Alessandro De Luca

San Giovanni Rotondo, Italy

Last Updated: 09/26/2026

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Found 104 publications

The 9th International RASopathies Symposium.

The 9th International RASopathies Symposium.

Journal: American journal of medical genetics. Part A

Published: February 25, 2026

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

Intrafamilial Phenotypic Variability in SCA17 with Reduced-Penetrance TBP Expansions.

Intrafamilial Phenotypic Variability in SCA17 with Reduced-Penetrance TBP Expansions.

Journal: Cerebellum (London, England)

Published: September 05, 2025

Generation and characterization of a patient-derived iPSC line, CSSi022-A (15666), with a pathogenic MFN2 mutation causing Charcot-Marie-Tooth disease type 2A.

Generation and characterization of a patient-derived iPSC line, CSSi022-A (15666), with a pathogenic MFN2 mutation causing Charcot-Marie-Tooth disease type 2A.

Journal: Stem cell research

Published: July 25, 2025

Biallelic BAIAP3 Variants Are Associated with Isolated Retinitis Pigmentosa.

Biallelic BAIAP3 Variants Are Associated with Isolated Retinitis Pigmentosa.

Journal: International journal of molecular sciences

Published: July 24, 2025

Interpreting the functional impact of genetic variants: The need for context qualifiers.

Interpreting the functional impact of genetic variants: The need for context qualifiers.

Journal: American journal of human genetics

Published: July 16, 2025

Generation and characterization of the CSSi021-A (15665) human induced pluripotent stem cell line from a Smith-Magenis syndrome patient with a heterozygous RAI1 mutation.

Generation and characterization of the CSSi021-A (15665) human induced pluripotent stem cell line from a Smith-Magenis syndrome patient with a heterozygous RAI1 mutation.

Journal: Stem cell research

Published: March 14, 2025

Fetal Hydrops: Genetic Dissection of an Unspecific Sonographic Finding-A Comprehensive Review.

Fetal Hydrops: Genetic Dissection of an Unspecific Sonographic Finding-A Comprehensive Review.

Journal: Diagnostics (Basel, Switzerland)

Published: December 30, 2024

Relevance of Next-Generation Sequencing in the Diagnosis of Thalassemia and Hemoglobinopathies: The Experience of Four Italian Diagnostic Hubs.

Relevance of Next-Generation Sequencing in the Diagnosis of Thalassemia and Hemoglobinopathies: The Experience of Four Italian Diagnostic Hubs.

Journal: Genes

Published: November 29, 2024

Generation of the CSSi020-A (14437) iPSC line from a patient carrying a copy number variation (CNV) in the 17p11.2 chromosome region.

Generation of the CSSi020-A (14437) iPSC line from a patient carrying a copy number variation (CNV) in the 17p11.2 chromosome region.

Journal: Stem cell research

Published: July 04, 2024

Genotype-Phenotype Correlation in a Group of Italian Patients With Primary Ciliary Dyskinesia.

Genotype-Phenotype Correlation in a Group of Italian Patients With Primary Ciliary Dyskinesia.

Journal: Pediatric pulmonology

Published: May 02, 2024

Showing 1-12 of 104

Last Updated: 09/26/2026