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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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In vitro screening for compounds that enhance human L1 mobilization

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

2013

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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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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)

Identification of Sequence Variants and Analysis of the Role of the Catechol- O-Methyl-Transferase Gene in Schizophrenia Susceptibility

Biological psychiatry (1969), 1998-03, Vol.43 (6), p.425-431

1998

Volltextzugriff (PDF)

Haemophilia A resulting from de novo insertion of L1 sequences represents a novel mechanism for mutation in man

Nature (London), 1988-03, Vol.332 (6160), p.164-166

1988

Volltextzugriff (PDF)

Human L1 retrotransposition: cis preference versus trans complementation

Molecular and cellular biology, 2001-02, Vol.21 (4), p.1429-1439

2001

Volltextzugriff (PDF)

Characterization of β-thalassaemia mutations using direct genomic sequencing of amplified single copy DNA

Nature (London), 1987-11, Vol.330 (6146), p.384-386

1987

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)

Two Patients with Cystic Fibrosis, Nonsense Mutations in Each Cystic Fibrosis Gene, and Mild Pulmonary Disease

The New England journal of medicine, 1990-12, Vol.323 (24), p.1685-1689

1990

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

Volltextzugriff (PDF)

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)

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

Nature (London), 1982-12, Vol.300 (5894), p.768-769

1982

Volltextzugriff (PDF)

Improved detection of the sickle mutation by DNA analysis: application to prenatal diagnosis

The New England journal of medicine, 1982-07, Vol.307 (1), p.32

1982

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)

Quantification of the close association between DNA haplotypes and specific β -thalassaemia mutations in Mediterraneans

Nature (London), 1984-07, Vol.310 (5973), p.152-154

1984

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)

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 - PNAS, 1991-08, Vol.88 (16), p.7405-7409

1991

Volltextzugriff (PDF)

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

Blood, 1990-01, Vol.75 (2), p.384-389

1990

Volltextzugriff (PDF)

Evolution of a Genetic Disease in an Ethnic Isolate: β-Thalassemia in the Jews of Kurdistan

Proceedings of the National Academy of Sciences - PNAS, 1991-01, Vol.88 (1), p.310-314

1991

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)

Dominant Thalassemia-like Phenotypes Associated With Mutations in Exon 3 of the β-Globin Gene

Blood, 1992-06, Vol.79 (11), p.3014-3018

1992

Volltextzugriff (PDF)

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

In vitro screening for compounds that enhance human L1 mobilization

Reading LINEs within the cocaine addicted brain

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

Identification of Sequence Variants and Analysis of the Role of the Catechol- O-Methyl-Transferase Gene in Schizophrenia Susceptibility

Haemophilia A resulting from de novo insertion of L1 sequences represents a novel mechanism for mutation in man

Human L1 retrotransposition: cis preference versus trans complementation

Characterization of β-thalassaemia mutations using direct genomic sequencing of amplified single copy DNA

Correlation between Factor VIII Genotype and Inhibitor Development in Hemophilia A

Two Patients with Cystic Fibrosis, Nonsense Mutations in Each Cystic Fibrosis Gene, and Mild Pulmonary Disease

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

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

Improved detection of the sickle mutation by DNA analysis: application to prenatal diagnosis

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

Quantification of the close association between DNA haplotypes and specific β -thalassaemia mutations in Mediterraneans

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

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

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

Evolution of a Genetic Disease in an Ethnic Isolate: β-Thalassemia in the Jews of Kurdistan

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

Dominant Thalassemia-like Phenotypes Associated With Mutations in Exon 3 of the β-Globin Gene

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