Zobrazeno 1 - 10
of 166
pro vyhledávání: '"M Furbetta"'
Autor:
T. Tuveri, Maria Addis, M. Furbetta, Antonio Cao, Renzo Galanello, Maria Antonietta Melis, M. E. Paglietti
Publikováno v:
Clinical Genetics. 33:151-155
This paper describes a complex combination of four thalassemia genes (delta(+), beta(0), nondeletion and deletion alpha-thalassemia) in the spouse of a typical high Hb A2 beta-thalassemia carrier presenting for genetic counselling. This complex gene
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::875d75f375a60d41322b0c0eb439cc43
https://doi.org/10.1111/j.1399-0004.1988.tb03430.x
https://doi.org/10.1111/j.1399-0004.1988.tb03430.x
Publikováno v:
Journal of Cystic Fibrosis. 7
In the Umbria Region the CF newborn screening (NBS) was carried out since the year 2000. The tests were run in the “CRI Laboratory” in Rome using the IRT1/OLA31/IRT2 protocol [1]. For all positive subjects more detailed tests were suggested in or
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9cf882159b66453689bee022e909881b
Autor:
Maria Luisa Serino, G. Ballerini, Francesco Bernardi, Donato Gemmati, M. Furbetta, S. Moratelli, Barbara Lunghi, Giovanna Marchetti
We studied a patient affected by von Willebrand disease type 2A who experienced several mild bleeding episodes and was characterized by markedly reduced haemostatic parameters. In the exon 28 of von Willebrand factor (vWF) gene a T to C transition at
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0acccce4df5edf4d7995f87be31914bb
http://hdl.handle.net/11392/1203475
http://hdl.handle.net/11392/1203475
Autor:
F. Caminiti, M Furbetta, G. Angioni, C. Rosatelli, M T Scalas, Angela Maria Falchi, A Ximenes, A Angius, Antonio Cao, T Tuveri
Publikováno v:
Journal of Medical Genetics. 19:81-87
The results of 200 antenatal diagnoses in pregnancies at risk for homozygous beta-thalassaemia, carried out on fetal blood samples obtained by placental aspiration in the second trimester, are described. Globin chain synthesis in the fetuses was meas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb0f7f83c1e040060af853d70d4a518f
https://doi.org/10.1136/jmg.19.2.81
https://doi.org/10.1136/jmg.19.2.81
Publikováno v:
Hemoglobin. 2:333-349
In this study the clinical and hematological characteristics, the transmission pattern and the relative rates of globin chain synthesis were determined in the members of four Sardinian families with 14 patients affected by hemoglobin H disease. The s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::680e10638318843ee9f1bb6cc2c321d7
https://doi.org/10.3109/03630267809005344
https://doi.org/10.3109/03630267809005344
Autor:
F. Caminiti, M T Scalas, T Tuveri, M Furbetta, Antonio Cao, R. Fais, A Ximenes, C. Rosatelli, G. Angioni And and, A Angius
Publikováno v:
British Journal of Haematology. 44:441-450
Prenatal diagnosis with globin chain synthesis analysis on fetal red blood cells concentrated by NH4Cl-NH4HCO3 differential lysis of maternal cells (Orskov lysis) was carried out in 27 pregnancies at risk for beta thalassaemia and one at risk for sic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7bd91d4f880fe24fd94b5d88f5721a23
https://doi.org/10.1111/j.1365-2141.1980.tb05914.x
https://doi.org/10.1111/j.1365-2141.1980.tb05914.x
Autor:
David J. Weatherall, Antonio Cao, J. S. Wainscoat, T. Sophocleous, M Furbetta, Emmanuel Kanavakis, D. Georgiou, Renzo Galanello, William G. Wood
Publikováno v:
British Journal of Haematology. 52:465-473
The alpha globin genotypes of 55 beta thalassaemia heterozygotes have been determined by restriction endonuclease analysis to identify those with interacting alpha thalassaemia genes. A comparison of the haematological and haemoglobin synthesis findi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d1fb7bcc22c82691ba13e3117aabf4d
https://doi.org/10.1111/j.1365-2141.1982.tb03916.x
https://doi.org/10.1111/j.1365-2141.1982.tb03916.x
Publikováno v:
Journal of Medical Genetics. 10:371-375
A family is reported with eight cases of Down's syndrome and four abortions in a sibship. The cytogenetic studies showed that the mother was a (21q21q) translocation carrier. Two living children were examined and were found to be cases of Down's synd
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d8734a51731205bb3a2803d11ab1b1f0
https://doi.org/10.1136/jmg.10.4.371
https://doi.org/10.1136/jmg.10.4.371
Publikováno v:
Blood. 54:1434-1438
We investigated the molecular basis of hemoglobin-H disease by hybridization and restriction endonuclease mapping of the DNA in the Mediterranean populations. Of the 12 patients studied from Cyprus and Sardinia, 8 had the typical deletion defect with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::abb95e02976c442899a3d71b62a32914
https://doi.org/10.1182/blood.v54.6.1434.bloodjournal5461434
https://doi.org/10.1182/blood.v54.6.1434.bloodjournal5461434