(Q37301654)

19 August 2017

1 reference

title

Clinical radiation sensitivity with DNA repair disorders: an overview (English)

1 reference

19 August 2017

Julianne M Pollard

1

1 reference

PMCID

2725446

19 August 2017

Richard A Gatti

series ordinal

2

1 reference

PMCID

2725446

19 August 2017

language of work or name

English

0 references

publication date

1 August 2009

1 reference

International Journal of Radiation Oncology Biology Physics

19 August 2017

1 reference

19 August 2017

74

1 reference

19 August 2017

1323-1331

1 reference

19 August 2017

5

1 reference

Rapid flow cytometry-based structural maintenance of chromosomes 1 (SMC1) phosphorylation assay for identification of ataxia-telangiectasia homozygotes and heterozygotes

19 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725446

The Fanconi anemia pathway and ubiquitin

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725446

ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725446

Successful bone marrow transplantation in a patient with DNA ligase IV deficiency and bone marrow failure

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725446

Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725446

The role of double-strand break repair — insights from human genetics

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725446

A new type of radiosensitive T-B-NK+ severe combined immunodeficiency caused by a LIG4 mutation.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725446

A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725446

Molecular basis of ataxia telangiectasia and related diseases

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725446

The two edges of the ATM sword: co-operation between repair and checkpoint functions

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725446

An overview of three new disorders associated with genetic instability: LIG4 syndrome, RS-SCID and ATR-Seckel syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725446

Ataxia-telangiectasia, an evolving phenotype

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725446

Radiation-hypersensitive cancer patients do not manifest protein expression abnormalities in components of the nonhomologous end-joining (NHEJ) pathway

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725446

DNA damage activates ATM through intermolecular autophosphorylation and dimer dissociation

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725446

Hodgkin disease in ataxia-telangiectasia patients with poor outcomes

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725446

Early diagnosis of ataxia-telangiectasia using radiosensitivity testing

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725446

Squamous cell carcinoma of the tongue in a patient with Fanconi's anemia: a case report and review of the literature

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725446

Chemo- and radiosensitivity testing in a patient with ataxia telangiectasia and Hodgkin disease.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725446

DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725446

The inherited basis of human radiosensitivity

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725446

Distinct functional domains of nibrin mediate Mre11 binding, focus formation, and nuclear localization

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725446

Fanconi anaemia group A (FANCA) mutations in Israeli non-Ashkenazi Jewish patients.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725446

DNA ligase IV deficiency in mice leads to defective neurogenesis and embryonic lethality via the p53 pathway

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725446

The ATM gene and breast cancer: is it really a risk factor?

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725446

Identification of a defect in DNA ligase IV in a radiosensitive leukaemia patient

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725446

Fine localization of the Nijmegen breakage syndrome gene to 8q21: evidence for a common founder haplotype

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725446

The hMre11/hRad50 protein complex and Nijmegen breakage syndrome: linkage of double-strand break repair to the cellular DNA damage response

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725446

Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725446

The complete sequence of the coding region of the ATM gene reveals similarity to cell cycle regulators in different species

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725446

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725446

Familial thrombocytopenia associated with platelet autoantibodies and chromosome breakage

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725446

The incidence and gene frequency of ataxia-telangiectasia in the United States

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725446

Localization of an ataxia-telangiectasia gene to chromosome 11q22-23.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725446

Fanconi's anaemia and post-cricoid carcinoma

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725446

Fanconi's anemia and clinical radiosensitivity report on two adult patients with locally advanced solid tumors treated by radiotherapy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725446

Head and neck carcinoma in Fanconi's anaemia--report of a case and review of the literature.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725446

History of head and neck radiology: past, present, and future

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725446

An instance of clinical radiation morbidity and cellular radiosensitivity, not associated with ataxia-telangiectasia

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725446

The effects of radiation therapy for Hodgkin's disease in a child with ataxia telangiectasia: a clinical, biological and pathologic study

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725446

Severe combined immunodeficiency and microcephaly in siblings with hypomorphic mutations in DNA ligase IV.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725446

Medulloblastoma with adverse reaction to radiation therapy in nijmegen breakage syndrome

