Comprehensive analysis of pathogenic deletion variants in Fanconi anemia genes (Q35532131)

8 August 2017

title

Comprehensive analysis of pathogenic deletion variants in Fanconi anemia genes (English)

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8 August 2017

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16

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14

Agata Smogorzewska

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Narisu Narisu

6

object named as

Narisu Narisu

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Arleen D. Auerbach

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Arleen D Auerbach

15

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Margaret L MacMillan

12

object named as

Margaret L MacMillan

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8 August 2017

Elizabeth K Flynn

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8 August 2017

Aparna Kamat

2

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Francis P Lach

3

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8 August 2017

Frank X Donovan

4

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Danielle C Kimble

5

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8 August 2017

Narisu Narisu

6

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8 August 2017

Erica Sanborn

7

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8 August 2017

Farid Boulad

8

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8 August 2017

Stella M Davies

9

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Alfred P Gillio

10

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Richard E Harris

11

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John E Wagner

13

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Settara C Chandrasekharappa

17

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8 August 2017

publication date

1 November 2014

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8 August 2017

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8 August 2017

volume

35

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8 August 2017

issue

11

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8 August 2017

page(s)

1342-1353

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High frequency of exon 15 deletion in the FANCA gene in Tunisian patients affected with Fanconi anemia disease: implication for diagnosis.

8 August 2017

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

12 July 2018

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Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia.

12 July 2018

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Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain

12 July 2018

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Fanconi anaemia and the repair of Watson and Crick DNA crosslinks

12 July 2018

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A Dutch Fanconi Anemia FANCC Founder Mutation in Canadian Manitoba Mennonites

12 July 2018

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Alu-mediated deletion of SOX10 regulatory elements in Waardenburg syndrome type 4.

12 July 2018

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Frequency of nonallelic homologous recombination is correlated with length of homology: evidence that ectopic synapsis precedes ectopic crossing-over

12 July 2018

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Origin, functional role, and clinical impact of Fanconi anemia FANCA mutations

12 July 2018

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A human genome structural variation sequencing resource reveals insights into mutational mechanisms

12 July 2018

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Fanconi anemia and its diagnosis

12 July 2018

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Validation of Fanconi anemia complementation Group A assignment using molecular analysis.

12 July 2018

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Mechanisms for human genomic rearrangements

12 July 2018

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A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders

12 July 2018

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The mechanism of human nonhomologous DNA end joining

12 July 2018

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Genomic rearrangements in the BRCA1 and BRCA2 genes.

12 July 2018

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A common Fanconi anemia mutation in black populations of sub-Saharan Africa

12 July 2018

1 reference

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Whole-genome analysis of Alu repeat elements reveals complex evolutionary history

12 July 2018

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The mechanism of non-homologous end-joining: a synopsis of synapsis

12 July 2018

1 reference

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Haploview: analysis and visualization of LD and haplotype maps

12 July 2018

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A comparison of bayesian methods for haplotype reconstruction from population genotype data

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4407816

Molecular and genealogical evidence for a founder effect in Fanconi anemia families of the Afrikaner population of South Africa

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4407816

A New Statistical Method for Haplotype Reconstruction from Population Data

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4407816

High frequency of large intragenic deletions in the Fanconi anemia group A gene

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4407816

A common mutation in the FACC gene causes Fanconi anaemia in Ashkenazi Jews

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4407816

Cloning of cDNAs for Fanconi's anaemia by functional complementation

12 July 2018

1 reference

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Genotype-phenotype correlations in Fanconi anemia

12 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4407816

Alu-Alu recombination underlies the vast majority of large VHL germline deletions: Molecular characterization and genotype-phenotype correlations in VHL patients

26 September 2018

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A genome-wide scalable SNP genotyping assay using microarray technology

26 September 2018

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A common founder mutation in FANCA underlies the world's highest prevalence of Fanconi anemia in Gypsy families from Spain.

26 September 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4407816

Nonrandom distribution of alu elements in genes of various functional categories: insight from analysis of human chromosomes 21 and 22.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4407816

Fine exon-intron structure of the Fanconi anemia group A (FAA) gene and characterization of two genomic deletions

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4407816

Spectrum of sequence variation in theFANCG gene: An International Fanconi Anemia Registry (IFAR) study

26 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25168418

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identification ofAlu-mediated deletions in the Fanconi anemia geneFAA

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25168418

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Genetic subtyping of Fanconi anemia by comprehensive mutation screening

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25168418

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/HUMU.22680

1 reference

8 August 2017

1 reference

8 August 2017

1 reference