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List of works by 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.

scientific article published on September 2006

A novel pattern of uridine diphosphate glucuronosyltransferase polymorphisms associated with hyperbilirubinemia during nilotinib treatment

scientific article published on 13 June 2013

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

scientific article published on 01 September 2004

A simple electrophoretic procedure for fetal diagnosis of beta-thalassaemia due to short deletions

scientific article published on 01 November 1992

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

scientific article

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

scientific article

AIRE acetylation and deacetylation: effect on protein stability and transactivation activity

scientific article published on 27 August 2014

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

scientific article published on 01 February 2010

Autoimmune polyendocrine syndrome type 1: an extensive longitudinal study in Sardinian patients.

scientific article published on 16 February 2012

Autosomal dominant Alport syndrome: molecular analysis of the COL4A4 gene and clinical outcome.

scientific article published on 7 January 2009

Characterization of a disease-associated mutation affecting a putative splicing regulatory element in intron 6b of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

scientific article published on 15 September 2009

Chorionic villus sampling by rigid forceps: experience with 300 cases at risk for thalassemia major

scientific article published on 01 April 1987

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

scientific article published on 01 February 2002

Diagnosis of the β0Thalassemia Trait at Birth

scientific article published on 01 January 1981

First trimester diagnosis of β-thalassaemia in a twin pregnancy

scientific article published on 01 January 1986

Genotype of subjects with borderline hemoglobin A2 levels: implication for beta-thalassemia carrier screening

scientific article published on 01 June 1994

Genotype-phenotype correlations in beta-thalassemias.

scientific article

Hematological Phenotype of the Double Heterozygous State for Alpha and Beta Thalassemia

scientific article published on 01 January 1984

Hemoglobin H disease in Sardinia: phenotypic and genetic observations

scientific article published on 01 January 1978

Homozygous beta zero-39 mutation with thalassemia intermedia in northern Sardinia: clinical, hematological and molecular analysis

scientific article published on 01 January 1988

Molecular bases for cystic fibrosis in the Sardinian population

scientific article published on 01 September 1990

Molecular mechanism accounting for milder types of thalassemia major

scientific article published on 01 July 1983

Neonatal onset of nephrogenic syndrome of inappropriate antidiuresis.

scientific article published on 12 July 2008

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

scientific article published on 01 January 1996

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

scientific article published in The Lancet

Pitfalls in noninvasive fetal RhD and sex determination due to a vanishing twin.

scientific article

Population-based genetic screening.

scientific article published on June 1991

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

scientific article published on 22 March 2011

Prenatal diagnosis and screening of the haemoglobinopathies.

scientific article published in March 1998

Prenatal diagnosis of inherited hemoglobinopathies

scientific article published on 01 November 1989

Role of PHD fingers and COOH-terminal 30 amino acids in AIRE transactivation activity

scientific article published on 01 August 2007

Screening for thalassemia: a model of success.

scientific article

Short communication: novel truncating mutations in the CFTR gene causing a severe form of cystic fibrosis in Italian patients.

scientific article published on 14 November 2014

Spinal muscular atrophy genotyping by gene dosage using multiple ligation-dependent probe amplification

article

Thalassaemia-like carriers not linked to the beta-globin gene cluster

scientific article published on 01 March 2006

The Italian National External quality assessment program in molecular genetic testing: results of the VII round (2010-2011).

scientific article published on 29 January 2013

The Italian scheme of External Quality Assessment for beta-thalassemia: genotyping and reporting results and testing strategies in a 5-year survey

scientific article

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

scientific article

UGT1A1 genotype in a white boy with Crigler-Najjar syndrome type 2

scientific article published on 01 November 2012

Vitamin D responsive elements within the HLA-DRB1 promoter region in Sardinian multiple sclerosis associated alleles

scientific article

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