(Q43892836)

27 November 2017

title

Novel SMARCAL1 bi-allelic mutations associated with a chromosomal breakage phenotype in a severe SIOD patient (English)

1 reference

27 November 2017

1

Amos J Simon

1 reference

27 November 2017

7

Raz Somech

1 reference

27 November 2017

5

David Korn

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27 November 2017

2

Atar Lev

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27 November 2017

Marta Jeison

3

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27 November 2017

Zvi U Borochowitz

series ordinal

4

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27 November 2017

Yaniv Lerenthal

series ordinal

6

1 reference

27 November 2017

publication date

7 November 2013

1 reference

Journal of Clinical Immunology

27 November 2017

published in

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27 November 2017

volume

34

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27 November 2017

issue

1

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27 November 2017

page(s)

76-83

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DNA strand break repair and human genetic disease

27 November 2017

cites work

1 reference

https://api.crossref.org/works/10.1007%2FS10875-013-9957-3

Abnormalities in DNA double-strand break response beyond primary immunodeficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-013-9957-3

Schimke immunoosseous dysplasia: suggestions of genetic diversity.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-013-9957-3

The annealing helicase SMARCAL1 maintains genome integrity at stalled replication forks

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-013-9957-3

Identification of multiple distinct Snf2 subfamilies with conserved structural motifs.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-013-9957-3

Identification of SMARCAL1 as a component of the DNA damage response

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-013-9957-3

SMARCAL1 catalyzes fork regression and Holliday junction migration to maintain genome stability during DNA replication

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-013-9957-3

Identification and characterization of SMARCAL1 protein complexes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-013-9957-3

The SIOD disorder protein SMARCAL1 is an RPA-interacting protein involved in replication fork restart

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-013-9957-3

Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-013-9957-3

SMARCAL1 deficiency predisposes to non-Hodgkin lymphoma and hypersensitivity to genotoxic agents in vivo.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-013-9957-3

Assessing the enrichment performance in targeted resequencing experiments

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-013-9957-3

The Sequence Alignment/Map format and SAMtools

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-013-9957-3

Longevity in Schimke immuno-osseous dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-013-9957-3

Generalized atherosclerosis sparing the transplanted kidney in Schimke disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-013-9957-3

Molecular assessment of thymic capacities in patients with Schimke immuno-osseous dysplasia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-013-9957-3

Schimke immuno-osseous dysplasia: SMARCAL1 loss-of-function and phenotypic correlation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10875-013-9957-3

Prenatal and postnatal diagnosis and carrier detection of Fanconi anemia by a cytogenetic method

21 January 2018

1 reference

12 December 2020

Schimke Immunoosseous Dysplasia associated with undifferentiated carcinoma and a novel SMARCAL1 mutation in a child.

1 reference

12 December 2020

Fanconi's anemia: a cytogenetic study on lymphocyte and bone marrow cultures utilizing 1,2:3,4-diepoxybutane

1 reference

12 December 2020

DEB test for Fanconi anemia detection in patients with atypical phenotypes

1 reference

12 December 2020

Schimke-immuno-osseous dysplasia: new mutation with weak genotype-phenotype correlation in siblings

1 reference

12 December 2020

SMARCAL1 and replication stress: an explanation for SIOD?

1 reference

12 December 2020

10.1007/S10875-013-9957-3

Identifiers

DOI

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Dimensions Publication ID

27 November 2017

1028690049

0 references

Fatcat ID

release_3ew2wncbuzfpdlyp4bo563p7p4

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/3ew2wncbuzfpdlyp4bo563p7p4

24 November 2022

mapped directly with Wikidata item

1 reference