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List of works by Paolo Maltese

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 novel p.(Glu111Val) missense mutation in GUCA1A associated with cone-rod dystrophy leads to impaired calcium sensing and perturbed second messenger homeostasis in photoreceptors

scientific article published on 01 December 2018

A very early diagnosis of Alstrӧm syndrome by next generation sequencing

scientific article published on 01 September 2020

Aldo-Keto Reductase 1C1 (AKR1C1) as the First Mutated Gene in a Family with Nonsyndromic Primary Lipedema

scientific article published on 29 August 2020

Central Retina Functional Damage in Usher Syndrome Type 2: 22 Years of Focal Macular ERG Analysis in a Patient Population From Central and Southern Italy

scientific article published on 01 August 2018

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

scientific article published on 17 May 2015

Comparison of 5-year progression of retinitis pigmentosa involving the posterior pole among siblings by means of SD-OCT: a retrospective study.

scientific article published on 26 June 2018

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

scientific article published on 30 November 2017

Cystic Hygroma: A Preliminary Genetic Study and a Short Review from the Literature

scientific article published on 22 November 2018

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

Endogastric capsule for E-cadherin gene (CDH1) promoter hypermethylation assessment in DNA from gastric juice of diffuse gastric cancer patients

scientific article published on 06 November 2007

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

Expanding the phenotype of thrombocytopenia absent radius syndrome with hypospadias

scientific article published on 25 February 2020

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

scientific article published on 02 June 2016

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

scientific article published on 21 December 2016

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

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

scientific article

Glucocorticoid resistance in Crohn's disease and ulcerative colitis: an association study investigating GR and FKBP5 gene polymorphisms

article

High concordance of KRAS status between primary colorectal tumors and related metastatic sites: implications for clinical practice

scientific article published on 04 December 2008

High resolution melting (HRM) analysis for the detection of ER22/23EK, BclI, and N363S polymorphisms of the glucocorticoid receptor gene.

scientific article

Increasing evidence of hereditary lymphedema caused by CELSR1 loss-of-function variants

scientific article published on 18 June 2019

Multimodal Imaging in Autosomal Dominant Cone-Rod Dystrophy Caused by Novel CRX Variant

scientific article published on 03 August 2018

Mutation profile of BBS genes in patients with Bardet-Biedl syndrome: an Italian study

scientific article published on 13 June 2019

Oguchi type I caused by a homozygous missense variation in the SAG gene

scientific article published on 27 September 2018

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

scientific article published in February 2017

Pathogenicity of new BEST1 variants identified in Italian patients with best vitelliform macular dystrophy assessed by computational structural biology

scientific article published on 01 October 2019

Pharmacogenetic profiling in patients with advanced colorectal cancer treated with first-line FOLFOX-4 chemotherapy

scientific article published on 01 April 2007

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

scientific article published on 18 May 2015

Polymorphisms in genes involved in DNA repair and metabolism of xenobiotics in individual susceptibility to sporadic diffuse gastric cancer

scientific article published on 01 January 2007

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

scientific article published on 19 August 2016

Swept source optical coherence tomography and optical coherence tomography angiography in pediatric enhanced S-cone syndrome: a case report

scientific article published on 03 October 2018

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

scientific article published on 30 March 2017

VEGF gene polymorphisms and susceptibility to colorectal cancer disease in Italian population.

scientific article

Variations in the interleukin-1 receptor antagonist gene impact on survival of patients with advanced colorectal cancer

scientific article published on 23 December 2008

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