H. Kazazian

发表

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

S. Antonarakis, H. Kazazian, K. Olek, 1990, Genomics.

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.

S. Antonarakis, H. Kazazian, L. Kasch, 1991, Proceedings of the National Academy of Sciences of the United States of America.

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

S. Antonarakis, H. Kazazian, H. Kazazian, 1992, Genomics.

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

S. Antonarakis, H. Kazazian, M. Mcginniss, 1993, Genomics.

Beta-thalassemia due to two novel nucleotide substitutions in consensus acceptor splice sequences of the beta-globin gene.

S. Orkin, S. Antonarakis, D. Nathan, 1989, Blood.

Molecular etiology of factor VIII deficiency in hemophilia A.

S. Antonarakis, P. Hutter, J. Gitschier, 1995, Advances in experimental medicine and biology.

Hemophilia A. Detection of molecular defects and of carriers by DNA analysis.

S. Antonarakis, G. Stamatoyannopoulos, H. Kazazian, 1985, The New England journal of medicine.

Molecular characterization of a beta zero-thalassemia resulting from a 1.4 kilobase deletion.

H. Kazazian, R. Anand, C. Boehm, 1988, Blood.

Adult Hemoglobin Synthesis by Reticulocytes from the Human Fetus at Midtrimester

M. Hollenberg, H. Kazazian, H. Kazazian, 1971, Science.

Abnormal RNA processing due to the exon mutation of beta E-globin gene.

H. Ostrer, S. Orkin, S. Antonarakis, 1982, Nature.

Molecular genetics of hemophilia A in man (factor VIII deficiency).

S. Antonarakis, H. Youssoufian, H. Kazazian, 1987, Molecular biology & medicine.

Analysis of DNA polymorphism haplotypes linked to the cystic fibrosis locus in North American black and Caucasian families supports the existence of multiple mutations of the cystic fibrosis gene.

K. Buetow, S. Antonarakis, G. Cutting, 1989, American journal of human genetics.

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

S. Antonarakis, H. Kazazian, M. Higuchi, 1990, Genomics.

Macrorestriction mapping of COL4A1 and COL4A2 collagen genes on human chromosome 13q34.

S. Antonarakis, G. Cutting, Y. Yamada, 1988, Genomics.

Tay-Sachs screening: motives for participating and knowledge of genetics and probability.

B. Childs, L. Gordis, H. Kazazian, 1976, American journal of human genetics.

beta-Thalassemia in American Blacks: novel mutations in the "TATA" box and an acceptor splice site.

S. Antonarakis, A. F. Scott, S. Charache, 1984, Proceedings of the National Academy of Sciences of the United States of America.

Moderately severe hemophilia A resulting from Glu----Gly substitution in exon 7 of the factor VIII gene.

S. Antonarakis, H. Youssoufian, C. Wong, 1988, American journal of human genetics.

Nonrandom association of polymorphic restriction sites in the beta-globin gene cluster.

S. Antonarakis, H. Kazazian, C. Boehm, 1982, Proceedings of the National Academy of Sciences of the United States of America.

Polymorphism and molecular pathology of the human beta-globin gene.

S. Orkin, S. Antonarakis, H. Kazazian, 1983, Progress in hematology.

On the origin and spread of beta-thalassemia: recurrent observation of four mutations in different ethnic groups.

S. Orkin, S. Antonarakis, C. Boehm, 1986, Proceedings of the National Academy of Sciences of the United States of America.

Direct characterization of factor VIII in plasma: detection of a mutation altering a thrombin cleavage site (arginine-372----histidine).

S. Antonarakis, M. Higuchi, H. Kazazian, 1989, Proceedings of the National Academy of Sciences of the United States of America.

New amber mutation in a beta-thalassemic gene with nonmeasurable levels of mutant messenger RNA in vivo.

H. Kazazian, B. Forget, H. Kazazian, 1988, The Journal of clinical investigation.

Ring Chromosome 21: Characterization of DNA Sequences at Sites of Breakage and Reunion

S. Antonarakis, J. Gusella, H. Kazazian, 1985, Annals of the New York Academy of Sciences.

A linkage map of three anonymous human DNA fragments and SOD‐1 on chromosome 21.

A. Chakravarti, S. Antonarakis, R. Tanzi, 1985, The EMBO journal.

Evidence for multiple origins of the beta E-globin gene in Southeast Asia.

H. Ostrer, A. Chakravarti, S. Orkin, 1982, Proceedings of the National Academy of Sciences of the United States of America.

Tay-Sachs screening: social and psychological impact.

B. Childs, L. Gordis, H. Kazazian, 1976, American journal of human genetics.

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

S. Antonarakis, H. Kazazian, J. Oldenburg, 1991, Proceedings of the National Academy of Sciences of the United States of America.

Characterization of a thrombin cleavage site mutation (Arg 1689 to Cys) in the factor VIII gene of two unrelated patients with cross-reacting material-positive hemophilia A.

S. Antonarakis, M. Higuchi, H. Kazazian, 1990, Blood.

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

S. Antonarakis, H. Youssoufian, H. Kazazian, 1988, American journal of human genetics.

Characterization of five partial deletions of the factor VIII gene.

S. Antonarakis, H. Youssoufian, S. Aronis, 1987, Proceedings of the National Academy of Sciences of the United States of America.

Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition.

E G Tuddenham, S. Antonarakis, D. Cooper, 1994, Nucleic acids research.

Partial correction of a severe molecular defect in hemophilia A, because of errors during expression of the factor VIII gene.

