List of works - Uros Hladnik

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

scientific article published on 28 April 2017

A case of lymphedema-distichiasis syndrome carrying a new de novo frameshift FOXC2 mutation

scientific article

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

scientific article published on 21 July 2017

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

scientific article

An Italian cohort study identifies four new pathologic mutations in the ARSA gene.

scientific article published on 5 April 2013

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

scientific article published on 16 July 2010

Clinical and Molecular Characterization of Prader-Willi Syndrome.

scientific article

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

scientific article published on 10 March 2014

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

scientific article published on 12 October 2013

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

scientific article published on 16 February 2010

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

scientific article

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

scientific article

New Niemann-Pick type C1 gene mutation associated with very severe disease course and marked early cerebellar vermis atrophy.

scientific article published on 30 October 2012

Nuclear GSK-3β segregation in desmoid-type fibromatosis.

scientific article published on 24 April 2013

Quantitative evaluation of the clinical effects of S-adenosylmethionine on mood and behavior in Lesch-Nyhan patients

scientific article published in January 2013

Specific treatment of Prader-Willi syndrome through cyclical rehabilitation programmes.

scientific article

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

scientific article

Thyroid function in patients with Prader-Willi syndrome: an Italian multicenter study of 339 patients

article

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

scientific article published on August 9, 2012

Two novel homozygous SACS mutations in unrelated patients including the first reported case of paternal UPD as an etiologic cause of ARSACS

scientific article published on 18 September 2010

Variable expression of HPRT deficiency in 5 members of a family with the same mutation

scientific article

List of works by Uros Hladnik

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

A case of lymphedema-distichiasis syndrome carrying a new de novo frameshift FOXC2 mutation

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

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

An Italian cohort study identifies four new pathologic mutations in the ARSA gene.

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

Clinical and Molecular Characterization of Prader-Willi Syndrome.

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

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

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

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

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.

Quantitative evaluation of the clinical effects of S-adenosylmethionine on mood and behavior in Lesch-Nyhan patients

Specific treatment of Prader-Willi syndrome through cyclical rehabilitation programmes.

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

Thyroid function in patients with Prader-Willi syndrome: an Italian multicenter study of 339 patients

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

Two novel homozygous SACS mutations in unrelated patients including the first reported case of paternal UPD as an etiologic cause of ARSACS

Variable expression of HPRT deficiency in 5 members of a family with the same mutation