Search details
1.
Gene therapy restores the transcriptional program of hematopoietic stem cells in Fanconi anemia.
Haematologica
; 108(10): 2652-2663, 2023 10 01.
Article
in English
| MEDLINE | ID: mdl-37021532
2.
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.
Am J Hum Genet
; 111(5): 996, 2024 May 02.
Article
in English
| MEDLINE | ID: mdl-38701747
3.
Further validation and psychometric properties of the Spanish adaptation of the Genetic Counseling Outcome Scale.
J Genet Couns
; 31(1): 71-81, 2022 02.
Article
in English
| MEDLINE | ID: mdl-34218491
4.
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.
Am J Hum Genet
; 103(2): 221-231, 2018 08 02.
Article
in English
| MEDLINE | ID: mdl-30057030
5.
Natural gene therapy by reverse mosaicism leads to improved hematology in Fanconi anemia patients.
Am J Hematol
; 96(8): 989-999, 2021 08 01.
Article
in English
| MEDLINE | ID: mdl-33984160
6.
Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies.
J Med Genet
; 57(4): 258-268, 2020 04.
Article
in English
| MEDLINE | ID: mdl-31586946
7.
From exome analysis in idiopathic azoospermia to the identification of a high-risk subgroup for occult Fanconi anemia.
Genet Med
; 21(1): 189-194, 2019 01.
Article
in English
| MEDLINE | ID: mdl-29904161
8.
Biallelic truncating FANCM mutations cause early-onset cancer but not Fanconi anemia.
Genet Med
; 20(4): 458-463, 2018 04.
Article
in English
| MEDLINE | ID: mdl-28837157
9.
Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility.
Genet Med
; 20(4): 452-457, 2018 04.
Article
in English
| MEDLINE | ID: mdl-28837162
10.
Mutations in ERCC4, encoding the DNA-repair endonuclease XPF, cause Fanconi anemia.
Am J Hum Genet
; 92(5): 800-6, 2013 May 02.
Article
in English
| MEDLINE | ID: mdl-23623386
11.
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.
Am J Hum Genet
; 103(3): 456, 2018 09 06.
Article
in English
| MEDLINE | ID: mdl-30193137
12.
On the role of FAN1 in Fanconi anemia.
Blood
; 120(1): 86-9, 2012 Jul 05.
Article
in English
| MEDLINE | ID: mdl-22611161
13.
Evaluation of rare variants in the new fanconi anemia gene ERCC4 (FANCQ) as familial breast/ovarian cancer susceptibility alleles.
Hum Mutat
; 34(12): 1615-8, 2013 Dec.
Article
in English
| MEDLINE | ID: mdl-24027083
14.
Origin, functional role, and clinical impact of Fanconi anemia FANCA mutations.
Blood
; 117(14): 3759-69, 2011 Apr 07.
Article
in English
| MEDLINE | ID: mdl-21273304
15.
Cancer risks by sex and variant type in PTEN hamartoma tumor syndrome.
J Natl Cancer Inst
; 115(1): 93-103, 2023 01 10.
Article
in English
| MEDLINE | ID: mdl-36171661
16.
Chromosome fragility in patients with Fanconi anaemia: diagnostic implications and clinical impact.
J Med Genet
; 48(4): 242-50, 2011 Apr.
Article
in English
| MEDLINE | ID: mdl-21217111
17.
Upregulation of NKG2D ligands impairs hematopoietic stem cell function in Fanconi anemia.
J Clin Invest
; 132(15)2022 08 01.
Article
in English
| MEDLINE | ID: mdl-35671096
18.
CDK5RAP3, a New BRCA2 Partner That Regulates DNA Repair, Is Associated with Breast Cancer Survival.
Cancers (Basel)
; 14(2)2022 Jan 12.
Article
in English
| MEDLINE | ID: mdl-35053516
19.
Clinical consequences of BRCA2 hypomorphism.
NPJ Breast Cancer
; 7(1): 117, 2021 Sep 09.
Article
in English
| MEDLINE | ID: mdl-34504103
20.
Next-generation Sequencing in Bone Marrow Failure Syndromes and Isolated Cytopenias: Experience of the Spanish Network on Bone Marrow Failure Syndromes.
Hemasphere
; 5(4): e539, 2021 Apr.
Article
in English
| MEDLINE | ID: mdl-33718801