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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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All known patient mutations in the ASH-RhoGAP domains of OCRL affect targeting and APPL1 binding

Biochemical and biophysical research communications, 2008-05, Vol.369 (2), p.493-499

2008

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An atypical Dent's disease phenotype caused by co-inheritance of mutations at CLCN5 and OCRL genes

European journal of human genetics : EJHG, 2013-06, Vol.21 (6), p.687-690

2013

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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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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 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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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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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.1428-1431

2012

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Locus heterogeneity of Dent’s disease: OCRL1 and TMEM27 genes in patients with no CLCN5 mutations

Pediatric nephrology (Berlin, West), 2009-10, Vol.24 (10), p.1967-1973

2009

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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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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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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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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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X-linked dilated cardiomyopathy and the dystrophin gene

Neuromuscular disorders : NMD, 1999-07, Vol.9 (5), p.339-346

1999

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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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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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OCRLMutation analysis in Italian patients with Lowe syndrome

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

2004

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Transcription of the dystrophin gene in normal tissues and in skeletal muscle of a family with X-linked dilated cardiomyopathy

American journal of human genetics, 1995, Vol.56 (1), p.151-157

1995

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The Italian External Quality Assessment scheme for fragile x syndrome: the results of a 5-year survey

Genetic testing, 2008-06, Vol.12 (2), p.279-288

2008

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New case of contiguous gene syndrome at chromosome 8p11.2p12

American journal of medical genetics. Part A, 2005-07, Vol.136A (2), p.221-222

2005

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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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A new glucose 6 phosphate dehydrogenase variant, G6PD Sinnai (34 G→T)

Human mutation, 1998, Vol.12 (1), p.72-73

1998

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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

All known patient mutations in the ASH-RhoGAP domains of OCRL affect targeting and APPL1 binding

An atypical Dent's disease phenotype caused by co-inheritance of mutations at CLCN5 and OCRL genes

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

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

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

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

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

Locus heterogeneity of Dent’s disease: OCRL1 and TMEM27 genes in patients with no CLCN5 mutations

Iron-deficiency anemia secondary to mutations in genes controlling hepcidin

OCRL mutation analysis in Italian patients with Lowe syndrome

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

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

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

X-linked dilated cardiomyopathy and the dystrophin gene

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

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)

OCRLMutation analysis in Italian patients with Lowe syndrome

Transcription of the dystrophin gene in normal tissues and in skeletal muscle of a family with X-linked dilated cardiomyopathy

The Italian External Quality Assessment scheme for fragile x syndrome: the results of a 5-year survey

New case of contiguous gene syndrome at chromosome 8p11.2p12

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

A new glucose 6 phosphate dehydrogenase variant, G6PD Sinnai (34 G→T)

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