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Giant prolactinomas in men: efficacy of cabergoline treatment

Clinical endocrinology (Oxford), 2003-05, Vol.58 (5), p.662-670

2003

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Medullary Thyroid Carcinoma With Exon 2 p.L56M RET Variant: Clinical Particular Features in Two Patients

Frontiers in endocrinology (Lausanne), 2018-07, Vol.9, p.398

2018

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Effect of linseed supplementation of the gestation and lactation diets of dairy ewes on the growth performance and the intramuscular fatty acid composition of their lambs

Animal (Cambridge, England), 2015-05, Vol.9 (5), p.800-809

2015

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Long-term results of treatment in patients with ACTH-secreting pituitary macroadenomas

European journal of endocrinology, 2003-09, Vol.149 (3), p.195-200

2003

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Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations

Journal of medical genetics, 1999-11, Vol.36 (11), p.833-836

1999

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Abnormal mRNA splicing resulting from consensus sequence splicing mutations of ATP7B

Human mutation, 2002-10, Vol.20 (4), p.260-266

2002

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Levothyroxine therapy in preventing nodular recurrence after hemithyroidectomy: A retrospective study

Journal of endocrinological investigation, 2009-04, Vol.32 (4), p.330-334

2009

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Direct Diagnosis of Wilson Disease by Molecular Genetics

The Journal of pediatrics, 2006, Vol.148 (1), p.138-140

2006

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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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Molecular and biochemical data on some glucose-6-phosphate dehydrogenase variants from southern Sardinia

Haematologica (Roma), 1994-07, Vol.79 (4), p.319

1994

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Early and severe neurological features in a Wilson disease patient compound heterozygous for two frameshift mutations

European journal of pediatrics, 1998-02, Vol.157 (2), p.128-129

1998

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Twenty-four novel mutations in Wilson disease patients of predominantly Italian origin

Genetic testing, 2007-09, Vol.11 (3), p.328-332

2007

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RNA analysis of consensus sequence splicing mutations: implications for the diagnosis of Wilson disease

Genetic testing and molecular biomarkers, 2009-04, Vol.13 (2), p.185-191

2009

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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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Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations

American journal of human genetics, 1995-12, Vol.57 (6), p.1318-1324

1995

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Further delineation of the molecular pathology of Wilson disease in the Mediterranean population

Human mutation, 1998, Vol.12 (2), p.89-94

1998

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Haplotype and mutation analysis in Greek patients with Wilson disease

European journal of human genetics : EJHG, 1998-09, Vol.6 (5), p.487-491

1998

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P0189 THE CANINE COPPER TOXICOSIS GENE MURR1 IS NOT IMPLICATED IN THE PATHOGENESIS OF WILSON DISEASE

Journal of pediatric gastroenterology and nutrition, 2004-06, Vol.39 (Supplement 1), p.S130

2004

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P0189 THE CANINE COPPER TOXICOSIS GENE MURR1 IS NOT IMPLICATED IN THE PATHOGENESIS OF WILSON DISEASE

Journal of pediatric gastroenterology and nutrition, 2004-06, Vol.39 (S1), p.S130-S130

2004

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Abnormal mRNA splicing resulting from consensus sequence splicing mutations of ATP7B: ATP7B ABNORMAL SPLICING IN WILSON DISEASE

Human mutation, 2002-10, Vol.20 (4), p.260-266

2002

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P0182 THE DEVELOPMENT OF APPROPRIATE STRATEGIES AND METHODS FOR MUTATION ANALYSIS IN THE ATP7B GENE

Journal of pediatric gastroenterology and nutrition, 2004-06, Vol.39 (Supplement 1), p.S127-S128

2004

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P0182 THE DEVELOPMENT OF APPROPRIATE STRATEGIES AND METHODS FOR MUTATION ANALYSIS IN THE ATP7B GENE

Journal of pediatric gastroenterology and nutrition, 2004-06, Vol.39 (S1), p.S127-S128

2004

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Wilson disease mutations associated with uncommon haplotypes in mediterranean patients

Human genetics, 1996-12, Vol.98 (6), p.640-642

1996

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G-6-PD Cagliari II: a new G-6-PD variant

Haematologica (Roma), 1987-05, Vol.72 (3), p.241

1987

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First case of V281+I172N/V281L CYP21A2 genotype associated with congenital adrenal hyperplasia form. A case report from South Italy

Clinical biochemistry, 2007-12, Vol.40 (18), p.1435-1436

2007

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Giant prolactinomas in men: efficacy of cabergoline treatment

Medullary Thyroid Carcinoma With Exon 2 p.L56M RET Variant: Clinical Particular Features in Two Patients

Effect of linseed supplementation of the gestation and lactation diets of dairy ewes on the growth performance and the intramuscular fatty acid composition of their lambs

Long-term results of treatment in patients with ACTH-secreting pituitary macroadenomas

Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations

Abnormal mRNA splicing resulting from consensus sequence splicing mutations of ATP7B

Levothyroxine therapy in preventing nodular recurrence after hemithyroidectomy: A retrospective study

Direct Diagnosis of Wilson Disease by Molecular Genetics

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

Molecular and biochemical data on some glucose-6-phosphate dehydrogenase variants from southern Sardinia

Early and severe neurological features in a Wilson disease patient compound heterozygous for two frameshift mutations

Twenty-four novel mutations in Wilson disease patients of predominantly Italian origin

RNA analysis of consensus sequence splicing mutations: implications for the diagnosis of Wilson disease

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

Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations

Further delineation of the molecular pathology of Wilson disease in the Mediterranean population

Haplotype and mutation analysis in Greek patients with Wilson disease

P0189 THE CANINE COPPER TOXICOSIS GENE MURR1 IS NOT IMPLICATED IN THE PATHOGENESIS OF WILSON DISEASE

P0189 THE CANINE COPPER TOXICOSIS GENE MURR1 IS NOT IMPLICATED IN THE PATHOGENESIS OF WILSON DISEASE

Abnormal mRNA splicing resulting from consensus sequence splicing mutations of ATP7B: ATP7B ABNORMAL SPLICING IN WILSON DISEASE

P0182 THE DEVELOPMENT OF APPROPRIATE STRATEGIES AND METHODS FOR MUTATION ANALYSIS IN THE ATP7B GENE

P0182 THE DEVELOPMENT OF APPROPRIATE STRATEGIES AND METHODS FOR MUTATION ANALYSIS IN THE ATP7B GENE

Wilson disease mutations associated with uncommon haplotypes in mediterranean patients

G-6-PD Cagliari II: a new G-6-PD variant

First case of V281+I172N/V281L CYP21A2 genotype associated with congenital adrenal hyperplasia form. A case report from South Italy

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