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Haig Kazazian

This is a preview profile on BiomedExperts - the first literature-based scientific social network. It brings the right researchers together and allows them to collaborate online. Collexis and Dell provide the BiomedExperts network of +1.5 Million pre-calculated profiles free of charge to researchers worldwide.

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Publications

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Hancks Dustin C; Ewing Adam D; Chen Jesse E; Tokunaga Katsushi; Kazazian Haig H
Exon-trapping mediated by the human retrotransposon SVA.
Rangwala Sanjida H; Kazazian Haig H
The L1 retrotransposition assay: a retrospective and toolkit.
Kano Hiroki; Godoy Irene; Courtney Christine; Vetter Melissa R; Gerton George L; Ostertag Eric M; Kazazian Haig H
L1 retrotransposition occurs mainly in embryogenesis and creates somatic mosaicism.

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All Publications

2009: Hancks Dustin C; Ewing Adam D; Chen Jesse E; Tokunaga Katsushi; Kazazian Haig H
Exon-trapping mediated by the human retrotransposon SVA.
Genome research 2009;19(11):1983-91.
2009: Rangwala Sanjida H; Kazazian Haig H
The L1 retrotransposition assay: a retrospective and toolkit.
Methods (San Diego, Calif.) 2009;49(3):219-26.
2009: Kano Hiroki; Godoy Irene; Courtney Christine; Vetter Melissa R; Gerton George L; Ostertag Eric M; Kazazian Haig H
L1 retrotransposition occurs mainly in embryogenesis and creates somatic mosaicism.
Genes & development 2009;23(11):1303-12.
2009: Kazazian Haig H
Allan Award Lecture: on jumping fields and "jumping genes".
American journal of human genetics 2009;84(2):105-14.
2009: Rangwala Sanjida H; Zhang Lili; Kazazian Haig H
Many LINE1 elements contribute to the transcriptome of human somatic cells.
Genome biology 2009;10(9):R100.
2008: Mandal Prabhat K; Kazazian Haig H
SnapShot: Vertebrate transposons.
Cell 2008;135(1):192-192.e1.
2008: Goodier John L; Kazazian Haig H
Retrotransposons revisited: the restraint and rehabilitation of parasites.
Cell 2008;135(1):23-35.
2008: Cotton Richard G H; Kazazian Haig H; Cutting Garry R; Paalman Mark H
In memoriam: Victor A. McKusick (1921-2008).
Human mutation 2008;29(10):1169-70.
2007: Goodier John L; Zhang Lili; Vetter Melissa R; Kazazian Haig H
LINE-1 ORF1 protein localizes in stress granules with other RNA-binding proteins, including components of RNA interference RNA-induced silencing complex.
Molecular and cellular biology 2007;27(18):6469-83.
2007: Babushok Daria V; Ohshima Kazuhiko; Ostertag Eric M; Chen Xinsheng; Wang Yanfeng; Mandal Prabhat K; Okada Norihiro; Abrams Charles S; Kazazian Haig H
A novel testis ubiquitin-binding protein gene arose by exon shuffling in hominoids.
Genome research 2007;17(8):1129-38.
2007: van den Hurk José A J M; Meij Iwan C; Seleme Maria del Carmen; Kano Hiroki; Nikopoulos Konstantinos; Hoefsloot Lies H; Sistermans Erik A; de Wijs Ilse J; Mukhopadhyay Arijit; Plomp Astrid S; de Jong Paulus T V M; Kazazian Haig H; Cremers Frans P M
L1 retrotransposition can occur early in human embryonic development.
Human molecular genetics 2007;16(13):1587-92.
2007: Babushok Daria V; Kazazian Haig H
Progress in understanding the biology of the human mutagen LINE-1.
Human mutation 2007;28(6):527-39.
2007: Babushok D V; Ostertag E M; Kazazian H H
Current topics in genome evolution: molecular mechanisms of new gene formation.
Cellular and molecular life sciences : CMLS 2007;64(5):542-54.
2007: Chandler Randy J; Sloan Jennifer; Fu Hong; Tsai Matthew; Stabler Sally; Allen Robert; Kaestner Klaus H; Kazazian Haig H; Venditti Charles P
Metabolic phenotype of methylmalonic acidemia in mice and humans: the role of skeletal muscle.
BMC medical genetics 2007;8():64.
2006: Yang Nuo; Kazazian Haig H
L1 retrotransposition is suppressed by endogenously encoded small interfering RNAs in human cultured cells.
Nature structural & molecular biology 2006;13(9):763-71.
2006: Chandler Randy J; Aswani Vijay; Tsai Matthew S; Falk Marni; Wehrli Natasha; Stabler Sally; Allen Robert; Sedensky Margaret; Kazazian Haig H; Venditti Charles P
Propionyl-CoA and adenosylcobalamin metabolism in Caenorhabditis elegans: evidence for a role of methylmalonyl-CoA epimerase in intermediary metabolism.
Molecular genetics and metabolism 2006;89(1-2):64-73.
2006: Kubo Shuji; Seleme Maria Del Carmen; Soifer Harris S; Perez José Luis Garcia; Moran John V; Kazazian Haig H; Kasahara Noriyuki
L1 retrotransposition in nondividing and primary human somatic cells.
Proceedings of the National Academy of Sciences of the United States of America 2006;103(21):8036-41.
2006: Seleme Maria del Carmen; Vetter Melissa R; Cordaux Richard; Bastone Laurel; Batzer Mark A; Kazazian Haig H
Extensive individual variation in L1 retrotransposition capability contributes to human genetic diversity.
