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Aicardi-Goutières syndrome protein TREX1 suppresses L1 and maintains genome integrity through exonuclease-independent ORF1p depletion

Nucleic acids research, 2017-05, Vol.45 (8), p.4619

2017

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Somatically Acquired LINE-1 Insertions in Normal Esophagus Undergo Clonal Expansion in Esophageal Squamous Cell Carcinoma

Human mutation, 2016-09, Vol.37 (9), p.942-954

2016

Volltextzugriff (PDF)

25 Years of Human Mutation

Human mutation, 2016-06, Vol.37 (6), p.503-504

2016

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In vitro screening for compounds that enhance human L1 mobilization

PloS one, 2013-09, Vol.8 (9), p.e74629

2013

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In Memoriam: Richard G.H. Cotton (1940-2015)

Human mutation, 2015-08, Vol.36 (8), p.741-742

2015

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A mouse model of human L1 retrotransposition

Nature genetics, 2002-12, Vol.32 (4), p.655-660

2002

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Reading LINEs within the cocaine addicted brain

Brain and behavior, 2017-05, Vol.7 (5), p.e00678-n/a

2017

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An estimated frequency of endogenous insertional mutations in humans

Nature genetics, 1999-06, Vol.22 (2), p.130-130

Kazazian, Haig H

1999

Volltextzugriff (PDF)

Allan Award Lecture: On Jumping Fields and “Jumping Genes”

American journal of human genetics, 2009-02, Vol.84 (2), p.105-114

Kazazian, Haig H.

2009

Volltextzugriff (PDF)

Rapid amplification of a retrotransposon subfamily is evolving the mouse genome

Nature genetics, 1998-11, Vol.20 (3), p.288-290

1998

Volltextzugriff (PDF)

A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein

Nature (London), 1990-07, Vol.346 (6282), p.366-369

1990

Volltextzugriff (PDF)

Correlation between Factor VIII Genotype and Inhibitor Development in Hemophilia A

Seminars in thrombosis and hemostasis, 2000, Vol.26 (2), p.167-172

2000

Volltextzugriff (PDF)

Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots

Nature (London), 1986-11, Vol.324 (6095), p.380-382

1986

Volltextzugriff (PDF)

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

Nature (London), 1982-04, Vol.296 (5858), p.627-631

1982

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

The New England journal of medicine, 1985-10, Vol.313 (14), p.842

1985

Volltextzugriff (PDF)

DNA polymorphism and molecular pathology of the human globin gene clusters

Human genetics, 1985, Vol.69 (1), p.1-14

1985

Volltextzugriff (PDF)

Phylogeny of human β-globin haplotypes and its implications for recent human evolution

American journal of physical anthropology, 1990-01, Vol.81 (1), p.113-130

1990

Volltextzugriff (PDF)

The thalassemia syndromes : molecular basis and prenatal diagnosis in 1990

Seminars in hematology, 1990-07, Vol.27 (3), p.209-228

KAZAZIAN, H. H

1990

Volltextzugriff (PDF)

Molecular Basis and Prenatal Diagnosis of β-Thalassemia

Blood, 1988-10, Vol.72 (4), p.1107-1116

1988

Volltextzugriff (PDF)

The molecular basis for cross-reacting material-positive hemophilia A due to missense mutations within the A2-domain of factor VIII

Blood, 1998-01, Vol.91 (2), p.538-548

1998

Volltextzugriff (PDF)

Frequency and stability of the fragile X premutation

Human molecular genetics, 1994-03, Vol.3 (3), p.393-398

1994

Volltextzugriff (PDF)

The molecular basis of β thalassaemia in Punjabi and Maharashtran Indians includes a multilocus aetiology involving triplicated α‐globin loci

British journal of haematology, 1994-02, Vol.86 (2), p.372-376

1994

Volltextzugriff (PDF)

Hemophilia A Due to Mutations that Create New N-Glycosylation Sites

Proceedings of the National Academy of Sciences - PNAS, 1992-06, Vol.89 (11), p.4933-4937

1992

Volltextzugriff (PDF)

Origin of the βS-globin Gene in Blacks: The Contribution of Recurrent Mutation or Gene Conversion or Both

Proceedings of the National Academy of Sciences - PNAS, 1984-02, Vol.81 (3), p.853-856

1984

Volltextzugriff (PDF)

The haemophilia A mutation search test and resource site, home page of the factor VIII mutation database: HAMSTeRS

Nucleic acids research, 1996-01, Vol.24 (1), p.100

1996

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Aicardi-Goutières syndrome protein TREX1 suppresses L1 and maintains genome integrity through exonuclease-independent ORF1p depletion

Somatically Acquired LINE-1 Insertions in Normal Esophagus Undergo Clonal Expansion in Esophageal Squamous Cell Carcinoma

25 Years of Human Mutation

In vitro screening for compounds that enhance human L1 mobilization

In Memoriam: Richard G.H. Cotton (1940-2015)

A mouse model of human L1 retrotransposition

Reading LINEs within the cocaine addicted brain

An estimated frequency of endogenous insertional mutations in humans

Allan Award Lecture: On Jumping Fields and “Jumping Genes”

Rapid amplification of a retrotransposon subfamily is evolving the mouse genome

A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein

Correlation between Factor VIII Genotype and Inhibitor Development in Hemophilia A

Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots

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

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

DNA polymorphism and molecular pathology of the human globin gene clusters

Phylogeny of human β-globin haplotypes and its implications for recent human evolution

The thalassemia syndromes : molecular basis and prenatal diagnosis in 1990

Molecular Basis and Prenatal Diagnosis of β-Thalassemia

The molecular basis for cross-reacting material-positive hemophilia A due to missense mutations within the A2-domain of factor VIII

Frequency and stability of the fragile X premutation

The molecular basis of β thalassaemia in Punjabi and Maharashtran Indians includes a multilocus aetiology involving triplicated α‐globin loci

Hemophilia A Due to Mutations that Create New N-Glycosylation Sites

Origin of the βS-globin Gene in Blacks: The Contribution of Recurrent Mutation or Gene Conversion or Both

The haemophilia A mutation search test and resource site, home page of the factor VIII mutation database: HAMSTeRS

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