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Two new large deletions of the AVPR2 gene causing nephrogenic diabetes insipidus and a review of previously published deletions

Nephrology, dialysis, transplantation, 2012-10, Vol.27 (10), p.3705-3712

2012

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Clinical and Molecular Characterization of Prader-Willi Syndrome

Indian journal of pediatrics, 2017-11, Vol.84 (11), p.815-821

2017

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A novel ABCC6 variant causative of pseudoxanthoma elasticum

Human genome variation, 2019-06, Vol.6 (1), p.30-30, Article 30

2019

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Systematic gene-disease relationship (GDR) curation unveils 61 gene-disease associations and highlights the impact on genetic testing

Genetics in Medicine Open, 2023, Vol.1 (1), p.100833, Article 100833

2023

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A novel nonsense ATP7A pathogenic variant in a family exhibiting a variable occipital horn syndrome phenotype

Molecular genetics and metabolism reports, 2017-12, Vol.13 (C), p.14-17

2017

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Growth rate and myofibroblast differentiation of desmoid fibroblast-like cells are modulated by TGF-β signaling

Histochemistry and cell biology, 2019-02, Vol.151 (2), p.145-160

2019

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An Italian Cohort Study Identifies Four New Pathologic Mutations in the ARSA Gene

Journal of molecular neuroscience, 2013-06, Vol.50 (2), p.284-290

2013

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HIV-1 TAT-mediated protein transduction of human HPRT into deficient cells

Biochemical and biophysical research communications, 2013-11, Vol.441 (1), p.114-119

2013

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13 novel putative mutations in ATP7A found in a cohort of 25 Italian families

Metabolic brain disease, 2017-08, Vol.32 (4), p.1173-1183

2017

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Farber disease in infancy resembling juvenile idiopathic arthritis: identification of two new mutations and a good early response to allogeneic haematopoietic stem cell transplantation

Rheumatology (Oxford, England), 2014-08, Vol.53 (8), p.1533-1534

2014

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Two Novel Homozygous SACS Mutations in Unrelated Patients Including the First Reported Case of Paternal UPD as an Etiologic Cause of ARSACS

Journal of molecular neuroscience, 2011-03, Vol.43 (3), p.346-349

2011

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New Niemann-Pick Type C1 Gene Mutation Associated With Very Severe Disease Course and Marked Early Cerebellar Vermis Atrophy

Journal of child neurology, 2013-12, Vol.28 (12), p.1694-1697

2013

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Nuclear GSK-3β segregation in desmoid-type fibromatosis

Histopathology, 2013-06, Vol.62 (7), p.1098-1108

2013

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Human neural stem cells: a model system for the study of Lesch–Nyhan disease neurological aspects

Human molecular genetics, 2010-05, Vol.19 (10), p.1939-1950

2010

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Huntington's disease gene expansion associates with early onset nonprogressive chorea

Movement disorders, 2013-05, Vol.28 (5), p.684-684

2013

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Nuclear GSK-3[beta] segregation in desmoid-type fibromatosis

Histopathology, 2013-06, Vol.62 (7), p.1098

2013

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Specific treatment of Prader-Willi syndrome through cyclical rehabilitation programmes

Disability and rehabilitation, 2011, Vol.33 (19-20), p.1837-1847

2011

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Quantitative Evaluation of the Clinical Effects of S-Adenosylmethionine on Mood and Behavior in Lesch-Nyhan Patients

Nucleosides, nucleotides & nucleic acids, 2013-01, Vol.32 (4), p.174-188

2013

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Analysis of the HPRT1 gene in 35 Italian Lesch–Nyhan families: 45 patients and 77 potential female carriers

Mutation research, 2010-10, Vol.692 (1), p.1-5

2010

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Metabonomics and population studies: age-related amino acids excretion and inferring networks through the study of urine samples in two Italian isolated populations

Amino acids, 2010, Vol.38 (1), p.65-73

2010

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The Wnt/[beta]-catenin pathway in human fibrotic-like diseases and its eligibility as a therapeutic target

Molecular and cellular therapies, 2015-01, Vol.3

2015

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The Wnt/β-catenin pathway in human fibrotic-like diseases and its eligibility as a therapeutic target

Molecular and cellular therapies, 2015, Vol.3 (1), p.1-1

2015

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A Case of Lymphedema-Distichiasis Syndrome Carrying a New de novo Frameshift FOXC2 Mutation

Ophthalmic genetics, 2010-06, Vol.31 (2), p.98-100

2010

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Age-related hearing loss in four Italian genetic isolates: An epidemiological study

International journal of audiology, 2009, Vol.48 (7), p.465-472

2009

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Atypical arrhythmic complications in familial hypokalemic periodic paralysis

Journal of cardiovascular medicine (Hagerstown, Md.), 2009-01, Vol.10 (1), p.68

2009

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Two new large deletions of the AVPR2 gene causing nephrogenic diabetes insipidus and a review of previously published deletions

Clinical and Molecular Characterization of Prader-Willi Syndrome

A novel ABCC6 variant causative of pseudoxanthoma elasticum

Systematic gene-disease relationship (GDR) curation unveils 61 gene-disease associations and highlights the impact on genetic testing

A novel nonsense ATP7A pathogenic variant in a family exhibiting a variable occipital horn syndrome phenotype

Growth rate and myofibroblast differentiation of desmoid fibroblast-like cells are modulated by TGF-β signaling

An Italian Cohort Study Identifies Four New Pathologic Mutations in the ARSA Gene

HIV-1 TAT-mediated protein transduction of human HPRT into deficient cells

13 novel putative mutations in ATP7A found in a cohort of 25 Italian families

Farber disease in infancy resembling juvenile idiopathic arthritis: identification of two new mutations and a good early response to allogeneic haematopoietic stem cell transplantation

Two Novel Homozygous SACS Mutations in Unrelated Patients Including the First Reported Case of Paternal UPD as an Etiologic Cause of ARSACS

New Niemann-Pick Type C1 Gene Mutation Associated With Very Severe Disease Course and Marked Early Cerebellar Vermis Atrophy

Nuclear GSK-3β segregation in desmoid-type fibromatosis

Human neural stem cells: a model system for the study of Lesch–Nyhan disease neurological aspects

Huntington's disease gene expansion associates with early onset nonprogressive chorea

Nuclear GSK-3[beta] segregation in desmoid-type fibromatosis

Specific treatment of Prader-Willi syndrome through cyclical rehabilitation programmes

Quantitative Evaluation of the Clinical Effects of S-Adenosylmethionine on Mood and Behavior in Lesch-Nyhan Patients

Analysis of the HPRT1 gene in 35 Italian Lesch–Nyhan families: 45 patients and 77 potential female carriers

Metabonomics and population studies: age-related amino acids excretion and inferring networks through the study of urine samples in two Italian isolated populations

The Wnt/[beta]-catenin pathway in human fibrotic-like diseases and its eligibility as a therapeutic target

The Wnt/β-catenin pathway in human fibrotic-like diseases and its eligibility as a therapeutic target

A Case of Lymphedema-Distichiasis Syndrome Carrying a New de novo Frameshift FOXC2 Mutation

Age-related hearing loss in four Italian genetic isolates: An epidemiological study

Atypical arrhythmic complications in familial hypokalemic periodic paralysis

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