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A mouse model of human L1 retrotransposition

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

2002

Volltextzugriff (PDF)

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)

Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A

Nature genetics, 1993-11, Vol.5 (3), p.236-241

1993

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)

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)

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)

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)

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)

Frequency and stability of the fragile X premutation

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

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)

Diversity of β-globin mutations in Israeli ethnic groups reflects recent historic events

American journal of human genetics, 1994-05, Vol.54 (5), p.836-843

1994

Volltextzugriff (PDF)

Gene Defects in β-Thalassemia and Their Prenatal Diagnosis

Annals of the New York Academy of Sciences, 1990-12, Vol.612 (1), p.1-14

1990

Volltextzugriff (PDF)

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A mouse model of human L1 retrotransposition

An estimated frequency of endogenous insertional mutations in humans

Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A

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

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

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

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

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

Frequency and stability of the fragile X premutation

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

Diversity of β-globin mutations in Israeli ethnic groups reflects recent historic events

Gene Defects in β-Thalassemia and Their Prenatal Diagnosis

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