Proceedings of the National Academy of Sciences of the United States of America 2006;103(17):6611-6.
2006: Sarkar Rita; Mucci Melinda; Addya Sankar; Tetreault Renee; Bellinger Dwight A; Nichols Timothy C; Kazazian Haig H
Long-term efficacy of adeno-associated virus serotypes 8 and 9 in hemophilia a dogs and mice.
Human gene therapy 2006;17(4):427-39.
2006: Babushok Daria V; Ostertag Eric M; Courtney Christine E; Choi Janice M; Kazazian Haig H
L1 integration in a transgenic mouse model.
Genome research 2006;16(2):240-50.
2005: Ostertag Eric M; Kazazian Haig H
Genetics: LINEs in mind.
Nature 2005;435(7044):890-1.
2005: Purohit Vivek S; Ramani Karthik; Sarkar Rita; Kazazian Haig H; Balasubramanian Sathyamangalam V
Lower inhibitor development in hemophilia A mice following administration of recombinant factor VIII-O-phospho-L-serine complex.
The Journal of biological chemistry 2005;280(18):17593-600.
2005: Conley Mary Ellen; Partain Julie D; Norland Shannon M; Shurtleff Sheila A; Kazazian Haig H
Two independent retrotransposon insertions at the same site within the coding region of BTK.
Human mutation 2005;25(3):324-5.
2005: Yang Nuo; Zhang Lin; Kazazian Haig H
L1 retrotransposon-mediated stable gene silencing.
Nucleic acids research 2005;33(6):e57.
2004: Goodier John L; Ostertag Eric M; Engleka Kurt A; Seleme Maria C; Kazazian Haig H
A potential role for the nucleolus in L1 retrotransposition.
Human molecular genetics 2004;13(10):1041-8.
2004: Kazazian Haig H
Mobile elements: drivers of genome evolution.
Science (New York, N.Y.) 2004;303(5664):1626-32.
2004: Sarkar Rita; Tetreault Renee; Gao Guangping; Wang Lili; Bell Peter; Chandler Randy; Wilson James M; Kazazian Haig H
Total correction of hemophilia A mice with canine FVIII using an AAV 8 serotype.
Blood 2004;103(4):1253-60.
2004: Farley Alexander H; Luning Prak Eline T; Kazazian Haig H
More active human L1 retrotransposons produce longer insertions.
Nucleic acids research 2004;32(2):502-10.
2003: Deininger Prescott L; Moran John V; Batzer Mark A; Kazazian Haig H
Mobile elements and mammalian genome evolution.
Current opinion in genetics & development 2003;13(6):651-8.
2003: Ostertag Eric M; Goodier John L; Zhang Yue; Kazazian Haig H
SVA elements are nonautonomous retrotransposons that cause disease in humans.
American journal of human genetics 2003;73(6):1444-51.
2003: Lutz Sheila M; Vincent Bethaney J; Kazazian Haig H; Batzer Mark A; Moran John V
Allelic heterogeneity in LINE-1 retrotransposition activity.
American journal of human genetics 2003;73(6):1431-7.
2003: Scallan Ciaran D; Liu Tongyao; Parker Amy E; Patarroyo-White Susannah L; Chen Haifeng; Jiang Haiyan; Vargas Joseph; Nagy Dea; Powell Sharon K; Wright J Fraser; Sarkar Rita; Kazazian Haig H; McClelland Alan; Couto Linda B
Phenotypic correction of a mouse model of hemophilia A using AAV2 vectors encoding the heavy and light chains of FVIII.
Blood 2003;102(12):3919-26.
2003: Yang Nuo; Zhang Lin; Zhang Yue; Kazazian Haig H
An important role for RUNX3 in human L1 transcription and retrotransposition.
Nucleic acids research 2003;31(16):4929-40.
2003: Hrachovinová Ingrid; Cambien Beatrice; Hafezi-Moghadam Ali; Kappelmayer János; Camphausen Raymond T; Widom Angela; Xia Lijun; Kazazian Haig H; Schaub Robert G; McEver Rodger P; Wagner Denisa D
Interaction of P-selectin and PSGL-1 generates microparticles that correct hemostasis in a mouse model of hemophilia A.
Nature medicine 2003;9(8):1020-5.
2003: Brouha Brook; Schustak Joshua; Badge Richard M; Lutz-Prigge Sheila; Farley Alexander H; Moran John V; Kazazian Haig H
Hot L1s account for the bulk of retrotransposition in the human population.
Proceedings of the National Academy of Sciences of the United States of America 2003;100(9):5280-5.
2003: Sarkar R; Xiao W; Kazazian H H
A single adeno-associated virus (AAV)-murine factor VIII vector partially corrects the hemophilia A phenotype.
Journal of thrombosis and haemostasis : JTH 2003;1(2):220-6.
2003: Prak Eline T Luning; Dodson Allen W; Farkash Evan A; Kazazian Haig H
Tracking an embryonic L1 retrotransposition event.
Proceedings of the National Academy of Sciences of the United States of America 2003;100(4):1832-7.
2003: Mah Cathryn; Sarkar Rita; Zolotukhin Irene; Schleissing Mary; Xiao Xiao; Kazazian Haig H; Byrne Barry J
Dual vectors expressing murine factor VIII result in sustained correction of hemophilia A mice.
Human gene therapy 2003;14(2):143-52.
2002: Ostertag Eric M; DeBerardinis Ralph J; Goodier John L; Zhang Yue; Yang Nuo; Gerton George L; Kazazian Haig H
A mouse model of human L1 retrotransposition.
