Výsledky vyhledávání - "Tina C. Warren"

Detection of the hemoglobin E mutation using the color complementation assay: application to complex genotyping

Autor: Farid F. Chehab, Patricia Cornett, Tina C. Warren, Stephen H. Embury, Thomas S. Stanton, Gerald L. Kropp

Publikováno v: Blood. 76:619-623

The color complementation assay (CCA) is a method of allele-specific DNA amplification by which competitive priming and extension of fluorescently labeled oligonucleotide primers determine the color of DNA amplification product. This diagnostic metho

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::5b385e89c984d728872177ae21ce5861
https://doi.org/10.1182/blood.v76.3.619.619

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Alpha-Thalassemia: Prenatal Diagnosis and Neonatal Implications

Autor: Tina C. Warren, Victor R. Klein, Larry C. Gilstrap, Mark C. Maberry, Corinne D. Boehm

Publikováno v: American Journal of Perinatology. 7:356-358

Homozygous alpha-thalassemia major, or Bart's hemoglobinopathy, is the most common etiology of nonimmune hydrops in those of Oriental descent. The prenatal diagnosis can now be made utilizing DNA hybridization technique from fetal cells obtained by e

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7856b15e11c2d19d9304975c1ef7c10
https://doi.org/10.1055/s-2007-999522

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The molecular basis of beta thalassaemia in Punjabi and Maharashtran Indians includes a multilocus aetiology involving triplicated alpha-globin loci

Autor: Tina C. Warren, Chitra Mahadik, Ram Kumar Marwaha, Gurjevan Garewal, Neelam Marwaha, Haig H. Kazazian, Clair W. Fearon

Publikováno v: British journal of haematology. 86(2)

We have analysed 201 beta-thalassaemia (beta-thal) genes from natives of the Punjab (156) and Maharashtra states of India and found the causative mutation in 200 of them. The most common beta-globin gene mutations differed significantly between these

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e04b1380a8700b5eab2e685f2e0ce24a
https://pubmed.ncbi.nlm.nih.gov/8199027

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Evolution of a genetic disease in an ethnic isolate: beta-thalassemia in the Jews of Kurdistan

Autor: Deborah Rund, Eliezer A. Rachmilewitz, Ariella Oppenheim, Tina C. Warren, Carol E. Dowling, Tirza Cohen, Dvora Filon, Haig H. Kazazian, Igal Barak

beta-Thalassemia is a hereditary disease caused by any of 90 different point mutations in the beta-globin gene. Specific populations generally carry a small number of mutations, the most common of which are those that are widely distributed regionall

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a8193436db0b96bf08eeb316479ae3b
https://europepmc.org/articles/PMC50800/

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Gene defects in beta-thalassemia and their prenatal diagnosis

Autor: Haig H. Kazazian, Carol E. Dowling, Stylianos E. Antonarakis, Joel Katz, Effrosini P. Economou, Tina C. Warren, Corinne D. Boehm

Publikováno v: Annals of the New York Academy of Sciences. 612

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19dc2abc6ab088490964d29716b734bd
https://pubmed.ncbi.nlm.nih.gov/1705403

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Diagnosis of sickle cell anemia and beta-thalassemia with enzymatically amplified DNA and nonradioactive allele-specific oligonucleotide probes

Autor: Corinne D. Boehm, Haig H. Kazazian, Tina C. Warren, Corey Levenson, Henry A. Erlich, Chu an Chang, Randall Keichi Saiki

Publikováno v: The New England journal of medicine. 319(9)

We have developed a simple and rapid nonradioactive method for detecting genetic variation and have applied it to the diagnosis of sickle cell anemia and beta-thalassemia. The procedure involves the selective amplification of a segment of the human b

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4cbaf1fbd32b91d22feb5a72ad48a5c
https://pubmed.ncbi.nlm.nih.gov/3405266

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Molecular characterization of severe hemophilia A suggests that about half the mutations are not within the coding regions and splice junctions of the factor VIII gene

Autor: Haig H. Kazazian, Laura Kasch, Miyoko Higuchi, Stylianos E. Antonarakis, John A. Phillips, Robert L. Janco, Matthew J. McGinniss, Tina C. Warren, Carol K. Kasper

Publikováno v: Scopus-Elsevier

Hemophilia A is an X chromosome-linked disorder resulting from deficiency of factor VIII, an important protein in blood coagulation. A large number of disease-producing mutations have been reported in the factor VIII gene. However, a comprehensive an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b4d0d8fffd1c5a344b915b30570ead5
http://www.scopus.com/inward/record.url?eid=2-s2.0-0025820639&partnerID=MN8TOARS

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