(Q38259296)

1 September 2017

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title

Fanconi anaemia: genetics, molecular biology, and cancer – implications for clinical management in children and adults (English)

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1 September 2017

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M Schneider

1

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1 September 2017

K Chandler

series ordinal

2

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1 September 2017

M Tischkowitz

series ordinal

3

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1 September 2017

S Meyer

series ordinal

4

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1 September 2017

publication date

10 November 2014

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1 September 2017

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1 September 2017

volume

88

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1 September 2017

issue

1

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1 September 2017

page(s)

13-24

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Fanconi anemia and its diagnosis

1 September 2017

cites work

1 reference

A 20-year perspective on the International Fanconi Anemia Registry (IFAR).

21 January 2018

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Genotype-phenotype correlations in Fanconi anemia

21 January 2018

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Diagnosis of Fanconi Anemia: Chromosomal Breakage Analysis

21 January 2018

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A novel diagnostic screen for defects in the Fanconi anemia pathway

21 January 2018

1 reference

Biallelic inactivation of BRCA2 in Fanconi anemia

21 January 2018

1 reference

Fanconi anaemia, BRCA2 mutations and childhood cancer: a developmental perspective from clinical and epidemiological observations with implications for genetic counselling

21 January 2018

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Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer

21 January 2018

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Fanconi anemia is associated with a defect in the BRCA2 partner PALB2.

21 January 2018

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PALB2/FANCN: Recombining Cancer and Fanconi Anemia

21 January 2018

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The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J

21 January 2018

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Mutation of the RAD51C gene in a Fanconi anemia-like disorder

21 January 2018

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Exome sequencing reveals a novel Fanconi group defined by XRCC2 mutation

21 January 2018

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Rare mutations in XRCC2 increase the risk of breast cancer

21 January 2018

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Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene

21 January 2018

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Biallelic deleterious BRCA1 mutations in a woman with early-onset ovarian cancer

21 January 2018

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Mutations in ERCC4, encoding the DNA-repair endonuclease XPF, cause Fanconi anemia

21 January 2018

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Cancer incidence in relatives of British Fanconi Anaemia patients

21 January 2018

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Genetic heterogeneity among Fanconi anemia heterozygotes and risk of cancer

21 January 2018

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Mutations in BRIP1 confer high risk of ovarian cancer

21 January 2018

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Heterozygote FANCD2 mutations associated with childhood T Cell ALL and testicular seminoma.

21 January 2018

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Hypomorphic mutations in the gene encoding a key Fanconi anemia protein, FANCD2, sustain a significant group of FA-D2 patients with severe phenotype

21 January 2018

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DNA interstrand crosslink repair and cancer

21 January 2018

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Interstrand DNA cross-links induced by alpha,beta-unsaturated aldehydes derived from lipid peroxidation and environmental sources.

21 January 2018

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Fancd2 counteracts the toxic effects of naturally produced aldehydes in mice

21 January 2018

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Genotoxic consequences of endogenous aldehydes on mouse haematopoietic stem cell function

21 January 2018

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Formaldehyde catabolism is essential in cells deficient for the Fanconi anemia DNA-repair pathway.

21 January 2018

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Variant ALDH2 is associated with accelerated progression of bone marrow failure in Japanese Fanconi anemia patients.

21 January 2018

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Identification of FAAP24, a Fanconi anemia core complex protein that interacts with FANCM.

21 January 2018

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Fanconi anemia (FA) binding protein FAAP20 stabilizes FA complementation group A (FANCA) and participates in interstrand cross-link repair

21 January 2018

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The MHF complex senses branched DNA by binding a pair of crossover DNA duplexes

21 January 2018

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The histone-fold complex MHF is remodeled by FANCM to recognize branched DNA and protect genome stability

21 January 2018

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Fanconi anaemia and the repair of Watson and Crick DNA crosslinks

21 January 2018

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The carboxyl terminus of FANCE recruits FANCD2 to the Fanconi Anemia (FA) E3 ligase complex to promote the FA DNA repair pathway

21 January 2018

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A novel ubiquitin ligase is deficient in Fanconi anemia

21 January 2018

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

21 January 2018

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ATR couples FANCD2 monoubiquitination to the DNA-damage response

21 January 2018

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ATR: a master conductor of cellular responses to DNA replication stress

21 January 2018

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ATR-ATRIP kinase complex triggers activation of the Fanconi anemia DNA repair pathway

21 January 2018

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FANCI phosphorylation functions as a molecular switch to turn on the Fanconi anemia pathway

21 January 2018

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FANCI is a second monoubiquitinated member of the Fanconi anemia pathway

21 January 2018

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Identification of the FANCI protein, a monoubiquitinated FANCD2 paralog required for DNA repair

21 January 2018

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XPF-ERCC1 acts in Unhooking DNA interstrand crosslinks in cooperation with FANCD2 and FANCP/SLX4

21 January 2018

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Mouse SLX4 is a tumor suppressor that stimulates the activity of the nuclease XPF-ERCC1 in DNA crosslink repair

21 January 2018

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CtIP is required to initiate replication-dependent interstrand crosslink repair

21 January 2018

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FANCD2 and CtIP cooperate to repair DNA interstrand crosslinks

21 January 2018

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FANCD2 binds CtIP and regulates DNA-end resection during DNA interstrand crosslink repair.