Nature genetics 2002;32(4):655-60.
2002: Kazazian Haig H; Goodier John L
LINE drive. retrotransposition and genome instability.
Cell 2002;110(3):277-80.
2002: Brouha Brook; Meischl Christof; Ostertag Eric; de Boer Martin; Zhang Yue; Neijens Herman; Roos Dirk; Kazazian Haig H
Evidence consistent with human L1 retrotransposition in maternal meiosis I.
American journal of human genetics 2002;71(2):327-36.
2001: Ostertag E M; Kazazian H H
Twin priming: a proposed mechanism for the creation of inversions in L1 retrotransposition.
Genome research 2001;11(12):2059-65.
2001: Goodier J L; Ostertag E M; Du K; Kazazian H H
A novel active L1 retrotransposon subfamily in the mouse.
Genome research 2001;11(10):1677-85.
2001: Soifer H; Higo C; Kazazian H H; Moran J V; Mitani K; Kasahara N
Stable integration of transgenes delivered by a retrotransposon-adenovirus hybrid vector.
Human gene therapy 2001;12(11):1417-28.
2001: Haas N B; Grabowski J M; North J; Moran J V; Kazazian H H; Burch J B
Subfamilies of CR1 non-LTR retrotransposons have different 5'UTR sequences but are otherwise conserved.
Gene 2001;265(1-2):175-83.
2001: Wei W; Gilbert N; Ooi S L; Lawler J F; Ostertag E M; Kazazian H H; Boeke J D; Moran J V
Human L1 retrotransposition: cis preference versus trans complementation.
Molecular and cellular biology 2001;21(4):1429-39.
2001: Kazazian H H
Retrotransposon insertions in germ cells and somatic cells.
Developments in biologicals 2001;106():307-13; discussion 313-4, 317-29.
2001: Ostertag E M; Kazazian H H
Biology of mammalian L1 retrotransposons.
Annual review of genetics 2001;35():501-38.
2000: Prak E T; Kazazian H H
Mobile elements and the human genome.
Nature reviews. Genetics 2000;1(2):134-44.
2000: Pulver A E; Mulle J; Nestadt G; Swartz K L; Blouin J L; Dombroski B; Liang K Y; Housman D E; Kazazian H H; Antonarakis S E; Lasseter V K; Wolyniec P S; Thornquist M H; McGrath J A
Genetic heterogeneity in schizophrenia: stratification of genome scan data using co-segregating related phenotypes.
Molecular psychiatry 2000;5(6):650-3.
2000: Kazazian H H
Genetics. L1 retrotransposons shape the mammalian genome.
Science (New York, N.Y.) 2000;289(5482):1152-3.
2000: Fakharzadeh S S; Zhang Y; Sarkar R; Kazazian H H
Correction of the coagulation defect in hemophilia A mice through factor VIII expression in skin.
Blood 2000;95(9):2799-805.
2000: Sarkar R; Gao G P; Chirmule N; Tazelaar J; Kazazian H H
Partial correction of murine hemophilia A with neo-antigenic murine factor VIII.
Human gene therapy 2000;11(6):881-94.
2000: Goodier J L; Ostertag E M; Kazazian H H
Transduction of 3'-flanking sequences is common in L1 retrotransposition.
Human molecular genetics 2000;9(4):653-7.
2000: Ostertag E M; Prak E T; DeBerardinis R J; Moran J V; Kazazian H H
Determination of L1 retrotransposition kinetics in cultured cells.
Nucleic acids research 2000;28(6):1418-23.
2000: Fakharzadeh S S; Kazazian H H
Correlation between factor VIII genotype and inhibitor development in hemophilia A.
Seminars in thrombosis and hemostasis 2000;26(2):167-71.
1999: Antonarakis S E; Blouin J L; Lasseter V K; Gehrig C; Radhakrishna U; Nestadt G; Housman D E; Kazazian H H; Kalman K; Gutman G; Fantino E; Chandy K G; Gargus J J; Pulver A E
Lack of linkage or association between schizophrenia and the polymorphic trinucleotide repeat within the KCNN3 gene on chromosome 1q21.
American journal of medical genetics 1999;88(4):348-51.
1999: Kimberland M L; Divoky V; Prchal J; Schwahn U; Berger W; Kazazian H H
Full-length human L1 insertions retain the capacity for high frequency retrotransposition in cultured cells.
Human molecular genetics 1999;8(8):1557-60.
1999: Curtis L; Blouin J L; Radhakrishna U; Gehrig C; Lasseter V K; Wolyniec P; Nestadt G; Dombroski B; Kazazian H H; Pulver A E; Housman D; Bertrand D; Antonarakis S E
No evidence for linkage between schizophrenia and markers at chromosome 15q13-14.
American journal of medical genetics 1999;88(2):109-12.
1999: DeBerardinis R J; Kazazian H H
Analysis of the promoter from an expanding mouse retrotransposon subfamily.
Genomics 1999;56(3):317-23.
1999: Moran J V; DeBerardinis R J; Kazazian H H
Exon shuffling by L1 retrotransposition.
Science (New York, N.Y.) 1999;283(5407):1530-4.
1999: Qian J; Borovok M; Bi L; Kazazian H H; Hoyer L W
Inhibitor antibody development and T cell response to human factor VIII in murine hemophilia A.
Thrombosis and haemostasis 1999;81(2):240-4.
1998: DeBerardinis R J; Goodier J L; Ostertag E M; Kazazian H H
Rapid amplification of a retrotransposon subfamily is evolving the mouse genome.
