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The canine copper toxicosis gene MURR1 is not implicated in the pathogenesis of Wilson disease

Journal of gastroenterology, 2006-06, Vol.41 (6), p.582-587

2006

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HLA-DQB10201 homozygosis predisposes to severe intestinal damage in celiac disease

Scandinavian journal of gastroenterology, 2007, Vol.42 (1), p.48-53

2007

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High Incidence and Allelic Homogeneity of Wilson Disease in 2 Isolated Populations: A Prerequisite for Efficient Disease Prevention Programs

Journal of pediatric gastroenterology and nutrition, 2008-09, Vol.47 (3), p.334-338

2008

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Wilson's disease in Sardinian population: The experience of a pediatric referral center

Journal of pediatric gastroenterology and nutrition, 2024-10, Vol.79 (4), p.807-817

2024

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T Cell Epitopes of Insulin Defined in HLA-DR4 Transgenic Mice are Derived from Preproinsulin and Proinsulin

Proceedings of the National Academy of Sciences - PNAS, 1998-03, Vol.95 (7), p.3833-3838

1998

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The HLA-DPB1–Associated Component of the IDDM1 and Its Relationship to the Major Loci HLA-DQB1, -DQA1, and -DRB1

Diabetes (New York, N.Y.), 2001-05, Vol.50 (5), p.1200-1205

2001

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Acute Liver Failure Because of Wilson Disease With Overlapping Autoimmune Hepatitis Features

Journal of pediatric gastroenterology and nutrition, 2016-08, Vol.63 (2), p.e23-e24

2016

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Acute Liver Failure Because of Wilson Disease With Overlapping Autoimmune Hepatitis Features: The Coexistence of Two Diseases?

Journal of pediatric gastroenterology and nutrition, 2016-08, Vol.63 (2), p.e23-e24

2016

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Autoantibodies against CYP-2C19: A Novel Serum Marker in Pediatric De Novo Autoimmune Hepatitis?

BioMed research international, 2017-01, Vol.2017 (2017), p.1-6

2017

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Distinctive HLA-II association with primary biliary cholangitis on the Island of Sardinia

United European gastroenterology journal, 2017-06, Vol.5 (4), p.527-531

2017

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Wilson's disease in two consecutive generations: The detection of three mutated alleles in the ATP7B gene in two Sardinian families

Digestive and liver disease, 2013-04, Vol.45 (4), p.342-345

2013

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High frequency of low-risk human leukocyte antigen class II genotypes in latent celiac disease

Human immunology, 2011-02, Vol.72 (2), p.179-182

2011

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Enterocyte Actin Autoantibody Detection: A New Diagnostic Tool in Celiac Disease Diagnosis: Results of a Multicenter Study

The American journal of gastroenterology, 2004-08, Vol.99 (8), p.1551-1556

2004

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Antitissue Transglutaminase Antibodies Outside Celiac Disease

Journal of pediatric gastroenterology and nutrition, 2002-01, Vol.34 (1), p.31-34

2002

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Development of TaqMan allelic specific discrimination assay for detection of the most common Sardinian Wilson's disease mutations. Implications for genetic screening

Molecular and cellular probes, 2010-08, Vol.24 (4), p.233-235

2010

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Prevalence and Clinical Picture of Celiac Disease in Italian Down Syndrome Patients: A Multicenter Study

Journal of pediatric gastroenterology and nutrition, 2001-08, Vol.33 (2), p.139-143

2001

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Analysis of the T1288R mutation of the wilson disease ATP7B gene in four generations of a family : Possible genotype-phenotype correlation with hepatic onset

Digestive diseases and sciences, 2007-10, Vol.52 (10), p.2570-2575

2007

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Molecular characterization of Wilson disease in the Sardinian population-Evidence of a founder effect

Human mutation, 1999-01, Vol.14 (4), p.294-303

1999

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Bannayan-Riley-Ruvalcaba syndrome with reactive nodular lymphoid hyperplasia and autism and a PTEN mutation

