Antonarakis SE - Search Results

1

Spectrum of mutations in CRM-positive and CRM-reduced hemophilia A.

McGinniss MJ, Kazazian HH Jr, Hoyer LW, Bi L, Inaba H, Antonarakis SE. McGinniss MJ, et al. Among authors: antonarakis se. Genomics. 1993 Feb;15(2):392-8. doi: 10.1006/geno.1993.1073. Genomics. 1993. PMID: 8449505 Free article.

2

Detection of mutations in the factor VIII gene using single-stranded conformational polymorphism (SSCP).

Economou EP, Kazazian HH Jr, Antonarakis SE. Economou EP, et al. Among authors: antonarakis se. Genomics. 1992 Jul;13(3):909-11. doi: 10.1016/0888-7543(92)90189-y. Genomics. 1992. PMID: 1639429 Free article. No abstract available.

3

Nonhomologous recombination in the human genome: deletions in the human factor VIII gene.

Woods-Samuels P, Kazazian HH Jr, Antonarakis SE. Woods-Samuels P, et al. Among authors: antonarakis se. Genomics. 1991 May;10(1):94-101. doi: 10.1016/0888-7543(91)90489-2. Genomics. 1991. PMID: 1904396

4

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.

Higuchi M, Kazazian HH Jr, Kasch L, Warren TC, McGinniss MJ, Phillips JA 3rd, Kasper C, Janco R, Antonarakis SE. Higuchi M, et al. Among authors: antonarakis se. Proc Natl Acad Sci U S A. 1991 Aug 15;88(16):7405-9. doi: 10.1073/pnas.88.16.7405. Proc Natl Acad Sci U S A. 1991. PMID: 1908096 Free PMC article.

5

Molecular characterization of mild-to-moderate hemophilia A: detection of the mutation in 25 of 29 patients by denaturing gradient gel electrophoresis.

Higuchi M, Antonarakis SE, Kasch L, Oldenburg J, Economou-Petersen E, Olek K, Arai M, Inaba H, Kazazian HH Jr. Higuchi M, et al. Among authors: antonarakis se. Proc Natl Acad Sci U S A. 1991 Oct 1;88(19):8307-11. doi: 10.1073/pnas.88.19.8307. Proc Natl Acad Sci U S A. 1991. PMID: 1924291 Free PMC article.

6

Characterization of mutations in the factor VIII gene by direct sequencing of amplified genomic DNA.

Higuchi M, Wong C, Kochhan L, Olek K, Aronis S, Kasper CK, Kazazian HH Jr, Antonarakis SE. Higuchi M, et al. Among authors: antonarakis se. Genomics. 1990 Jan;6(1):65-71. doi: 10.1016/0888-7543(90)90448-4. Genomics. 1990. PMID: 2105906

7

Use of denaturing gradient gel electrophoresis to detect point mutations in the factor VIII gene.

Traystman MD, Higuchi M, Kasper CK, Antonarakis SE, Kazazian HH Jr. Traystman MD, et al. Among authors: antonarakis se. Genomics. 1990 Feb;6(2):293-301. doi: 10.1016/0888-7543(90)90569-g. Genomics. 1990. PMID: 2106480

8

Mild hemophilia A resulting from Arg-to-Leu substitution in exon 26 of the factor VIII gene.

Inaba H, Fujimaki M, Kazazian HH Jr, Antonarakis SE. Inaba H, et al. Among authors: antonarakis se. Hum Genet. 1989 Mar;81(4):335-8. doi: 10.1007/BF00283686. Hum Genet. 1989. PMID: 2495245

9

Characterization of a nondeleterious L1 insertion in an intron of the human factor VIII gene and further evidence of open reading frames in functional L1 elements.

Woods-Samuels P, Wong C, Mathias SL, Scott AF, Kazazian HH Jr, Antonarakis SE. Woods-Samuels P, et al. Among authors: antonarakis se. Genomics. 1989 Apr;4(3):290-6. doi: 10.1016/0888-7543(89)90332-7. Genomics. 1989. PMID: 2497061

10

Nonsense and missense mutations in hemophilia A: estimate of the relative mutation rate at CG dinucleotides.

Youssoufian H, Antonarakis SE, Bell W, Griffin AM, Kazazian HH Jr. Youssoufian H, et al. Among authors: antonarakis se. Am J Hum Genet. 1988 May;42(5):718-25. Am J Hum Genet. 1988. PMID: 2833855 Free PMC article.

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