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

Frontiers in genetics, 2020-03, Vol.11, p.131-131

2020

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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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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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Danon disease in a Sardinian family: different aspects of the same mutation—a case report

European heart journal : case reports, 2023-05, Vol.7 (5), p.ytad237

2023

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

Blood cells, molecules, & diseases, 2012-02, Vol.48 (2), p.121-123

2012

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The V736A TMPRSS6 polymorphism influences liver iron concentration in nontransfusion‐dependent thalassemias

American journal of hematology, 2015-12, Vol.90 (12), p.E225-E226

2015

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Cerebral Cavernous Malformations and Unilateral Moyamoya in a Patient with a New Mutation in the KRIT-1/CCM1 Gene

Cerebrovascular diseases (Basel, Switzerland), 2014-01, Vol.38 (4), p.311-312

2014

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A new deletion in 5′-end of dystrophin gene removing M and P promoters and dystrophin muscle enhancers

Gene, 2012-12, Vol.511 (2), p.437-440

2012

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Triplet-primed PCR is more sensitive than southern blotting-long PCR for the diagnosis of myotonic dystrophy type1

Genetic testing and molecular biomarkers, 2012-12, Vol.16 (12), p.1428

2012

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

Haematologica (Roma), 2002-03, Vol.87 (3), p.242

2002

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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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OCRL mutation analysis in Italian patients with Lowe syndrome

Human mutation, 2004-05, Vol.23 (5), p.524-525

2004

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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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OCRLMutation analysis in Italian patients with Lowe syndrome

Human mutation, 2004-05, Vol.23 (5), p.524-525

2004

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Danon disease in a Sardinian family: different aspects of the same mutation-a case report

European heart journal. Case reports, 2023, Vol.7 (5), p.ytad237-ytad237

2023

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Turner syndrome mosaicism: an unusual case with a de novo large dicentric marker chromosome: mos 45,X/46,X, ter rea(X;X)(p22.3;p22.3)

Journal of applied genetics, 2008-01, Vol.49 (3), p.301-303

2008

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Dystrophin gene abnormalities in two patients with idiopathic dilated cardiomyopathy

Heart (British Cardiac Society), 1997-12, Vol.78 (6), p.608-612

1997

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

Human mutation, 1998, Vol.11 (S1), p.S137-S138

1998

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Two novel mutations (10410 T→G; 10296 del C) at carboxy-terminus of the dystrophin gene associated with mental retardation

Human mutation, 1998, Vol.12 (1), p.70-70

1998

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

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

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

Danon disease in a Sardinian family: different aspects of the same mutation—a case report

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

The V736A TMPRSS6 polymorphism influences liver iron concentration in nontransfusion‐dependent thalassemias

Cerebral Cavernous Malformations and Unilateral Moyamoya in a Patient with a New Mutation in the KRIT-1/CCM1 Gene

A new deletion in 5′-end of dystrophin gene removing M and P promoters and dystrophin muscle enhancers

Triplet-primed PCR is more sensitive than southern blotting-long PCR for the diagnosis of myotonic dystrophy type1

Iron-deficiency anemia secondary to mutations in genes controlling hepcidin

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

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

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

OCRL mutation analysis in Italian patients with Lowe syndrome

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

OCRLMutation analysis in Italian patients with Lowe syndrome

Danon disease in a Sardinian family: different aspects of the same mutation-a case report

Turner syndrome mosaicism: an unusual case with a de novo large dicentric marker chromosome: mos 45,X/46,X, ter rea(X;X)(p22.3;p22.3)

Dystrophin gene abnormalities in two patients with idiopathic dilated cardiomyopathy

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

Two novel mutations (10410 T→G; 10296 del C) at carboxy-terminus of the dystrophin gene associated with mental retardation

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

Frequency of hemochromatosis C282Y and H63D mutations in Sardinia

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