(Q33364258)

26 July 2017

0 references

Two hits in one: whole genome sequencing unveils LIG4 syndrome and urofacial syndrome in a case report of a child with complex phenotype (English)

1 reference

26 July 2017

whole genome sequencing

1 reference

1 reference

DNA ligase IV deficiency

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27855655%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

Bernice Lo

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27855655%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

12

Francesco M Marincola

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27855655%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

author name string

Fiza Butt

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27855655%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

Sara Tomei

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27855655%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

Sara Deola

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27855655%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

Amal Robay

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27855655%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

Alya Al-Shakaki

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27855655%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

Noor Al-Hajri

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27855655%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

Ronald Crystal

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27855655%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

Marios Kambouris

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27855655%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

Ena Wang

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27855655%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

Khalid A Fakhro

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27855655%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

Chiara Cugno

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27855655%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

publication date

17 November 2016

1 reference

26 July 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27855655%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

volume

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27855655%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27855655%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

page(s)

84

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27855655%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1186/s12881-016-0346-7

5 June 2020

exact match

0 references

cites work

Dubowitz syndrome is a complex comprised of multiple, genetically distinct and phenotypically overlapping disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5114772

Extreme growth failure is a common presentation of ligase IV deficiency

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5114772

Clinical spectrum of LIG4 deficiency is broadened with severe dysmaturity, primordial dwarfism, and neurological abnormalities

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5114772

Identification of the DNA repair defects in a case of Dubowitz syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5114772

LRIG2 mutations cause urofacial syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5114772

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5114772

A novel mutation in a family with DNA ligase IV deficiency syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5114772

DNA double-strand break repair: from mechanistic understanding to cancer treatment

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5114772

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5114772

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5114772

Can a congenital dysfunctional bladder be diagnosed from a smile? The Ochoa syndrome updated

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5114772

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5114772

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5114772

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5114772

Late embryonic lethality and impaired V(D)J recombination in mice lacking DNA ligase IV

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5114772

Molecular cloning and expression of human cDNAs encoding a novel DNA ligase IV and DNA ligase III, an enzyme active in DNA repair and recombination

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5114772

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

21 June 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2FS12881-016-0346-7

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

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2FS12881-016-0346-7

Ochoa syndrome: a spectrum of urofacial syndrome

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27855655

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Epstein-Barr virus-associated B-cell lymphoma in a patient with DNA ligase IV (LIG4) syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27855655

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Urofacial (ochoa) syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27855655

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/S12881-016-0346-7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27855655%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

5 June 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27855655%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

1 reference