Zobrazeno 1 - 8 of 8 pro vyhledávání: '"S. h, Giacomelli"'
1
F8 mRNA studies in haemophilia A patients with different splice site mutations
Autor: S. Sanna, Elena Santagostino, F. Rodeghiero, Giancarlo Castaman, Maria Elisa Mancuso, S. H. Giacomelli
Publikováno v: Haemophilia. 16:786-790
Summary. Analysis of cDNA is a useful way of investigating splicing mutations and provides more information than using in silico analysis to understand disease pathogenesis better. For understanding the manner in which mutations result in haemophilia
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::6640e37b109b23c23fb164deca607bd3
https://doi.org/10.1111/j.1365-2516.2010.02250.x
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2
Molecular and phenotypic determinants of the response to desmopressin in adult patients with mild hemophilia A
Autor: P. M. Mannucci, F. Rodeghiero, Maria Elisa Mancuso, Elena Santagostino, Alberto Tosetto, Giancarlo Castaman, S. H. Giacomelli
Publikováno v: Journal of Thrombosis and Haemostasis. 7:1824-1831
Summary. Background: The relationship of the biologic response to desmopressin with the F8 mutation and physiological characteristics has been poorly investigated in patients with mild hemophilia A. Objectives: We prospectively assessed the molecular
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e410f713c795c919df6cc7471219b1c
https://doi.org/10.1111/j.1538-7836.2009.03595.x
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6
F8 mRNA studies in haemophilia A patients with different splice site mutations
Autor: G, Castaman, S H, Giacomelli, M E, Mancuso, S, Sanna, E, Santagostino, F, Rodeghiero
Publikováno v: Haemophilia : the official journal of the World Federation of Hemophilia. 16(5)
Analysis of cDNA is a useful way of investigating splicing mutations and provides more information than using in silico analysis to understand disease pathogenesis better. For understanding the manner in which mutations result in haemophilia A (HA) o
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::60c02cc5c256733d936726b3df63cd01
https://pubmed.ncbi.nlm.nih.gov/20398075
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7
Identification of 217 unreported mutations in the F8 gene in a group of 1,410 unselected Italian patients with hemophilia A
Autor: M. Acquila, Giuseppe Castaldo, L. Tagliabue, Isabella Garagiola, Roberta Salviato, F. Riccardi, Donata Belvini, Elvira Grandone, A. M. Lombardi, R. Santacroce, B. Minuti, Maurizio Margaglione, S. H. Giacomelli
To provide a National database, 1,410 unrelated hemophilia A (HA) patients were investigated using screening methods denaturing high-performance liquid chromatography (DHPLC), conformational-sensitive gel electrophoresis (CSGE)] and/or direct sequenc
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::71b938ddfe2b1f64651b2b48e14ff9d1
http://hdl.handle.net/11588/343101
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8
Molecular characterization of five Italian families with inherited severe factor XIII deficiency
Autor: C. Biasioli, Alfredo Dragani, H. P. Kohler, Verena Schroeder, Francesco Rodeghiero, Johannes Oldenburg, S. H. Giacomelli, Giancarlo Castaman, Vytautas Ivaskevicius, D. Madeo
Publikováno v: Haemophilia : the official journal of the World Federation of Hemophilia. 14(1)
Summary. Factor XIII (FXIII) deficiency is a very rare (1:2 000 000) severe autosomal recessive bleeding disorder, mostly due to mutations in the coagulation FXIII A-subunit gene. We have studied the molecular basis of FXIII deficiency in five unrela
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75c3b908e55e128273f53b045dd8c0f6
https://pubmed.ncbi.nlm.nih.gov/18028394
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