Gianluca Tolva - Publications

Causative Role of the SLC6A1 p.Asp451Gly Variant in a Patient with Combined Dystonia and Neurodevelopmental Disorder.

Journal: Movement disorders clinical practice

Published: January 27, 2024

Microsatellite instability evaluation: which test to use for endometrial cancer?

Journal: Journal of clinical pathology

Published: May 27, 2021

A Meta-Analysis of Obesity and Risk of Colorectal Cancer in Patients with Lynch Syndrome: The Impact of Sex and Genetics.

Journal: Nutrients

Published: April 15, 2021

Association of Vitamin D Receptor and Vitamin D-Binding Protein Polymorphisms with Familial Breast Cancer Prognosis in a Mono-Institutional Cohort.

Journal: Nutrients

Published: March 12, 2021

Complex genomic alterations and intellectual disability: an interpretative challenge.

Journal: Journal of intellectual disability research : JIDR

Published: April 09, 2020

Is tumor testing efficiency for Lynch syndrome different in rectal and colon cancer?

Journal: Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver

Published: February 06, 2020

Response to Dominguez-Valentin M et al. 2019: Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: October 28, 2019

Unexpected phenotype in a frameshift mutation of PTCH1.

Journal: Molecular genetics & genomic medicine

Published: May 17, 2019

Tetrasomy 18p: The challenges of noninvasive prenatal testing and combined test.

Journal: The journal of obstetrics and gynaecology research

Published: April 20, 2018

Mayer-Rokitansky-Küster-Hauser Syndrome and 16p11.2 Recurrent Microdeletion: A Case Report and Review of the Literature.

Journal: Journal of pediatric and adolescent gynecology

Published: February 02, 2018

Perthes disease: A new finding in Floating-Harbor syndrome.

Journal: American journal of medical genetics. Part A

Published: June 01, 2017