A Chromosome 7 Pericentric Inversion Defined at Single-Nucleotide Resolution Using Diagnostic Whole Genome Sequencing in a Patient with Hand-Foot-Genital Syndrome (Q36043771)

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English	A Chromosome 7 Pericentric Inversion Defined at Single-Nucleotide Resolution Using Diagnostic Whole Genome Sequencing in a Patient with Hand-Foot-Genital Syndrome	scientific article

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scholarly article

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Europe PubMed Central

PMC publication ID

4896502

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11 August 2017

title

A Chromosome 7 Pericentric Inversion Defined at Single-Nucleotide Resolution Using Diagnostic Whole Genome Sequencing in a Patient with Hand-Foot-Genital Syndrome (English)

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Europe PubMed Central

PMC publication ID

4896502

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11 August 2017

main subject

whole genome sequencing

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based on heuristic

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author

David T. Bonthron

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7

object named as

David T Bonthron

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Eamonn Sheridan

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8

object named as

Eamonn Sheridan

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Ian M. Carr

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6

object named as

Ian M Carr

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Christopher M Watson

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Christopher M Watson

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1

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author name string

Laura A Crinnion

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2

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Europe PubMed Central

PMC publication ID

4896502

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11 August 2017

Sally M Harrison

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3

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Europe PubMed Central

PMC publication ID

4896502

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11 August 2017

Carolina Lascelles

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4

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Europe PubMed Central

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4896502

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11 August 2017

Agne Antanaviciute

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5

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Europe PubMed Central

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4896502

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11 August 2017

Eamonn Sheridan

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8

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Europe PubMed Central

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4896502

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11 August 2017

language of work or name

English

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publication date

7 June 2016

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Europe PubMed Central

PMC publication ID

4896502

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11 August 2017

full work available at URL

http://eprints.whiterose.ac.uk/101266/

content deliverer

White Rose Research Online

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Creative Commons Attribution

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PLOS One

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Europe PubMed Central

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4896502

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11 August 2017

volume

11

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Europe PubMed Central

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4896502

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11 August 2017

issue

6

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Europe PubMed Central

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4896502

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11 August 2017

page(s)

e0157075

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Europe PubMed Central

PMC publication ID

4896502

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11 August 2017

copyright license

Creative Commons Attribution 4.0 International

start time

7 June 2016

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April 2022 Public Data File from Crossref

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cites work

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Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome

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Mutation of HOXA13 in hand-foot-genital syndrome

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The molecular basis of hypodactyly (Hd): a deletion in Hoxa 13 leads to arrest of digital arch formation

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BAC transgenic analysis reveals enhancers sufficient for Hoxa13 and neighborhood gene expression in mouse embryonic distal limbs and genital bud.

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Conserved expression domains for genes upstream and within the HoxA and HoxD clusters suggests a long-range enhancer existed before cluster duplication.

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Haploinsufficiency of the HOXA gene cluster, in a patient with hand-foot-genital syndrome, velopharyngeal insufficiency, and persistent patent Ductus botalli

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Molecular cytogenetic and clinical characterization of a patient with a 5.6‐Mb deletion in 7p15 including HOXA cluster

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reference URL

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retrieved

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Identifiers

DOI

10.1371/JOURNAL.PONE.0157075

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Europe PubMed Central

PMC publication ID

4896502

retrieved

11 August 2017

ADS bibcode

2016PLoSO..1157075W

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Altmetric DOI

10.1371/JOURNAL.PONE.0157075

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CORE ID

90014884

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Dimensions Publication ID

1015626591

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PMC publication ID

4896502

1 reference

stated in

Europe PubMed Central

PMC publication ID

4896502

retrieved

11 August 2017

PubMed publication ID

27272187

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stated in

Europe PubMed Central

PMC publication ID

4896502

retrieved

11 August 2017

Scopus EID

2-s2.0-84975257291

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