Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations.

No abstract is available for this paper.

• Publication year

  1998

• Venue

  American Journal of Human Genetics

• Publication date

  Unknown publication date

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1086/301673PMID 9443866PMCID PMC1376800
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Ataxia-Telangiectasia

  2020cited by this paper
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  1997cited by this paper
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  1997cited by this paper
• Ataxia-telangiectasia locus: sequence analysis of 184 kb of human genomic DNA containing the entire ATM gene.

  1997cited by this paper
• Clustering of missense mutations in the ataxia-telanglectasia gene in a sporadic T-cell leukaemia

  1997cited by this paper
• A high frequency of distinct ATM gene mutations in ataxia-telangiectasia.

  1996influential reference
• Predominance of null mutations in ataxia-telangiectasia.

  1996influential reference
• Ataxia-telangiectasia: mutations in ATM cDNA detected by protein-truncation screening.

  1996cited by this paper
• ATM mutations in cancer families.

  1996cited by this paper
• Mutations revealed by sequencing the 5' half of the gene for ataxia telangiectasia.

  1996influential reference
• New mutations in the ataxia telangiectasia gene

  1996influential reference
• Analysis of the ATM protein in wild-type and ataxia telangiectasia cells.

  1996cited by this paper
• Exon-Scanning Mutation Analysis of the ATM Gene in Patients with Ataxia-Telangiectasia

  1996influential reference
• Ataxia-telangiectasia: founder effect among north African Jews.

  1996influential reference
• Molecular genotyping shows that ataxia-telangiectasia heterozygotes are predisposed to breast cancer.

  1996cited by this paper
• Mutations associated with variant phenotypes in ataxia-telangiectasia.

  1996influential reference
• Update on nomenclature for human gene mutations. Ad Hoc Committee on Mutation Nomenclature.

  1996cited by this paper
• A SINGLE ATAXIA TELANGIECTASIA GENE WITH A PRODUCT SIMILAR TO PI-3 KINASE

  1996influential reference
• The complete sequence of the coding region of the ATM gene reveals similarity to cell cycle regulators in different species.

  1995influential reference
• A single ataxia telangiectasia gene with a product similar to PI-3 kinase.

  1995cited by this paper
• Localization of an ataxia-telangiectasia gene to an approximately 500-kb interval on chromosome 11q23.1: linkage analysis of 176 families by an international consortium.

  1995cited by this paper
• Genomic organization of the ATM locus involved in ataxia-telangiectasia.

  1995cited by this paper
• Restriction endonuclease fingerprinting (REF): a sensitive method for screening mutations in long, contiguous segments of DNA.

  1995cited by this paper
• Sublocalization of an ataxia-telangiectasia gene distal to D11S384 by ancestral haplotyping in Costa Rican families.

  1995influential reference
• A high-density microsatellite map of the ataxia-telangiectasia locus

  1995cited by this paper
• Ataxia-telangiectasia.

  1995cited by this paper
• Genetic haplotyping of ataxia-telangiectasia families localizes the major gene to an approximately 850 kb region on chromosome 11q23.1.

  1994cited by this paper
• Clinical and Genetic Features of Ataxia-telangiectasia.

  1994cited by this paper
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  1994cited by this paper
• A haplotype common to intermediate radiosensitivity variants of ataxia-telangiectasia in the UK.

  1994cited by this paper
• Cancer risks in A-T heterozygotes.

  1994cited by this paper
• Clinical and genetic features of ataxia-telangiectasia.

  1994cited by this paper
• A Haplotype Common to Intermediate Radiosensitivity Variants of Ataxia-telangiectasia in the UK.

  1994influential reference
• Cancer risks in A-T heterozygotes.

  1994cited by this paper
• Genetic Haplotyping of Ataxia-telangiectasia Families Localizes the Major Gene to an ∼ 850 kb Region on Chromosome 11q23.1.

  1994cited by this paper
• Ataxia telangiectasia in the British Isles: the clinical and laboratory features of 70 affected individuals.

  1992cited by this paper
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  1991influential reference
• Hereditary neuropathies and spinocerebellar atrophies

  1991cited by this paper
• Incidence of cancer in 161 families affected by ataxia-telangiectasia.

  1991cited by this paper
• Centre d'etude du polymorphisme humain (CEPH): collaborative genetic mapping of the human genome.

  1990cited by this paper
• Breast cancer and other cancers in Norwegian families with ataxia‐telangiectasia

  1990cited by this paper
• ATFresno: a phenotype linking ataxia-telangiectasia with the Nijmegen breakage syndrome.

  1989cited by this paper
• Localization of an ataxia-telangiectasia gene to chromosome 11q22–23

  1988influential reference
• Cancer in homozygotes and heterozygotes of ataxia-telangiectasia and xeroderma pigmentosum in Britain.

  1988cited by this paper
• Ataxia-telangiectasia: Genetics, neuropathology, and immunology of a degenerative disease of childhood.

  1987cited by this paper
• Breast and other cancers in families with ataxia-telangiectasia.

  1987cited by this paper
• The incidence and gene frequency of ataxia-telangiectasia in the United States.

  1986cited by this paper
• Ataxia-telangiectasia: an overview.

  1985cited by this paper
• Ataxia-telangiectasia; a familial syndrome of progressive cerebellar ataxia, oculocutaneous telangiectasia and frequent pulmonary infection.

  1958cited by this paper
• Update on nomenclature for human gene mutations

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  2024cites this paper
• Management of individuals with heterozygous germline pathogenic variants in ATM: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).

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• Pathogenic ATM Mutations in Cancer and a Genetic Basis for Radiotherapeutic Efficacy.

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