Paola Daniele

San Giovanni Rotondo, Italy

Last Updated: 09/26/2026

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Found 15 publications

Domain-specific phenotypic profiles in RAF1-related Noonan syndrome.

Domain-specific phenotypic profiles in RAF1-related Noonan syndrome.

Journal: European journal of human genetics : EJHG

Published: September 23, 2025

Subtype distribution, clinical presentation, and molecular spectrum of neurofibromatosis type 1-associated breast cancer.

Subtype distribution, clinical presentation, and molecular spectrum of neurofibromatosis type 1-associated breast cancer.

Journal: Breast (Edinburgh, Scotland)

Published: September 15, 2025

Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules.

Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules.

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

Published: April 03, 2024

Defining the variant-phenotype correlation in patients affected by Noonan syndrome with the RAF1:c.770C>T p.(Ser257Leu) variant.

Defining the variant-phenotype correlation in patients affected by Noonan syndrome with the RAF1:c.770C>T p.(Ser257Leu) variant.

Journal: European journal of human genetics : EJHG

Published: February 16, 2024

Clinical variability of neurofibromatosis 1: A modifying role of cooccurring PTPN11 variants and atypical brain MRI findings.

Clinical variability of neurofibromatosis 1: A modifying role of cooccurring PTPN11 variants and atypical brain MRI findings.

Journal: Clinical genetics

Published: April 26, 2021

When to test fetuses for RASopathies? Proposition from a systematic analysis of 352 multicenter cases and a postnatal cohort.

When to test fetuses for RASopathies? Proposition from a systematic analysis of 352 multicenter cases and a postnatal cohort.

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

Published: August 07, 2020

Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications.

Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications.

Journal: European journal of human genetics : EJHG

Published: May 15, 2020

Early-onset malignant phyllodes breast tumor in a patient with germline pathogenic variants in NF1 and BRCA1 genes.

Early-onset malignant phyllodes breast tumor in a patient with germline pathogenic variants in NF1 and BRCA1 genes.

Journal: Familial cancer

Published: April 22, 2020

The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered.

The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered.

Journal: European journal of human genetics : EJHG

Published: March 18, 2020

Prevalence, Type, and Molecular Spectrum of NF1 Mutations in Patients with Neurofibromatosis Type 1 and Congenital Heart Disease.

Prevalence, Type, and Molecular Spectrum of NF1 Mutations in Patients with Neurofibromatosis Type 1 and Congenital Heart Disease.

Journal: Genes

Published: July 27, 2019

Isoform-specific NF1 mRNA levels correlate with disease severity in Neurofibromatosis type 1.

Isoform-specific NF1 mRNA levels correlate with disease severity in Neurofibromatosis type 1.

Journal: Orphanet journal of rare diseases

Published: June 08, 2019

Transplantation of clinical-grade human neural stem cells reduces neuroinflammation, prolongs survival and delays disease progression in the SOD1 rats.

Transplantation of clinical-grade human neural stem cells reduces neuroinflammation, prolongs survival and delays disease progression in the SOD1 rats.

Journal: Cell death & disease

Published: November 21, 2018

Showing 1-12 of 15

Last Updated: 09/26/2026