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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 (Roma), 2008-10, Vol.93 (10), p.1473-1479

2008

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Homozygous deletion of HFE is the common cause of hemochromatosis in Sardinia

Haematologica (Roma), 2010-04, Vol.95 (4), p.685-687

2010

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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, 2006-11, Vol.51 (11), p.1030-1036

2006

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Homozygous deletion of the major alpha-globin regulatory element (MCS-R2) responsible for a severe case of hemoglobin H disease

Blood, 2010-09, Vol.116 (12), p.2193-2194

2010

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Iron-deficiency anemia secondary to mutations in genes controlling hepcidin

Expert Review of Hematology, 2010-04, Vol.3 (2), p.205-216

2010

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

The New England journal of medicine, 1993-09, Vol.329 (13), p.921-925

1993

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Brief report : deletion of the dystrophin muscle-promoter region associated with X-linked dilated cardiomyopathy

The New England journal of medicine, 1993-09, Vol.329 (13), p.921-925

1993

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

European journal of medical genetics, 2009-09, Vol.52 (5), p.344-348

2009

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

European journal of medical genetics, 2007-01, Vol.50 (1), p.79-84

2007

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Mesangiolysis and endothelial lesions due to peroxidative damage in rabbits

Nephron (2015), 1989, Vol.51 (2), p.250-256

1989

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Variable dystrophin expression in different muscles of a Duchenne muscular dystrophy carrier

Clinical genetics, 1992-07, Vol.42 (1), p.35-38

1992

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Germinal mosaicism in a Duchenne muscular dystrophy family: implications for genetic counselling

Clinical genetics, 1993-05, Vol.43 (5), p.247-249

1993

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Frequency of hemochromatosis C282Y and H63D mutations in Sardinia

Genetic testing, 2002, Vol.6 (4), p.327-329

2002

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Social Support at School for Students with Sensory Disabilities

International journal of environmental research and public health, 2024-08, Vol.21 (8), p.1071

2024

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Different profiles of acute graft pyelonephritis among kidney recipients from standard or elderly donors

Frontiers in medicine, 2024-05, Vol.11, p.1342992-1342992

2024

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Mediterranean Bioconstructions Along the Italian Coast

Advances in marine biology, 2018, Vol.79, p.61-136

2018

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Longitudinal Study on Seasonal Variation of Marine Biotoxins and Related Harmful Algae in Bivalve Mollusks Bred in Sardinia (Italy, W Mediterranean Sea) from 2015 to 2020 and Assessment of Potential Public Health Risks

Journal of marine science and engineering, 2021-05, Vol.9 (5), p.510

2021

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New evidence of pectenotoxins in farmed bivalve molluscs from Sardinia (Italy)

Italian journal of food safety, 2021-06, Vol.10 (2)

2021

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Multiple Organ Dysfunction Syndrome (MODS) induced by Candida krusei in an Aldabra giant tortoise ( Aldabrachelys gigantea) and confirmed by electron microscopy analysis

Medical mycology case reports, 2018-09, Vol.21, p.44-48

2018

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A population genomics insight by 2b-RAD reveals populations' uniqueness along the Italian coastline in Leptopsammia pruvoti (Scleractinia, Dendrophylliidae)

Diversity & distributions, 2019-07, Vol.25 (7), p.1101-1117

2019

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Role of centers with different patient volumes in the management of rhabdomyosarcoma. An analysis by the Italian Pediatric Soft Tissue Sarcoma Committee

Pediatric blood & cancer, 2021-12, Vol.68 (12), p.e29234-n/a

2021

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Genomic Resources Notes accepted 1 April 2015 – 31 May 2015

Molecular ecology resources, 2015-09, Vol.15 (5), p.1256-1257

2015

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IDPlanT: the Italian database of plant translocation

Plant biosystems, 2021-11, Vol.155 (6), p.1174-1177

2021

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C9ORF72 repeat expansion and bipolar disorder - is there a link? No mutation detected in a Sardinian cohort of patients with bipolar disorder

Bipolar disorders, 2014-09, Vol.16 (6), p.667-668

2014

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A mutation in the TMPRSS6 gene, encoding a transmembrane serine protease that suppresses hepcidin production, in familial iron deficiency anemia refractory to oral iron

Homozygous deletion of HFE is the common cause of hemochromatosis in Sardinia

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

Homozygous deletion of the major alpha-globin regulatory element (MCS-R2) responsible for a severe case of hemoglobin H disease

Iron-deficiency anemia secondary to mutations in genes controlling hepcidin

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

Brief report : deletion of the dystrophin muscle-promoter region associated with X-linked dilated cardiomyopathy

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

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

Mesangiolysis and endothelial lesions due to peroxidative damage in rabbits

Variable dystrophin expression in different muscles of a Duchenne muscular dystrophy carrier

Germinal mosaicism in a Duchenne muscular dystrophy family: implications for genetic counselling

Frequency of hemochromatosis C282Y and H63D mutations in Sardinia

Social Support at School for Students with Sensory Disabilities

Different profiles of acute graft pyelonephritis among kidney recipients from standard or elderly donors

Mediterranean Bioconstructions Along the Italian Coast

Longitudinal Study on Seasonal Variation of Marine Biotoxins and Related Harmful Algae in Bivalve Mollusks Bred in Sardinia (Italy, W Mediterranean Sea) from 2015 to 2020 and Assessment of Potential Public Health Risks

New evidence of pectenotoxins in farmed bivalve molluscs from Sardinia (Italy)

Multiple Organ Dysfunction Syndrome (MODS) induced by Candida krusei in an Aldabra giant tortoise ( Aldabrachelys gigantea) and confirmed by electron microscopy analysis

A population genomics insight by 2b-RAD reveals populations' uniqueness along the Italian coastline in Leptopsammia pruvoti (Scleractinia, Dendrophylliidae)

Role of centers with different patient volumes in the management of rhabdomyosarcoma. An analysis by the Italian Pediatric Soft Tissue Sarcoma Committee

The Addition of Bortezomib to R-DHAP Does Not Improve the Response Pre-Stem Cell Transplantation Compared to Standard R-DHAP in Young Patients with Relapsed/Refractory Diffuse Large B-Cell Lymphoma: Preliminary Results of the Phase II Randomized Trial FIL-VERAL12 of the Fondazione Italiana Linfomi

Genomic Resources Notes accepted 1 April 2015 – 31 May 2015

IDPlanT: the Italian database of plant translocation

C9ORF72 repeat expansion and bipolar disorder - is there a link? No mutation detected in a Sardinian cohort of patients with bipolar disorder

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