21 January 2018

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BLM-DNA2-RPA-MRN and EXO1-BLM-RPA-MRN constitute two DNA end resection machineries for human DNA break repair

21 January 2018

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The deubiquitinating enzyme USP1 regulates the Fanconi anemia pathway

21 January 2018

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The FA pathway counteracts oxidative stress through selective protection of antioxidant defense gene promoters

21 January 2018

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TNF-alpha induces leukemic clonal evolution ex vivo in Fanconi anemia group C murine stem cells.

21 January 2018

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Hypoxia-reoxygenation induces premature senescence in FA bone marrow hematopoietic cells

21 January 2018

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Variable pathogenicity of exon 43del (FAA) in four Fanconi anaemia patients within a consanguineous family

21 January 2018

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The clinical and radiological features of Fanconi's anaemia

21 January 2018

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Bone marrow failure in Fanconi anemia is triggered by an exacerbated p53/p21 DNA damage response that impairs hematopoietic stem and progenitor cells

21 January 2018

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Cancer risks in Fanconi anemia: findings from the German Fanconi Anemia Registry

21 January 2018

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Treatment of the bone marrow failure in Fanconi anemia patients with danazol.

21 January 2018

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Oxandrolone for the treatment of bone marrow failure in Fanconi anemia

21 January 2018

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Diagnosis of myelodysplastic syndrome among a cohort of 119 patients with fanconi anemia: morphologic and cytogenetic characteristics

21 January 2018

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Amplification and translocation of 3q26 with overexpression of EVI1 in Fanconi anemia-derived childhood acute myeloid leukemia with biallelic FANCD1/BRCA2 disruption

21 January 2018

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Clonal chromosomal aberrations in bone marrow cells of Fanconi anemia patients: gains of the chromosomal segment 3q26q29 as an adverse risk factor.

21 January 2018

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Haematopoeitic cell transplantation for Fanconi anaemia - when and how?

21 January 2018

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Allogeneic hematopoietic cell transplantation for fanconi anemia in patients with pretransplantation cytogenetic abnormalities, myelodysplastic syndrome, or acute leukemia

21 January 2018

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21 January 2018

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Allogeneic hematopoietic stem cell transplantation in Fanconi anemia: the European Group for Blood and Marrow Transplantation experience

21 January 2018

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Audiologic abnormalities of Fanconi anaemia

21 January 2018

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Ocular manifestations and visual functions in patients with Fanconi anaemia

21 January 2018

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Endocrine phenotype of children and adults with Fanconi anemia

21 January 2018

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Endocrine abnormalities in patients with Fanconi anemia

21 January 2018

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Small pituitary size in children with Fanconi anemia

21 January 2018

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Incidental detection of Chiari malformation in Fanconi anaemia

21 January 2018

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Patients with Fanconi anemia and AML have different cytogenetic clones than de novo cases of AML.

21 January 2018

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Clinical and molecular characteristics of squamous cell carcinomas from Fanconi anemia patients

21 January 2018

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Salivary detection of periodontopathic bacteria in Fanconi's anemia patients.

21 January 2018

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Mycoplasma salivarium as a dominant coloniser of Fanconi anaemia associated oral carcinoma

21 January 2018

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Detection of early esophageal cancer and cervical lymph node metastases by (18)F-FDG PET/CT in a patient with Fanconi anemia.

21 January 2018

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Postoperative clinical radiosensitivity in patients with fanconi anemia and head and neck squamous cell carcinoma

21 January 2018

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Fatal course of tonsillar squamous cell carcinoma associated with Fanconi anaemia: a mini review

21 January 2018

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Fertility recovery and pregnancy after allogeneic hematopoietic stem cell transplantation in Fanconi anemia patients

21 January 2018

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Vulvar squamous cell carcinoma associated with Fanconi's anemia.

21 January 2018

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Fanconi's anaemia and pregnancy

21 January 2018

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Gene therapy for Fanconi anemia: one step closer to the clinic.

21 January 2018

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Development of lentiviral vectors with optimized transcriptional activity for the gene therapy of patients with Fanconi anemia

21 January 2018

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Targeted gene therapy and cell reprogramming in Fanconi anemia

21 January 2018

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The genetic and molecular basis of Fanconi anemia

21 January 2018

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Mutations of the SLX4 gene in Fanconi anemia

21 January 2018

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Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles

21 January 2018

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Should chromosome breakage studies be performed in patients with VACTERL association?

21 January 2018

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Squamous Cell Carcinoma of the Tongue in a 13-year-old Girl With Fanconi Anemia

21 January 2018

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21 January 2018

Identifiers

DOI

10.1111/CGE.12517

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1 September 2017

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