(Q33681169)

28 July 2017

1 reference

title

Distal 6p deletion syndrome: a report of a case with anterior chamber eye anomaly and review of published reports (English)

1 reference

28 July 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9719381

chromosomal deletion syndrome

7 January 2025

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9719381

7 January 2025

author name string

C. J. Law

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9719381

7 January 2025

A. M. Fisher

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9719381

7 January 2025

I. K. Temple

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9719381

7 January 2025

language of work or name

English

0 references

publication date

1 August 1998

1 reference

28 July 2017

August 1998

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=9719381

full work available at URL

7 January 2025

https://jmg.bmj.com/content/jmedgenet/35/8/685.full.pdf

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9719381

https://europepmc.org/articles/PMC1051400

7 January 2025

file format

HyperText Markup Language

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9719381

https://europepmc.org/articles/PMC1051400?pdf=render

7 January 2025

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9719381

https://syndication.highwire.org/content/doi/10.1136/jmg.35.8.685

7 January 2025

1 reference

https://api.crossref.org/works/10.1136/JMG.35.8.685

Journal of Medical Genetics

7 January 2025

published in

1 reference

28 July 2017

volume

35

1 reference

28 July 2017

issue

8

1 reference

28 July 2017

page(s)

685-689

1 reference

Autosomal Dominant Axenfeld‐Rieger Anomaly Maps to 6p25

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051400

Autosomal dominant iridogoniodysgenesis anomaly maps to 6p25

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051400

Terminal deletion of 6p: report of a new case.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051400

A patient with an interstitial deletion of the short arm of chromosome 6

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051400

Fluorescence in situ hybridization with human chromosome-specific libraries: detection of trisomy 21 and translocations of chromosome 4.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051400

Two rare cases of 6p partial deletion.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051400

Partial deletion of chromosome 6p: delineation of the 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=1051400

A detailed investigation of two cases exhibiting characteristics of the 6p deletion 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=1051400

Tandem Y/6 translocation with partial deletion 6 (p23----pter)

30 October 2018

1 reference

12 December 2020

Distal deletion of the short arm of chromosome 6

1 reference

12 December 2020

Terminal deletion 6p23: a case report

1 reference

12 December 2020

Clinical evidence for localisation of HLA proximal of chromosome 6p22

1 reference

12 December 2020

Evidence of a locus for orofacial clefting on human chromosome 6p24 and STS content map of the region

1 reference

12 December 2020

A complete set of human telomeric probes and their clinical application. National Institutes of Health and Institute of Molecular Medicine collaboration

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.35.8.685

1 reference

28 July 2017

1 reference

28 July 2017

1 reference