Nature genetics 1998;20(3):288-90.
1998: DeBerardinis R J; Kazazian H H
Full-length L1 elements have arisen recently in the same 1-kb region of the gorilla and human genomes.
Journal of molecular evolution 1998;47(3):292-301.
1998: Blouin J L; Dombroski B A; Nath S K; Lasseter V K; Wolyniec P S; Nestadt G; Thornquist M; Ullrich G; McGrath J; Kasch L; Lamacz M; Thomas M G; Gehrig C; Radhakrishna U; Snyder S E; Balk K G; Neufeld K; Swartz K L; DeMarchi N; Papadimitriou G N; Dikeos D G; Stefanis C N; Chakravarti A; Childs B; Housman D E; Kazazian H H; Antonarakis S; Pulver A E
Schizophrenia susceptibility loci on chromosomes 13q32 and 8p21.
Nature genetics 1998;20(1):70-3.
1998: Kazazian H H
Mobile elements and disease.
Current opinion in genetics & development 1998;8(3):343-50.
1998: Kazazian H H; Moran J V
The impact of L1 retrotransposons on the human genome.
Nature genetics 1998;19(1):19-24.
1998: Naas T P; DeBerardinis R J; Moran J V; Ostertag E M; Kingsmore S F; Seldin M F; Hayashizaki Y; Martin S L; Kazazian H H
An actively retrotransposing, novel subfamily of mouse L1 elements.
The EMBO journal 1998;17(2):590-7.
1997: Sassaman D M; Dombroski B A; Moran J V; Kimberland M L; Naas T P; DeBerardinis R J; Gabriel A; Swergold G D; Kazazian H H
Many human L1 elements are capable of retrotransposition.
Nature genetics 1997;16(1):37-43.
1997: Young M; Inaba H; Hoyer L W; Higuchi M; Kazazian H H; Antonarakis S E
Partial correction of a severe molecular defect in hemophilia A, because of errors during expression of the factor VIII gene.
American journal of human genetics 1997;60(3):565-73.
1996: Moran J V; Holmes S E; Naas T P; DeBerardinis R J; Boeke J D; Kazazian H H
High frequency retrotransposition in cultured mammalian cells.
Cell 1996;87(5):917-27.
1996: Feng Q; Moran J V; Kazazian H H; Boeke J D
Human L1 retrotransposon encodes a conserved endonuclease required for retrotransposition.
Cell 1996;87(5):905-16.
1996: Bi L; Sarkar R; Naas T; Lawler A M; Pain J; Shumaker S L; Bedian V; Kazazian H H
Further characterization of factor VIII-deficient mice created by gene targeting: RNA and protein studies.
Blood 1996;88(9):3446-50.
1996: Pulver A E; Wolyniec P S; Housman D; Kazazian H H; Antonarakis S E; Nestadt G; Lasseter V K; McGrath J A; Dombroski B; Karayiorgou M; Ton C; Blouin J L; Kempf L
The Johns Hopkins University Collaborative Schizophrenia Study: an epidemiologic-genetic approach to test the heterogeneity hypothesis and identify schizophrenia susceptibility genes.
Cold Spring Harbor symposia on quantitative biology 1996;61():797-814.
1995: Antonarakis S E; Blouin J L; Pulver A E; Wolyniec P; Lasseter V K; Nestadt G; Kasch L; Babb R; Kazazian H H; Dombroski B
Schizophrenia susceptibility and chromosome 6p24-22.
Nature genetics 1995;11(3):235-6.
1995: Bi L; Lawler A M; Antonarakis S E; High K A; Gearhart J D; Kazazian H H
Targeted disruption of the mouse factor VIII gene produces a model of haemophilia A.
Nature genetics 1995;10(1):119-21.
1995: Lasseter V K; Pulver A E; Wolyniec P S; Nestadt G; Meyers D; Karayiorgou M; Housman D; Antonarakis S; Kazazian H; Kasch L
Follow-up report of potential linkage for schizophrenia on chromosome 22q: Part 3.
American journal of medical genetics 1995;60(2):172-3.
1995: Antonarakis S E; Kazazian H H; Gitschier J; Hutter P; de Moerloose P; Morris M A
Molecular etiology of factor VIII deficiency in hemophilia A.
Advances in experimental medicine and biology 1995;386():19-34.
1995: Antonarakis S E; Kazazian H H; Tuddenham E G
Molecular etiology of factor VIII deficiency in hemophilia A.
Human mutation 1995;5(1):1-22.
1995: Kimberland M L; Boehm C D; Kazazian H H
Two novel beta-thalassemia alleles: poly A signal (AATAAA-->AAAA) and -92 C-->T.
Human mutation 1995;5(3):275-6.
1994: Rossiter J P; Blakemore K J; Kickler T S; Kasch L M; Khouzami A N; Pressman E K; Sciscione A C; Kazazian H H
The use of polymerase chain reaction to determine fetal RhD status.
American journal of obstetrics and gynecology 1994;171(4):1047-51.
1994: Dombroski B A; Feng Q; Mathias S L; Sassaman D M; Scott A F; Kazazian H H; Boeke J D
An in vivo assay for the reverse transcriptase of human retrotransposon L1 in Saccharomyces cerevisiae.
Molecular and cellular biology 1994;14(7):4485-92.
1994: Pulver A E; Karayiorgou M; Wolyniec P S; Lasseter V K; Kasch L; Nestadt G; Antonarakis S; Housman D; Kazazian H H; Meyers D
Sequential strategy to identify a susceptibility gene for schizophrenia: report of potential linkage on chromosome 22q12-q13.1: Part 1.
