13 region.
European journal of human genetics : EJHG 2004;12(8):613-9.
2004: Manuela Uda; Chris Ottolenghi; Laura Crisponi; Jose Elias Garcia-Ortiz; Manila Deiana; Wendy Kimber; Antonino Forabosco; Antonio Cao; David Schlessinger; Giuseppe Pilia
Foxl2 disruption causes mouse ovarian failure by pervasive blockage of follicle development.
Human molecular genetics 2004;13(11):1171-81.
2004: Laura Crisponi; Manuela Uda; Manila Deiana; Angela Loi; Ramaiah Nagaraja; Francesca Chiappe; David Schlessinger; Antonio Cao; Giuseppe Pilia
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.
2004: L Boccone; D Gasperini; G Pilloni; Antonio Cao; Anna Lisa Nucaro
Duplication of the terminal band of the long arm of chromosome 7: a new case.
Genetic counseling (Geneva, Switzerland) 2004;15(1):87-90.
2003: Maria Grazia Orofino; Francesca Argiolu; Maria Adele Sanna; Maria Cristina Rosatelli; Teresa Tuveri; Maria Teresa Scalas; Manuela Badiali; Paola Cossu; Rosalba Puddu; Maria Eliana Lai; Antonio Cao
Fetal HLA typing in beta thalassaemia: implications for haemopoietic stem-cell transplantation.
Lancet 2003;362(9377):41-2.
2003: Anna Lisa Nucaro; Antonio Cao; Antonella Faedda; Giangiorgio Crisponi
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.
2003: Mario Lovicu; Valeria Dessi; Antonietta Zappu; Stefano De Virgiliis; Antonio Cao; Georgios Loudianos
Efficient strategy for molecular diagnosis of Wilson disease in the sardinian population.
Clinical chemistry 2003;49(3):496-8.
2003: Georgios Loudianos; Vladimir Kostic; Paola Solinas; Mario Lovicu; Valeria Dessì; Marina Svetel; Tamara Major; Antonio Cao
Characterization of the molecular defect in the ATP7B gene in Wilson disease patients from Yugoslavia.
Genetic testing 2003;7(2):107-12.
2002: Federica Gemignani; Chiara Perra; Stefano Landi; Federico Canzian; Ants Kurg; Neeme Tõnisson; Renzo Galanello; Antonio Cao; Andres Metspalu; Giovanni Romeo
Reliable detection of beta-thalassemia and G6PD mutations by a DNA microarray.
Clinical chemistry 2002;48(11):2051-4.
2002: Georgios Loudianos; Mario Lovicu; Valeria Dessi; Maria Tzetis; Emmanuel Kanavakis; Lucia Zancan; L Zelante; C Galvèz-Galvèz; Antonio Cao
Abnormal mRNA splicing resulting from consensus sequence splicing mutations of ATP7B.
Human mutation 2002;20(4):260-6.
2002: Maria Giuseppina Marini; Isadora Asunis; Kaimin Chan; Jefferson Y Chan; Yuet Wai Kan; Loredana Porcu; Antonio Cao; Paolo Moi
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.
2002: Renzo Galanello; Susanna Barella; Stefania Satta; Liliana Maccioni; Carlo Pintor; Antonio Cao
Homozygosity for nondeletion delta-beta(0) thalassemia resulting in a silent clinical phenotype.
Blood 2002;100(5):1913-4.
2002: Antonio Cao
Carrier screening and genetic counselling in beta-thalassemia.
International journal of hematology 2002;76 Suppl 2():105-13.
2002: Loredana Porcu; Aurelia Meloni-Ehrig; L Casula; Isadora Asunis; Maria Giuseppina Marini; Antonio Cao; Paolo Moi
A novel splicing defect (IVS6+1G>T) in a patient with pseudovitamin D deficiency rickets.
Journal of endocrinological investigation 2002;25(6):557-60.
2002: Antonio Cao; Maria Cristina Rosatelli; Giovanni Monni; Renzo Galanello
Screening for thalassemia: a model of success.
Obstetrics and gynecology clinics of North America 2002;29(2):305-28, vi-vii.
2002: Antonio Cao; Paolo Moi
Regulation of the globin genes.
Pediatric research 2002;51(4):415-21.
2002: Maria Antonietta Melis; Milena Cau; Federica Deidda; Susanna Barella; Antonio Cao; Renzo Galanello
H63D mutation in the HFE gene increases iron overload in beta-thalassemia carriers.
Haematologica 2002;87(3):242-5.
2002: meloni alessandra; Roberto Perniola; Valeria Faà; Enrico Corvaglia; Antonio Cao; Maria Cristina Rosatelli
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.
2002: Anna Lisa Nucaro; A Faedda; Antonio Cao; L Boccone
Partial proximal trisomy 10q syndrome: a new case.
Genetic counseling (Geneva, Switzerland) 2002;13(4):411-6.
2002: Maria Antonietta Melis; Milena Cau; Rita Congiu; Livia Ruvoletto; Antonio Cao; Renzo Galanello
Frequency of hemochromatosis C282Y and H63D mutations in Sardinia.
Genetic testing 2002;6(4):327-9.
2001: Renzo Galanello; Silvia Piras; Susanna Barella; Giovanbattista Leoni; MD Cipollina; Luciana Perseu; Antonio Cao
Cholelithiasis and Gilbert's syndrome in homozygous beta-thalassaemia.
British journal of haematology 2001;115(4):926-8.
2001: Maria Serafina Ristaldi; Dubravka Drabek; J Gribnau; Daniela Poddie; N Yannoutsous; Antonio Cao; Frank Grosveld; A M Ali Imam
The role of the -50 region of the human gamma-globin gene in switching.
The EMBO journal 2001;20(18):5242-9.
2001: Maria Serafina Ristaldi; Stefania Casula; Susanna Porcu; Antonio Cao
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.
2001: Laura Crisponi; Manila Deiana; A Loi; Francesca Chiappe; Manuela Uda; P Amati; Luigi Bisceglia; Leopoldo Zelante; Ramaiah Nagaraja; Susanna Porcu; Maria Serafina Ristaldi; R Marzella; Mariano Rocchi; M Nicolino; A Lienhardt-Roussie; A Nivelon; Alain Verloes; David Schlessinger; Paolo Gasparini; Dominique Bonneau; Antonio Cao; Giuseppe Pilia
The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome.
Nature genetics 2001;27(2):159-66.
2000: M G Mancosu; Renzo Galanello; Rossano Ambu; S De Virgiliis; Nicolina Giagu; Antonio Cao; Gavino Faa
[Histological picture of liver disease in thalassemia intermedia].
Pathologica 2000;92(4):241-8.
2000: Antonio Cao; Paolo Moi
Genetic modifying factors in beta-thalassemia.
Clinical chemistry and laboratory medicine : CCLM / FESCC 2000;38(2):123-32.
2000: Georgios Loudianos; Mario Lovicu; P Solinas; Emmanuel Kanavakis; Maria Tzetis; Nina Manolaki; E Panagiotakaki; Themistocles Karpathios; Antonio Cao
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.
2000: Renu Saxena; L Moi; M Demurtas; Maria Cristina Rosatelli; Antonio Cao; Ishwar C Verma
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.
