Giulia Melloni

Milan, Italy

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 11 publications

Case report: Deciphering the clinical significance of a novel partial BRCA1 exon 10 duplication in a patient with triple-negative breast cancer.

Case report: Deciphering the clinical significance of a novel partial BRCA1 exon 10 duplication in a patient with triple-negative breast cancer.

Journal: Frontiers in oncology

Published: September 17, 2024

Characterization of a New Variant in ARHGAP31 Probably Involved in Adams-Oliver Syndrome in a Family with a Variable Phenotypic Spectrum.

Characterization of a New Variant in ARHGAP31 Probably Involved in Adams-Oliver Syndrome in a Family with a Variable Phenotypic Spectrum.

Journal: Genes

Published: March 22, 2024

Simultaneous Detection of NF1, SPRED1, LZTR1, and NF2 Gene Mutations by Targeted NGS in an Italian Cohort of Suspected NF1 Patients.

Simultaneous Detection of NF1, SPRED1, LZTR1, and NF2 Gene Mutations by Targeted NGS in an Italian Cohort of Suspected NF1 Patients.

Journal: Genes

Published: May 23, 2020

Risk of Optic Pathway Glioma in Neurofibromatosis Type 1: No Evidence of Genotype-Phenotype Correlations in A Large Independent Cohort.

Risk of Optic Pathway Glioma in Neurofibromatosis Type 1: No Evidence of Genotype-Phenotype Correlations in A Large Independent Cohort.

Journal: Cancers

Published: September 28, 2019

Chiari I malformation in defined genetic syndromes in children: are there common pathways?

Chiari I malformation in defined genetic syndromes in children: are there common pathways?

Journal: Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery

Published: June 15, 2019

Correction: The absence that makes the difference: choroidal abnormalities in Legius syndrome.

Correction: The absence that makes the difference: choroidal abnormalities in Legius syndrome.

Journal: Journal of human genetics

Published: September 19, 2017

The absence that makes the difference: choroidal abnormalities in Legius syndrome.

The absence that makes the difference: choroidal abnormalities in Legius syndrome.

Journal: Journal of human genetics

Published: February 15, 2017

Delineating the Mosaic Trisomy 15 Phenotype Using a Serendipitous Mechanism as a Clue.

Delineating the Mosaic Trisomy 15 Phenotype Using a Serendipitous Mechanism as a Clue.

Journal: Cytogenetic and genome research

Published: May 18, 2015

Prenatal phenotype of Nager syndrome and Rodriguez syndrome: variable expression of the same entity?

Prenatal phenotype of Nager syndrome and Rodriguez syndrome: variable expression of the same entity?

Journal: Clinical dysmorphology

Published: July 02, 2013

Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk.

Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk.

Journal: PLoS genetics

Published: September 07, 2012

Neurofibromatosis type 1 and pregnancy: maternal complications and attitudes about prenatal diagnosis.

Neurofibromatosis type 1 and pregnancy: maternal complications and attitudes about prenatal diagnosis.

Journal: American journal of medical genetics. Part A

Published: May 14, 2012

Showing 1-11 of 11

Last Updated: 09/26/2026