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Maria Antonietta Melis

This is a preview profile on BiomedExperts - the first literature-based scientific social network. It brings the right researchers together and allows them to collaborate online. Collexis and Dell provide the BiomedExperts network of +1.5 Million pre-calculated profiles free of charge to researchers worldwide.

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Cau Milena; Loi Mario; Melis Maurizio; Congiu Rita; Loi Alberto; Meloni Cristiana; Serrenti Marianna; Addis Maria; Melis Maria Antonietta
C329X in KRIT1 is a founder mutation among CCM patients in Sardinia.
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.
Cocco Pierluigi; Ennas Maria G; Melis Maria A; Sollaino Carla; Collu Stefania; Fadda Domenica; Gabbas Attilio; Massarelli Giovannino; Rais Marco; Todde Pierfelice; Angelucci Emanuele
Glucose-6-phosphate dehydrogenase polymorphism and lymphoma risk.

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2009: Cau Milena; Loi Mario; Melis Maurizio; Congiu Rita; Loi Alberto; Meloni Cristiana; Serrenti Marianna; Addis Maria; Melis Maria Antonietta
C329X in KRIT1 is a founder mutation among CCM patients in Sardinia.
European journal of medical genetics 2009;52(5):344-8.
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.
2007: Cocco Pierluigi; Ennas Maria G; Melis Maria A; Sollaino Carla; Collu Stefania; Fadda Domenica; Gabbas Attilio; Massarelli Giovannino; Rais Marco; Todde Pierfelice; Angelucci Emanuele
Glucose-6-phosphate dehydrogenase polymorphism and lymphoma risk.
Tumori 2007;93(2):121-3.
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.
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.
2005: Cau M; Congiu R; Origa R; Galanello R; Melis M A; Nucaro A L
New case of contiguous gene syndrome at chromosome 8p11.2p12.
American journal of medical genetics. Part A 2005;136(2):221-2.
2004: Addis Maria; Loi Mario; Lepiani Carmen; Cau Milena; Melis Maria Antonietta
OCRL mutation analysis in Italian patients with Lowe syndrome.
Human mutation 2004;23(5):524-5.
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.
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.
1999: Ferlini A; Sewry C; Melis M A; Mateddu A; Muntoni F
X-linked dilated cardiomyopathy and the dystrophin gene.
Neuromuscular disorders : NMD 1999;9(5):339-46.
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.
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.
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.
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.
1997: Muntoni F; Di Lenarda A; Porcu M; Sinagra G; Mateddu A; Marrosu G; Ferlini A; Cau M; Milasin J; Melis M A; Marrosu M G; Cianchetti C; Sanna A; Falaschi A; Camerini F; Giacca M; Mestroni L
Dystrophin gene abnormalities in two patients with idiopathic dilated cardiomyopathy.
Heart (British Cardiac Society) 1997;78(6):608-12.
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.
1995: Muntoni F; Melis M A; Ganau A; Dubowitz V
Transcription of the dystrophin gene in normal tissues and in skeletal muscle of a family with X-linked dilated cardiomyopathy.
American journal of human genetics 1995;56(1):151-7.
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: 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.
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.
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.
1992: Serra M; Foddi M C; Ghiani C A; Melis M A; Motzo C; Concas A; Sanna E; Biggio G
Pharmacology of gamma-aminobutyric acidA receptor complex after the in vivo administration of the anxioselective and anticonvulsant beta-carboline derivative abecarnil.
The Journal of pharmacology and experimental therapeutics 1992;263(3):1360-8.
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: 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: Galanello R; Aru B; Dessì C; Addis M; Paglietti E; Melis M A; Cocco S; Massa P; Giagu N; Barella S
HbH disease in Sardinia: molecular, hematological and clinical aspects.
Acta haematologica 1992;88(1):1-6.
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.
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: 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.
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: Galanello R; Dessi E; Melis M A; Addis M; Sanna M A; Rosatelli C; Argiolu F; Giagu N; Turco M P; Cacace E
Molecular analysis of beta zero-thalassemia intermedia in Sardinia.
Blood 1989;74(2):823-7.
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: 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: Romeo G; Devoto M; Archidiacono N; Ferlini A; Roncuzzi L; Melis M A; Paderi E; Ferrari M; Tedeschi S; Galluzzi G
Italian experience regarding the prevention of Duchenne and Becker muscular dystrophies.
European journal of pediatrics 1988;147(4):412-5.
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.
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.
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: Galanello R; Paglietti E; Melis M A; Giagu L; Cao A
Hemoglobin inclusions in heterozygous alpha-thalassemia according to their alpha-globin genotype.
Acta haematologica 1984;72(1):34-6.
1983: Galanello R; Paglietti E; Giagu L; Melis M A; Scalas M T; Cao A
Phenotypic manifestations of heterozygous non-deletion alpha-thalassaemia (alpha alpha/(alpha alpha)th) in Sardinians.
British journal of haematology 1983;55(4):711-3.
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: Melis M A; Pirastu M; Galanello R; Furbetta M; Tuveri T; Cao A
Phenotypic effect of heterozygous alpha and beta 0-thalassemia interaction.
Blood 1983;62(1):226-9.
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: 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; 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.
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: Galanello R; Furbetta M; Melis M A; Rosatelli C; Cao A
Interaction of alpha- and delta beta o- thalassaemia: haematological features and globin chain synthesis analysis.
Journal of medical genetics 1981;18(1):40-2.
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.
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: Sanna G; Frau F; Melis M A; Galanello R; De Virgiliis S; Cao A
Interaction between the glucose-6-phosphate dehydrogenase deficiency and thalassaemia genes at phenotype level.
British journal of haematology 1980;44(4):555-61.
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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Maria Antonietta Melis

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