1999: Georgios Loudianos; Valeria Dessi; Mario Lovicu; Andrea Angius; B Altuntas; Raffaella Giacchino; maria grazia marazzi; Matilde Marcellini; Maria Rita Sartorelli; G C Sturniolo; Nurten Kocak; Aysel Yuce; N Akar; Mario Pirastu; Antonio Cao
Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations.
Journal of medical genetics 1999;36(11):833-6.
1999: Renzo Galanello; MD Cipollina; G Carboni; Luciana Perseu; Susanna Barella; A Corrias; Antonio Cao
Hyperbilirubinemia, glucose-6-phosphate-dehydrogenase deficiency and Gilbert's syndrome.
European journal of pediatrics 1999;158(11):914-6.
1999: Mario Cazzola; Yves Beguin; Gaetano Bergamaschi; R Guarnone; Paola Cerani; Susanna Barella; Antonio Cao; Renzo Galanello
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.
1999: Maria Serafina Ristaldi; Stefania Casula; Susanna Porcu; Maria Franca Marongiu; Mario Pirastu; Antonio Cao
Activation of the delta-globin gene by the beta-globin gene CACCC motif.
Blood cells, molecules & diseases 1999;25(3-4):193-209.
1999: Renzo Galanello; MD Cipollina; Carlo Dessì; Nicolina Giagu; E Lai; Antonio Cao
Co-inherited Gilbert's syndrome: a factor determining hyperbilirubinemia in homozygous beta-thalassemia.
Haematologica 1999;84(2):103-5.
1999: Giuseppe Pilia; Manuela Uda; D Macis; F Frau; Laura Crisponi; Fiorella Balli; Cristiana Barbera; C Colombo; Tullio Frediani; R Gatti; Raffaele Iorio; maria grazia marazzi; Matilde Marcellini; S Musumeci; Gabriella Nebbia; Pietro Vajro; G Ruffa; Lucia Zancan; Antonio Cao; S DeVirgilis
Jagged-1 mutation analysis in Italian Alagille syndrome patients.
Human mutation 1999;14(5):394-400.
1999: Georgios Loudianos; Valeria Dessi; Mario Lovicu; Andrea Angius; A Figus; F Lilliu; Stefano De Virgiliis; A M Nurchi; A Deplano; P Moi; Mario Pirastu; Antonio Cao
Molecular characterization of wilson disease in the Sardinian population--evidence of a founder effect.
Human mutation 1999;14(4):294-303.
1999: Maria Antonietta Melis; Maria Addis; C Lepiani; Elena Congeddu; P Cossu; Antonio Cao
A strategy for fragile-X carrier screening.
Genetic testing 1999;3(3):301-4.
1999: Renata Paleari; E Paglietti; Andrea Mosca; M Mortarino; Liliana Maccioni; Stefania Satta; Antonio Cao; Renzo Galanello
Posttranslational deamidation of proteins: the case of hemoglobin J Sardegna [alpha50(CD8)His-->Asn-->Asp].
Clinical chemistry 1999;45(1):21-8.
1998: M Pellegrini; Giuseppe Pilia; S Pantano; F Lucchini; Manuela Uda; MP Fumi; Antonio Cao; David Schlessinger; Antonino Forabosco
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.
1998: Renzo Galanello; Carla Sollaino; E Paglietti; Susanna Barella; Chiara Perra; I Doneddu; M G Pirroni; Liliana Maccioni; Antonio Cao
Alpha-thalassemia carrier identification by DNA analysis in the screening for thalassemia.
American journal of hematology 1998;59(4):273-8.
1998: Maria Cristina Rosatelli; meloni alessandra; A Meloni; M Devoto; Antonio Cao; Hamish Scott; Pärt Peterson; M Heino; KJ Krohn; Kentaro Nagamine; Jun Kudoh; Nobuyoshi Shimizu; Stylianos E Antonarakis
A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients.
Human genetics 1998;103(4):428-34.
1998: Georgios Loudianos; Valeria Dessì; Mario Lovicu; Andrea Angius; Emmanuel Kanavakis; Maria Tzetis; Christos Kattamis; Nina Manolaki; G Vassiliki; Themistocles Karpathios; Antonio Cao; Mario Pirastu
Haplotype and mutation analysis in Greek patients with Wilson disease.
European journal of human genetics : EJHG 1998;6(5):487-91.
1998: Renzo Galanello; Antonio Cao
Relationship between genotype and phenotype. Thalassemia intermedia.
Annals of the New York Academy of Sciences 1998;850():325-33.
1998: Antonio Cao; Renzo Galanello; Maria Cristina Rosatelli
Prenatal diagnosis and screening of the haemoglobinopathies.
Baillière's clinical haematology 1998;11(1):215-38.
1998: Andrea Angius; Valeria Dessi; Mario Lovicu; Stefano De Virgiliis; Mario Pirastu; Antonio Cao
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.
1998: Georgios Loudianos; Valeria Dessi; Mario Lovicu; Andrea Angius; Antonio Cao; Mario Pirastu
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: Maria Antonietta Melis; Milena Cau; Francesco Muntoni; Anna Mateddu; Renzo Galanello; L Boccone; F Deidda; D Loi; Antonio Cao
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: Renzo Galanello; D Loi; Carla Sollaino; S Dessì; Antonio Cao; Maria Antonietta Melis
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: Milena Cau; Antonio Cao; D Loi; A Puddu; Francesco Muntoni; Anna Mateddu; Maria Antonietta Melis
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.
1998: Georgios Loudianos; Valeria Dessì; Mario Lovicu; Andrea Angius; A Nurchi; G C Sturniolo; Matilde Marcellini; Lucia Zancan; P Bragetti; N Akar; R Yagci; Angela Vegnente; Antonio Cao; Mario Pirastu
Further delineation of the molecular pathology of Wilson disease in the Mediterranean population.
Human mutation 1998;12(2):89-94.
1998: G B Leoni; S Pitzalis; R Tonelli; Antonio Cao
Identification of a novel mutation (S13F) in the CFTR gene in a CF patient of Sardinian origin.
Human mutation 1998;11(4):337.
1998: E Paglietti; Susanna Barella; Stefania Satta; Chiara Perra; Antonio Cao; Renzo Galanello
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: Maria Antonietta Melis; Francesco Muntoni; Milena Cau; D Loi; A Puddu; L Boccone; Anna Mateddu; Carlo Cianchetti; Antonio Cao
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.
1998: D Gasperini; Luciana Perseu; Maria Antonietta Melis; Liliana Maccioni; M C Sollaino; E Paglietti; Antonio Cao; Renzo Galanello
Heterozygous beta-thalassemia with thalassemia intermedia phenotype.
American journal of hematology 1998;57(1):43-7.
1997: Renzo Galanello; Luciana Perseu; Maria Antonietta Melis; L Cipollina; Susanna Barella; Nicolina Giagu; M P Turco; O Maccioni; Antonio Cao
Hyperbilirubinaemia in heterozygous beta-thalassaemia is related to co-inherited Gilbert's syndrome.
British journal of haematology 1997;99(2):433-6.
1997: Antonio Cao; L Saba; Renzo Galanello; Maria Cristina Rosatelli
Molecular diagnosis and carrier screening for beta thalassemia.
JAMA : the journal of the American Medical Association 1997;278(15):1273-7.