American journal of medical genetics 1994;54(1):36-43.
1994: Pulver A E; Karayiorgou M; Lasseter V K; Wolyniec P; Kasch L; Antonarakis S; Housman D; Kazazian H H; Meyers D; Nestadt G
Follow-up of a report of a potential linkage for schizophrenia on chromosome 22q12-q13.1: Part 2.
American journal of medical genetics 1994;54(1):44-50.
1994: Garewal G; Fearon C W; Warren T C; Marwaha N; Marwaha R K; Mahadik C; Kazazian H H
The molecular basis of beta thalassaemia in Punjabi and Maharashtran Indians includes a multilocus aetiology involving triplicated alpha-globin loci.
British journal of haematology 1994;86(2):372-6.
1993: Dombroski B A; Scott A F; Kazazian H H
Two additional potential retrotransposons isolated from a human L1 subfamily that contains an active retrotransposable element.
Proceedings of the National Academy of Sciences of the United States of America 1993;90(14):6513-7.
1993: McGinniss M J; Rosenberg C; Stetten G; Schinzel A A; Binkert F; Petersen M B; Kearns W G; Kazazian H H; Pearson P L; Antonarakis S E
Unbalanced translocation, t(18;21), detected by fluorescence in situ hybridization (FISH) in a child with 18q- syndrome and a ring chromosome 21.
American journal of medical genetics 1993;46(6):647-51.
1993: Kazazian H H
The molecular basis of hemophilia A and the present status of carrier and antenatal diagnosis of the disease.
Thrombosis and haemostasis 1993;70(1):60-2.
1993: Migeon B R; McGinniss M J; Antonarakis S E; Axelman J; Stasiowski B A; Youssoufian H; Kearns W G; Chung A; Pearson P L; Kazazian H H
Severe hemophilia A in a female by cryptic translocation: order and orientation of factor VIII within Xq28.
Genomics 1993;16(1):20-5.
1993: McGinniss M J; Kazazian H H; Hoyer L W; Bi L; Inaba H; Antonarakis S E
Spectrum of mutations in CRM-positive and CRM-reduced hemophilia A.
Genomics 1993;15(2):392-8.
1993: Oppenheim A; Oron V; Filon D; Fearon C C; Rachmilewitz E A; Kazazian H H; Rund D
Sporadic alleles, including a novel mutation, characterize beta-thalassemia in Ashkenazi Jews.
Human mutation 1993;2(2):155-7.
1992: Miller M; Boehm C; Cotton M; Kazazian H H
Usefulness of a CACA repeat polymorphism in genotype assignments in Duchenne/Becker muscular dystrophy.
American journal of medical genetics 1992;44(4):473-6.
1992: Economou E P; Kazazian H H; Antonarakis S E
Detection of mutations in the factor VIII gene using single-stranded conformational polymorphism (SSCP).
Genomics 1992;13(3):909-11.
1992: Kazazian H H; Dowling C E; Hurwitz R L; Coleman M; Stopeck A; Adams J G
Dominant thalassemia-like phenotypes associated with mutations in exon 3 of the beta-globin gene.
Blood 1992;79(11):3014-8.
1992: Rund D; Dowling C; Najjar K; Rachmilewitz E A; Kazazian H H; Oppenheim A
Two mutations in the beta-globin polyadenylylation signal reveal extended transcripts and new RNA polyadenylylation sites.
Proceedings of the National Academy of Sciences of the United States of America 1992;89(10):4324-8.
1992: McGinniss M J; Kazazian H H; Stetten G; Petersen M B; Boman H; Engel E; Greenberg F; Hertz J M; Johnson A; Laca Z
Mechanisms of ring chromosome formation in 11 cases of human ring chromosome 21.
American journal of human genetics 1992;50(1):15-28.
1991: Mathias S L; Scott A F; Kazazian H H; Boeke J D; Gabriel A
Reverse transcriptase encoded by a human transposable element.
Science (New York, N.Y.) 1991;254(5039):1808-10.
1991: Dombroski B A; Mathias S L; Nanthakumar E; Scott A F; Kazazian H H
Isolation of an active human transposable element.
Science (New York, N.Y.) 1991;254(5039):1805-8.
1991: Higuchi M; Antonarakis S E; Kasch L; Oldenburg J; Economou-Petersen E; Olek K; Arai M; Inaba H; Kazazian H H
Molecular characterization of mild-to-moderate hemophilia A: detection of the mutation in 25 of 29 patients by denaturing gradient gel electrophoresis.
Proceedings of the National Academy of Sciences of the United States of America 1991;88(19):8307-11.
1991: Economou E P; Antonarakis S E; Dowling C C; Ibarra B; de la Mora E; Kazazian H H
Molecular heterogeneity of beta-thalassemia in mestizo Mexicans.
Genomics 1991;11(2):474.
1991: McGinniss M J; Horisberger M A; Kazazian H H; Antonarakis S E
An MspI polymorphism at the MX1 locus in 21q22.3.
Nucleic acids research 1991;19(19):5451.
1991: Higuchi M; Kazazian H H; Kasch L; Warren T C; McGinniss M J; Phillips J A; Kasper C; Janco R; Antonarakis S E
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.
Proceedings of the National Academy of Sciences of the United States of America 1991;88(16):7405-9.
1991: Kazazian H H
Prenatal diagnosis of beta-thalassemia.
Seminars in perinatology 1991;15(3 Suppl 2):15-24.
