Zobrazeno 1 - 10 of 158 pro vyhledávání: '"G. Loudianos"'
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Acute Gallbladder Hydrops and Arthritis: unusual initial manifestations of Wilson's Disease (WD): Case Report
Autor: Z S, Gucev, N, Pop-Jordanova, V, Calovska, V, Tasic, N, Slavevska, N, Laban, M C, Noli, M B, Lepori, G, Loudianos
Publikováno v: Prilozi. 32(2)
Wilson disease (WD) is an autosomal recessive disorder, in which copper is deposited in the liver, brain, cornea and kidneys. The clinical presentation is variable, with fully expressed disease manifesting cirrhosis, neurologic damage and Kayser-Flei
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::7f2e4fff50529426add3491af8a358a4
https://pubmed.ncbi.nlm.nih.gov/22286624
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4
Normal Δ-Globin Gene Sequences in Sardinian Nondeletional Δβ-Thalassemia
Autor: Paolo Moi, Mario Pirastu, Renzo Galanello, G Loudianos, Antonio Cao, J Lavinha
Publikováno v: Hemoglobin. 16:503-509
In order to clarify the reasons for the reduced Hb A2 levels in Sardinian delta beta-thalassemia, we characterized, both by cloning and sequence analysis and by direct sequencing of amplified DNA, the delta-globin gene from an individual of Sardinian
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::e7e1c4a1f8b33ad2a3fa076fa28e6658
https://doi.org/10.3109/03630269208993118
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5
Abnormal mRNA splicing resulting from consensus sequence splicing mutations of ATP7B
Autor: G, Loudianos, M, Lovicu, V, Dessi, M, Tzetis, E, Kanavakis, L, Zancan, L, Zelante, C, Galvèz-Galvèz, A, Cao
Publikováno v: Human mutation. 20(4)
More than 200 Wilson disease (WD) disease-causing mutations have been defined to date. Missense mutations are largely prevalent while splice-site mutations are limited in number. Most reside in the splice donor or acceptor sites and only a minority a
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::63cf2f83d41a5be7cbd17e55fe6c3c62
https://pubmed.ncbi.nlm.nih.gov/12325021
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6
Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations
Autor: G, Loudianos, V, Dessi, M, Lovicu, A, Angius, B, Altuntas, R, Giacchino, M, Marazzi, M, Marcellini, M R, Sartorelli, G C, Sturniolo, N, Kocak, A, Yuce, N, Akar, M, Pirastu, A, Cao
Publikováno v: Journal of medical genetics. 36(11)
In this study, we report further results of mutation analysis of the ATP7B gene in Wilson disease (WD) patients of Mediterranean origin. A total of 136 WD chromosomes, 73 of which were of Italian, 43 of Turkish, 18 of Sardinian, and two of Spanish or
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::7cfe0ddc0cda66b421bffec9497f3ac3
https://pubmed.ncbi.nlm.nih.gov/10544227
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8
A novel Mediterranean 'delta beta-thalassemia' determinant containing the delta (+) 27 and beta (0) 39 point mutations in cis
Autor: L, Oggiano, L, Guiso, L, Frogheri, G, Loudianos, P, Pistidda, E, Rimini, M, Pirastu, A, Cao, M, Longinotti
Publikováno v: American journal of hematology. 45(1)
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=pmid________::7ddd4c15635bb5a37eb34da6ac9d405e
https://pubmed.ncbi.nlm.nih.gov/7504402
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9
Feasibility of prenatal diagnosis of beta-thalassemia using two highly polymorphic microsatellites 5' to the beta-globin gene
Autor: G, Loudianos, A, Cao, M, Pirastu
Publikováno v: Haematologica. 77(4)
Short tandem repeats (STRs) are highly informative loci within the human genome, consisting of short nucleotide sequences tandemly repeated in variable numbers. This results in different alleles of variable length. Herein we describe two STRS located
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::35c7c30f0c7eb12f0811bdfe5e63113c
https://pubmed.ncbi.nlm.nih.gov/1427447
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10
Normal delta-globin gene sequences in Sardinian nondeletional delta beta-thalassemia
Autor: G, Loudianos, P, Moi, J, Lavinha, R, Galanello, A, Cao, M, Pirastu
Publikováno v: Hemoglobin. 16(6)
In order to clarify the reasons for the reduced Hb A2 levels in Sardinian delta beta-thalassemia, we characterized, both by cloning and sequence analysis and by direct sequencing of amplified DNA, the delta-globin gene from an individual of Sardinian
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::0942641e59059143486bc6d8b36e73b0
https://pubmed.ncbi.nlm.nih.gov/1487421
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