Chronic granulomatous disease, the McLeod phenotype and the contiguous gene deletion syndrome-a review (Q37960135)

25 August 2017

Chronic granulomatous disease, the McLeod phenotype and the contiguous gene deletion syndrome-a review (English)

1 reference

chronic granulomatous disease

25 August 2017

1 reference

Casey E Watkins

1

1 reference

25 August 2017

John Litchfield

2

1 reference

25 August 2017

Eunkyung Song

3

1 reference

25 August 2017

Gayatri B Jaishankar

4

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25 August 2017

Niva Misra

5

1 reference

25 August 2017

Nikhil Holla

6

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25 August 2017

Michelle Duffourc

7

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25 August 2017

Guha Krishnaswamy

8

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25 August 2017

language of work or name

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23 November 2011

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Clinical and Molecular Allergy

25 August 2017

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25 August 2017

9

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25 August 2017

13

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https://scigraph.springernature.com/pub.10.1186/1476-7961-9-13

25 August 2017

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cites work

Large contiguous gene deletions in Sjögren-Larsson syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267648

Chronic granulomatous disease: a review of the infectious and inflammatory complications

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267648

Inefficient dystrophin expression after cord blood transplantation in Duchenne muscular dystrophy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267648

Molecular defects in the mannose binding lectin pathway in dermatological disease: Case report and literature review.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267648

Complex management of a patient with a contiguous Xp11.4 gene deletion involving ornithine transcarbamylase: a role for detailed molecular analysis in complex presentations of classical diseases

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267648

McLeod syndrome: a neurohaematological disorder

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267648

The value of DNA analysis for antigens of the Kell and Kx blood group systems

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267648

Chronic granulomatous disease.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267648

Acanthocytosis and neurological disorders.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267648

Autosomal recessive chronic granulomatous disease with absence of the 67-kD cytosolic NADPH oxidase component: identification of mutation and detection of carriers.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267648

Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267648

Localization of the McLeod locus (XK) within Xp21 by deletion analysis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267648

Chronic granulomatous disease of childhood: clinical, pathological, biochemical, molecular, and genetic aspects of the disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267648

Autosomal recessive chronic granulomatous disease caused by deletion at a dinucleotide repeat

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267648

Fine mapping of the McLeod locus (XK) to a 150-380-kb region in Xp21

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267648

McLeod syndrome: a distinct form of neuroacanthocytosis. Report of two cases and literature review with emphasis on neuromuscular manifestations

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267648

Chronic granulomatous disease, the McLeod syndrome, and the Kell blood groups

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267648

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267648

Erythrocyte morphology in genetic defects of the Rh and Kell blood group systems

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267648

Analysis of three deletion breakpoints in Xp21.1 and the further localization of RP3.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267648

Acanthocytosis in chronic septic granulomatosis: the McLeod syndrome

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267648

The first example of the McLeod phenotype in a Japanese baby with chronic granulomatous disease

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267648

Genetic analysis of contiguous X-chromosome deletion syndrome encompassing the BTK and TIMM8A genes.

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267648

Chronic granulomatous disease: from genetic defect to clinical presentation

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267648

Gene deletion in a patient with chronic granulomatous disease and McLeod syndrome: fine mapping of the Xk gene locus

1 September 2018

1 reference

12 December 2020

Kx: its relationship to chronic granulomatous disease and genetic linkage with Xg

1 reference

12 December 2020

Xp21 DNA microdeletion in a patient with chronic granulomatous disease, retinitis pigmentosa, and McLeod phenotype

1 reference

12 December 2020

Three Mendelian disorders (chronic granulomatous disease, retinitis pigmentosa, ornithine transcarbamylase deficiency) in a young woman with an X chromosome deletion, del(X)(p11.4p21.1)

1 reference

12 December 2020

[Kell blood group system and antibodies]

1 reference

12 December 2020

Chronic granulomatous disease, Kx negative neutrophils and linkage with Xg

1 reference

12 December 2020

Chronic granulomatous disease

1 reference

12 December 2020

Chronic granulomatous disease in an adult male: A proposed X-linked defect

1 reference

12 December 2020

Human granulocytes lack red cell Kx antigen

1 reference

12 December 2020

The molecular genetics of blood group polymorphism

1 reference

12 December 2020

First example of anti-Kx in a person with the McLeod phenotype and without chronic granulomatous disease

1 reference

12 December 2020

The Kell blood group, Kx antigen, and chronic granulomatous disease

1 reference

12 December 2020

Chronic granulomatous disease, Kx antigen and the Kell blood groups

1 reference

12 December 2020

Identifiers

DOI

10.1186/1476-7961-9-13

1 reference

Dimensions Publication ID

25 August 2017

0 references

1 reference

25 August 2017

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