Výsledky vyhledávání - "M. A. Cürük"

Genetic heterogeneity of β-thalassemia in southeast sicily

Autor: Z. Ye, Elena Mirabile, R. Liang, Piera Samperi, M. A. Cürük, Titus H.J. Huisman, F Di Gregorio, Gino Schilirò

Publikováno v: American Journal of Hematology. 48:5-11

In this study we have defined the spectrum of the beta-thalassemia mutations, the beta-thalassemia haplotypes, and the genotype-to-phenotype correlations in a large number of patients with different beta-thalassemia conditions. Seventeen different be

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eea1874bf213145bd675939d7971b314
https://doi.org/10.1002/ajh.2830480103

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A Newly Discovered β°-Thalassemia (IVS-11-850, G→A) Mutation in a North European Family

Autor: S. C. Howard, Titus H.J. Huisman, Abdullah Kutlar, M. A. Cürük

Publikováno v: Hemoglobin. 19:207-211

β-Thalassemia (thal) is one of the most common genetic disorders in the world and is caused by specific mutations within the β-globin gene and, less frequently, by the deletion of (part of) the β gene. A recently published list of alleles mentions

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a1100c325b72b5101b2bd48d36e575c2
https://doi.org/10.3109/03630269509036942

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β-thalassemia alleles and unstable hemoglobin types among russian pediatric patients

Autor: Titus H.J. Huisman, D. D. Pobedimskaya, T. P. Molchanova, M. A. Cürük, S. Kolodey, R. Liang, A. G. Rumyantsev, Yu. V. Postnikov, Yu. N. Tokarev, N. S. Smetanina, E. Baysal

Publikováno v: American Journal of Hematology. 46:329-332

A recently initiated collaboration between Russian and American institutions has resulted in the characterization of several known or new beta-thalassemia alleles and unstable hemoglobin types. Nine known beta-thalassemia alleles were present which h

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::320cfa271bcf8e0d2138f55f9020327b
https://doi.org/10.1002/ajh.2830460413

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Hb adana or α259(E8)Gly→Aspβ2, A severely unstable α1-globin variant, observed in combination with the -(α)20.5 KB α-thal-1 deletion in two Turkish patients

Autor: T. P. Molchanova, Aytemiz Gurgey, Brooke B. Webber, E. Baysal, M. A. Cürük, Ferdane Kutlar, Titus H.J. Huisman, L.-H. Gu, A. J. Dimovski, Cigdem Altay

Publikováno v: American Journal of Hematology. 44:270-275

We have identified a severely unstable hemoglobin variant through sequencing of amplified DNA involving the α1-globin gene; the mutation is located in codon 59 (CCG CAG) andresults in a Gly—Asp replacement. This amino acid substitution concerns a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::21ee7aca908ebdf93e17e58d85153301
https://doi.org/10.1002/ajh.2830440410

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An IVS-I-117 (G→A) acceptor splice site mutation in the α 1-globin gene is a nondeletional α-thalassaemia-2 determinant in an Indian population

Autor: R. B. Gupta, E. Baysal, S. Sharma, Titus H.J. Huisman, M. A. Cürük

Publikováno v: British Journal of Haematology. 85:148-152

In 1991 we reported the identification of two deletional alpha-thalassaemia-2 determinants (-3.7 kb and -4.2 kb) and one nondeletional alpha-thalassaemia-2 determinant (Hb Koya Dora alpha 2 codon 142, TAA--TCA) in a tribal population in Central India

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5b8972830f1bd1b8cec66bdaf4630eac
https://doi.org/10.1111/j.1365-2141.1993.tb08658.x

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Prenatal diagnosis of Hb H disease caused by a homozygosity for the alpha2 poly A (AATAAA--AATAAG) mutation

Autor: Yurdanur Kilinç, Evrüke C, Güneş T. Yüregir, Ozgünen Ft, Kıymet Aksoy, M. A. Cürük

Publikováno v: Hemoglobin. 25(2)

The human α-globin gene cluster is located on the short arm of chromosome 16 and consists of four genes and three pseudo genes, arranged in the following order 5′ -ζ -ψ ζ -ψ α 2-ψα 1-α 2-α 1-θ -3′ ...

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f1a9115a6c16e2b91a6b9100600e687b
https://pubmed.ncbi.nlm.nih.gov/11480787

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HB Shelby [α2β2131(H9)GLN→LYS]-β°-Thalassemia [Codon 15 (TGG→TGA)] Identified by DNA Sequencing

Autor: Titus H.J. Huisman, M. A. Cürük, Abdullah Kutlar

Publikováno v: Hemoglobin. 16:417-419

(1992). HB Shelby [α2β2131(H9)GLN→LYS]-β°-Thalassemia [Codon 15 (TGG→TGA)] Identified by DNA Sequencing. Hemoglobin: Vol. 16, No. 5, pp. 417-419.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::4eb78bbfa2cd2cef4cf95c0ad3840838
https://doi.org/10.3109/03630269209005694

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The T--C mutation at position +96 of the untranslated region 3' to the terminating codon of the beta-globin gene is a rare polymorphism that does not cause a beta-thalassemia as previously ascribed

Autor: R. Öner, E. L. D. Walker, M. A. Cürük, E. Baysal, Karel Indrák, Titus H.J. Huisman, V. Divoky

Publikováno v: Human genetics. 93(1)

We have observed a T--C mutation at position +96 of the untranslated region 3' to the terminating codon of the beta-globin gene in members of two Czech families and one black family. Data from initial studies suggested that this change was the cause

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9452b64f91138cac427035b454642389
https://pubmed.ncbi.nlm.nih.gov/8270260

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