Massimo Bogliolo

Barcelona, CT, Spain

Last Updated: 09/26/2026

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Found 28 publications

Ending diagnostic odyssey by reanalysis of whole exome sequencing data: reclassification of suspected Fanconi anemia cases to dyskeratosis congenita and Diamond-Blackfan anemia.

Ending diagnostic odyssey by reanalysis of whole exome sequencing data: reclassification of suspected Fanconi anemia cases to dyskeratosis congenita and Diamond-Blackfan anemia.

Journal: Orphanet journal of rare diseases

Published: June 06, 2025

Prognostic significance of mutation type and chromosome fragility in Fanconi anemia.

Prognostic significance of mutation type and chromosome fragility in Fanconi anemia.

Journal: American journal of hematology

Published: July 24, 2024

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.

Journal: American journal of human genetics

Published: May 03, 2024

Haematopoietic gene therapy of non-conditioned patients with Fanconi anaemia-A: results from open-label phase 1/2 (FANCOLEN-1) and long-term clinical trials.

Haematopoietic gene therapy of non-conditioned patients with Fanconi anaemia-A: results from open-label phase 1/2 (FANCOLEN-1) and long-term clinical trials.

Journal: Lancet (London, England)

Published: March 12, 2024

A self-repair history: compensatory effect of a de novo variant on the FANCA c.2778+83C>G splicing mutation.

A self-repair history: compensatory effect of a de novo variant on the FANCA c.2778+83C>G splicing mutation.

Journal: Frontiers in genetics

Published: April 20, 2023

CDK5RAP3, a New BRCA2 Partner That Regulates DNA Repair, Is Associated with Breast Cancer Survival.

CDK5RAP3, a New BRCA2 Partner That Regulates DNA Repair, Is Associated with Breast Cancer Survival.

Journal: Cancers

Published: September 27, 2021

Improved collection of hematopoietic stem cells and progenitors from Fanconi anemia patients for gene therapy purposes.

Improved collection of hematopoietic stem cells and progenitors from Fanconi anemia patients for gene therapy purposes.

Journal: Molecular therapy. Methods & clinical development

Published: February 21, 2021

Natural gene therapy by reverse mosaicism leads to improved hematology in Fanconi anemia patients.

Natural gene therapy by reverse mosaicism leads to improved hematology in Fanconi anemia patients.

Journal: American journal of hematology

Published: February 17, 2021

FANCA Gene Mutations in North African Fanconi Anemia Patients.

FANCA Gene Mutations in North African Fanconi Anemia Patients.

Journal: Frontiers in genetics

Published: September 24, 2020

Next-generation Sequencing in Bone Marrow Failure Syndromes and Isolated Cytopenias: Experience of the Spanish Network on Bone Marrow Failure Syndromes.

Next-generation Sequencing in Bone Marrow Failure Syndromes and Isolated Cytopenias: Experience of the Spanish Network on Bone Marrow Failure Syndromes.

Journal: HemaSphere

Published: September 14, 2020

Clinical consequences of BRCA2 hypomorphism.

Clinical consequences of BRCA2 hypomorphism.

Journal: NPJ breast cancer

Published: August 13, 2020

Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies.

Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies.

Journal: Journal of medical genetics

Published: May 02, 2019

Showing 1-12 of 28

Last Updated: 09/26/2026