Zobrazeno 1 - 10
of 580
pro vyhledávání: '"R. Galanello"'
Publikováno v:
Thalassemia Reports, Vol 1, Iss 1, Pp e6-e6 (2011)
The clinical manifestations of β-thalassemia are extremely heterogeneous, ranging from severe transfusion-dependent anemia, to the mild non transfusion dependent thalassemia intermedia and to the asymptomatic carrier state. The remarkable phenotypic
Externí odkaz:
https://doaj.org/article/d8a5665ed66640509099b5661f9e591d
Publikováno v:
EJIFCC
SUMMARY The most important aspects of carrier detection procedures, genetic counselling, population screening and fetal diagnosis of the thalassaemias and sickle cell anaemia are reviewed. Carrier detection can be made retrospectively, i.e. following
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::173814386f886ef06a406ea40510f429
https://pubmed.ncbi.nlm.nih.gov/30707531
https://pubmed.ncbi.nlm.nih.gov/30707531
Background: The detection and diagnosis of beta-thalassaemia for populations with molecular heterogeneity, or diverse ethnic groups, has increased the need for the development of an array high-throughput diagnostic tool that can deliver large scale g
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2127::b25ea082624f9f0e3c53b9cfe5af21fb
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3147621
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3147621
Publikováno v:
Ciba Foundation Symposium 197-Variation in the Human Genome
Homozygous beta-thalassaemia in a number of at-risk populations (Greek and Turkish Cypriots, Greeks, Continental Italians and Sardinians) has been prevented at the population level by programmes based on carrier screening, genetic counselling and pre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1edf718c6c1e8f6901ac7df0f01aef2c
https://doi.org/10.1002/9780470514887.ch8
https://doi.org/10.1002/9780470514887.ch8
Publikováno v:
La Pediatria medica e chirurgica : Medical and surgical pediatrics. 27(5)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::d649f256e08302b93b0d57da56ee7e02
https://pubmed.ncbi.nlm.nih.gov/16913633
https://pubmed.ncbi.nlm.nih.gov/16913633
Publikováno v:
Mutagenesis. 18(5)
Measurements of chromosomal aberrations were made in 10 thalassaemia major patients treated long-term with deferiprone (at least 5 years) and compared with an equal number of patients matched for age, sex and iron overload, treated long-term with def
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a95d57d3e9eaf1685beff18052735bb2
https://pubmed.ncbi.nlm.nih.gov/12960415
https://pubmed.ncbi.nlm.nih.gov/12960415
Publikováno v:
British journal of haematology. 115(4)
Cholelithiasis has been reported with a variable incidence in homozygous beta-thalassaemia, the reasons for which have only partially been defined. Disease-associated factors or specific modifier genes may be implicated. We assessed the prevalence of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::cd129385c42ee7fb9ca27694b778b286
https://pubmed.ncbi.nlm.nih.gov/11843828
https://pubmed.ncbi.nlm.nih.gov/11843828
Publikováno v:
Pathologica. 92(4)
Thalassemia Intermedia (TI) is a clinical definition in use for a spectrum of clinical conditions ranging in severity from the asymptomatic carrier status to the transfusion-dependent status. The histological lesions of the liver in patients affected
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::499751d9cbc1c18d1e99fa5e88e24441
https://pubmed.ncbi.nlm.nih.gov/11029884
https://pubmed.ncbi.nlm.nih.gov/11029884
Publikováno v:
Human mutation. 12(1)
In this paper we report a male infant heterozygous for thalassemia with a mild glucose 6 phosphate dehydrogenase deficiency. The molecular basis of this new Class III G6PD variant is a G--T mutation at nucleotide 34 in the exon 2, which predicts a Va
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::3e808386ed5512447196c140595db734
https://pubmed.ncbi.nlm.nih.gov/10627140
https://pubmed.ncbi.nlm.nih.gov/10627140
Publikováno v:
European Journal of Pediatrics. 150:413-415
This paper describes the percentile curves for red blood cell (RBC) count, Hb, mean corpuscular volume (MCV) and mean corpuscular haemoglobin (MCH) values of β°-thalassaemia heterozygotes during infancy, childhood and adolescence. Hb values were ab
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8b5e0fa90303400a11deabc74b4f03cf
https://doi.org/10.1007/bf02093721
https://doi.org/10.1007/bf02093721