(Q35789900)

English

Long polymerase chain reaction-based fluorescence in situ hybridization analysis of female carriers of X-linked chronic granulomatous disease deletions.

scientific article published on May 2005

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15858141%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

Long polymerase chain reaction-based fluorescence in situ hybridization analysis of female carriers of X-linked chronic granulomatous disease deletions (English)

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15858141%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

X-linked chronic granulomatous disease

0 references

6

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15858141%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

author name string

Kelly Claire Simon

1

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15858141%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

Deborah Noack

2

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15858141%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

Julie Rae

3

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15858141%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

John Curnutte

4

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15858141%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

Shireen Sarraf

5

1 reference

Europe PubMed Central

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11 January 2020

Jan K Blancato

7

1 reference

Europe PubMed Central

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11 January 2020

publication date

1 May 2005

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15858141%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

The Journal of Molecular Diagnostics

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15858141%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

7

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15858141%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

2

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15858141%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

183-186

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15858141%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

Molecular analysis of X-linked chronic granulomatous disease in five unrelated Korean patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867526

12 July 2018

Hematologically important mutations: X-linked chronic granulomatous disease (second update).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867526

12 July 2018

Anisomastia associated with interstitial duplication of chromosome 16, mental retardation, obesity, dysmorphic facies, and digital anomalies: molecular mapping of a new syndrome by fluorescent in situ hybridization and microsatellites to 16q13 (D16S

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867526

12 July 2018

Genetic, biochemical, and clinical features of chronic granulomatous disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867526

12 July 2018

Chronic granulomatous disease. Report on a national registry of 368 patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867526

12 July 2018

X-Linked chronic granulomatous disease: mutations in the CYBB gene encoding the gp91-phox component of respiratory-burst oxidase.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867526

12 July 2018

Chronic granulomatous disease: the solving of a clinical riddle at the molecular level

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867526

12 July 2018

Purified cytochrome b from human granulocyte plasma membrane is comprised of two polypeptides with relative molecular weights of 91,000 and 22,000

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867526

12 July 2018

Severe phenotype of chronic granulomatous disease presenting in a female with a de novo mutation in gp91-phox and a non familial, extremely skewed X chromosome inactivation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867526

25 September 2018

An unusual intronic mutation in the CYBB gene giving rise to chronic granulomatous disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867526

25 September 2018

Characterization of 11 novel mutations in the X-linked chronic granulomatous disease (CYBB gene).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867526

25 September 2018

A new X-linked variant of chronic granulomatous disease characterized by the existence of a normal clone of respiratory burst-competent phagocytic cells.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867526

25 September 2018

Identification of female carriers for Duchenne and Becker muscular dystrophies using a FISH-based approach

1 reference

https://pubmed.ncbi.nlm.nih.gov/15858141

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Microdeletion Syndromes: Characteristics and Diagnosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/15858141

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Chronic granulomatous disease due to granulocytes with abnormal NADPH oxidase activity and deficient cytochrome-b

1 reference

https://pubmed.ncbi.nlm.nih.gov/15858141

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A study of 25 patients with chronic granulomatous disease: a new classification by correlating respiratory burst, cytochrome b, and flavoprotein

1 reference

https://pubmed.ncbi.nlm.nih.gov/15858141

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/S1525-1578(10)60544-2

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15858141%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

release_dgecuum765c6jekb6gm4yf4jv4

1 reference

https://api.fatcat.wiki/v0/release/dgecuum765c6jekb6gm4yf4jv4

24 November 2022

based on heuristic

mapped directly with Wikidata item

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15858141%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15858141%20AND%20SRC:MED&resulttype=core&format=json

11 January 2020

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