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Discrete subcellular partitioning of human retrotransposon RNAs despite a common mechanism of genome insertion

Human molecular genetics, 2010-05, Vol.19 (9), p.1712-1725

2010

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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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An estimated frequency of endogenous insertional mutations in humans

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

Kazazian, Haig H

1999

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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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Rapid amplification of a retrotransposon subfamily is evolving the mouse genome

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

1998

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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

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

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

1982

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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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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

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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

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Molecular Basis and Prenatal Diagnosis of β-Thalassemia

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

1988

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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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Frequency and stability of the fragile X premutation

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

1994

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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

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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

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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

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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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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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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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Chinese Aγ Fetal Hemoglobin: C to T Substitution at Position — 196 of the Aγ Gene Promoter

Blood, 1986-06, Vol.67 (6), p.1777-1779

1986

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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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A novel mutation in the invariant AG of the acceptor splice site of intron 4 of the β-hexosaminidase α-subunit gene in two unrelated American black GM2-gangliosidosis (tay-sachs disease) patients

American journal of human genetics, 1991-06, Vol.48 (6), p.1181-1185

1991

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Discrete subcellular partitioning of human retrotransposon RNAs despite a common mechanism of genome insertion

A mouse model of human L1 retrotransposition

An estimated frequency of endogenous insertional mutations in humans

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

Rapid amplification of a retrotransposon subfamily is evolving the mouse genome

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

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

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

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

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

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

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

Chinese Aγ Fetal Hemoglobin: C to T Substitution at Position — 196 of the Aγ Gene Promoter

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

A novel mutation in the invariant AG of the acceptor splice site of intron 4 of the β-hexosaminidase α-subunit gene in two unrelated American black GM2-gangliosidosis (tay-sachs disease) patients

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