(Q54378323)

English

Homozygosity mapping identifies the Crumbs homologue 1 (Crb1) gene as responsible for a recessive syndrome of retinitis pigmentosa and nanophthalmos.

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scholarly article

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Europe PubMed Central

PubMed publication ID

29 May 2018

http://europepmc.org/abstract/MED/21484995

Homozygosity mapping identifies the Crumbs homologue 1 (Crb1) gene as responsible for a recessive syndrome of retinitis pigmentosa and nanophthalmos. (English)

1 reference

Europe PubMed Central

PubMed publication ID

29 May 2018

http://europepmc.org/abstract/MED/21484995

retinitis pigmentosa

1 reference

based on heuristic

inferred from title

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based on heuristic

inferred from title

author name string

Juan Carlos Zenteno

1

1 reference

Europe PubMed Central

PubMed publication ID

29 May 2018

http://europepmc.org/abstract/MED/21484995

Beatriz Buentello-Volante

2

1 reference

Europe PubMed Central

PubMed publication ID

29 May 2018

http://europepmc.org/abstract/MED/21484995

Raul Ayala-Ramirez

3

1 reference

Europe PubMed Central

PubMed publication ID

29 May 2018

http://europepmc.org/abstract/MED/21484995

Cristina Villanueva-Mendoza

4

1 reference

Europe PubMed Central

PubMed publication ID

29 May 2018

http://europepmc.org/abstract/MED/21484995

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publication date

11 April 2011

1 reference

Europe PubMed Central

PubMed publication ID

29 May 2018

http://europepmc.org/abstract/MED/21484995

American Journal of Medical Genetics

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Europe PubMed Central

PubMed publication ID

29 May 2018

http://europepmc.org/abstract/MED/21484995

155A

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Europe PubMed Central

PubMed publication ID

29 May 2018

http://europepmc.org/abstract/MED/21484995

5

1 reference

Europe PubMed Central

PubMed publication ID

29 May 2018

http://europepmc.org/abstract/MED/21484995

1001-1006

1 reference

Europe PubMed Central

PubMed publication ID

29 May 2018

http://europepmc.org/abstract/MED/21484995

Leber congenital amaurosis: a genetic paradigm

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33862

21 January 2018

Molecular genetics of Leber congenital amaurosis

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33862

21 January 2018

Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12)

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33862

21 January 2018

Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33862

21 January 2018

CRB1 has a cytoplasmic domain that is functionally conserved between human and Drosophila

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33862

21 January 2018

CRB1 mutation spectrum in inherited retinal dystrophies

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33862

21 January 2018

Leber congenital amaurosis: genes, proteins and disease mechanisms

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33862

21 January 2018

Retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33862

21 January 2018

Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33862

21 January 2018

Genetic testing for retinal dystrophies and dysfunctions: benefits, dilemmas and solutions

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33862

21 January 2018

Mutations in the CRB1 gene cause Leber congenital amaurosis

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33862

21 January 2018

CRB1 mutations may result in retinitis pigmentosa without para-arteriolar RPE preservation

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33862

21 January 2018

CRB1 is essential for external limiting membrane integrity and photoreceptor morphogenesis in the mammalian retina

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33862

21 January 2018

Crumbs, the Drosophila homologue of human CRB1/RP12, is essential for photoreceptor morphogenesis

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33862

21 January 2018

Towards understanding CRUMBS function in retinal dystrophies.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33862

21 January 2018

Crumbs is required to achieve proper organ size control during Drosophila head development

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33862

21 January 2018

GeneDistiller--distilling candidate genes from linkage intervals

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33862

21 January 2018

HomozygosityMapper--an interactive approach to homozygosity mapping

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33862

21 January 2018

Epithelial cell polarity and cell junctions in Drosophila

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.33862

21 January 2018

Identifiers

10.1002/AJMG.A.33862

1 reference

Europe PubMed Central

PubMed publication ID

29 May 2018

http://europepmc.org/abstract/MED/21484995

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

29 May 2018

http://europepmc.org/abstract/MED/21484995

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