Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Effrosini P. Economou"'
Publikováno v:
American Journal of Medical Genetics. 42:173-179
Leber hereditary optic neuropathy (LHON) is a maternally inherited disorder characterized by bilateral acute or subacute loss of central vision, primarily in young males. A G----A single base mutation at 11778nt of the mitochondrial genome which elim
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8926a2604a922ea08ffb1977cd716dc1
https://doi.org/10.1002/ajmg.1320420208
https://doi.org/10.1002/ajmg.1320420208
Autor:
Haig H. Kazazian, GR Serjeant, Effrosini P. Economou, George J. Dover, Stylianos E. Antonarakis
Publikováno v:
Blood. 77:174-177
Single nucleotide substitutions in the promoter regions of the A gamma- and G gamma-globin genes have been associated with increased fetal hemoglobin (HbF) production. We wished to determine whether these or other unrecognized substitutions in the ga
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1f679acd192be8ec6871fb7bf17aacc4
https://doi.org/10.1182/blood.v77.1.174.bloodjournal771174
https://doi.org/10.1182/blood.v77.1.174.bloodjournal771174
Publikováno v:
Proceedings of the National Academy of Sciences. 87:2951-2954
To identify DNA polymorphisms that are abundant in the human genome and are detectable by polymerase chain reaction amplification of genomic DNA, we tested the hypothesis that the polydeoxyadenylate tract of the Alu family of repetitive elements is p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a3862337579c15a7bd39f3ecafbac3ec
https://doi.org/10.1073/pnas.87.8.2951
https://doi.org/10.1073/pnas.87.8.2951
Publikováno v:
Genomics. 13:909-911
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c24369111e52d9f085f0c167b0c88a09
https://doi.org/10.1016/0888-7543(92)90189-y
https://doi.org/10.1016/0888-7543(92)90189-y
Autor:
Aravinda Chakravarti, Michael B. Petersen, Effrosini P. Economou, Susan A. Slaugenhaupt, Stylianos E. Antonarakis
Publikováno v:
Genomics. 7:136-138
A (GT)n repeat in intron 4 of the functional human HMG14 gene on chromosome 21 was used as polymorphic marker to map this gene relative to the genetic linkage map of human chromosome 21. Variation in the length of the (GT)n repeat was detected by ele
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10435d4528d2111cc24cd94e8295a5d3
https://doi.org/10.1016/0888-7543(90)90531-x
https://doi.org/10.1016/0888-7543(90)90531-x
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
https://pubmed.ncbi.nlm.nih.gov/1705403
Autor:
Stylianos E. Antonarakis, E. de la Mora, Effrosini P. Economou, B. Ibarra, Carol C. Dowling, Haig H. Kazazian
Publikováno v:
Genomics. 11:474
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7db32ca1f8e1c605ac20f845f5b62b79
https://doi.org/10.1016/0888-7543(91)90161-7
https://doi.org/10.1016/0888-7543(91)90161-7