1997: Reid Huber; Laura Crisponi; R Mazzarella; C N Chen; Y Su; H Shizuya; E Y Chen; Antonio Cao; Giuseppe Pilia
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.
1997: Maria Giuseppina Marini; Kaimin Chan; L Casula; Yuet Wai Kan; Antonio Cao; Paolo Moi
hMAF, a small human transcription factor that heterodimerizes specifically with Nrf1 and Nrf2.
The Journal of biological chemistry 1997;272(26):16490-7.
1997: Maria Rosaria Piemontese; E Memeo; Massimo Carella; P Amati; J C Chomel; Dominique Bonneau; Giuseppe Pilia; Antonio Cao; Harry A Drabkin; Robert M Gemmill; JM Rommens; Leopoldo Zelante; Paolo Gasparini; Luigi Bisceglia
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.
1997: M Putzolu; Aurelia Meloni-Ehrig; S Loche; C Pischedda; Antonio Cao; Paolo Moi
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: S Murru; Luca Pani; Daniela Poddie; Gian Luigi Gessa; Antonio Cao; Mario Pirastu
Rat tyrosine hydroxylase gene polymorphisms.
Brain research. Molecular brain research 1997;45(2):345-8.
1997: N Zedda; Enrico Onnis; Andrea Angius; F Balata; P A Cherchi; Gabriella Sole; N Olla; Daniela Poddie; Antonio Cao; A Cherchi; Mario Pirastu
[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.
1997: Maria Cristina Rosatelli; meloni alessandra; V Faa; L Saba; Giangiorgio Crisponi; Maria Grazia Clemente; G Meloni; M T Piga; Antonio Cao
Molecular analysis of patients of Sardinian descent with Crigler-Najjar syndrome type I.
Journal of medical genetics 1997;34(2):122-5.
1997: Renzo Galanello; Renata Paleari; Luciana Perseu; Susanna Barella; Liliana Maccioni; Antonio Cao; G Mulas; E Cocco; Andrea Mosca
Hb Puttelange [beta 140(H19)Ala-->Val] in an Italian man with polycythemia.
Hemoglobin 1997;21(1):17-26.
1996: Mauro Congia; Maria Grazia Clemente; C Dessi; Francesco Cucca; A P Mazzoleni; Fulvia Frau; R Lampis; Antonio Cao; M E Lai; Stefano De Virgiliis
HLA class II genes in chronic hepatitis C virus-infection and associated immunological disorders.
Hepatology (Baltimore, Md.) 1996;24(6):1338-41.
1996: Georgios Loudianos; Valeria Dessì; Andrea Angius; Mario Lovicu; A Loi; M Deiana; Nejat Akar; P Vajro; A Figus; Antonio Cao; Mario Pirastu
Wilson disease mutations associated with uncommon haplotypes in Mediterranean patients.
Human genetics 1996;98(6):640-2.
1996: Maurizio Fossarello; C Bertini; silvana galantuomo; Antonio Cao; Antonina Serra; Mario Pirastu
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.
1996: Maurizio Fossarello; Ignazio Zucca; silvana galantuomo; Antonina Serra; Mario Pirastu; A Loi; Gabriella Sole; Antonio Cao
Genetic mapping of autosomal dominant primary open-angle glaucoma (POAG) in Sardinia.
International ophthalmology 1996;20(1-3):1-5.
1996: meloni alessandra; A Meloni; Antonio Cao; Maria Cristina Rosatelli
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.
1996: S Cocco; Alessandra Meloni; M G Marini; Antonio Cao; Paolo Moi
A missense (T577I) mutation in the luteinizing hormone receptor gene associated with familial male-limited precocious puberty.
Human mutation 1996;7(2):164-6.
1996: Antonio Cao; Maria Cristina Rosatelli; Renzo Galanello
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.
1996: Antonio Cao; Renzo Galanello; Maria Cristina Rosatelli; F Argiolu; Stefano De Virgiliis
Clinical experience of management of thalassemia: the Sardinian experience.
Seminars in hematology 1996;33(1):66-75.
1995: M S Ristaldi; Antonio Cao; S Casula
In vitro expression of the --87 beta-globin thalassemic mutations.
Blood 1995;86(5):2055-6.
1995: G B Leoni; S Pitzalis; R Podda; Maurizio Zanda; M Silvetti; L Caocci; Antonio Cao; Maria Cristina Rosatelli
A specific cystic fibrosis mutation (T3381) associated with the phenotype of isolated hypotonic dehydration.
The Journal of pediatrics 1995;127(2):281-3.
1995: Maria Cristina Rosatelli; V Faà; meloni alessandra; F Fiorenza; Renzo Galanello; D Gasperini; G Amendola; Antonio Cao
A promoter mutation, C-->T at position -92, leading to silent beta-thalassaemia.
British journal of haematology 1995;90(2):483-5.
1995: C Pischedda; S Cocco; A Melis; M G Marini; Y W Kan; Antonio Cao; Paolo Moi
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.
1995: Mario Cazzola; Piero De Stefano; Luisa Ponchio; Franco Locatelli; Yves Beguin; C Dessi; Susanna Barella; Antonio Cao; Renzo Galanello
Relationship between transfusion regimen and suppression of erythropoiesis in beta-thalassaemia major.
British journal of haematology 1995;89(3):473-8.
1995: Giovanni Monni; Rosa M Ibba; G Olla; Antonio Cao; G Crisponi
Color Doppler ultrasound and prenatal diagnosis of cleft palate.
Journal of clinical ultrasound : JCU 1995;23(3):189-91.
1994: Maria Cristina Rosatelli; A Pischedda; meloni alessandra; L Saba; A Pomo; M Travi; S Fattore; Antonio Cao
Homozygous beta-thalassaemia resulting in the beta-thalassaemia carrier state phenotype.
British journal of haematology 1994;88(3):562-5.
1994: Renzo Galanello; D Gasperini; Luciana Perseu; Susanna Barella; A Ideo; Antonio Cao
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: Paolo Moi; K Chan; I Asunis; Antonio Cao; Y W Kan
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.
1994: Georgios Loudianos; A L Figus; A Loi; Andrea Angius; Valeria Dessì; M Deiana; Stefano De Virgiliis; Giovanni Monni; Antonio Cao; Mario Pirastu
Improvement of prenatal diagnosis of Wilson disease using microsatellite markers.
Prenatal diagnosis 1994;14(10):999-1002.
1994: Rosa M Ibba; Giovanni Monni; G Olla; Antonio Cao
Umbilical artery velocity waveforms before and after chorionic villus sampling.
Prenatal diagnosis 1994;14(9):799-802.
1994: V Faà; M L Ventruto; S Loche; M Bozzola; R Podda; Antonio Cao; Maria Cristina Rosatelli
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.
1994: L Boccone; Alessandra Meloni; A M Falchi; V Usai; Antonio Cao
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.
1994: Francesco Cucca; Fulvia Frau; R Lampis; M Floris; L Argiolas; D Macis; Antonio Cao; Stefano De Virgiliis; Mauro Congia
HLA-DQB1*0305 and -DQB1*0304 alleles among Sardinians. Evolutionary and practical implications for oligotyping.
Human immunology 1994;40(2):143-9.
1994: Mauro Congia; Francesco Cucca; Fulvia Frau; R Lampis; L Melis; Maria Grazia Clemente; Antonio Cao; Stefano De Virgiliis
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.
