Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Paola Pistidda"'
Autor:
Silvia Tore, Stefania Casula, Giuseppina Casu, Maria Pina Concas, Paola Pistidda, Ivana Persico, Alessandro Sassu, Giovanni Battista Maestrale, Caterina Mele, Maria Rosa Caruso, Bibiana Bonerba, Paolo Usai, Ivo Deiana, Timothy Thornton, Mario Pirastu, Paola Forabosco
Publikováno v:
PLoS Genetics, Vol 7, Iss 1, p e1001281 (2011)
In contrast to large GWA studies based on thousands of individuals and large meta-analyses combining GWAS results, we analyzed a small case/control sample for uric acid nephrolithiasis. Our cohort of closely related individuals is derived from a smal
Externí odkaz:
https://doaj.org/article/a71184c3484143e1a5dd9399a5170e56
Autor:
Luciana Guiso, Elena Rimini, Maurizio Roberto Longinotti, Paola Pistidda, L. Oggiano, Laura Frogheri
Publikováno v:
Clinical & Laboratory Haematology. 14:289-292
In this paper we report an unusual Sardinian family, in which the heterozygosity for beta zero 39-thalassaemia and for triple alpha-globin gene complex have been found in two members: the former showing a high HbA2 mild thalassaemia intermedia syndro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a05a99aeeb71fb2f6a2bde23a752916a
https://doi.org/10.1111/j.1365-2257.1992.tb00104.x
https://doi.org/10.1111/j.1365-2257.1992.tb00104.x
Autor:
Laura Manca, Luciana Guiso, Maurizio Roberto Longinotti, Paola Pistidda, L. Cherchi, Simonetta Pardini, Marcella Corda, Monica Pirastru, Bruno Lucio Masala
Publikováno v:
Hemoglobin. 25:341-345
The occurrence of several abnormal hemoglobins (Hbs) in the population of the island of Sardinia has been documented [[1]]. Because of continuing screening programs for hemoglobinopathies among new...
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ef251c8d967aaef549b6eb9d7f54161
https://doi.org/10.1081/hem-100105229
https://doi.org/10.1081/hem-100105229
Autor:
Maurizio Roberto Longinotti, Paola Pistidda, Luciana Guiso, Fausto Dore, Laura Frogheri, Simonetta Pardini, L Angioni
Publikováno v:
Clinical & Laboratory Haematology. 18:241-244
To determine the incidence of delta+ 27 thalassaemia in Northern Sardinia we examined blood samples from 750 Sardinian schoolboys by PCR-based molecular analysis. The incidence of delta+ 27 mutation was 1.2% in this study, i.e. twice as high as previ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9602443651ba262dbd7d6e64cecdfcdc
https://doi.org/10.1111/j.1365-2257.1996.tb01286.x
https://doi.org/10.1111/j.1365-2257.1996.tb01286.x
Autor:
John G. Gilman, Fausto Dore, Maurizio Roberto Longinotti, Laura Manca, Luciana Guiso, Paola Pistidda, L. Oggiano, Bruno Lucio Masala, Laura Frogheri
Publikováno v:
American Journal of Hematology. 49:267-270
The -117(G-->A)A gamma hereditary persistence of fetal hemoglobin (Greek HPFH) and beta zero 39-thal mutations are rather frequent in Sardinia so that their interaction is to be expected. Characterization of eight compound heterozygotes for these def
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fede8b07cb094544660142c72dc560fb
https://doi.org/10.1002/ajh.2830490402
https://doi.org/10.1002/ajh.2830490402
Autor:
Maurizio Roberto Longinotti, Paola Pistidda, L. Oggiano, Laura Frogheri, Georgios Loudianos, Mario Pirastu, Luciana Guiso, Antonio Cao, Elena Rimini
Publikováno v:
American Journal of Hematology. 45:81-84
The term delta beta-thalassemia with normal HbF has been recently proposed to define heterogenous delta and beta globin gene molecular defects involving the same chromosome in cis. Here, we describe a Sardinian family in which three members showing m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bf7d1c3ea9c42a19b45727ffd2102531
https://doi.org/10.1002/ajh.2830450113
https://doi.org/10.1002/ajh.2830450113
Autor:
Paolo Usai, Mario Pirastu, Ivo Deiana, Alessandro Sassu, Silvia Tore, Paola Forabosco, Giovanni Battista Maestrale, Maria Rosa Caruso, Caterina Mele, Ivana Persico, Bibiana Bonerba, Timothy A. Thornton, Maria Pina Concas, Giuseppina Casu, Paola Pistidda, Stefania Casula
Publikováno v:
PLoS Genetics
PLoS Genetics, Vol 7, Iss 1, p e1001281 (2011)
PLoS Genetics, Vol 7, Iss 1, p e1001281 (2011)
In contrast to large GWA studies based on thousands of individuals and large meta-analyses combining GWAS results, we analyzed a small case/control sample for uric acid nephrolithiasis. Our cohort of closely related individuals is derived from a smal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ceb62e23080a3b690ed793e959b7b746
http://eprints.uniss.it/6244/
http://eprints.uniss.it/6244/
Publikováno v:
The hematology journal : the official journal of the European Haematology Association. 3(4)
Hb J Sardegna is a well known innocent Hb variant which is widespread in Sardinia. As yet, homozygosity for Hb J Sardegna has not been documented. This report deals with the homozygous state for Hb J which we demonstrate by molecular analysis in two
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cea77d0437ddcb30c17f2636fe139ed5
https://pubmed.ncbi.nlm.nih.gov/12189562
https://pubmed.ncbi.nlm.nih.gov/12189562