List of works - Matteo Bertelli

A Next Generation Sequencing custom gene panel as first line diagnostic tool for atypical cases of syndromic obesity: Application in a case of Alström syndrome.

scientific article published on 24 October 2017

A real-time PCR approach to evaluate adipogenic potential of amniotic fluid-derived human mesenchymal stem cells.

scientific article

Adenine phosphoribosyltransferase (APRT) deficiency: a new genetic mutation with early recurrent renal stone disease in kidney transplantation.

scientific article published on 2 June 2010

Bilateral Symmetry of Visual Function Loss in Cone-Rod Dystrophies.

scientific article published on July 2016

Choroidal Thickness Analysis in Patients with Usher Syndrome Type 2 Using EDI OCT.

scientific article published on 17 May 2015

Clinical Evaluation of a Custom Gene Panel as a Tool for Precision Male Infertility Diagnosis by Next-Generation Sequencing

scientific article published on 15 October 2020

Correlation of Macular Focal Electroretinogram with Ellipsoid Zone Extension in Stargardt Disease.

scientific article

Corrigendum to "Genotype-Phenotype Characterization of Novel Variants in Six Italian Patients with Familial Exudative Vitreoretinopathy".

scientific article published on 30 November 2017

Design and Validation of a New MLPA-Based Assay for the Detection of RS1 Gene Deletions and Application in a Large Family with X-Linked Juvenile Retinoschisis

scientific article published on 20 December 2016

Early impairment of the full-field photopic negative response in patients with Stargardt disease and pathogenic variants of the ABCA4 gene

scientific article published on 25 November 2017

Etiopathogenesis of sacroiliitis: implications for assessment and management

scientific article published on 01 October 2020

Expanding the Clinical and Genetic Spectrum of <i>RAB28</i>-Related Cone-Rod Dystrophy: Pathogenicity of Novel Variants in Italian Families

scientific article published on 31 December 2020

FOXC2 disease-mutations identified in lymphedema-distichiasis patients cause both loss and gain of protein function.

scientific article published on 02 June 2016

Further Insights into the Ciliary Gene and Protein KIZ and Its Murine Ortholog PLK1S1 Mutated in Rod-Cone Dystrophy.

scientific article

Gene expression and mRNA editing of serotonin receptor 2C in brains of HPRT gene knock-out mice, an animal model of Lesch-Nyhan disease.

scientific article published on 26 May 2009

Gene-Targeted Analysis of Clinically Diagnosed Long QT Russian Families.

scientific article published on 21 December 2016

Genetic counseling for teratogenic risk due to exposure to medications: 89 pregnancies conceived during oral contraceptive use

scientific article published on 01 July 2009

Genetic evaluation of AMPD1, CPT2, and PGYM metabolic enzymes in patients with chronic fatigue syndrome.

scientific article published on 29 July 2016

Genetic polymorphisms and retinal vein occlusion in an Italian population.

scientific article published on 27 October 2015

Genetic tests for low- and middle-income countries: a literature review

scientific article published on 8 February 2017

Genetic tests in lymphatic vascular malformations and lymphedema

scientific article published on 9 February 2018

Genotype-Phenotype Characterization of Novel Variants in Six Italian Patients with Familial Exudative Vitreoretinopathy.

scientific article

Increased serum resistin in adults with prader-willi syndrome is related to obesity and not to insulin resistance.

scientific article published on 3 May 2005

Late onset MLD with normal nerve conduction associated with two novel missense mutations in the ASA gene

scientific article published on April 2004

Male Infertility Diagnosis: Improvement of Genetic Analysis Performance by the Introduction of Pre-Diagnostic Genes in a Next-Generation Sequencing Custom-Made Panel

scientific article published on 01 January 2020

Molecular Aspects of Regional Pain Syndrome

scientific article published on 11 April 2020

Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in Italian Lesch-Nyhan patients: Identification of nine novel mutations

article

Multimodal Approach to Monitoring and Investigating Cone Structure and Function in an Inherited Macular Dystrophy.

scientific article published on 20 April 2015

Multimodal Study of PRPH2 Gene-Related Retinal Phenotypes

scientific article published in 2022

Mutations in the ARAP3 Gene in Three Families with Primary Lymphedema Negative for Mutations in Known Lymphedema-Associated Genes

scientific article published on 25 August 2020

NAD metabolism in HPRT-deficient mice

scientific article published on 25 March 2009

Novel mutations in the arylsulfatase A gene in eight Italian families with metachromatic leukodystrophy

scientific article published on 01 May 2006

Novel mutations of NP in two patients with purine nucleoside phosphorylase deficiency.

scientific article published on 21 November 2007

Osteoporosis-pseudoglioma syndrome: Report of two cases and a manifesting carrier

scientific article published in February 2017

Paraneoplastic Neurological Syndromes: Study of Prevalence in a Province of the Lombardy Region, Italy

scientific article published on 25 September 2020

Polymorphism of UGT1A1*28 (TA)7 and liver damage in hepatitis B virus-positive patients in Albania

scientific article published on 18 May 2015

Prevalence of mutations in LEP, LEPR, and MC4R genes in individuals with severe obesity.

scientific article published on 19 August 2016

Real-time PCR and linkage studies to identify carriers presenting HPRT deleted gene.

scientific article published on September 2006

Segregation Analysis of Rare NRP1 and NRP2 Variants in Families with Lymphedema

scientific article published on 17 November 2020

Somatic Variant Analysis Identifies Targets for Tailored Therapies in Patients with Vascular Malformations

scientific article published on 22 October 2020

Study of the adenosinergic system in the brain of HPRT knockout mouse (Lesch-Nyhan disease).