1994: Antonio Cao; Renzo Galanello; Maria Cristina Rosatelli
Genotype-phenotype correlations in beta-thalassemias.
Blood reviews 1994;8(1):1-12.
1994: Antonio Cao
1993 William Allan award address.
American journal of human genetics 1994;54(3):397-402.
1994: M E Lai; A P Mazzoleni; F Argiolu; S De Virgilis; Angelo Balestrieri; Robert Purcell; Antonio Cao; Patrizia Farci
Hepatitis C virus in multiple episodes of acute hepatitis in polytransfused thalassaemic children.
Lancet 1994;343(8894):388-90.
1994: meloni alessandra; L Boccone; L Angius; S Loche; A M Falchi; Antonio Cao
Hypothalamic growth hormone deficiency in a patient with ring chromosome 18.
European journal of pediatrics 1994;153(2):110-2.
1994: Maria Lia Palomba; Giovanni Monni; Rosalba Lai; Giuseppina Cau; G Olla; Antonio Cao
Psychological implications and acceptability of preimplantation diagnosis.
Human reproduction (Oxford, England) 1994;9(2):360-2.
1994: Renzo Galanello; Susanna Barella; M P Turco; Nicolina Giagu; Antonio Cao; F Dore; Nicola Liberato; R Guarnone; Giovanni Barosi
Serum erythropoietin and erythropoiesis in high- and low-fetal hemoglobin beta-thalassemia intermedia patients.
Blood 1994;83(2):561-5.
1994: D Gasperini; Luciana Perseu; P Cossu; R Podda; Antonio Cao; Renzo Galanello
A novel delta O-thalassemia mutation: TGG-->TAG (TRP-->STOP) at codon 37.
Human mutation 1994;3(1):71-2.
1994: meloni alessandra; M Demurtas; L Moi; V Faà; Antonio Cao; Maria Cristina Rosatelli
A novel beta-thalassemia mutation: frameshift at codon 59 detected in an Italian carrier.
Human mutation 1994;3(3):309-11.
1994: L Oggiano; L Guiso; L Frogheri; Georgios Loudianos; P Pistidda; E Rimini; Mario Pirastu; Antonio Cao; M Longinotti
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.
1993: L Saba; G B Leoni; meloni alessandra; V Faà; Antonio Cao; Maria Cristina Rosatelli
Two novel mutations in the transmembrane domains of the CFTR gene in subjects of Sardinian descent.
Human molecular genetics 1993;2(10):1739-40.
1993: Francesco Muntoni; Milena Cau; A Ganau; R Congiu; G Arvedi; Anna Mateddu; Maria Giovanna Marrosu; Carlo Cianchetti; G Realdi; Antonio Cao
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.
1993: Francesco Muntoni; Milena Cau; R Congiu; M Congia; Antonio Cao; Maria Antonietta Melis
Identification of a novel T-insertion polymorphism at the DMD locus.
Human genetics 1993;92(1):103.
1993: Francesco Cucca; Francesco Muntoni; R Lampis; Fulvia Frau; L Argiolas; M Silvetti; E Angius; Antonio Cao; Stefano De Virgiliis; Mauro Congia
Combinations of specific DRB1, DQA1, DQB1 haplotypes are associated with insulin-dependent diabetes mellitus in Sardinia.
Human immunology 1993;37(2):85-94.
1993: S Murru; M C Pischedda; Antonio Cao; Maria Cristina Rosatelli; Mario Pirastu; G V Sciarratta; Laura Manca; D Gallisai; C Toffoli
A promoter mutation of the beta-globin gene (-101 C-->T) has an age-related expression pattern.
Blood 1993;81(10):2818-9.
1993: Maria Antonietta Melis; Milena Cau; R Congiu; R Puddu; Francesco Muntoni; Antonio Cao
Germinal mosaicism in a Duchenne muscular dystrophy family: implications for genetic counselling.
Clinical genetics 1993;43(5):247-9.
1993: D Gasperini; Antonio Cao; L Paderi; Susanna Barella; E Paglietti; Luciana Perseu; D Loi; Renzo Galanello
Normal individuals with high Hb A2 levels.
British journal of haematology 1993;84(1):166-8.
1993: Francesco Cucca; Francesco Muntoni; R Lampis; Fulvia Frau; Antonio Cao; Stefano De Virgiliis; Mauro Congia
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.
1993: Renzo Galanello; meloni alessandra; D Gasperini; L Saba; Antonio Cao; Maria Cristina Rosatelli; Luciana Perseu
The repeated sequence (AT)x(T)y upstream to the beta-globin gene is a simple polymorphism.
Blood 1993;81(7):1974-5.
1993: Antonio Cao; Maria Cristina Rosatelli
Screening and prenatal diagnosis of the haemoglobinopathies.
Baillière's clinical haematology 1993;6(1):263-86.
1993: Francesco Muntoni; Anna Mateddu; Carlo Cianchetti; Maria Giovanna Marrosu; A Clerk; Milena Cau; R Congiu; Antonio Cao; Maria Antonietta Melis
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.
1993: Giovanni Monni; Rosa M Ibba; Rosalba Lai; Giuseppina Cau; S Mura; G Olla; C Rosatelli; Antonio Cao
Early transabdominal chorionic villus sampling in couples at high genetic risk.
American journal of obstetrics and gynecology 1993;168(1 Pt 1):170-3.
1993: Georgios Loudianos; S Porcu; P Cossu; N Tannoia; A Vitucci; D Campanale; Antonio Cao; Mario Pirastu
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.
1993: Francesco Muntoni; Anna Mateddu; Milena Cau; R Congiu; R Puddu; P Cossu; Antonio Cao; Maria Antonietta Melis
Diagnosis of DMD carrier status in a family with no known affected males.
Developmental medicine and child neurology 1993;35(1):70-3.
1993: G B Leoni; Maria Cristina Rosatelli; G Cossu; M C Pischedda; Stefano De Virgiliis; Antonio Cao
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.
1992: V Faà; Maria Cristina Rosatelli; R Sardu; meloni alessandra; C Toffoli; Antonio Cao
A simple electrophoretic procedure for fetal diagnosis of beta-thalassaemia due to short deletions.
Prenatal diagnosis 1992;12(11):903-8.
1992: Giovanni Monni; Rosa M Ibba; Rosalba Lai; C Giuseppina; M Silvia; G Olla; Antonio Cao
Transabdominal chorionic villus sampling: fetal loss rate in relation to maternal and gestational age.
Prenatal diagnosis 1992;12(10):815-20.
1992: D Gasperini; Renzo Galanello; Maria Antonietta Melis; S Iannelli; P Giordano; L F Bernini; Antonio Cao
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: P Cossu; Mario Pirastu; Anna Lisa Nucaro; A Figus; A Balestrieri; C Borrone; R Giacchino; M Devoto; Giovanni Monni; Antonio Cao
Prenatal diagnosis of Wilson's disease by analysis of DNA polymorphism.
The New England journal of medicine 1992;327(1):57.
1992: Georgios Loudianos; Antonio Cao; Mario Pirastu
Feasibility of prenatal diagnosis of beta-thalassemia using two highly polymorphic microsatellites 5' to the beta-globin gene.
Haematologica 1992;77(4):361-2.
