Rapid genotyping for most common TGFBI mutations with real-time polymerase chain reaction (Q81471628)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15744520%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

title

Rapid genotyping for most common TGFBI mutations with real-time polymerase chain reaction (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15744520%20AND%20SRC:MED&resulttype=core&format=json

real-time polymerase chain reaction

9 January 2020

main subject

1 reference

Shigeo Yoshida

1

1 reference

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9 January 2020

Yoko Yamaji

2

1 reference

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9 January 2020

Ayako Yoshida

3

1 reference

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9 January 2020

Yoshihiro Noda

4

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9 January 2020

Yuji Kumano

5

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9 January 2020

Tatsuro Ishibashi

6

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9 January 2020

publication date

3 March 2005

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9 January 2020

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15744520%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

volume

116

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9 January 2020

issue

6

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9 January 2020

page(s)

518-524

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https://scigraph.springernature.com/pub.10.1007/s00439-005-1269-0

9 January 2020

exact match

0 references

cites work

A new mutation (Leu569Arg) within Exon 13 of the TGFBI (BIGH3) gene causes lattice corneal dystrophy type I

1 reference

12 December 2020

Severe form of juvenile corneal stromal dystrophy with homozygous R124H mutation in the keratoepithelin gene in five Japanese patients

1 reference

12 December 2020

Mutation hot spots in 5q31-linked corneal dystrophies

1 reference

12 December 2020

Lattice corneal dystrophy type I without typical lattice lines: role of mutational analysis

1 reference

12 December 2020

Two mutations in the TGFBI (BIGH3) gene associated with lattice corneal dystrophy in an extensively studied family

1 reference

12 December 2020

Novel mutation in FZD4 gene in a Japanese pedigree with familial exudative vitreoretinopathy

1 reference

12 December 2020

Real-time fluorescence genotyping of factor V Leiden during rapid-cycle PCR

1 reference

12 December 2020

The molecular genetics of the corneal dystrophies--current status

1 reference

12 December 2020

Unusual phenotype of an individual with the R124C mutation in the TGFBI gene.

1 reference

12 December 2020

Late-onset form of lattice corneal dystrophy caused by leu527Arg mutation of the TGFBI gene

1 reference

12 December 2020

The spectrum of beta ig-h3 gene mutations in Japanese patients with corneal dystrophy

1 reference

12 December 2020

Polymorphic corneal amyloidosis: a disorder due to a novel mutation in the transforming growth factor beta-induced (BIGH3) gene

1 reference

12 December 2020

Lattice corneal dystrophy associated with the Ala546Asp and Pro551Gln missense changes in the TGFBI gene

1 reference

12 December 2020

Granular corneal dystrophy with homozygous mutations in the kerato-epithelin gene

1 reference

12 December 2020

An unusual clinical phenotype of Avellino corneal dystrophy associated with an Arg124His beta iG-H3 mutation in an African-American woman

1 reference

12 December 2020

Rapid detection of prothrombotic mutations of prothrombin (G20210A), factor V (G1691A), and methylenetetrahydrofolate reductase (C677T) by real-time fluorescence PCR with the LightCycler

1 reference

12 December 2020

An analysis of BIGH3 mutations in patients with corneal dystrophies in the Kyushu district of Japan

1 reference

12 December 2020

Novel mutation in ABCC6 gene in a Japanese pedigree with pseudoxanthoma elasticum and retinitis pigmentosa

1 reference

12 December 2020

Gelatino-lattice corneal dystrophy: clinical features and mutational analysis

1 reference

12 December 2020

Survey of patients with granular, lattice, avellino, and Reis-Bücklers corneal dystrophies for mutations in the BIGH3 and gelsolin genes.

1 reference

12 December 2020

Role of MCP-1 and MIP-1alpha in retinal neovascularization during postischemic inflammation in a mouse model of retinal neovascularization

1 reference

12 December 2020

Corneal dystrophies in Japan

1 reference

12 December 2020

Assessment of a rapid-cycle PCR assay for the identification of the recurrent c.3421C>T mutation in the ABCC6 gene in pseudoxanthoma elasticum patients.

1 reference

12 December 2020

Varied appearance of cornea of patients with corneal dystrophy associated with R124H mutation in the BIGH3 gene

1 reference

12 December 2020

H626R and R124C mutations of the TGFBI (BIGH3) gene caused lattice corneal dystrophy in Vietnamese people

1 reference

12 December 2020

Association of autosomal dominantly inherited corneal dystrophies with BIGH3 gene mutations in Japan

1 reference

12 December 2020

Integrated amplification and detection of the C677T point mutation in the methylenetetrahydrofolate reductase gene by fluorescence resonance energy transfer and probe melting curves

1 reference

12 December 2020

Detection of the hereditary hemochromatosis gene mutation by real-time fluorescence polymerase chain reaction and peptide nucleic acid clamping

1 reference

12 December 2020

A new L527R mutation of the betaIGH3 gene in patients with lattice corneal dystrophy with deep stromal opacities

1 reference

12 December 2020

Homogeneity of kerato-epithelin codon 124 mutations in Japanese patients with either of two types of corneal stromal dystrophy

1 reference

12 December 2020

A novel diagnostic test detects a low frequency of the hemicentin Gln5345Arg variant among Northern Irish age related macular degeneration patients.

1 reference

12 December 2020

Kerato-epithelin mutations in four 5q31-linked corneal dystrophies

1 reference

12 December 2020

Two brothers with gelatinous drop-like dystrophy at different stages of the disease: role of mutational analysis

1 reference

12 December 2020

Clinical outcome of eight BIGH3-linked corneal dystrophies.

1 reference

12 December 2020

Involvement of macrophage chemotactic protein-1 and interleukin-1beta during inflammatory but not basic fibroblast growth factor-dependent neovascularization in the mouse cornea

1 reference

12 December 2020

Histologic phenotype-genotype correlation of corneal dystrophies associated with eight distinct mutations in the TGFBI gene

1 reference

12 December 2020

Six different mutations of TGFBI (betaig-h3, keratoepithelin) gene found in Japanese corneal dystrophies

1 reference

12 December 2020

BIGH3 mutation in a Bangladeshi family with a variable phenotype of LCDI.

1 reference

12 December 2020

Corneal amyloidosis caused by Leu518Pro mutation of betaig-h3 gene

1 reference

12 December 2020

Different recurrence patterns after phototherapeutic keratectomy in the corneal dystrophy resulting from homozygous and heterozygous R124H BIG-H3 mutation

1 reference

12 December 2020

Recurrence of corneal dystrophy resulting from an R124H Big-h3 mutation after phototherapeutic keratectomy

1 reference

12 December 2020

Leu518Pro mutation of the beta ig-h3 gene causes lattice corneal dystrophy type I

1 reference

12 December 2020

The usefulness of buccal swabs for mutation screening in patients with suspected corneal dystrophies

1 reference

12 December 2020

Severe corneal dystrophy phenotype caused by homozygous R124H keratoepithelin mutations

1 reference

12 December 2020