Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Veronica Venturi"'
Autor:
Lídia Romero‐Cortadellas, Veronica Venturi, Juan Carlos Martín‐Sánchez, Ketil Toska, Dianne Prince, Barbara Butzeck, Graça Porto, Nils Thorm Milman, HI/EFAPH Survey Committee, Mayka Sánchez
Publikováno v:
Health Expectations, Vol 26, Iss 6, Pp 2293-2301 (2023)
Abstract Background Chronic diseases are associated with a range of functional and psychosocial consequences that can adversely affect patients' quality of life (QoL). Haemochromatosis (HC) is a genetically heterogeneous disorder characterized by chr
Externí odkaz:
https://doaj.org/article/98d0735b2e6d44c6b5c354bb75731214
Mutations in the RACGAP1 gene cause autosomal recessive congenital dyserythropoietic anemia type III
Autor:
Gonzalo Hernández, Lídia Romero-Cortadellas, Xènia Ferrer-Cortès, Veronica Venturi, Mercedes Dessy-Rodriguez, Mireia Olivella, Ammar Husami, Concepción Pérez de Soto, Rosario M. Morales-Camacho, Ana Villegas, Fernando-Ataulfo González-Fernández, Marta Morado, Theodosia A. Kalfa, Oscar Quintana-Bustamante, Santiago Pérez-Montero, Cristian Tornador, Jose-Carlos Segovia, Mayka Sánchez
Publikováno v:
Haematologica, Vol 108, Iss 2 (2022)
Externí odkaz:
https://doaj.org/article/7989be4849fa4036b9d6ff2711b088ea
Autor:
Melina Mara Musri, Veronica Venturi, Xènia Ferrer-Cortès, Lídia Romero-Cortadellas, Gonzalo Hernández, Pilar Leoz, María Pilar Ricard Andrés, Marta Morado, María del Carmen Fernández Valle, David Beneitez Pastor, Ana Ortuño Cabrero, Maite Moreno Gamiz, Leonor Senent Peris, Amanda Isabel Perez-Valencia, Santiago Pérez-Montero, Cristian Tornador, Mayka Sánchez
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 12, p 9935 (2023)
Congenital dyserythropoietic anemia type II (CDA II) is an inherited autosomal recessive blood disorder which belongs to the wide group of ineffective erythropoiesis conditions. It is characterized by mild to severe normocytic anemia, jaundice, and s
Externí odkaz:
https://doaj.org/article/f544ba52d5e34f1fadc2230634bf24b6
Autor:
Cristian Tornador, Edgar Sánchez-Prados, Beatriz Cadenas, Roberta Russo, Veronica Venturi, Immacolata Andolfo, Ines Hernández-Rodriguez, Achille Iolascon, Mayka Sánchez
Publikováno v:
Frontiers in Physiology, Vol 10 (2019)
Congenital Dyserythropoietic Anemia (CDA) is a heterogeneous group of hematological disorders characterized by chronic hyporegenerative anemia and distinct morphological abnormalities of erythroid precursors in the bone marrow. In many cases, a final
Externí odkaz:
https://doaj.org/article/9d77f5f3ea1f4f4897eef0ef50b1eb39
Autor:
Sánchez, Melina Mara Musri, Veronica Venturi, Xènia Ferrer-Cortès, Lídia Romero-Cortadellas, Gonzalo Hernández, Pilar Leoz, María Pilar Ricard Andrés, Marta Morado, María del Carmen Fernández Valle, David Beneitez Pastor, Ana Ortuño Cabrero, Maite Moreno Gamiz, Leonor Senent Peris, Amanda Isabel Perez-Valencia, Santiago Pérez-Montero, Cristian Tornador, Mayka
Publikováno v:
International Journal of Molecular Sciences; Volume 24; Issue 12; Pages: 9935
Congenital dyserythropoietic anemia type II (CDA II) is an inherited autosomal recessive blood disorder which belongs to the wide group of ineffective erythropoiesis conditions. It is characterized by mild to severe normocytic anemia, jaundice, and s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=multidiscipl::3a6caa2b2829e323398525f38284c906
Autor:
Anna Guisado-Corcoll, Maria Solaguren-Beascoa, Geòrgia Escaramís, Jordi Creus-Muncunill, Cristina Navarrete, Esther Pérez-Navarro, Veronica Venturi, Eulàlia Martí, Daniela Diaz-Lucena, Franc Llorens, Marta García de Herreros, Mercè Masana, Ana Gámez-Valero, Lorena Pantano
