List of works - Katia Margiotti

"Double trouble" or an amplification of the triploidy phenotype?

scientific article

A de novo proximal 3q29 chromosome microduplication in a patient with oculo auriculo vertebral spectrum

scientific article published on 03 March 2015

Androgen-regulated genes differentially modulated by the androgen receptor coactivator L-dopa decarboxylase in human prostate cancer cells

scientific article

Association of the G289S single nucleotide polymorphism in the HSD17B3 gene with prostate cancer in Italian men.

scientific article

Biallelic mutations in DYNC2LI1 are a rare cause of Ellis-van Creveld syndrome.

scientific article

Cell-free DNA screening for aneuploidies in 7113 pregnancies: single Italian centre study

scientific article published on 16 June 2020

Evaluation of SARS-CoV-2 viral RNA in fecal samples

scientific article published on 30 June 2020

Gene expression profiling of fibroblasts from a human progeroid disease (mandibuloacral dysplasia, MAD #248370) through cDNA microarrays

scientific article published on 01 January 2004

Genetics of rotator cuff tears: no association of col5a1 gene in a case-control study

article

Genomic biomarkers, androgen pathway and prostate cancer.

scientific article published on June 2007

Giant scrotal elephantiasis: an idiopathic case

scientific article published on 01 January 2010

Heterozygous missense mutations in NFATC1 are associated with atrioventricular septal defect

scientific article published on 30 July 2018

Heterozygous nonsense ARX mutation in a family highlights the complexity of clinical and molecular diagnosis in case of chromosomal and single gene disorder co-inheritance

scientific article published on 10 June 2020

In vivo knockdown of the androgen receptor results in growth inhibition and regression of well-established, castration-resistant prostate tumors.

scientific article

Lack of pathogenic mutations in SOS1 gene in phenytoin-induced gingival overgrowth patients.

scientific article published on 5 April 2017

Pentalogy of Cantrell with Complete Ectopia Cordis in a Fetus with Asplenia ⬇️

scientific article published on August 17, 2012

Pharmacogenetics of human androgens and prostate cancer--an update.

scientific article published on April 2004

Quantification of circulating microRNAs by droplet digital PCR for cancer detection

scientific article published on 23 July 2020

Unravelling the genetic susceptibility to develop ligament and tendon injuries.

scientific article published on January 2014

p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas.

scientific article published on 5 November 2014

List of works by Katia Margiotti

"Double trouble" or an amplification of the triploidy phenotype?

A de novo proximal 3q29 chromosome microduplication in a patient with oculo auriculo vertebral spectrum

Androgen-regulated genes differentially modulated by the androgen receptor coactivator L-dopa decarboxylase in human prostate cancer cells

Association of the G289S single nucleotide polymorphism in the HSD17B3 gene with prostate cancer in Italian men.

Biallelic mutations in DYNC2LI1 are a rare cause of Ellis-van Creveld syndrome.

Cell-free DNA screening for aneuploidies in 7113 pregnancies: single Italian centre study

Evaluation of SARS-CoV-2 viral RNA in fecal samples

Gene expression profiling of fibroblasts from a human progeroid disease (mandibuloacral dysplasia, MAD #248370) through cDNA microarrays

Genetics of rotator cuff tears: no association of col5a1 gene in a case-control study

Genomic biomarkers, androgen pathway and prostate cancer.

Giant scrotal elephantiasis: an idiopathic case

Heterozygous missense mutations in NFATC1 are associated with atrioventricular septal defect

Heterozygous nonsense ARX mutation in a family highlights the complexity of clinical and molecular diagnosis in case of chromosomal and single gene disorder co-inheritance

In vivo knockdown of the androgen receptor results in growth inhibition and regression of well-established, castration-resistant prostate tumors.

Lack of pathogenic mutations in SOS1 gene in phenytoin-induced gingival overgrowth patients.

Pentalogy of Cantrell with Complete Ectopia Cordis in a Fetus with Asplenia ⬇️

Pharmacogenetics of human androgens and prostate cancer--an update.

Quantification of circulating microRNAs by droplet digital PCR for cancer detection

Unravelling the genetic susceptibility to develop ligament and tendon injuries.

p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas.