(Q51937117)

17 April 2018

title

NR2F1 deletion in a patient with a de novo paracentric inversion, inv(5)(q15q33.2), and syndromic deafness. (English)

1 reference

17 April 2018

1 reference

4

1 reference

17 April 2018

Fowzan S Alkuraya

2

object named as

Fowzan S Alkuraya

1 reference

17 April 2018

Kerry K Brown

1

1 reference

17 April 2018

Michael Matos

3

1 reference

17 April 2018

Virginia E Kimonis

5

1 reference

17 April 2018

Cynthia C Morton

6

1 reference

17 April 2018

language of work or name

English

0 references

publication date

1 May 2009

1 reference

17 April 2018

American Journal of Medical Genetics

published in

1 reference

17 April 2018

volume

149A

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17 April 2018

issue

5

1 reference

17 April 2018

page(s)

931-938

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17 April 2018

FISH mapping of de novo apparently balanced chromosome rearrangements identifies characteristics associated with phenotypic abnormality

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2777524

Breakpoint mapping and array CGH in translocations: comparison of a phenotypically normal and an abnormal cohort

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2777524

Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2777524

Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2777524

SAP30L interacts with members of the Sin3A corepressor complex and targets Sin3A to the nucleolus

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2777524

Notch1 is essential for postnatal hair follicle development and homeostasis

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2777524

The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2777524

Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2777524

DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2777524

Transcription mapping of the 5q- syndrome critical region: cloning of two novel genes and sequencing, expression, and mapping of a further six novel cDNAs

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2777524

Human cochlear expressed sequence tags provide insight into cochlear gene expression and identify candidate genes for deafness

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2777524

The Hand1 bHLH transcription factor is essential for placentation and cardiac morphogenesis

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2777524

Heart and extra-embryonic mesodermal defects in mouse embryos lacking the bHLH transcription factor Hand1

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2777524

A case of de novo interstitial deletion of chromosome 5(q33q34).

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2777524

Null mutation of mCOUP-TFI results in defects in morphogenesis of the glossopharyngeal ganglion, axonal projection, and arborization.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2777524

Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2777524

Purification of the human NF-E2 complex: cDNA cloning of the hematopoietic cell-specific subunit and evidence for an associated partner

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2777524

Chicken ovalbumin upstream promoter transcription factor (COUP-TF): expression during mouse embryogenesis.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2777524

De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2777524

COUP-TFI controls Notch regulation of hair cell and support cell differentiation.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2777524

Detection of deletions in de novo "balanced" chromosome rearrangements: further evidence for their role in phenotypic abnormalities.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2777524

[Chromosome 5q-syndrome-ENT pathologies]

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2777524

Cloning and expression during development of three murine members of the COUP family of nuclear orphan receptors

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2777524

Molecular cloning of the microfibrillar protein MFAP3 and assignment of the gene to human chromosome 5q32-q33.2.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2777524

A new UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase mRNA exhibits predominant expression in the hypothalamus, thalamus and amygdala of mouse forebrain

13 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19353646

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Interstitial deletion in the long arm of chromosome No. 5

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19353646

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Activation of Notch1 in the hair follicle leads to cell-fate switch and Mohawk alopecia

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19353646

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/AJMG.A.32764

1 reference

17 April 2018

PMC publication ID

2777524

1 reference

17 April 2018

PubMed publication ID

19353646

1 reference

17 April 2018