American journal of medical genetics. Part A, 2006-09, Vol.140A (18), p.1965-1969

2006

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Decline of Lactase Activity and C/T‐13910 Variant in Sardinian Childhood

Journal of pediatric gastroenterology and nutrition, 2007-10, Vol.45 (4), p.503-506

2007

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Feasibility of RNA studies on illegitimate transcription for molecular characterization of splicing mutations in the ATP7B gene: A case report

Molecular and cellular probes, 2012-04, Vol.26 (2), p.63-65

2012

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Genome Search in Celiac Disease

American journal of human genetics, 1998-03, Vol.62 (3), p.669-675

1998

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Two cytochromes P450 are major hepatocellular autoantigens in autoimmune polyglandular syndrome type 1

Gastroenterology (New York, N.Y. 1943), 1998-02, Vol.114 (2), p.324-328

1998

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Efficient strategy for molecular diagnosis of wilson disease in the Sardinian population

Clinical chemistry (Baltimore, Md.), 2003-03, Vol.49 (3), p.496-498

2003

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The inter-regional distribution of HLA class II haplotypes indicates the suitability of the Sardinian population for case-control association studies in complex diseases

Human molecular genetics, 2000-12, Vol.9 (20), p.2959-2965

2000

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The canine copper toxicosis gene MURR1 is not implicated in the pathogenesis of Wilson disease

HLA-DQB10201 homozygosis predisposes to severe intestinal damage in celiac disease

High Incidence and Allelic Homogeneity of Wilson Disease in 2 Isolated Populations: A Prerequisite for Efficient Disease Prevention Programs

Wilson's disease in Sardinian population: The experience of a pediatric referral center

T Cell Epitopes of Insulin Defined in HLA-DR4 Transgenic Mice are Derived from Preproinsulin and Proinsulin

The HLA-DPB1–Associated Component of the IDDM1 and Its Relationship to the Major Loci HLA-DQB1, -DQA1, and -DRB1

Acute Liver Failure Because of Wilson Disease With Overlapping Autoimmune Hepatitis Features

Acute Liver Failure Because of Wilson Disease With Overlapping Autoimmune Hepatitis Features: The Coexistence of Two Diseases?

Autoantibodies against CYP-2C19: A Novel Serum Marker in Pediatric De Novo Autoimmune Hepatitis?

Distinctive HLA-II association with primary biliary cholangitis on the Island of Sardinia

Wilson's disease in two consecutive generations: The detection of three mutated alleles in the ATP7B gene in two Sardinian families

High frequency of low-risk human leukocyte antigen class II genotypes in latent celiac disease

Enterocyte Actin Autoantibody Detection: A New Diagnostic Tool in Celiac Disease Diagnosis: Results of a Multicenter Study

Antitissue Transglutaminase Antibodies Outside Celiac Disease

Development of TaqMan allelic specific discrimination assay for detection of the most common Sardinian Wilson's disease mutations. Implications for genetic screening

Prevalence and Clinical Picture of Celiac Disease in Italian Down Syndrome Patients: A Multicenter Study

Analysis of the T1288R mutation of the wilson disease ATP7B gene in four generations of a family : Possible genotype-phenotype correlation with hepatic onset

Molecular characterization of Wilson disease in the Sardinian population-Evidence of a founder effect

Bannayan-Riley-Ruvalcaba syndrome with reactive nodular lymphoid hyperplasia and autism and a PTEN mutation

Decline of Lactase Activity and C/T‐13910 Variant in Sardinian Childhood

Feasibility of RNA studies on illegitimate transcription for molecular characterization of splicing mutations in the ATP7B gene: A case report

Genome Search in Celiac Disease

Two cytochromes P450 are major hepatocellular autoantigens in autoimmune polyglandular syndrome type 1

Efficient strategy for molecular diagnosis of wilson disease in the Sardinian population

The inter-regional distribution of HLA class II haplotypes indicates the suitability of the Sardinian population for case-control association studies in complex diseases

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