1991: Woods-Samuels P; Kazazian H H; Antonarakis S E
Nonhomologous recombination in the human genome: deletions in the human factor VIII gene.
Genomics 1991;10(1):94-101.
1991: Hofman K J; Steel G; Kazazian H H; Valle D
Phenylketonuria in U.S. blacks: molecular analysis of the phenylalanine hydroxylase gene.
American journal of human genetics 1991;48(4):791-8.
1991: Rund D; Cohen T; Filon D; Dowling C E; Warren T C; Barak I; Rachmilewitz E; Kazazian H H; Oppenheim A
Evolution of a genetic disease in an ethnic isolate: beta-thalassemia in the Jews of Kurdistan.
Proceedings of the National Academy of Sciences of the United States of America 1991;88(1):310-4.
1991: Economou E P; Antonarakis S E; Kazazian H H; Serjeant G R; Dover G J
Variation in hemoglobin F production among normal and sickle cell adults is not related to nucleotide substitutions in the gamma promoter regions.
Blood 1991;77(1):174-7.
1990: Cutting G R; Kasch L M; Rosenstein B J; Tsui L C; Kazazian H H; Antonarakis S E
Two patients with cystic fibrosis, nonsense mutations in each cystic fibrosis gene, and mild pulmonary disease.
The New England journal of medicine 1990;323(24):1685-9.
1990: Stetten G; Tuck-Muller C M; Blakemore K J; Wong C; Kazazian H H; Antonarakis S E
Evidence for involvement of a Robertsonian translocation 13 chromosome in formation of a ring chromosome 13.
Molecular biology & medicine 1990;7(6):479-84.
1990: Oppenheim A; Yaari A; Rund D; Rachmilewitz E A; Nathan D; Wong C; Kazazian H H; Miller B
Intrinsic potential for high fetal hemoglobin production in a Druz family with beta-thalassemia is due to an unlinked genetic determinant.
Human genetics 1990;86(2):175-80.
1990: Kazazian H H
The thalassemia syndromes: molecular basis and prenatal diagnosis in 1990.
Seminars in hematology 1990;27(3):209-28.
1990: Cutting G R; Kasch L M; Rosenstein B J; Zielenski J; Tsui L C; Antonarakis S E; Kazazian H H
A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein.
Nature 1990;346(6282):366-9.
1990: Traystman M D; Higuchi M; Kasper C K; Antonarakis S E; Kazazian H H
Use of denaturing gradient gel electrophoresis to detect point mutations in the factor VIII gene.
Genomics 1990;6(2):293-301.
1990: Higuchi M; Wong C; Kochhan L; Olek K; Aronis S; Kasper C K; Kazazian H H; Antonarakis S E
Characterization of mutations in the factor VIII gene by direct sequencing of amplified genomic DNA.
Genomics 1990;6(1):65-71.
1990: Inaba H; Fujimaki M; Kazazian H H; Antonarakis S E
MspI polymorphic site in intron 22 of the factor VIII gene in the Japanese population.
Human genetics 1990;84(2):214-5.
1990: Antonarakis S E; Kazazian H H
The molecular basis of hemophilia A (factor VIII deficiency) in man; progress report from the Johns Hopkins University Hemophilia Project.
Progress in clinical and biological research 1990;324():1-11.
1990: Corson V; Quaid K; Kasch L; Kazazian H H
Prenatal testing for Huntington disease.
Birth defects original article series 1990;26(3):226-30.
1990: Rund D; Filon D; Dowling C; Kazazian H H; Rachmilewitz E A; Oppenheim A
Molecular studies of beta-thalassemia in Israel. Mutational analysis and expression studies.
Annals of the New York Academy of Sciences 1990;612():98-105.
1990: Kazazian H H; Dowling C E; Boehm C D; Warren T C; Economou E P; Katz J; Antonarakis S E
Gene defects in beta-thalassemia and their prenatal diagnosis.
Annals of the New York Academy of Sciences 1990;612():1-14.
1989: Zweig R M; Koven S J; Hedreen J C; Maestri N E; Kazazian H H; Folstein S E
Linkage to the Huntington's disease locus in a family with unusual clinical and pathological features.
Annals of neurology 1989;26(1):78-84.
1989: Brandt J; Quaid K A; Folstein S E; Garber P; Maestri N E; Abbott M H; Slavney P R; Franz M L; Kasch L; Kazazian H H
Presymptomatic diagnosis of delayed-onset disease with linked DNA markers. The experience in Huntington's disease.
JAMA : the journal of the American Medical Association 1989;261(21):3108-14.
1989: Woods-Samuels P; Wong C; Mathias S L; Scott A F; Kazazian H H; Antonarakis S E
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.
Genomics 1989;4(3):290-6.
1989: Wong C; Antonarakis S E; Goff S C; Orkin S H; Forget B G; Nathan D G; Giardina P J; Kazazian H H
Beta-thalassemia due to two novel nucleotide substitutions in consensus acceptor splice sequences of the beta-globin gene.
Blood 1989;73(4):914-8.
1989: Wong C; Kazazian H H; Stetten G; Earnshaw W C; Van Keuren M L; Antonarakis S E
Molecular mechanism in the formation of a human ring chromosome 21.
Proceedings of the National Academy of Sciences of the United States of America 1989;86(6):1914-8.
1989: Semenza G L; Dowling C E; Kazazian H H
Hinf I polymorphism 3' to the human beta-globin gene detected by the polymerase chain reaction (PCR).
Nucleic acids research 1989;17(6):2376.
1989: Cutting G R; Antonarakis S E; Buetow K H; Kasch L M; Rosenstein B J; Kazazian H H
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.
