(Q40068669)

17 September 2017

title

Mutations causing severe combined immunodeficiency: detection with a custom resequencing microarray (English)

1 reference

severe combined immunodeficiency

17 September 2017

main subject

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6

Jennifer M Puck

1 reference

17 September 2017

Tonya Lebet

1

1 reference

17 September 2017

Richard Chiles

2

1 reference

17 September 2017

Amy P Hsu

3

1 reference

17 September 2017

Elaine S Mansfield

4

1 reference

17 September 2017

Janet A Warrington

5

1 reference

17 September 2017

language of work or name

English

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publication date

1 August 2008

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17 September 2017

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17 September 2017

volume

10

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17 September 2017

issue

8

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17 September 2017

page(s)

575-585

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Molecular defects in human severe combined immunodeficiency and approaches to immune reconstitution

17 September 2017

cites work

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31818063BC

Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31818063BC

Development of population-based newborn screening for severe combined immunodeficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31818063BC

Population-based newborn screening for severe combined immunodeficiency: steps toward implementation

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31818063BC

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31818063BC

The interleukin-2 receptor gamma chain maps to Xq13.1 and is mutated in X-linked severe combined immunodeficiency, SCIDX1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31818063BC

IL2RGbase: a database of gamma c-chain defects causing human X-SCID

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31818063BC

Efficient detection of thirty-seven new IL2RG mutations in human X-linked severe combined immunodeficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31818063BC

IL-7 receptor deficient SCID with a unique intronic mutation and post-transplant autoimmunity due to chronic GVHD.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31818063BC

A founder mutation in Artemis, an SNM1-like protein, causes SCID in Athabascan-speaking Native Americans

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31818063BC

New developments in high-throughput resequencing and variation detection using high density microarrays

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31818063BC

High throughput genetic analysis of congenital myasthenic syndromes using resequencing microarrays

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31818063BC

Sequencing arrays for screening multiple genes associated with early-onset human retinal degenerations on a high-throughput platform

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31818063BC

Novel resequencing chip customized to diagnose mutations in patients with inherited syndromes of intrahepatic cholestasis

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31818063BC

Resequencing and mutational analysis using oligonucleotide microarrays

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31818063BC

10.1097/GIM.0B013E31818063BC

21 January 2018

Identifiers

DOI

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Dimensions Publication ID

17 September 2017

1013905635

0 references

1 reference