Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Sandra Pennesi"'
Autor:
Felisa N. Basack, Gustavo Parisi, Karen G. Scheps, Marcia Anahí Hasenahuer, Viviana Varela, Beatriz Erramouspe, Luis Aversa, Ernesto Samuel Veber, Sandra Pennesi, María Silvina Fornasari, Graciela Elena
Publikováno v:
European Journal of Haematology. 94:498-503
We describe here the molecular and hematological characteristics of novel frameshift mutations in exon 2 of the HBB gene (in heterozygous state) found in two Argentinean pediatric patients with dominant b-thalassemia-like features. In Hb Wilde, HBB:c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5b64a1317f0cbcea440321b47f0e8ec3
https://doi.org/10.1111/ejh.12456
https://doi.org/10.1111/ejh.12456
Autor:
Alicia R. Bitsman, Viviana Varela, Karen G. Scheps, Sandra Pennesi, Daniel Freigeiro, Silvia M. De Paula, F. Nora Basack
Publikováno v:
Hemoglobin. 37(5)
We describe a novel frameshift mutation on the HBA1 gene (c.187delG), causative of α-thalassemia (α-thal) in a Black Cuban family with multiple sequence variants in the HBA genes and the Hb S [β6(A3)Glu→Val, GAG>GTG; HBB: c.20A>T] mutation. The
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f7ec16bb6039cb7e90dc0a093f3ce1c
https://pubmed.ncbi.nlm.nih.gov/23806041
https://pubmed.ncbi.nlm.nih.gov/23806041
Autor:
Cecilia Riccheri, Julieta Bietti, Gustavo Milone, Carolina Bárbara Belli, Cristian Alberto Ferri, Irene Larripa, Michele Bianchini, Alejandra Cedola, Luis Aversa, Sandra Pennesi
Publikováno v:
Blood. 124:5344-5344
Philadelphia (Ph) chromosome in acute lymphoblastic leukemia (ALL) is found nearly in 20-30% adults and 5% children. Ph chromosome results from the reciprocal translocation t(9;22)(q34;q11) joining the tyrosine kinase c-ABL1 proto-oncogene on chromos
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8cae70405e4e9635e3ccfe1fb45d024e
https://doi.org/10.1182/blood.v124.21.5344.5344
https://doi.org/10.1182/blood.v124.21.5344.5344
Autor:
Graciela Schwalb, Alejandra Maro, Sandra Pennesi, Luis Aversa, Ana Awdejczuk, Daniel Freigeiro, Guillermo Drelichman, Nora Basack, Lorena Moran
Publikováno v:
Blood. 106:3751-3751
Inherited bone marrow failure syndromes (IBMFS) present chronic bone marrow failures, a familial incidence and high risk of malignancy. Objective: we describe our experience with patients with IBMFS. Since 02/73 to 02/05, 60 patients (pts) with IBMSF
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9165f301a1e69c7cd1716832e0a3f874
https://doi.org/10.1182/blood.v106.11.3751.3751
https://doi.org/10.1182/blood.v106.11.3751.3751