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725446

Radiosensitivity of ataxia-telangiectasia, X-linked agammaglobulinemia, and related syndromes using a modified colony survival assay.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725446

The life of Wilhelm Conrad Roentgen.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725446

Hypersensitivity to ionizing radiation, in vitro, in a new chromosomal breakage disorder, the Nijmegen Breakage Syndrome.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725446

Ataxia-telangiectasia and Hodgkin's disease.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725446

Leukoencephalopathy after prophylactic radiation for leukaemia in ataxia telangiectasia

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725446

Increased incidence of solid malignant tumors after bone marrow transplantation for severe aplastic anemia

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725446

Radiosensitivity in ataxia-telangiectasia

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725446

Guido Fanconi (1892-1979): a jack of all trades.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725446

A severe form of human combined immunodeficiency due to mutations in DNA ligase IV.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725446

A patient with mutations in DNA Ligase IV: clinical features and overlap with Nijmegen breakage syndrome.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725446

Vulvar cancer in a patient with Fanconi's anemia, treated with 3D conformal radiotherapy

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725446

Ataxia-telangiectasia; a familial syndrome of progressive cerebellar ataxia, oculocutaneous telangiectasia and frequent pulmonary infection.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725446

Fatal toxicity following radio- and chemotherapy of medulloblastoma in a child with unrecognized Nijmegen breakage syndrome

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725446

Chromosomal fragility syndrome and family history of radiosensitivity as indicators for radiotherapy dose modification

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725446

Normal cellular radiosensitivity in an adult Fanconi anaemia patient with marked clinical radiosensitivity

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725446

Radiotherapeutic management of medulloblastoma in a pediatric patient with ataxia telangiectasia.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725446

Clinical and cellular radiosensitivity in inherited human syndromes

2 September 2018

1 reference

12 December 2020

Familial hypoplastic anemia with multiple congenital anomalies (Fanconi's syndrome)--report of three cases. Cases presented are of two sisters and a female cousin with complete clinical and post mortem findings

1 reference

12 December 2020

Ataxia telangiectasia. Neoplasia, untoward response to x-irradiation, and tuberous sclerosis

1 reference

12 December 2020

Radiation reaction in ataxia telangiectasia

1 reference

12 December 2020

The role played by radiotherapy in the UKALL III series of trials for the treatment of acute lymphoblastic leukaemia in childhood

1 reference

12 December 2020

Squamous cell carcinoma of the mandible in Franconi anemia: report of case

1 reference

12 December 2020

Carcinoma of the Esophagus Associated with Fanconiʼs Anemia

1 reference

12 December 2020

Ataxia telangiectasia with cancer. An indication for reduced radiotherapy and chemotherapy doses

1 reference

12 December 2020

Association of Fanconi's anemia and squamous-cell carcinoma of the lower female genital tract with condyloma acuminatum. A report of two cases

1 reference

12 December 2020

[Fanconi's anemia. Response to low doses of anabolics and association with carcinoma of the esophagus]

1 reference

12 December 2020

[Cancer of the mucous membrane of the left side of the mouth associated with congenital hypoplastic Fanconi's anemia in a 14-year-old boy]

1 reference

12 December 2020

Genetic complementation analysis of ataxia telangiectasia and Nijmegen breakage syndrome: a survey of 50 patients

1 reference

12 December 2020

Squamous carcinoma of the head and neck in organ transplant recipients: possible role of oncogenic viruses

1 reference

12 December 2020

Increased radiosensitivity in a child with T-cell non-Hodgkin's lymphoma

1 reference

12 December 2020

Oral squamous cell carcinoma after allogeneic bone marrow transplantation for Fanconi anaemia

1 reference

12 December 2020

Radiation response in vitro of fibroblasts from a fanconi anemia patient with marked clinical radiosensitivity

1 reference

12 December 2020

Immunodeficiency, radiosensitivity, and the XCIND syndrome

1 reference

12 December 2020

Squamous cell vulvar carcinoma associated with Fanconi's anemia: a case report

1 reference

12 December 2020

DNA repair: Damage alert

1 reference

12 December 2020

10.1016/J.IJROBP.2009.02.057

Identifiers

DOI

1 reference

19 August 2017

1 reference

19 August 2017

1 reference

PMCID

2725446