S. Antonarakis, H. Kazazian, M. Higuchi, 1997, American journal of human genetics.

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

H. Kazazian, R. Sarkar, W. Xiao, 2003, Journal of thrombosis and haemostasis : JTH.

The molecular basis of hemophilia A in man.

S. Antonarakis, H. Kazazian, 1988, Trends in genetics : TIG.

Mild hemophilia A associated with a cryptic donor splice site mutation in intron 4 of the factor VIII gene.

S. Antonarakis, H. Youssoufian, S. Aronis, 1988, Genomics.

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

S. Antonarakis, H. Kazazian, H. Kazazian, 1991, Genomics.

Molecular mechanism in the formation of a human ring chromosome 21.

S. Antonarakis, W. Earnshaw, G. Stetten, 1989, Proceedings of the National Academy of Sciences of the United States of America.

Fetal hemoglobin synthesis in erythroid cultures in hereditary persistence of fetal hemoglobin and beta o-thalassemia.

S. Orkin, S. Antonarakis, B. Alter, 1984, Blood.

Deletion of the β-globin structure gene in hereditary persistence of foetal haemoglobin

S. Charache, H. Kazazian, A. Dozy, 1975, Nature.

Molecular characterization of seven beta‐thalassemia mutations in Asian Indians.

S. Orkin, S. Antonarakis, P. Waber, 1984, The EMBO journal.

The mutation and polymorphism of the human beta-globin gene and its surrounding DNA.

S. Orkin, H. Kazazian, 1984, Annual review of genetics.

Base substitution at position -88 in a beta-thalassemic globin gene. Further evidence for the role of distal promoter element ACACCC.

S. Orkin, S. Antonarakis, H. Kazazian, 1984, The Journal of biological chemistry.

Thalassemia due to a mutation in the cleavage‐polyadenylation signal of the human beta‐globin gene.

S. Orkin, S. Antonarakis, H. Kazazian, 1985, The EMBO journal.

Characterization of a spontaneous mutation to a beta-thalassemia allele.

S. Orkin, P. Newburger, C. Boehm, 1986, American journal of human genetics.

Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster.

S. Orkin, S. Antonarakis, P. Waber, 1982, Nature.

Two patients with cystic fibrosis, nonsense mutations in each cystic fibrosis gene, and mild pulmonary disease.

L. Tsui, S. Antonarakis, H. Kazazian, 1990, The New England journal of medicine.

A New Mutation in IVS-1 of the Human Globin Gene Causing

E. Antonarakis, Wong, Bernard, 2005 .

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

T. Papayannopoulou, H. Kazazian, H. Brickner, 1994, Blood.

Unbalanced translocation, t(18;21), detected by fluorescence in situ hybridization (FISH) in a child with 18q- syndrome and a ring chromosome 21.

S. Antonarakis, P. Pearson, G. Stetten, 1993, American journal of medical genetics.

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.

S. Antonarakis, A. F. Scott, C. Wong, 1989, Genomics.

Linkage map of the short arm of human chromosome 11: location of the genes for catalase, calcitonin, and insulin-like growth factor II.

S. Antonarakis, D. Meyers, R. Korneluk, 1985, Proceedings of the National Academy of Sciences of the United States of America.

Inactivation of an acceptor RNA splice site by a short deletion in beta-thalassemia.

S. Orkin, H. Kazazian, S. C. Goff, 1983, The Journal of biological chemistry.

The varieties of mutation.

S. Antonarakis, H. Kazazian, 1988, Progress in medical genetics.

Ratios of α-to β-globin mRNA and regulation of globin synthesis in reticulocytes

H. Kazazian, H. Kazazian, J. Phillips, 1977, Nature.

X-Linked 6-Phosphogluconate Dehydrogenase in Drosophila: Subunit Associations

B. Childs, H. Kazazian, W. Young, 1965, Science.

ATA box transcription mutation in beta-thalassemia.

S. Orkin, H. Kazazian, P. Giardina, 1983, Nucleic acids research.

Molecular characterization of a beta zero-thalassemia resulting from a 1.4 kilobase deletion.

C. Boehm, H. Kazazian, R. Anand, 1988, Blood.

Restriction site polymorphism in the phosphoglycerate kinase gene on the X chromosome

A. Michelson, S. Orkin, S. Antonarakis, 2004, Human Genetics.

Molecular Studies of β‐Thalassemia in Israel

H. Kazazian, A. Oppenheim, D. Filon, 1990 .

Evidence for involvement of a Robertsonian translocation 13 chromosome in formation of a ring chromosome 13.

S. Antonarakis, K. Blakemore, G. Stetten, 1990, Molecular biology & medicine.

Hemophilia A due to mutations that create new N-glycosylation sites.

S. Antonarakis, M. Higuchi, C. Kasper, 1992, Proceedings of the National Academy of Sciences of the United States of America.

800 ANAIXSIS OF DNA HAPLOTYPES SUGGESTS A GENETIC PREDISPOSITION TO TRISOMY 21 ASSOCIATED WITH DNA SEQUENCES ON CHROMOSOME 21

S. Antonarakis, H. Kazazian, S. Kittur, 1985, Pediatric Research.

Accuracy and limitations of pulsed field gel electrophoresis in sizing partial deletions of the factor VIII gene.

S. Antonarakis, H. Kazazian, G. Cutting, 1988, Molecular biology & medicine.

Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene.

D. Cooper, J. Gitschier, R. Schwaab, 1991, Nucleic Acids Research.

beta-Thalassemia due to a deletion of the nucleotide which is substituted in the beta S-globin gene.

S. Orkin, S. Antonarakis, C. Boehm, 1983, American journal of human genetics.