American journal of human genetics 1989;44(3):307-18.
1989: Inaba H; Fujimaki M; Kazazian H H; Antonarakis S E
Mild hemophilia A resulting from Arg-to-Leu substitution in exon 26 of the factor VIII gene.
Human genetics 1989;81(4):335-8.
1989: Safaya S; Rieder R F; Dowling C E; Kazazian H H; Adams J G
Homozygous beta-thalassemia without anemia.
Blood 1989;73(1):324-8.
1989: Kazazian H H; Phillips D G; Dowling C E; Boehm C D
Prenatal diagnosis of sickle cell anemia--1988.
Annals of the New York Academy of Sciences 1989;565():44-7.
1988: Cutting G R; Antonarakis S E; Youssoufian H; Kazazian H H
Accuracy and limitations of pulsed field gel electrophoresis in sizing partial deletions of the factor VIII gene.
Molecular biology & medicine 1988;5(3):173-84.
1988: Cutting G R; Kazazian H H; Antonarakis S E; Killen P D; Yamada Y; Francomano C A
Macrorestriction mapping of COL4A1 and COL4A2 collagen genes on human chromosome 13q34.
Genomics 1988;3(3):256-63.
1988: Youssoufian H; Kasper C K; Phillips D G; Kazazian H H; Antonarakis S E
Restriction endonuclease mapping of six novel deletions of the factor VIII gene in hemophilia A.
Human genetics 1988;80(2):143-8.
1988: Kazazian H H; Boehm C D
Molecular basis and prenatal diagnosis of beta-thalassemia.
Blood 1988;72(4):1107-16.
1988: Saiki R K; Chang C A; Levenson C H; Warren T C; Boehm C D; Kazazian H H; Erlich H A
Diagnosis of sickle cell anemia and beta-thalassemia with enzymatically amplified DNA and nonradioactive allele-specific oligonucleotide probes.
The New England journal of medicine 1988;319(9):537-41.
1988: Youssoufian H; Wong C; Aronis S; Platokoukis H; Kazazian H H; Antonarakis S E
Moderately severe hemophilia A resulting from Glu----Gly substitution in exon 7 of the factor VIII gene.
American journal of human genetics 1988;42(6):867-71.
1988: Youssoufian H; Antonarakis S E; Bell W; Griffin A M; Kazazian H H
Nonsense and missense mutations in hemophilia A: estimate of the relative mutation rate at CG dinucleotides.
American journal of human genetics 1988;42(5):718-25.
1988: Kazazian H H; Wong C; Youssoufian H; Scott A F; Phillips D G; Antonarakis S E
Haemophilia A resulting from de novo insertion of L1 sequences represents a novel mechanism for mutation in man.
Nature 1988;332(6160):164-6.
1988: Youssoufian H; Kazazian H H; Patel A; Aronis S; Tsiftis G; Hoyer L W; Antonarakis S E
Mild hemophilia A associated with a cryptic donor splice site mutation in intron 4 of the factor VIII gene.
Genomics 1988;2(1):32-6.
1988: Huang S; Waber P G; Dowling C E; Wong C; Antonarakis S E; Cai R L; Wang M Q; Lo W H; Kazazian H H
Beta-thalassemia in China: a systematic molecular characterization of beta-thalassemia mutations.
Hemoglobin 1988;12(5-6):621-8.
1987: Wong C; Dowling C E; Saiki R K; Higuchi R G; Erlich H A; Kazazian H H
Characterization of beta-thalassaemia mutations using direct genomic sequencing of amplified single copy DNA.
Nature 1987;330(6146):384-6.
1987: Youssoufian H; Phillips D G; Kazazian H H; Antonarakis S E
MspI polymorphism in the 3' flanking region of the human factor VIII gene.
Nucleic acids research 1987;15(15):6312.
1987: Youssoufian H; Antonarakis S E; Aronis S; Tsiftis G; Phillips D G; Kazazian H H
Characterization of five partial deletions of the factor VIII gene.
Proceedings of the National Academy of Sciences of the United States of America 1987;84(11):3772-6.
1987: Kazazian H H; Dowling C E; Waber P G; Huang S Z; Lo W H; Li A; Tam J W; Kang J; Antonarakis S E
Molecular characterization of beta-thalassemia major and beta-thalassemia intermedia in China and Southeast Asia.
Progress in clinical and biological research 1987;251():401-12.
1987: Kazazian H H
Globin gene structure and the nature of mutation.
Birth defects original article series 1987;23(3):77-92.
1986: Youssoufian H; Kazazian H H; Phillips D G; Aronis S; Tsiftis G; Brown V A; Antonarakis S E
Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots.
Nature 1986;324(6095):380-2.
1986: Kazazian H H; Dowling C E; Waber P G; Huang S; Lo W H
The spectrum of beta-thalassemia genes in China and Southeast Asia.
Blood 1986;68(4):964-6.
1986: Wong C; Antonarakis S E; Goff S C; Orkin S H; Boehm C D; Kazazian H H
On the origin and spread of beta-thalassemia: recurrent observation of four mutations in different ethnic groups.
Proceedings of the National Academy of Sciences of the United States of America 1986;83(17):6529-32.
1986: Kazazian H H; Orkin S H; Boehm C D; Goff S C; Wong C; Dowling C E; Newburger P E; Knowlton R G; Brown V; Donis-Keller H
Characterization of a spontaneous mutation to a beta-thalassemia allele.
American journal of human genetics 1986;38(6):860-7.
