(Q47768210)

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Physical and transcript map of the autosomal dominant colobomatous microphthalmia locus on chromosome 15q12-q15 and refinement to a 4.4 Mb region

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scholarly article

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Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/15083168

Physical and transcript map of the autosomal dominant colobomatous microphthalmia locus on chromosome 15q12-q15 and refinement to a 4.4 Mb region (English)

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Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/15083168

colobomatous microphthalmia

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based on heuristic

inferred from title

4

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Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/15083168

8

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Patrick Edery

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Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/15083168

author name string

Laetitia Michon

1

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Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/15083168

Laurette Morlé

2

1 reference

Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/15083168

Muriel Bozon

3

1 reference

Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/15083168

Jean-Christophe Zech

5

1 reference

Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/15083168

Jacqueline Godet

6

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Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/15083168

Henry Plauchu

7

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Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/15083168

publication date

1 July 2004

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Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/15083168

European Journal of Human Genetics

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Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/15083168

12

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Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/15083168

7

1 reference

Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/15083168

574-578

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Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/15083168

https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201197

0 references

Classification of microphthalmos and coloboma

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201197

21 January 2018

Human microphthalmia associated with mutations in the retinal homeobox gene CHX10

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201197

21 January 2018

Mutations in SOX2 cause anophthalmia

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201197

21 January 2018

Mutations in the human RAX homeobox gene in a patient with anophthalmia and sclerocornea

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201197

21 January 2018

Developmental genetics in ophthalmology.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201197

21 January 2018

Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201197

21 January 2018

A locus for autosomal recessive congenital microphthalmia maps to chromosome 14q32.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201197

21 January 2018

Autosomal dominant nanophthalmos (NNO1) with high hyperopia and angle-closure glaucoma maps to chromosome 11

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201197

21 January 2018

A locus for autosomal dominant colobomatous microphthalmia maps to chromosome 15q12-q15.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201197

21 January 2018

DRM/GREMLIN (CKTSF1B1) maps to human chromosome 15 and is highly expressed in adult and fetal brain

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201197

21 January 2018

A requirement for bone morphogenetic protein-7 during development of the mammalian kidney and eye

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201197

21 January 2018

Mouse GLI3 regulates Fgf8 expression and apoptosis in the developing neural tube, face, and limb bud

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201197

21 January 2018

Targeted ablation of connexin50 in mice results in microphthalmia and zonular pulverulent cataracts.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201197

21 January 2018

Genetic mapping of a novel X-linked recessive colobomatous microphthalmia

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201197

7 January 2021

based on heuristic

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Identifiers

10.1038/SJ.EJHG.5201197

1 reference

Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/15083168

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/15083168

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