1992: Francesco Muntoni; Anna Mateddu; Maria Giovanna Marrosu; Milena Cau; R Congiu; Maria Antonietta Melis; Antonio Cao; Carlo Cianchetti
Variable dystrophin expression in different muscles of a Duchenne muscular dystrophy carrier.
Clinical genetics 1992;42(1):35-8.
1992: S Murru; Georgios Loudianos; S Porcu; G V Sciarratta; S Agosti; M I Parodi; Antonio Cao; Mario Pirastu
A beta-thalassaemia phenotype not linked to the beta-globin cluster in an Italian family.
British journal of haematology 1992;81(2):283-7.
1992: Francesco Muntoni; Mauro Congia; Francesco Cucca; P Cossu; S Porcu; Fulvia Frau; M Arnone; M Songini; Sa Muntoni; Antonio Cao
The HLA DQB1*0502 allele is neutrally associated with insulin-dependent diabetes mellitus in the Sardinian population.
Tissue antigens 1992;39(5):262-5.
1992: L Romao; F Cash; I Weiss; Stephen A Liebhaber; Mario Pirastu; R Galanello; A Loi; E Paglietti; P Ioannou; Antonio Cao
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: Carlo Cianchetti; F Muntoni; A M Falchi; Anna Lisa Nucaro; G Sannio-Fancello; Antonio Cao; Maria Giovanna Marrosu
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.
1992: Antonio Cao; G B Leoni; R Sardu; M C Pischedda; L Saba
Prenatal diagnosis of inherited hemoglobinopathies.
Recenti progressi in medicina 1992;83(4):224-32.
1992: Maria Cristina Rosatelli; C Altay; R Oner; G B Leoni; B Moi; G Atzori; Antonio Cao
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: Maria Cristina Rosatelli; A Dozy; V Faà; meloni alessandra; R Sardu; L Saba; Y W Kan; Antonio Cao
Molecular characterization of beta-thalassemia in the Sardinian population.
American journal of human genetics 1992;50(2):422-6.
1992: Paolo Moi; Georgios Loudianos; João Lavinha; S Murru; P Cossu; R Casu; L Oggiano; M Longinotti; Antonio Cao; Mario Pirastu
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: C Rosatelli; G B Leoni; T Tuveri; M T Scalas; Andrea Mosca; Renzo Galanello; D Gasperini; Antonio Cao
Heterozygous beta-thalassemia: relationship between the hematological phenotype and the type of beta-thalassemia mutation.
American journal of hematology 1992;39(1):1-4.
1992: Georgios Loudianos; Paolo Moi; João Lavinha; Renzo Galanello; Antonio Cao; Mario Pirastu
Normal delta-globin gene sequences in Sardinian nondeletional delta beta-thalassemia.
Hemoglobin 1992;16(6):503-9.
1992: L Saba; meloni alessandra; R Sardu; M Travi; P Primignani; Maria Cristina Rosatelli; Antonio Cao
A novel beta-thalassemia mutation (G-->A) at the initiation codon of the beta-globin gene.
Human mutation 1992;1(5):420-2.
1992: Georgios Loudianos; S Murru; M S Ristaldi; P Cossu; G Pilia; S Porcu; G V Sciarratta; M I Parodi; Antonio Cao; Mario Pirastu
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: S Murru; Daniela Poddie; G V Sciarratta; S Agosti; M Baffico; C Melevendi; Mario Pirastu; Antonio Cao
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: Renzo Galanello; M I Monne; L Paderi; E Paglietti; G Atzori; M Addis; O Limongelli; A Macciotta; Antonio Cao
Homozygous non-deletion alpha 2 globin gene mutation (initiation codon mutation): clinical and haematological phenotype.
British journal of haematology 1991;79(1):117-9.
1991: Georgios Loudianos; S Murru; Emmanuel Kanavakis; A Metaxotou-Mavromati; D Theodoropoulou; Christos Kattamis; Antonio Cao; Mario Pirastu
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: F Argiolu; G Diana; A Avignone; Antonio Cao; S Di Ninni
Hearing impairment during deferoxamine therapy for thalassemia major.
The Journal of pediatrics 1991;118(5):826-7.
1991: S Murru; Georgios Loudianos; M Deiana; C Camaschella; G V Sciarratta; S Agosti; M I Parodi; P Cerruti; Antonio Cao; Mario Pirastu
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: Antonello Podda; Renzo Galanello; Liliana Maccioni; Maria Antonietta Melis; C Rosatelli; Luciana Perseu; Antonio Cao
Hemoglobin Cagliari (beta 60 [E4] Val----Glu): a novel unstable thalassemic hemoglobinopathy.
Blood 1991;77(2):371-5.
1991: Antonio Cao; C Rosatelli; M Pirastu; R Galanello
Thalassemias in Sardinia: molecular pathology, phenotype-genotype correlation, and prevention.
The American journal of pediatric hematology/oncology 1991;13(2):179-88.
1991: Giovanni Monni; C Useli; Rosa M Ibba; Rosalba Lai; G Olla; Antonio Cao
Early antenatal sonographic diagnosis of conjoined syncephalus-craniothoraco-omphalopagus twins. Case report.
Journal of perinatal medicine 1991;19(6):489-92.
1991: G B Leoni; C Rosatelli; A Vitucci; M Addis; A Loi; N Tannoia; Antonio Cao
Molecular basis of beta-thalassemia intermedia in a southern Italian region (Puglia).
Acta haematologica 1991;86(4):174-8.
1990: S Murru; Georgios Loudianos; Antonio Cao; S Vaccargiu; Mario Pirastu; G V Sciarratta; S Agosti; M I Parodi
A beta-thalassemia carrier with normal sequence within the beta-globin gene.
Blood 1990;76(10):2164-5.
1990: Renzo Galanello; M A Sanna; Liliana Maccioni; D Gasperini; Maria Antonietta Melis; C Rosatelli; Giovanni Monni; Antonio Cao
Fetal hydrops in Sardinia: implications for genetic counselling.
Clinical genetics 1990;38(5):327-31.
1990: G B Leoni; C Rosatelli; R Sardu; G Scarpa; M Silvetti; Antonio Cao
Molecular bases for cystic fibrosis in the Sardinian population.
Human genetics 1990;85(4):415.
1990: Antonio Cao; Mario Pirastu; C Rosatelli
Prenatal diagnosis of inherited hemoglobinopathies.
Haematologica 1990;75 Suppl 5():169-77.
1990: Andrea Mosca; M Paderi; A Sanna; Renata Paleari; Antonio Cao; Renzo Galanello
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: Renzo Galanello; M P Turco; Susanna Barella; Nicolina Giagu; C Dessì; G Cornacchia; Antonio Cao
Iron stores and iron deficiency anemia in children heterozygous for beta-thalassemia.
Haematologica 1990;75(4):319-22.
1990: S Murru; L Casula; M Pecorara; Pier Giorgio Mori; Antonio Cao; Mario Pirastu
Illegitimate recombination produced a duplication within the FVIII gene in a patient with mild hemophilia A.
Genomics 1990;7(1):115-8.
1990: Renzo Galanello; Maria Antonietta Melis; Antonello Podda; M Monne; Luciana Perseu; Georgios Loudianos; Antonio Cao; Mario Pirastu; A Piga
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: Maria Cristina Rosatelli; R Sardu; T Tuveri; M T Scalas; A Di Tucci; M De Murtas; Georgios Loudianos; Giovanni Monni; Antonio Cao
Reliability of prenatal diagnosis of genetic diseases by analysis of amplified trophoblast DNA.
