(Q57658606)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23401163%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

title

Cryptic 7q36.2q36.3 deletion causes multiple congenital eye anomalies and craniofacial dysmorphism (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23401163%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

2

1 reference

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23 February 2020

Isabel M. Carreira

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23401163%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Eduardo Silva

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23401163%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

author name string

Ana Beleza-Meireles

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23401163%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Lina Ramos

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23401163%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Joana B Melo

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23401163%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Jorge M Saraiva

7

1 reference

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23 February 2020

language of work or name

English

0 references

publication date

7 February 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23401163%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics

23 February 2020

published in

1 reference

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23 February 2020

volume

161A

1 reference

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23 February 2020

issue

3

1 reference

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23 February 2020

page(s)

589-593

1 reference

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A copy number variation morbidity map of developmental delay

23 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35713

De novo 7q36 deletion: breakpoint analysis and types of holoprosencephaly.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35713

Sonic Hedgehog deletion and distal trisomy 3p in a patient with microphthalmia and microcephaly, lacking cerebral anomalies typical of holoprosencephaly.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35713

Aberrant forebrain signaling during early development underlies the generation of holoprosencephaly and coloboma.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35713

Xenopus sonic hedgehog guides retinal axons along the optic tract

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35713

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35713

Minimal clinical expression of the holoprosencephaly spectrum and of Currarino syndrome due to different cytogenetic rearrangements deleting the Sonic Hedgehog gene and the HLXB9 gene at 7q36.3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35713

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35713

A broad range of ophthalmologic anomalies is part of the holoprosencephaly spectrum.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35713

Restoring eye size in Astyanax mexicanus blind cavefish embryos through modulation of the Shh and Fgf8 forebrain organising centres

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35713

Eye development genes and known syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35713

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.35713

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23401163%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

1 reference