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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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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

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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

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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

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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

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Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots

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

1986

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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.842-848

1985

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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.32-36

1982

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DNA polymorphism and molecular pathology of the human globin gene clusters

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

1985

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Spectrum of Mutations in CRM-Positive and CRM-Reduced Hemophilia A

Genomics (San Diego, Calif.), 1993-02, Vol.15 (2), p.392-398

1993

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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

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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

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Two Mutations in the β-Globin Polyadenylylation Signal Reveal Extended Transcripts and New RNA Polyadenylylation Sites

Proceedings of the National Academy of Sciences - PNAS, 1992-05, Vol.89 (10), p.4324-4328

1992

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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

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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

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β -thalassemia in American Blacks: Novel Mutations in the ``TATA'' Box and an Acceptor Splice Site

Proceedings of the National Academy of Sciences - PNAS, 1984-02, Vol.81 (4), p.1154-1158

1984

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

Genomics (San Diego, Calif.), 1990-02, Vol.6 (2), p.293-301

1990

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β -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 - PNAS, 1984-05, Vol.81 (9), p.2821-2825

1984

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Phenylketonuria in U.S. blacks : molecular analysis of the phenylalanine hydroxylase gene

American journal of human genetics, 1991-04, Vol.48 (4), p.791-798

1991

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

Genomics (San Diego, Calif.), 1992-07, Vol.13 (3), p.909-911

1992

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Prenatal diagnosis of beta-thalassemia

Seminars in perinatology, 1991-06, Vol.15 (3 Suppl 2), p.15-24

Kazazian, Jr, H H

1991

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Isolation and characterization of the translation product of a β‐globin gene nonsense mutation (β121 GAA→TAA)

British journal of haematology, 1990-08, Vol.75 (4), p.561-567

1990

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Brief Report: Hemoglobin Bart's Disease in an Italian Boy: Interaction between [alpha]-Thalassemia and Hereditary Persistence of Fetal Hemoglobin

The New England journal of medicine, 1990-07, Vol.323 (3), p.179

1990

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Brief Report: 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

1990

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In vitro screening for compounds that enhance human L1 mobilization

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

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

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

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

DNA polymorphism and molecular pathology of the human globin gene clusters

Spectrum of Mutations in CRM-Positive and CRM-Reduced Hemophilia A

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

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

Two Mutations in the β-Globin Polyadenylylation Signal Reveal Extended Transcripts and New RNA Polyadenylylation Sites

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

β -thalassemia in American Blacks: Novel Mutations in the ``TATA'' Box and an Acceptor Splice Site

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

β -thalassemia in Chinese: Use of in vivo RNA Analysis and Oligonucleotide Hybridization in Systematic Characterization of Molecular Defects

Phenylketonuria in U.S. blacks : molecular analysis of the phenylalanine hydroxylase gene

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

Prenatal diagnosis of beta-thalassemia

Isolation and characterization of the translation product of a β‐globin gene nonsense mutation (β121 GAA→TAA)

Brief Report: Hemoglobin Bart's Disease in an Italian Boy: Interaction between [alpha]-Thalassemia and Hereditary Persistence of Fetal Hemoglobin

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

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