Maria G. Patricelli

Milan, Italy

Last Updated: 09/26/2026

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Found 19 publications

Comprehensive genetic analysis in biliary tract cancer: a prospective single-center experience.

Comprehensive genetic analysis in biliary tract cancer: a prospective single-center experience.

Journal: ESMO gastrointestinal oncology

Published: February 06, 2026

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood.

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood.

Journal: American journal of medical genetics. Part A

Published: June 23, 2025

Growth hormone deficiency and secondary adrenal insufficiency in petrified ear syndrome: a case report and literature review.

Growth hormone deficiency and secondary adrenal insufficiency in petrified ear syndrome: a case report and literature review.

Journal: Dermatology reports

Published: January 17, 2025

Germline testing and genetic counseling in biliary tract cancer: an operative proposal to improve the state of art.

Germline testing and genetic counseling in biliary tract cancer: an operative proposal to improve the state of art.

Journal: Expert review of gastroenterology & hepatology

Published: April 08, 2024

Expanding the spectrum of neonatal-onset AIFM1-associated disorders.

Expanding the spectrum of neonatal-onset AIFM1-associated disorders.

Journal: Annals of clinical and translational neurology

Published: June 22, 2023

Behavioral Phenotype, Electroclinical Features, and Treatment Options in Twins with Lrp2 Candidate Variants (Donnay-Barrow/Foar Syndrome).

Behavioral Phenotype, Electroclinical Features, and Treatment Options in Twins with Lrp2 Candidate Variants (Donnay-Barrow/Foar Syndrome).

Journal: Case reports in genetics

Published: May 03, 2023

Case Report - Multinodular goiter in a patient with Congenital Hypothyroidism and Bannayan-Riley-Ruvalcaba syndrome: the possible synergic role of TPO and PTEN mutation.

Case Report - Multinodular goiter in a patient with Congenital Hypothyroidism and Bannayan-Riley-Ruvalcaba syndrome: the possible synergic role of TPO and PTEN mutation.

Journal: Frontiers in endocrinology

Published: April 14, 2023

PRPH2-Associated Retinopathy: Novel Variants and Genotype-Phenotype Correlations.

PRPH2-Associated Retinopathy: Novel Variants and Genotype-Phenotype Correlations.

Journal: Ophthalmology. Retina

Published: September 20, 2022

Multimodal imaging evaluation of occult macular dystrophy associated with a novel RP1L1 variant.

Multimodal imaging evaluation of occult macular dystrophy associated with a novel RP1L1 variant.

Journal: American journal of ophthalmology case reports

Published: February 08, 2022

Transcutaneous electrical stimulation therapy and genetic analysis in Dercum's disease: A pilot study.

Transcutaneous electrical stimulation therapy and genetic analysis in Dercum's disease: A pilot study.

Journal: Medicine

Published: January 22, 2021

Risk factors and clinical characteristics of early-onset colorectal cancer vs. late-onset colorectal cancer: a case-case study.

Risk factors and clinical characteristics of early-onset colorectal cancer vs. late-onset colorectal cancer: a case-case study.

Journal: European journal of gastroenterology & hepatology

Published: November 19, 2020

Oral and Fecal Microbiota in Lynch Syndrome.

Oral and Fecal Microbiota in Lynch Syndrome.

Journal: Journal of clinical medicine

Published: July 14, 2020

Showing 1-12 of 19

Last Updated: 09/26/2026