Deletion of the Dystrophin Muscle-Promoter Region Associated with X-Linked Dilated Cardiomyopathy

Francesco Muntoni, Milena Cau, Antonello Ganau, +8

New England Journal of Medicine

Skeletal Myopathy5Cardiac MuscleHeart FailureGeneticsGenetic Epidemiology +14

H63D mutation in the HFE gene increases iron overload in beta-thalassemia carriers.

Maria Antonietta Melis, Milena Cau, Federica Deidda, +3

PubMed

The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study

Marcella Neri, Rachele Rossi, Cecilia Trabanelli, +51

Frontiers in Genetics

OCRLMutation analysis in Italian patients with Lowe syndrome

Maria Addis, Mario Loi, Carmen Lepiani, +2

Human Mutation

Triplet-Primed PCR Is More Sensitive than Southern Blotting–Long PCR for the Diagnosis of Myotonic Dystrophy Type1

Maria Addis, Marianna Serrenti, C. Meloni, +2

Genetic Testing and Molecular Biomarkers

UrologyGenetic TestingMendelian DisorderGenetic DisorderMedicine +13

A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome

Milena Cau, Maria Addis, Rita Congiu, +9

Journal of Human Genetics

CytogeneticsGenetic DisorderGeneticsClinical GeneticsMolecular Genetics +3

Novel nonsense mutation (C→A nt 10512) in exon 72 of dystrophin gene leading to exon skipping in a patient with a mild dystrophinopathy

Maria Antonietta Melis, Francesco Muntoni, Milena Cau, +6

Human Mutation

Rare DiseasesDystrophin GeneMendelian DisorderGenetic DisorderGenetics +7

Responsiveness to oral iron and ascorbic acid in a patient with IRIDA

Milena Cau, Renzo Galanello, N. Giagu, +1

Blood Cells Molecules and Diseases

Ascorbic AcidIron MetabolismOral IronIron DeficiencyMedicine +1

C329X in KRIT1 is a founder mutation among CCM patients in Sardinia

Milena Cau, Mario Loi, Maurizio Melis, +6

European Journal of Medical Genetics

Founder MutationCcm PatientsAutoimmune DiseaseGenetic DisorderMedicine +10

A novel interstitial deletion in Xq25, identified by array-CGH in a patient with Lowe syndrome

Maria Addis, C. Meloni, Rita Congiu, +7

European Journal of Medical Genetics

Mendelian DisorderNovel Interstitial DeletionGenetic DisorderGeneticsHematology +4