E-LIB Suche - Ergebnisse für: Bogliolo, Massimo

1

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder:

Martin, Carol-Anne ; Sarlós, Kata ; Logan, Clare V....
The American Journal of Human Genetics. 111 (2024) 5 - p. 996 , 2024

Link: https://doi.org/10.1016/..

2

A self-repair history: compensatory effect of a de novo var..:

Persico, Ilaria ; Fontana, Giorgia ; Faleschini, Michela...
Frontiers in Genetics. 14 (2023) - p. , 2023

Link: https://doi.org/10.3389/..

3

CDK5RAP3, a New BRCA2 Partner That Regulates DNA Repair, Is..:

Minguillón, Jordi ; Ramírez, María José ; Rovirosa, Llorenç...
Cancers. 14 (2022) 2 - p. 353 , 2022

Link: https://doi.org/10.3390/..

4

Clinical consequences of BRCA2 hypomorphism:

Castells-Roca, Laia ; Gutiérrez-Enríquez, Sara ; Bonache, Sandra...
npj Breast Cancer. 7 (2021) 1 - p. , 2021

Link: https://doi.org/10.1038/..

5

Natural gene therapy by reverse mosaicism leads to improved..:

Ramírez, María José ; Pujol, Roser ; Trujillo‐Quintero, Juan Pablo...
American Journal of Hematology. 96 (2021) 8 - p. 989-999 , 2021

Link: https://doi.org/10.1002/..

6

FANCA Gene Mutations in North African Fanconi Anemia Patien..:

Ben Haj Ali, Abir ; Messaoud, Olfa ; Elouej, Sahar...
Frontiers in Genetics. 12 (2021) - p. , 2021

Link: https://doi.org/10.3389/..

7

Next-generation Sequencing in Bone Marrow Failure Syndromes..:

Gálvez, Eva ; Vallespín, Elena ; Arias-Salgado, Elena G....
HemaSphere. 5 (2021) 4 - p. e539 , 2021

Link: https://doi.org/10.1097/..

8

Improved collection of hematopoietic stem cells and progeni..:

Sevilla, Julián ; Navarro, Susana ; Rio, Paula...
Molecular Therapy - Methods & Clinical Development. 22 (2021) - p. 66-75 , 2021

Link: https://doi.org/10.1016/..

9

From exome analysis in idiopathic azoospermia to the identi..:

Krausz, Csilla ; Riera-Escamilla, Antoni ; Chianese, Chiara...
Genetics in Medicine. 21 (2019) 1 - p. 189-194 , 2019

Link: https://doi.org/10.1038/..

10

The FANCM:p.Arg658* truncating variant is associated with r..:

Figlioli, Gisella ; Bogliolo, Massimo ; Catucci, Irene...
npj Breast Cancer. 5 (2019) 1 - p. , 2019

Link: https://doi.org/10.1038/..

11

Functional Comparison of XPF Missense Mutations Associated ..:

Marín, Maria ; Ramírez, María José ; Aza Carmona, Miriam...
Genes. 10 (2019) 1 - p. 60 , 2019

Link: https://doi.org/10.3390/..

12

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder:

Martin, Carol-Anne ; Sarlós, Kata ; Logan, Clare V....
The American Journal of Human Genetics. 103 (2018) 2 - p. 221-231 , 2018

Link: https://doi.org/10.1016/..

13

Individuals with FANCM biallelic mutations do not develop F..:

Catucci, Irene ; Osorio, Ana ; Arver, Brita...
Genetics in Medicine. 20 (2018) 4 - p. 452-457 , 2018

Link: https://doi.org/10.1038/..

14

Biallelic truncating FANCM mutations cause early-onset canc..:

Bogliolo, Massimo ; Bluteau, Dominique ; Lespinasse, James...
Genetics in Medicine. 20 (2018) 4 - p. 458-463 , 2018

Link: https://doi.org/10.1038/..

15

Decapping protein EDC4 regulates DNA repair and phenocopies..:

Hernández, Gonzalo ; Ramírez, María José ; Minguillón, Jordi...
Nature Communications. 9 (2018) 1 - p. , 2018

Link: https://doi.org/10.1038/..