(Q34571510)

3 August 2017

title

Carrier detection in X-linked severe combined immunodeficiency based on patterns of X chromosome inactivation (English)

1 reference

severe combined immunodeficiency

3 August 2017

main subject

1 reference

J M Puck

1

1 reference

3 August 2017

R L Nussbaum

series ordinal

2

1 reference

3 August 2017

M E Conley

series ordinal

3

1 reference

3 August 2017

language of work or name

English

0 references

publication date

1 May 1987

1 reference

Journal of Clinical Investigation

3 August 2017

published in

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3 August 2017

volume

79

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3 August 2017

issue

5

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3 August 2017

page(s)

1395-1400

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Sequential tests for the detection of linkage

3 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=424401

Human hypoxanthine-guanine phosphoribosyltransferase. Demonstration of structural variants in lymphoblastoid cells derived from patients with a deficiency of the enzyme

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=424401

Deletion and amplification of the HGPRT locus in Chinese hamster cells

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=424401

Adrenoleukodystrophy: evidence for X linkage, inactivation, and selection favoring the mutant allele in heterozygous cells

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=424401

Unbalanced X chromosome mosaicism in B cells of mice with X-linked immunodeficiency

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=424401

Genetic deficiencies of adenosine deaminase and purine nucleoside phosphorylase: overview, genetic heterogeneity and therapy.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=424401

Diagnosis and classification of severe combined immunodeficiency disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=424401

A strategy to reveal high-frequency RFLPs along the human X chromosome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=424401

A three-allele restriction-fragment-length polymorphism at the hypoxanthine phosphoribosyltransferase locus in man.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=424401

Construction of a genetic linkage map in man using restriction fragment length polymorphisms

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=424401

Human natural killer cells: biologic and pathologic aspects

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=424401

Carrier detection in haemophilia B using two further intragenic restriction fragment length polymorphisms

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=424401

Two anonymous X-specific human sequences detecting restriction fragment length polymorphisms in region Xq26?qter

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=424401

Hemizygous expression of glucose-6-phosphate dehydrogenase in erythrocytes of heterozygotes for the Lesch-Nyhan syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=424401

X inactivation patterns in two syndromes with probable X-linked dominant, male lethal inheritance

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=424401

Rapid transfer of DNA from agarose gels to nylon membranes

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=424401

Report of the Committee on the Genetic Constitution of the X and Y Chromosomes

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=424401

Development of immunity in human severe primary T cell deficiency following haploidentical bone marrow stem cell transplantation.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=424401

Expression of the fragile (X) chromosome in an interspecific somatic cell hybrid

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=424401

XX T cells and XY B cells in two patients with severe combined immune deficiency

27 October 2018

1 reference

12 December 2020

In vitro regulation of IgA subclass synthesis. II. The source of IgA2 plasma cells

1 reference

12 December 2020

Expression of the gene defect in X-linked agammaglobulinemia

1 reference

12 December 2020

Presence of plasma cells and gamma-1-M-globulin synthesis in a patient with thymic alymphoplasia

1 reference

12 December 2020

Allelic exclusion of glucose-6-phosphate dehydrogenase in platelets and T lymphocytes from a Wiskott-Aldrich syndrome carrier

1 reference

12 December 2020

Wiskott-Aldrich syndrome: cellular impairments and their implication for carrier detection

1 reference

12 December 2020

Identifiers

DOI

10.1172/JCI112967

1 reference

3 August 2017

1 reference

3 August 2017

1 reference