Journal of medical genetics 1990;27(4):249-51.
1990: M S Ristaldi; Mario Pirastu; S Murru; L Casula; Georgios Loudianos; Antonio Cao; G V Sciarratta; S Agosti; M I Parodi; Daniela Leone
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: Georgios Loudianos; Antonio Cao; M S Ristaldi; Mario Pirastu; M Tzeti; E Kannavakis; Christos Kattamis
Molecular basis of delta beta-thalassemia with normal fetal hemoglobin level.
Blood 1990;75(2):526-8.
1990: Giovanni Monni; G Olla; C Rosatelli; Antonio Cao
Second-trimester placental biopsy versus amniocentesis for prenatal diagnosis of beta-thalassemia.
The New England journal of medicine 1990;322(1):60-1.
1990: Mario Pirastu; M S Ristaldi; Georgios Loudianos; S Murru; G V Sciarratta; M I Parodi; Daniela Leone; S Agosti; Antonio Cao
Molecular analysis of atypical beta-thalassemia heterozygotes.
Annals of the New York Academy of Sciences 1990;612():90-7.
1990: Antonio Cao; Maria Cristina Rosatelli; G B Leoni; T Tuveri; M T Scalas; Giovanni Monni; G Olla; Renzo Galanello
Antenatal diagnosis of beta-thalassemia in Sardinia.
Annals of the New York Academy of Sciences 1990;612():215-25.
1990: F Argiolu; G Diana; M Arnone; M G Batzella; P Piras; Antonio Cao
High-dose intravenous immunoglobulin in the management of autoimmune hemolytic anemia complicating thalassemia major.
Acta haematologica 1990;83(2):65-8.
1989: Antonio Cao; C Rosatelli; Renzo Galanello; M S Ristaldi
Prenatal diagnosis of inherited hemoglobinopathies.
Indian journal of pediatrics 1989;56(6):707-17.
1989: Antonio Cao; C Rosatelli; Renzo Galanello; Giovanni Monni; G Olla; P Cossu; M S Ristaldi
The prevention of thalassemia in Sardinia.
Clinical genetics 1989;36(5):277-85.
1989: M S Ristaldi; Mario Pirastu; C Rosatelli; Giovanni Monni; Henry A Erlich; Randall K Saiki; Antonio Cao
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: Renzo Galanello; Susanna Barella; Liliana Maccioni; E Paglietti; Maria Antonietta Melis; Maria Cristina Rosatelli; F Argiolu; Antonio Cao
Erythropoiesis following bone marrow transplantation from donors heterozygous for beta-thalassaemia.
British journal of haematology 1989;72(4):561-6.
1989: Luciana Perseu; M S Ristaldi; SP Dibenedetto; R Testa; Gino Schilirò; Mario Pirastu; Antonio Cao
The effect of the beta thalassemia mutation on the clinical severity of the sickle beta thalassemia syndrome.
Haematologica 1989;74(4):341-5.
1989: Mario Pirastu; M S Ristaldi; Antonio Cao
Prenatal diagnosis of beta thalassaemia based on restriction endonuclease analysis of amplified fetal DNA.
Journal of medical genetics 1989;26(6):363-7.
1989: Antonio Cao; S Murru
Molecular pathology and detection of beta-thalassemias.
Progress in clinical and biological research 1989;309():3-11.
1989: Renzo Galanello; Antonello Podda; Maria Antonietta Melis; M Monne; Antonio Cao
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: Maria Cristina Rosatelli; T Tuveri; M T Scalas; A Di Tucci; G B Leoni; M Furbetta; Giovanni Monni; Antonio Cao
Prenatal diagnosis of beta thalassaemia by oligonucleotide analysis in Mediterranean populations.
Journal of medical genetics 1988;25(11):762-5.
1988: Anna Lisa Nucaro; A M Falchi; Giovanni Monni; Antonio Cao
Pseudomosaic centric fission of chromosome 4 in amniotic cells.
Prenatal diagnosis 1988;8(8):629-31.
1988: Renzo Galanello; E Paglietti; Maria Antonietta Melis; M G Crobu; M Addis; Paolo Moi; Antonio Cao
Interaction of heterozygous beta zero-thalassemia with single functional alpha-globin gene.
American journal of hematology 1988;29(2):63-6.
1988: Antonio Cao; Mario Pirastu; M S Ristaldi; G B Leoni; Giovanni Monni; Maria Cristina Rosatelli
Prenatal diagnosis of beta-thalassemia in Italian population.
Haematologica 1988;73(5):331-41.
1988: Paolo Moi; E Paglietti; A Sanna; Carlo Brancati; Antonio Tagarelli; Renzo Galanello; Antonio Cao; Mario Pirastu
Delineation of the molecular basis of delta- and normal HbA2 beta-thalassemia.
Blood 1988;72(2):530-3.
1988: Giovanni Monni; Rosa M Ibba; G Olla; C Rosatelli; Antonio Cao
Prenatal diagnosis of beta-thalassaemia by second-trimester chorionic villus sampling.
Prenatal diagnosis 1988;8(6):447-51.
1988: C Rosatelli; F Schettini; Giovanni Monni; T Tuveri; M T Scalas; A Di Tucci; G B Leoni; Antonio Cao
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: Giovanni Monni; G Olla; Antonio Cao
Patient's choice between transcervical and transabdominal chorionic villus sampling.
Lancet 1988;1(8593):1057.
1988: P E Manconi; C Dessí; G Sanna; F Argiolu; P Pellegrini-Bettoli; R Piro; O Masotti; Antonio Cao
Human immunodeficiency virus infection in multi-transfused patients with thalassaemia major.
European journal of pediatrics 1988;147(3):304-7.
1988: Renzo Galanello; M E Paglietti; M Addis; Maria Antonietta Melis; T Tuveri; M Furbetta; Antonio Cao
Pitfalls in genetic counselling for beta-thalassemia: an individual with 4 different thalassemia mutations.
Clinical genetics 1988;33(3):151-5.
1988: Stefano De Virgiliis; Mauro Congia; M P Turco; Fulvia Frau; C Dessi; F Argiolu; R Sorcinelli; A Sitzia; Antonio Cao
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: Antonio Cao; C Rosatelli
Control of beta-thalassemia in Sardinia.
Birth defects original article series 1988;23(5B):395-404.
1988: Antonio Cao
Diagnosis of beta-thalassemia intermedia at presentation.
Birth defects original article series 1988;23(5B):219-26.
1988: L Oggiano; F Dore; P Pistidda; L Guiso; Laura Manca; Bruno Masala; Mario Pirastu; C Rosatelli; Antonio Cao; M Longinotti
Homozygous beta zero-39 mutation with thalassemia intermedia in northern Sardinia: clinical, hematological and molecular analysis.
Hemoglobin 1988;12(5-6):673-80.
1987: Paolo Moi; F E Cash; Stephen A Liebhaber; Antonio Cao; Mario Pirastu
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: L Oggiano; Mario Pirastu; Paolo Moi; M Longinotti; Luciana Perseu; Antonio Cao
Molecular characterization of a normal Hb A2 beta-thalassaemia determinant in a Sardinian family.
