Výsledky vyhledávání - "H H, Kazazian"

A single adeno-associated virus (AAV)-murine factor VIII vector partially corrects the hemophilia A phenotype

Autor: Rita Sarkar, H. H. Kazazian, W. Xiao

Publikováno v: Journal of thrombosis and haemostasis : JTH. 1(2)

Summary. A major obstacle for delivery of factor (F)VIII using adeno-associated virus (AAV) vectors is the large size of FVIII cDNA, which is well above the 5 kb packaging limit for AAV. Here we construct a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43117df04db1eb46e9c91944abdb86f4
https://pubmed.ncbi.nlm.nih.gov/12871491

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Genetics. L1 retrotransposons shape the mammalian genome

Autor: H H, Kazazian

Publikováno v: Science (New York, N.Y.). 289(5482)

What are all of those retrotransposons doing buzzing about in our genome? According to Kazazian, in his Perspective this week, these mobile pieces of DNA are busy reshaping our genome, making it more diverse and enabling us to survive and thrive thro

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::14415d3a00f68c97b86e495bac164053
https://pubmed.ncbi.nlm.nih.gov/10970230

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Independent occurrence of the novel Arg2163 to His mutation in the factor VIII gene in three unrelated families with haemophila A with different phenotypes. Mutations in brief no. 126. Online

Autor: B D, Theophilus, M S, Enayat, M, Higuchi, H H, Kazazian, S E, Antonarakis, F G, Hill

Publikováno v: Human mutation. 11(4)

Using chemical mismatch analysis or denaturing gradient gel electrophoresis followed by nucleotide sequencing, we have identified the same G6545A mutation leading to an Arg2163 His subsitution in the factor VIII gene of three haemophiliacs from unrel

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::ea181aae373a8f48a0dade308139a8cb
https://pubmed.ncbi.nlm.nih.gov/10215414

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The molecular basis for cross-reacting material-positive hemophilia A due to missense mutations within the A2-domain of factor VIII

Autor: K, Amano, R, Sarkar, S, Pemberton, G, Kemball-Cook, H H, Kazazian, R J, Kaufman

Publikováno v: Blood. 91(2)

Factor VIII (FVIII) is the protein defective in the bleeding disorder hemophilia A. Approximately 5% of hemophilia A patients have normal amounts of a dysfunctional FVIII protein and are termed cross-reacting material (CRM)-positive. The majority of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::f6c08704522ecb9b3d244ee5b738c804
https://pubmed.ncbi.nlm.nih.gov/9427707

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The changing profile of homozygous beta-thalassemia: demography, ethnicity, and age distribution of current North American patients and changes in two decades

Autor: H A, Pearson, A R, Cohen, P J, Giardina, H H, Kazazian

Publikováno v: Pediatrics. 97(3)

The age of patients with homozygous beta-thalassemia is increasing because of better treatment and decreased births. A countering influence is immigration of ethnic groups with a high prevalence of thalassemia.a questionnaire sent to 48 North America

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::15b7a29f2beb59f5003504fcd244b4ce
https://pubmed.ncbi.nlm.nih.gov/8604269

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The Johns Hopkins University Collaborative Schizophrenia Study: an epidemiologic-genetic approach to test the heterogeneity hypothesis and identify schizophrenia susceptibility genes

Autor: A E, Pulver, P S, Wolyniec, D, Housman, H H, Kazazian, S E, Antonarakis, G, Nestadt, V K, Lasseter, J A, McGrath, B, Dombroski, M, Karayiorgou, C, Ton, J L, Blouin, L, Kempf

Publikováno v: Cold Spring Harbor Symposia on Quantitative Biology, Vol. 61 (1996) pp. 797-814

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::93a2dca1d41df70bf0e2b8bd2c8cbb37
https://archive-ouverte.unige.ch/unige:9248

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Increased expression of the G gamma and A gamma globin genes associated with a mutation in the A gamma enhancer

Autor: G, Balta, H E, Brickner, S, Takegawa, H H, Kazazian, T, Papayannopoulou, B G, Forget, G F, Atweh

Publikováno v: Blood. 83(12)

We have previously described a unique type of delta beta-thalassemia in a Chinese family characterized by increased expression of the G gamma and A gamma fetal globin genes in the absence of a large deletion in the beta-globlin gene cluster. Our earl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::96876c8ce93759d42dcc38929bc79312
https://pubmed.ncbi.nlm.nih.gov/7515719

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The molecular basis of hemophilia A and the present status of carrier and antenatal diagnosis of the disease

Autor: H H, Kazazian

Publikováno v: Thrombosis and haemostasis. 70(1)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::835a6b9819d24ea4203b19973f5e5a78
https://pubmed.ncbi.nlm.nih.gov/8236115

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Mechanisms of ring chromosome formation in 11 cases of human ring chromosome 21

Autor: M J, McGinniss, H H, Kazazian, G, Stetten, M B, Petersen, H, Boman, E, Engel, F, Greenberg, J M, Hertz, A, Johnson, Z, Laca

Publikováno v: American journal of human genetics. 50(1)

We studied the mechanism of ring chromosome 21 (r(21)) formation in 13 patients (11 unique r(21)s), consisting of 7 from five families with familial r(21) and 6 with de novo r(21). The copy number of chromosome 21 sequences in the rings of these pati

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::3153cc6da70bc8c213e30815b0b0d823
https://pubmed.ncbi.nlm.nih.gov/1346075

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