The Italian External Quality Control Programme for cystic fibrosis molecular diagnosis: 4 years of activity.
- Published in:
- Clinical Chemistry & Laboratory Medicine, 2007, v. 45, n. 2, p. 254, doi. 10.1515/CCLM.2007.053
- By:
- Publication type:
- Article
Works matching AU Rosatelli, Maria
Results: 18
1
2
Thalassaemia-like carriers not linked to the β-globin gene cluster.
- Published in:
- British Journal of Haematology, 2006, v. 132, n. 5, p. 640, doi. 10.1111/j.1365-2141.2005.05915.x
- By:
- Publication type:
- Article
3
A novel silentβ-thalassemia mutation in the distal CACCC box affects the binding and responsiveness to EKLF.
- Published in:
- British Journal of Haematology, 2004, v. 126, n. 6, p. 881, doi. 10.1111/j.1365-2141.2004.05146.x
- By:
- Publication type:
- Article
4
Antenatal Diagnosis of β-Thalassemia in Sardinia<sup>a</sup>.
- Published in:
- Annals of the New York Academy of Sciences, 1990, v. 612, n. 1, p. 215, doi. 10.1111/j.1749-6632.1990.tb24309.x
- By:
- Publication type:
- Article
5
A promoter mutation, C → T at position -92, leading to silent /3-thalassaemia.
- Published in:
- British Journal of Haematology, 1995, v. 90, n. 2, p. 483, doi. 10.1111/j.1365-2141.1995.tb05182.x
- By:
- Publication type:
- Article
6
Homozygous β-thalassaemia resulting in the β-thalassaemia carrier state phenotype.
- Published in:
- British Journal of Haematology, 1994, v. 88, n. 3, p. 562, doi. 10.1111/j.1365-2141.1994.tb05074.x
- By:
- Publication type:
- Article
7
Erythropoiesis following bone marrow transplantation from donors heterozygous for β-thalassaemia.
- Published in:
- British Journal of Haematology, 1989, v. 72, n. 4, p. 561, doi. 10.1111/j.1365-2141.1989.tb04324.x
- By:
- Publication type:
- Article
8
Delineation of the Molecular Defects in the AIRE Gene in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Patients from Southern Italy.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2002, v. 87, n. 2, p. 841, doi. 10.1210/jcem.87.2.8209
- By:
- Publication type:
- Article
9
Spinal muscular atrophy genotyping by gene dosage using multiple ligation-dependent probe amplification.
- Published in:
- Neurogenetics, 2006, v. 7, n. 4, p. 269, doi. 10.1007/s10048-006-0051-3
- By:
- Publication type:
- Article
10
AIRE acetylation and deacetylation: effect on protein stability and transactivation activity.
- Published in:
- Journal of Biomedical Science, 2014, v. 21, n. 1, p. 1, doi. 10.1186/s12929-014-0085-z
- By:
- Publication type:
- Article
11
Pitfalls in noninvasive fetal RhD and sex determination due to a vanishing twin.
- Published in:
- Prenatal Diagnosis, 2015, v. 35, n. 5, p. 506, doi. 10.1002/pd.4489
- By:
- Publication type:
- Article
12
Preimplantation genetic diagnosis for β-thalassaemia: the Sardinian experience.
- Published in:
- Prenatal Diagnosis, 2004, v. 24, n. 12, p. 949, doi. 10.1002/pd.1051
- By:
- Publication type:
- Article
13
New frameshift mutation in the DAX-1 gene in a patient with X-linked adrenal hypoplasia and hypogonadotropic hypogonadism.
- Published in:
- Human Mutation, 1996, v. 8, n. 2, p. 183, doi. 10.1002/(SICI)1098-1004(1996)8:2<183::AID-HUMU12>3.0.CO;2-Z
- By:
- Publication type:
- Article
14
A novel β-thalassemia mutation: Frameshift at codon 59 detected in an Italian carrier.
- Published in:
- Human Mutation, 1994, v. 3, n. 3, p. 309, doi. 10.1002/humu.1380030322
- By:
- Publication type:
- Article
15
Neonatal onset of nephrogenic syndrome of inappropriate antidiuresis.
- Published in:
- 2008
- By:
- Publication type:
- Report
16
Vitamin D Responsive Elements within the HLA-DRB1 Promoter Region in Sardinian Multiple Sclerosis Associated Alleles.
- Published in:
- PLoS ONE, 2012, v. 7, n. 7, p. 1, doi. 10.1371/journal.pone.0041678
- By:
- Publication type:
- Article
17
Immunophenotypic Characterisation of Peripheral Blood Lymphocytes in Autoimmune Polyglandular Syndrome Type 1: Clinical Study and Review of the Literature.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2005, v. 18, n. 2, p. 155, doi. 10.1515/jpem.2005.18.2.155
- By:
- Publication type:
- Article
18
β-defensin CNV is not associated with susceptibility to Candida albicans infections in Sardinian APS I patients.
- Published in:
- 2017
- By:
- Publication type:
- journal article