British journal of haematology 1987;67(2):225-9.
1987: Antonio Cao; P Cossu; Giovanni Monni; Maria Cristina Rosatelli
Chorionic villus sampling and acceptance rate of prenatal diagnosis.
Prenatal diagnosis 1987;7(7):531-3.
1987: A M Falchi; M G Orofino; Anna Lisa Nucaro; S De Virgiliis; Antonio Cao
Acute lymphoblastic leukemia in a child with constitutional ring chromosome 21.
Cancer genetics and cytogenetics 1987;27(2):219-24.
1987: Giovanni Monni; Rosa M Ibba; G Olla; C Rosatelli; Antonio Cao
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: C Rosatelli; G B Leoni; T Tuveri; M T Scalas; A Di Tucci; Antonio Cao
Beta thalassaemia mutations in Sardinians: implications for prenatal diagnosis.
Journal of medical genetics 1987;24(2):97-100.
1986: Liliana Maccioni; Renzo Galanello; R Ruggeri; R Puddu; D Rosatelli; A Marras; S Chiappe; A Macciotta; Antonio Cao
Alpha-thalassemia in premature newborns.
Pediatric research 1986;20(11):1077-81.
1986: C Rosatelli; Liliana Maccioni; M T Scalas; Antonio Cao
Pitfalls in prenatal diagnosis of beta thalassaemia.
Journal of medical genetics 1986;23(5):456-8.
1986: E Paglietti; Renzo Galanello; Paolo Moi; Mario Pirastu; Antonio Cao
Molecular pathology of haemoglobin H disease in Sardinians.
British journal of haematology 1986;63(3):485-96.
1986: Antonio Cao; A M Falchi; T Tuveri; M T Scalas; Giovanni Monni; C Rosatelli
Prenatal diagnosis of thalassemia major by fetal blood analysis: experience with 1000 cases.
Prenatal diagnosis 1986;6(3):159-67.
1986: Giovanni Monni; C Rosatelli; A M Falchi; M T Scalas; M Addis; Liliana Maccioni; A di Tucci; T Tuveri; Antonio Cao
First trimester diagnosis of beta-thalassaemia in a twin pregnancy.
Prenatal diagnosis 1986;6(1):63-8.
1985: E Paglietti; Renzo Galanello; M Addis; Antonio Cao
Genetic counseling and genetic heterogeneity in the thalassemias.
Clinical genetics 1985;28(1):1-7.
1985: Renzo Galanello; E Paglietti; Nicolina Giagu; Maria Antonietta Melis; M T Scalas; Antonio Cao
Hematological phenotype of carriers of deletion alpha-thalassemia according to the alpha-globin genotype.
Haematologica 1985;70(3):191-8.
1985: C Rosatelli; A M Falchi; T Tuveri; M T Scalas; A Di Tucci; Giovanni Monni; Antonio Cao
Prenatal diagnosis of beta-thalassaemia with the synthetic-oligomer technique.
Lancet 1985;1(8423):241-3.
1985: Stefano De Virgiliis; Fulvia Frau; G Sanna; M P Turco; A L Figus; G Cornacchia; Antonio Cao
Perinatal hepatitis B virus detection by hepatitis B virus-DNA analysis.
Archives of disease in childhood 1985;60(1):56-8.
1985: Antonio Cao; P Cossu; A M Falchi; Giovanni Monni; Mario Pirastu; C Rosatelli; M T Scalas; T Tuveri
Antenatal diagnosis of thalassemia major in Sardinia.
Annals of the New York Academy of Sciences 1985;445():380-92.
1984: Renzo Galanello; Liliana Maccioni; R Ruggeri; Luciana Perseu; Antonio Cao
Alpha thalassaemia in Sardinian newborns.
British journal of haematology 1984;58(2):361-8.
1984: Antonio Cao; L Pintus; U Lecca; G Olla; P Cossu; C Rosatelli; Renzo Galanello
Control of homozygous beta-thalassemia by carrier screening and antenatal diagnosis in Sardinians.
Clinical genetics 1984;26(1):12-22.
1984: A Figus; H E Blum; G N Vyas; S De Virgilis; Antonio Cao; M Lippi; E Lai; A Balestrieri
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: Renzo Galanello; Liliana Maccioni; Maria Cristina Rosatelli; P Ibba; A M Nurchi; Antonio Cao
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: Renzo Galanello; Maria Antonietta Melis; Liliana Maccioni; M Pirastu; Antonio Cao
Longitudinal study of a newborn with a combination of deletion and nondeletion alpha-thalassemia-2.
Pediatric research 1984;18(2):158-62.
1984: Liliana Maccioni; Renzo Galanello; Maria Antonietta Melis; Antonio Cao
Hemoglobin constitution of double heterozygotes for alpha or beta-thalassemia and Hb J Sardegna.
Hemoglobin 1984;8(5):497-507.
1984: C Rosatelli; A M Falchi; M T Scalas; T Tuveri; M Furbetta; Antonio Cao
Hematological phenotype of the double heterozygous state for alpha and beta thalassemia.
Hemoglobin 1984;8(1):25-35.
1984: C Rosatelli; A M Falchi; M T Scalas; T Tuveri; Antonio Cao
Developmental pattern of beta-chain production at midtrimester pregnancy in Sardinian beta o-thalassemia heterozygotes.
Hemoglobin 1984;8(1):17-24.
1983: Renzo Galanello; Mario Pirastu; Maria Antonietta Melis; E Paglietti; Paolo Moi; Antonio Cao
Phenotype-genotype correlation in haemoglobin H disease in childhood.
Journal of medical genetics 1983;20(6):425-9.
1983: Renzo Galanello; R Ruggeri; E Paglietti; M Addis; Maria Antonietta Melis; Antonio Cao
A family with segregating triplicated alpha globin loci and beta thalassemia.
Blood 1983;62(5):1035-40.
1983: M Furbetta; T Tuveri; C Rosatelli; A Angius; A M Falchi; P Cossu; Alessandra Meloni; Nicolina Giagu; Antonio Cao
Molecular mechanism accounting for milder types of thalassemia major.
The Journal of pediatrics 1983;103(1):35-9.
1983: Stefano De Virgiliis; P Cossu; C Toccafondi; G Sanna; Fulvia Frau; R Lobrano; G Cornacchia; Anna Lisa Nucaro; A Loi; F Bertolino; Antonio Cao
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: Carlo Cianchetti; Maria Giovanna Marrosu; P E Manconi; M Loi; Antonio Cao
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: Renzo Galanello; Maria Antonietta Melis; E Paglietti; G Cornacchia; Stefano De Virgiliis; Antonio Cao
Serum ferritin levels in hemoglobin H disease.
Acta haematologica 1983;69(1):56-8.
1982: Mario Pirastu; K Y Lee; A M Dozy; Y W Kan; G Stamatoyannopoulos; M G Hadjiminas; Z Zachariades; A Angius; M Furbetta; C Rosatelli; Antonio Cao
Alpha-thalassemia in two Mediterranean populations.
Blood 1982;60(2):509-12.
1982: Antonio Cao; Maria Antonietta Melis; Renzo Galanello; A Angius; M Furbetta; P Giordano; L F Bernini
Delta beta (F)-thalassaemia in Sardinia.
