引用次数
引用: 146
H-指数: 6
I10-指数 : 5
出版物: 24
Modelling Congenital Dyserythropoietic Anemia Type II through Gene Editing in Hematopoietic Stem and Progenitor Cells
José C Segovia , Veronica Venturi , Mercedes Dessy-Rodriguez , Gonzalo Hernandez
Blood 136 27 -27
1
2020
S274: A NOVEL SUBTYPE OF ANEMIA CAUSED BY MUTATIONS IN TFRC GENE
Silvia Colucci , Veronica Venturi , Fritsch Nicole , D Jové Solavera
HemaSphere 6 175 -176
2022
CDK5RAP3, a New BRCA2 Partner That Regulates DNA Repair, Is Associated with Breast Cancer Survival
Jordi Minguillón , María José Ramírez , Llorenç Rovirosa , Pilar Bustamante-Madrid
Cancers 14 ( 2) 353 -353
2022
Correction of Congenital Dyserythropoietic Anemia Type II Using Lentiviral Gene Therapy
Mercedes Dessy-Rodriguez , Oscar Quintana-Bustamante , Jose C Segovia , Sara Fananas-Baquero
MOLECULAR THERAPY 30 ( 4) 327 -327
2022
Gene Editing for Congenital Dyserythropoietic Anemia Type II Model in Human Hematopoietic Stem and Progenitor Cells
Mercedes Dessy-Rodriguez , Sara Fananas-Baquero , Veronica Venturi , Salvador Payan
MOLECULAR THERAPY 29 ( 4) 341 -341
2021
SYSTEMIC FRATAXIN DEFICIENCY CAUSES TISSUE-DEPENDENT IRON HOMEOSTASIS ALTERATIONS: IMPLICATIONS FOR FRIEDREICH ATAXIA
Maria Pazos-Gil , Marta Medina-Carbonero , Arabela Sanz-Alcazar , Marta Portillo-Carrasquer
bioRxiv 2024.07. 05.602088 -2024.07. 05.602088
2024
Hereditary Hyperferritinemia Cataract Syndrome: Ferritin L Gene and Physiopathology behind the Disease-Report of New Cases.
Cristian Tornador , José Luis Fuster , Mayka Sanchez , Ines Hernandez-Rodriguez
International Journal of Molecular Sciences 22 ( 11) 5451
2021
Decapping protein EDC4 regulates DNA repair and phenocopies BRCA1
Gonzalo Hernández , María José Ramírez , Jordi Minguillón , Paco Quiles
Nature Communications 9 ( 1) 967 -967
22
2018
Exploring the link between MORF4L1 and risk of breast cancer
Griselda Martrat , Christopher A Maxwell , Emiko Tominaga , Montserrat Porta-De-La-Riva
Breast Cancer Research 13 ( 2) 1 -14
2011
Defective Slc7a7 transport reduces erythropoietin compromising erythropoiesis and iron homeostasis
Judith Giroud-Gerbetant , Fernando Sotillo , Gonzalo Hernández , Cian J Lynch
bioRxiv 2021.08. 15.456393 -2021.08. 15.456393
2021
New mutations in HFE2 and TFR2 genes causing non HFE-related hereditary hemochromatosis
Gonzalo Hernández , Xenia Ferrer-Cortès , Veronica Venturi , Melina Musri
Genes 12 ( 12) 1980 -1980
10
2021
New cases and mutations in SEC23B gene causing congenital dyserythropoietic anemia type II
Melina Mara Musri , Veronica Venturi , Xènia Ferrer-Cortès , Lídia Romero-Cortadellas
International Journal of Molecular Sciences 24 ( 12) 9935 -9935
4
2023
Mutations in the RACGAP1 gene cause autosomal recessive congenital dyserythropoietic anemia type III
Gonzalo Hernández , Lídia Romero-Cortadellas , Xènia Ferrer-Cortès , Veronica Venturi
Haematologica 108 ( 2) 581 -581
5
2023
Lentiviral Gene Therapy for the Correction of Congenital Dyserythropoietic Anemia Type II
Mercedes Dessy-Rodriguez , Sara Fañanas-Baquero , Veronica Venturi , Salvador Payan
Blood 138 1994 -1994
1
2021
P1431: MOLECULAR CHARACTERIZATION AND LENTIVIRAL CORRECTION OF IN VITRO ERYTHROPOIEIS IN PATIENTS WITH A NOVEL RECESSIVE CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE III (CDA TYPE IIIB).
Gonzalo Hernández , Lídia Romero-Cortadellas , Xènia Ferrer-Cortès , Veronica Venturi
HemaSphere 6 1314 -1315
2022
New cases of hypochromic microcytic anemia due to mutations in the SLC11A2 gene and functional characterization of the G75R mutation
Lídia Romero-Cortadellas , Gonzalo Hernández , Xènia Ferrer-Cortès , Laura Zalba-Jadraque
International journal of molecular sciences 23 ( 8) 4406 -4406
5
2022
Autosomal recessive congenital dyserythropoietic anemia type III is caused by mutations in the centralspindlin RACGAP1 component
Lídia Romero-Cortadellas , Gonzalo Hernández , Xènia Ferrer-Cortès , Veronica Venturi
Blood 138 ( Supplement 1) 847 -847
5
2021
P1475: MUTATIONS IN THE GAP DOMAIN OF RACGAP1 CAUSE DEVELOPMENTAL AND ERYTHROID DEFECTS IN ZEBRAFISH
Lídia Romero-Cortadellas , Aitor Bañón , Gonzalo Hernández , Santiago Pérez-Montero
HemaSphere 7 ( S3) e01629bb -e01629bb
2023
S289: PPP1R1B Binds Iron Regulatory Proteins and Modulates Iron Cellular Content
Laura Calvo López , Gonzalo Hernández , Ferran Celma Nos , Mayka Sanchez
HemaSphere 7 ( S3) e532625e -e532625e
2023
Modelling Congenital Dyserythropoietic Anemia Type II in Human Hematopoietic Stem and Progenitor Cells using Gene Editing
M Dessy-Rodriguez , S Fananas-Baquero , V Venturi , S Payan
HUMAN GENE THERAPY 32 ( 19-20) A62 -A62
2021