(Q50485102)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12529712%20AND%20SRC:MED&resulttype=core&format=json

16 December 2019

title

Cryptic subtelomeric 6p deletion in a girl with congenital malformations and severe language impairment (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12529712%20AND%20SRC:MED&resulttype=core&format=json

16 December 2019

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12529712%20AND%20SRC:MED&resulttype=core&format=json

16 December 2019

Åsa H Everhov

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12529712%20AND%20SRC:MED&resulttype=core&format=json

16 December 2019

author name string

Britt-Marie Anderlid

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12529712%20AND%20SRC:MED&resulttype=core&format=json

16 December 2019

Jacqueline Schoumans

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12529712%20AND%20SRC:MED&resulttype=core&format=json

16 December 2019

Ylva Ståhl

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12529712%20AND%20SRC:MED&resulttype=core&format=json

16 December 2019

Agneta Wallin

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12529712%20AND%20SRC:MED&resulttype=core&format=json

16 December 2019

Elisabeth Blennow

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12529712%20AND%20SRC:MED&resulttype=core&format=json

16 December 2019

publication date

1 January 2003

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12529712%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

16 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12529712%20AND%20SRC:MED&resulttype=core&format=json

16 December 2019

volume

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12529712%20AND%20SRC:MED&resulttype=core&format=json

16 December 2019

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12529712%20AND%20SRC:MED&resulttype=core&format=json

16 December 2019

page(s)

89-92

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12529712%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5200907

16 December 2019

exact match

0 references

cites work

Partial deletion of chromosome 6p: delineation of the syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200907

A detailed investigation of two cases exhibiting characteristics of the 6p deletion syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200907

Delineation of two distinct 6p deletion syndromes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200907

Subtle chromosomal rearrangements in children with unexplained mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200907

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200907

Five years on the wings of fork head

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200907

A fork in the road to fertility.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200907

A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200907

Haploinsufficiency of the transcription factors FOXC1 and FOXC2 results in aberrant ocular development

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200907

Mutation of the gene encoding human TTF-2 associated with thyroid agenesis, cleft palate and choanal atresia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200907

Mutations in FOXC2 (MFH-1), a forkhead family transcription factor, are responsible for the hereditary lymphedema-distichiasis syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200907

The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200907

Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200907

The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200907

A forkhead-domain gene is mutated in a severe speech and language disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200907

Localisation of a gene implicated in a severe speech and language disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200907

Forkhead transcription factor FoxF2 is expressed in mesodermal tissues involved in epithelio-mesenchymal interactions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200907

Cloning of human lymphocyte-specific interferon regulatory factor (hLSIRF/hIRF4) and mapping of the gene to 6p23-p25

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200907