(Q26785520)

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26 February 2020

1 reference

25 November 2020

The Genetics and the Genomics of Primary Congenital Glaucoma (English)

1 reference

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26 February 2020

0 references

2 references

22 April 2019

25 April 2019

2 references

22 April 2019

25 April 2019

1 reference

25 November 2020

primary congenital glaucoma

1 reference

2

1 reference

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26 February 2020

Federico Ricci

5

1 reference

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26 February 2020

Emiliano Giardina

7

1 reference

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26 February 2020

author name string

Raffaella Cascella

1

1 reference

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26 February 2020

Chiara Germani

3

1 reference

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26 February 2020

Giuseppe Novelli

4

1 reference

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26 February 2020

Stefania Zampatti

6

1 reference

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26 February 2020

language of work or name

English

0 references

publication date

16 September 2015

4 references

22 April 2019

25 April 2019

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26 February 2020

25 November 2020

BioMed Research International

5 references

22 April 2019

25 April 2019

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26 February 2020

25 November 2020

2015

1 reference

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26 February 2020

page(s)

321291

1 reference

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Creative Commons Attribution 3.0 Unported

26 February 2020

copyright license

3 references

22 April 2019

25 April 2019

on focus list of Wikimedia project

25 November 2020

copyright status

copyrighted

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ScienceSource

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cites work

Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (Buphthalmos) in families linked to the GLC3A locus on chromosome 2p21

1 reference

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Axenfeld-Rieger syndrome. A spectrum of developmental disorders

7 April 2017

1 reference

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Cytochrome P450 1B1 and Primary Congenital Glaucoma

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4588317

Carrier frequency of CYP1B1 mutations in the United States (an American Ophthalmological Society thesis).

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4588317

Primary congenital glaucoma outcomes: lessons from 23 years of follow-up

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4588317

28 September 2017

1 reference

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Genetics of keratoconus: where do we stand?

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4588317

Demographic features of subjects with congenital glaucoma

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4588317

The pathophysiology and treatment of glaucoma: a review

28 September 2017

1 reference

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Common sequence variants in the LOXL1 gene in pigment dispersion syndrome and pigmentary glaucoma

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4588317

DNA methyl transferases are differentially expressed in the human anterior eye segment

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4588317

Genomics and anterior segment dysgenesis: a review

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4588317

Epigenetics and ocular diseases: from basic biology to clinical study

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4588317

Epigenetics in ocular diseases

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4588317

A review of primary congenital glaucoma in the developing world.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4588317

CYP1B1, MYOC, and LTBP2 mutations in primary congenital glaucoma patients in the United States.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4588317

Screening of CYP1B1 and LTBP2 genes in Saudi families with primary congenital glaucoma: genotype-phenotype correlation.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4588317

Genetics of primary glaucoma

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4588317

Genetics of anterior segment dysgenesis disorders

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4588317

Molecular genetic studies of gene identification for osteoporosis: the 2009 update

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4588317

Null mutations in LTBP2 cause primary congenital glaucoma

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4588317

Aniridia: current pathology and management.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4588317

Molecular and developmental mechanisms of anterior segment dysgenesis.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4588317

Mapping the future of common diseases: lessons from psoriasis.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4588317

The psoriasis genetics as a model of complex disease

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4588317

The genetic and molecular basis of congenital eye defects

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4588317

Anterior segment dysgenesis and the developmental glaucomas are complex traits

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4588317

Description of X-linked megalocornea with identification of the gene locus

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4588317

Ocular Genetics: A Sub-specialty Service for Genetic Eye Diseases

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4588317

Update on congenital glaucoma

31 May 2018

1 reference

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The Histopathology of Peters' Anomaly

31 May 2018

1 reference

12 December 2020

Myocilin gene implicated in primary congenital glaucoma

1 reference

12 December 2020

The cell and molecular biology of complex forms of glaucoma: updates on genetic, environmental, and epigenetic risk factors

1 reference

12 December 2020

Hereditary sclerocornea

1 reference

12 December 2020

Identifiers

DOI

10.1155/2015/321291

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26451367%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26451367%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

PubMed publication ID

26451367

1 reference