Publikováno v:
Acta Neuropathologica. 141:565-584
Progressive motor alterations and selective death of striatal medium spiny neurons (MSNs) are key pathological hallmarks of Huntington's disease (HD), a neurodegenerative condition caused by a CAG trinucleotide repeat expansion in the coding region o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::80f37bb7a82db92a3da88436482eaf39
https://doi.org/10.1007/s00401-021-02272-9
https://doi.org/10.1007/s00401-021-02272-9
Autor:
Gonzalo, Hernández, Lídia, Romero-Cortadellas, Xènia, Ferrer-Cortès, Veronica, Venturi, Mercedes, Dessy-Rodriguez, Mireia, Olivella, Ammar, Husami, Concepción Pérez, De Soto, Rosario M, Morales-Camacho, Ana, Villegas, Fernando-Ataulfo, González-Fernández, Marta, Morado, Theodosia A, Kalfa, Oscar, Quintana-Bustamante, Santiago, Pérez-Montero, Cristian, Tornador, Jose-Carlos, Segovia, Mayka, Sánchez
Publikováno v:
Haematologica.
Not available.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::f793474af40862d70f60b9e005a2ed88
https://pubmed.ncbi.nlm.nih.gov/36200420
https://pubmed.ncbi.nlm.nih.gov/36200420
Autor:
Gonzalo Hernández, Xenia Ferrer-Cortès, Veronica Venturi, Melina Musri, Martin Floor Pilquil, Pau Marc Muñoz Torres, Ines Hernandez Rodríguez, Maria Àngels Ruiz Mínguez, Nicholas J. Kelleher, Sara Pelucchi, Alberto Piperno, Esther Plensa Alberca, Georgina Gener Ricós, Eloi Cañamero Giró, Santiago Pérez-Montero, Cristian Tornador, Jordi Villà-Freixa, Mayka Sánchez
Publikováno v:
Genes, Vol 12, Iss 1980, p 1980 (2021)
Genes; Volume 12; Issue 12; Pages: 1980
Genes
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
Genes; Volume 12; Issue 12; Pages: 1980
Genes
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
Hereditary hemochromatosis (HH) is an iron metabolism disease clinically characterized by excessive iron deposition in parenchymal organs such as liver, heart, pancreas, and joints. It is caused by mutations in at least five different genes. HFE hemo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ff96f063e5f6dca4584f4e34d0664a6
https://www.mdpi.com/2073-4425/12/12/1980
https://www.mdpi.com/2073-4425/12/12/1980
Autor:
Paul H. Teesdale-Spittle, Veronica Venturi, David R. Maass, Paul H. Atkinson, Richard Little, Peter W. Bircham, Juliana Rodigheri Brito
Publikováno v:
Biochemical and Biophysical Research Communications. 496:1082-1087
The translation initiation machinery is emerging as an important target for therapeutic intervention, with potential in the treatment of cancer, viral infections, and muscle wasting. Amongst the targets for pharmacological control of translation init
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::16dbaf7458ae1c2a29ea1d899c4ffe8e
https://doi.org/10.1016/j.bbrc.2018.01.137
https://doi.org/10.1016/j.bbrc.2018.01.137
Autor:
Veronica Venturi, Paola Bianchi, Juan C. Ramirez, Sara Fañanas-Baquero, José C. Segovia, Mercedes Dessy-Rodriguez, Cristian Tornador, Mayka Sanchez, Oscar Quintana Bustamante, Salvador Payan, Gonzalo Hernández
Publikováno v:
Blood. 138:1994-1994
Congenital dyserythropoietic anemias (CDAs) are a group of inherited anemias that affect the development of the erythroid lineage. CDA type II is the most common one: it accounts for around 60% of all cases, and more than 600 cases have been reported
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a332e4572c31340e24034d08a9874d96
https://doi.org/10.1182/blood-2021-152332
https://doi.org/10.1182/blood-2021-152332