1986: Boehm C D; Dowling C E; Waber P G; Giardina P J; Kazazian H H
Use of oligonucleotide hybridization in the characterization of a beta zero-thalassemia gene (beta 37 TGG----TGA) in a Saudi Arabian family.
Blood 1986;67(4):1185-8.
1986: Kazazian H H; Antonarakis S E; Youssoufian H; Dowling C E; Phillips D G; Wong C; Boehm C D
Comparison of deficiency alleles of the beta-globin and factor VIII:C genes: new lessons from a giant gene.
Cold Spring Harbor symposia on quantitative biology 1986;51 Pt 1():371-9.
1985: Huang S Z; Kazazian H H; Waber P G; Luo H Y; Cai R L; Wang M Q
Beta-thalassemia in Chinese--analysis of polymorphic restriction site haplotypes in the beta-globin gene cluster.
Chinese medical journal 1985;98(12):881-6.
1985: Folstein S E; Phillips J A; Meyers D A; Chase G A; Abbott M H; Franz M L; Waber P G; Kazazian H H; Conneally P M; Hobbs W
Huntington's disease: two families with differing clinical features show linkage to the G8 probe.
Science (New York, N.Y.) 1985;229(4715):776-9.
1985: Boehm C D; Dowling C E; Antonarakis S E; Honig G R; Kazazian H H
Evidence supporting a single origin of the beta(C)-globin gene in blacks.
American journal of human genetics 1985;37(4):771-7.
1985: Kazazian H H; Boehm C D; Dowling C E
Prenatal diagnosis of hemoglobinopathies by DNA analysis.
Annals of the New York Academy of Sciences 1985;445():337-48.
1984: Collins F S; Boehm C D; Waber P G; Stoeckert C J; Weissman S M; Forget B G; Kazazian H H
Concordance of a point mutation 5' to the G gamma globin gene with G gamma beta +. Hereditary persistence of fetal hemoglobin in the black population.
Blood 1984;64(6):1292-6.
1984: Chakravarti A; Buetow K H; Antonarakis S E; Waber P G; Boehm C D; Kazazian H H
Nonuniform recombination within the human beta-globin gene cluster.
American journal of human genetics 1984;36(6):1239-58.
1984: Cheng T C; Orkin S H; Antonarakis S E; Potter M J; Sexton J P; Markham A F; Giardina P J; Li A; Kazazian H H
beta-Thalassemia in Chinese: use of in vivo RNA analysis and oligonucleotide hybridization in systematic characterization of molecular defects.
Proceedings of the National Academy of Sciences of the United States of America 1984;81(9):2821-5.
1984: Kazazian H H; Orkin S H; Antonarakis S E; Sexton J P; Boehm C D; Goff S C; Waber P G
Molecular characterization of seven beta-thalassemia mutations in Asian Indians.
The EMBO journal 1984;3(3):593-6.
1984: Kazazian H H; Waber P G; Boehm C D; Lee J I; Antonarakis S E; Fairbanks V F
Hemoglobin E in Europeans: further evidence for multiple origins of the beta E-globin gene.
American journal of human genetics 1984;36(1):212-7.
1983: Antonarakis S E; Phillips J A; Mallonee R L; Kazazian H H; Fearon E R; Waber P G; Kronenberg H M; Ullrich A; Meyers D A
Beta-globin locus is linked to the parathyroid hormone (PTH) locus and lies between the insulin and PTH loci in man.
Proceedings of the National Academy of Sciences of the United States of America 1983;80(21):6615-9.
1983: Orkin S H; Sexton J P; Cheng T C; Goff S C; Giardina P J; Lee J I; Kazazian H H
ATA box transcription mutation in beta-thalassemia.
Nucleic acids research 1983;11(14):4727-34.
1983: Fearon E R; Kazazian H H; Waber P G; Lee J I; Antonarakis S E; Orkin S H; Vanin E F; Henthorn P S; Grosveld F G; Scott A F; Buchanan G R
The entire beta-globin gene cluster is deleted in a form of gamma delta beta-thalassemia.
Blood 1983;61(6):1269-74.
1983: Orkin S H; Sexton J P; Goff S C; Kazazian H H
Inactivation of an acceptor RNA splice site by a short deletion in beta-thalassemia.
The Journal of biological chemistry 1983;258(12):7249-51.
1983: Kazazian H H; Antonarakis S E; Cheng T; Boehm C D; Waber P G
Use of haplotype analysis in the beta-globin gene cluster to discover beta-thalassemia mutations.
Progress in clinical and biological research 1983;134():91-8.
1982: Orkin S H; Kazazian H H; Antonarakis S E; Ostrer H; Goff S C; Sexton J P
Abnormal RNA processing due to the exon mutation of beta E-globin gene.
Nature 1982;300(5894):768-9.
1982: Antonarakis S E; Orkin S H; Kazazian H H; Goff S C; Boehm C D; Waber P G; Sexton J P; Ostrer H; Fairbanks V F; Chakravarti A
Evidence for multiple origins of the beta E-globin gene in Southeast Asia.
Proceedings of the National Academy of Sciences of the United States of America 1982;79(21):6608-11.
1982: Orkin S H; Kazazian H H; Antonarakis S E; Goff S C; Boehm C D; Sexton J P; Waber P G; Giardina P J
Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster.
Nature 1982;296(5858):627-31.
1982: Antonarakis S E; Boehm C D; Giardina P J; Kazazian H H
Nonrandom association of polymorphic restriction sites in the beta-globin gene cluster.
Proceedings of the National Academy of Sciences of the United States of America 1982;79(1):137-41.

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