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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 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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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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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.1428-1431

2012

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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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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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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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OCRL mutation analysis in Italian patients with Lowe syndrome

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

2004

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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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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 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

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

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

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

Iron-deficiency anemia secondary to mutations in genes controlling hepcidin

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

OCRL mutation analysis in Italian patients with Lowe syndrome

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

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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