Lista de obras - 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.

artículo científico publicado en 2006

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

artículo científico publicado en 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

artículo científico publicado en 1992

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

artículo científico publicado en 1995

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

artículo científico publicado en 2010

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

artículo científico publicado en 2014

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

artículo científico publicado en 2010

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

artículo científico publicado en 2012

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

artículo científico publicado en 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.

artículo científico publicado en 2009

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

artículo científico publicado en 1987

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

artículo científico publicado en 2002

Diagnosis of the β0Thalassemia Trait at Birth

artículo científico publicado en 1981

First trimester diagnosis of β-thalassaemia in a twin pregnancy

artículo científico publicado en 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.

artículo científico publicado en 1994

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

artículo científico publicado en 1983

Neonatal onset of nephrogenic syndrome of inappropriate antidiuresis.

artículo científico publicado en 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

artículo científico publicado en 1985

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

artículo científico publicado en 2014

Population-based genetic screening.

artículo científico publicado en 1991

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

artículo científico publicado en 2011

Prenatal diagnosis and screening of the haemoglobinopathies.

artículo científico publicado en 1998

Prenatal diagnosis of inherited hemoglobinopathies

artículo científico publicado en 1989

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

artículo científico publicado en 2007

Screening for thalassemia: a model of success.

artículo científico publicado en 2002

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

artículo científico publicado en 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

artículo científico publicado en 2006

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

artículo científico publicado en 2013

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

artículo científico publicado en 2009

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

artículo científico publicado en 1998

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

artículo científico publicado en 2012

Lista de obras de 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.

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

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

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

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

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

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

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

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

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

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

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

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

Diagnosis of the β0Thalassemia Trait at Birth

First trimester diagnosis of β-thalassaemia in a twin pregnancy

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

Genotype-phenotype correlations in beta-thalassemias.

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

Hemoglobin H disease in Sardinia: phenotypic and genetic observations

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

Molecular bases for cystic fibrosis in the Sardinian population

Molecular mechanism accounting for milder types of thalassemia major

Neonatal onset of nephrogenic syndrome of inappropriate antidiuresis.

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

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

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

Population-based genetic screening.

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

Prenatal diagnosis and screening of the haemoglobinopathies.

Prenatal diagnosis of inherited hemoglobinopathies

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

Screening for thalassemia: a model of success.

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

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

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

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

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

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

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

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