scientific article published on 17 May 2006

Syndromic and non-syndromic forms of retinitis pigmentosa: a comprehensive Italian clinical and molecular study reveals new mutations.

scientific article published on 27 October 2014

TIE1 as a Candidate Gene for Lymphatic Malformations with or without Lymphedema

scientific article published on 16 September 2020

TNFR1 -383 A˃C polymorphism and ankylosing spondylitis in a Russian Caucasian population: a preliminary study.

scientific article published on 30 March 2017

Unique combination and in silico modeling of biallelic POLR3A variants as a cause of Wiedemann-Rautenstrauch syndrome

scientific article published on 18 June 2020

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

scientific article

Variant discovery in patients with Mendelian vascular anomalies by next-generation sequencing and their use in patient clinical management.

scientific article published on 24 June 2017

List of works by Matteo Bertelli

A Next Generation Sequencing custom gene panel as first line diagnostic tool for atypical cases of syndromic obesity: Application in a case of Alström syndrome.

A real-time PCR approach to evaluate adipogenic potential of amniotic fluid-derived human mesenchymal stem cells.

Adenine phosphoribosyltransferase (APRT) deficiency: a new genetic mutation with early recurrent renal stone disease in kidney transplantation.

Bilateral Symmetry of Visual Function Loss in Cone-Rod Dystrophies.

Choroidal Thickness Analysis in Patients with Usher Syndrome Type 2 Using EDI OCT.

Clinical Evaluation of a Custom Gene Panel as a Tool for Precision Male Infertility Diagnosis by Next-Generation Sequencing

Correlation of Macular Focal Electroretinogram with Ellipsoid Zone Extension in Stargardt Disease.

Corrigendum to "Genotype-Phenotype Characterization of Novel Variants in Six Italian Patients with Familial Exudative Vitreoretinopathy".

Design and Validation of a New MLPA-Based Assay for the Detection of RS1 Gene Deletions and Application in a Large Family with X-Linked Juvenile Retinoschisis

Early impairment of the full-field photopic negative response in patients with Stargardt disease and pathogenic variants of the ABCA4 gene

Etiopathogenesis of sacroiliitis: implications for assessment and management

Expanding the Clinical and Genetic Spectrum of <i>RAB28</i>-Related Cone-Rod Dystrophy: Pathogenicity of Novel Variants in Italian Families

FOXC2 disease-mutations identified in lymphedema-distichiasis patients cause both loss and gain of protein function.

Further Insights into the Ciliary Gene and Protein KIZ and Its Murine Ortholog PLK1S1 Mutated in Rod-Cone Dystrophy.

Gene expression and mRNA editing of serotonin receptor 2C in brains of HPRT gene knock-out mice, an animal model of Lesch-Nyhan disease.

Gene-Targeted Analysis of Clinically Diagnosed Long QT Russian Families.

Genetic counseling for teratogenic risk due to exposure to medications: 89 pregnancies conceived during oral contraceptive use

Genetic evaluation of AMPD1, CPT2, and PGYM metabolic enzymes in patients with chronic fatigue syndrome.

Genetic polymorphisms and retinal vein occlusion in an Italian population.

Genetic tests for low- and middle-income countries: a literature review

Genetic tests in lymphatic vascular malformations and lymphedema

Genotype-Phenotype Characterization of Novel Variants in Six Italian Patients with Familial Exudative Vitreoretinopathy.

Increased serum resistin in adults with prader-willi syndrome is related to obesity and not to insulin resistance.

Late onset MLD with normal nerve conduction associated with two novel missense mutations in the ASA gene

Male Infertility Diagnosis: Improvement of Genetic Analysis Performance by the Introduction of Pre-Diagnostic Genes in a Next-Generation Sequencing Custom-Made Panel

Molecular Aspects of Regional Pain Syndrome

Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in Italian Lesch-Nyhan patients: Identification of nine novel mutations

Multimodal Approach to Monitoring and Investigating Cone Structure and Function in an Inherited Macular Dystrophy.

Multimodal Study of PRPH2 Gene-Related Retinal Phenotypes

Mutations in the ARAP3 Gene in Three Families with Primary Lymphedema Negative for Mutations in Known Lymphedema-Associated Genes

NAD metabolism in HPRT-deficient mice

Novel mutations in the arylsulfatase A gene in eight Italian families with metachromatic leukodystrophy

Novel mutations of NP in two patients with purine nucleoside phosphorylase deficiency.

Osteoporosis-pseudoglioma syndrome: Report of two cases and a manifesting carrier

Paraneoplastic Neurological Syndromes: Study of Prevalence in a Province of the Lombardy Region, Italy

Polymorphism of UGT1A1*28 (TA)7 and liver damage in hepatitis B virus-positive patients in Albania

Prevalence of mutations in LEP, LEPR, and MC4R genes in individuals with severe obesity.

Real-time PCR and linkage studies to identify carriers presenting HPRT deleted gene.

Segregation Analysis of Rare NRP1 and NRP2 Variants in Families with Lymphedema

Somatic Variant Analysis Identifies Targets for Tailored Therapies in Patients with Vascular Malformations

Study of the adenosinergic system in the brain of HPRT knockout mouse (Lesch-Nyhan disease).

Syndromic and non-syndromic forms of retinitis pigmentosa: a comprehensive Italian clinical and molecular study reveals new mutations.

TIE1 as a Candidate Gene for Lymphatic Malformations with or without Lymphedema

TNFR1 -383 A˃C polymorphism and ankylosing spondylitis in a Russian Caucasian population: a preliminary study.

Unique combination and in silico modeling of biallelic POLR3A variants as a cause of Wiedemann-Rautenstrauch syndrome

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

Variant discovery in patients with Mendelian vascular anomalies by next-generation sequencing and their use in patient clinical management.