Katia Margiotti

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

Valentina Pinna, Paola Daniele, Federica Consoli et al. · European Journal of Human Genetics · 2014 · 135 citations · Full text

Medicine, Genetics, Molecular Genetics +9

<i>In vivo</i> Knockdown of the Androgen Receptor Results in Growth Inhibition and Regression of Well-Established, Castration-Resistant Prostate Tumors

Robert Snoek, Helen Cheng, Katia Margiotti et al. · Clinical Cancer Research · 2008 · 128 citations

Life Sciences, Molecular Genetics, Oncology +17

The genetics of sports injuries and athletic performance.

Nicola Maffulli, Katia Margiotti, Umile Giuseppe Longo et al. · PubMed · 2013 · 75 citations

Medicine, Genetics, Molecular Genetics +16

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

Valentina Guida, Lorenzo Sinibaldi, Mario Pagnoni et al. · American Journal of Medical Genetics Part A · 2015 · 56 citations

Life Sciences, Genetics, Molecular Genetics +17

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

Katia Margiotti, Eugene S. Kim, Celeste Leigh Pearce et al. · The Prostate · 2002 · 55 citations

Life Sciences, Endocrinology, Genetics +13