Journal of medical genetics 1982;19(3):184-92.
1982: Antonio Cao; M Furbetta; A Angius; A Ximenes; C Rosatelli; T Tuveri; M T Scalas; A M Falchi; G Angioni; F Caminiti
Haematological and obstetric aspects of antenatal diagnosis of beta-thalassaemia: experience with 200 cases.
Journal of medical genetics 1982;19(2):81-7.
1982: Antonio Cao; M Furbetta; Renzo Galanello; Maria Antonietta Melis; A Angius; C Rosatelli; R Ruggeri; M Addis; T Tuveri; A M Falchi; Liliana Maccioni; E Paglietti; M T Scalas
Control of homozygous beta-thalassemia by carrier screening and antenatal diagnosis in Sardinia.
Birth defects original article series 1982;18(7):303-11.
1982: Stefano De Virgiliis; F Argiolu; M Rais; P Cossu; C Toccafondi; G Sanna; G Cornacchia; Anna Lisa Nucaro; A Ferreli; Antonio Cao
Therapy of HBsAg-negative chronic active hepatitis in transfusion-dependent thalassemia major.
Birth defects original article series 1982;18(7):355-60.
1982: Stefano De Virgiliis; P Cossu; G Sanna; Fulvia Frau; E Loi; R Lobrano; Anna Lisa Nucaro; C Toccafondi; G Cornacchia; A Loi; Antonio Cao
Iron chelation in transfusion-dependent thalassemia with chronic hepatitis.
Acta haematologica 1982;67(1):49-56.
1981: M Furbetta; A Angius; A M Falchi; T Tuveri; A P Pertosa; Antonio Cao
Prenatal diagnosis of thalassaemia major resulting from Lepore/ beta-thalassaemia genotype.
Journal of medical genetics 1981;18(6):476-8.
1981: P Cossu; C Toccafondi; F Vardeu; G Sanna; Fulvia Frau; R Lobrano; G Cornacchia; Anna Lisa Nucaro; F Bertolino; A Loi; Stefano De Virgiliis; Antonio Cao
Iron overload and desferrioxamine chelation therapy in beta-thalassemia intermedia.
European journal of pediatrics 1981;137(3):267-71.
1981: G Sanna; Fulvia Frau; Stefano De Virgiliis; P Piu; F Bertolino; Antonio Cao
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: R F Trecartin; S A Liebhaber; J C Chang; K Y Lee; Y W Kan; M Furbetta; A Angius; Antonio Cao
beta zero thalassemia in Sardinia is caused by a nonsense mutation.
The Journal of clinical investigation 1981;68(4):1012-7.
1981: Antonio Cao; M Furbetta; Renzo Galanello; Maria Antonietta Melis; A Angius; A Ximenes; C Rosatelli; R Ruggeri; M Addis; T Tuveri; A M Falchi; E Paglietti; M T Scalas
Prevention of homozygous beta-thalassemia by carrier screening and prenatal diagnosis in Sardinia.
American journal of human genetics 1981;33(4):592-605.
1981: Renzo Galanello; Maria Antonietta Melis; R Ruggeri; Antonio Cao
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: Antonio Cao; M Furbetta; A Ximenes; A Angius; C Rosatelli; T Tuveri; M T Scalas; A M Falchi; Liliana Maccioni; Maria Antonietta Melis; Renzo Galanello
Beta-Thalassaemia types in southern Sardinia.
Journal of medical genetics 1981;18(3):196-9.
1981: Antonio Cao; Renzo Galanello; Maria Antonietta Melis; R Ruggeri; M Addis; Liliana Maccioni; E Paglietti
[Our experience in screening and genetic counseling for beta-thalassemia].
Minerva medica 1981;72(10):623-8.
1981: Antonio Cao; M Furbetta; A Angius; A Ximenes; C Rosatelli; M T Scalas; T Tuveri; A M Falchi; G Angioni; F Caminiti
[Prenatal diagnosis of beta-thalassemia major using fetal blood].
Minerva medica 1981;72(10):637-46.
1981: M Furbetta; A Angius; A Ximenes; C Rosatelli; M T Scalas; T Tuveri; A M Falchi; Antonio Cao
Difficulties in antenatal diagnosis of inherited haemoglobinopathies: gamma-chain variants.
British journal of haematology 1981;47(2):319-21.
1981: Renzo Galanello; R Ruggeri; M Addis; E Paglietti; Antonio Cao
Hemoglobin A2 in iron deficient beta-thalassemia heterozygotes.
Hemoglobin 1981;5(6):613-8.
1981: Renzo Galanello; Maria Antonietta Melis; M Furbetta; A Angius; M T Scalas; E Paglietti; Antonio Cao
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: ALESSANDRO MASSIMO GIANNI; E Polli; B Giglioni; Paola Comi; Sergio Ottolenghi; M Ferrari; M Furbetta; A Angius; Antonio Cao
Isoelectric focusing of globin chains for antenatal diagnosis of beta 0-thalassemia.
Hemoglobin 1981;5(4):349-56.
1981: M Furbetta; A Angius; T Tuveri; C Rosatelli; M T Scalas; A Ximenes; A M Falchi; Antonio Cao
Diagnosis of the beta 0 thalassemia trait at birth.
Hemoglobin 1981;5(3):217-29.
1981: Stefano De Virgiliis; G Cornacchia; G Sanna; F Argiolu; Renzo Galanello; G Fiorelli; M Rais; P Cossu; F Bertolino; Antonio Cao
Chronic liver disease in transfusion-dependent thalassemia: liver iron quantitation and distribution.
Acta haematologica 1981;65(1):32-9.
1980: Stefano De Virgiliis; G Fiorelli; S Fargion; G Cornacchia; G Sanna; P Cossu; V Murgia; Antonio Cao
Chronic liver disease in transfusion-dependent thalassaemia: hepatitis B virus marker studies.
Journal of clinical pathology 1980;33(10):949-53.
1980: Renzo Galanello; Stefano De Virgiliis; M Addis; E Paglietti; R Ruggeri; Antonio Cao
Haematological characteristics of the beta 0 thalassaemia trait in Sardinian children.
Journal of clinical pathology 1980;33(10):946-8.
1980: Renzo Galanello; G Diana; M Furbetta; A Angius; Maria Antonietta Melis; C Rosatelli; Antonio Cao
alpha-Thalassaemia in Sardinian infants.
Journal of medical genetics 1980;17(5):357-62.
1980: M Furbetta; A Angius; A Ximenes; T Tuveri; C Rosatelli; M T Scalas; R Fais; Antonio Cao; G Angioni; F Caminiti
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: Y W Kan; K Y Lee; M Furbetta; A Angius; Antonio Cao
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: Stefano De Virgiliis; G Sanna; G Cornacchia; F Argiolu; V Murgia; M Porcu; Antonio Cao
Serum ferritin, liver iron stores, and liver histology in children with thalassaemia.
Archives of disease in childhood 1980;55(1):43-5.
1980: Antonio Cao; M Furbetta; A Angius; A Ximenes; G Angioni; F Caminiti
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: Maria Antonietta Melis; C Rosatelli; A M Falchi; A Angius; M Furbetta; Renzo Galanello; Antonio Cao
Hematological characteristics of sardinian alpha-thalassemia carriers detected in a population study.
Acta haematologica 1980;63(1):32-6.