(Q33675009)

28 July 2017

title

Trisomy X in a female member of a family with X linked severe combined immunodeficiency: implications for carrier diagnosis (English)

1 reference

severe combined immunodeficiency

28 July 2017

main subject

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Lester T

1

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28 July 2017

de Alwis M

2

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28 July 2017

Clark PA

3

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28 July 2017

Jones AM

4

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28 July 2017

Katz F

5

1 reference

28 July 2017

Levinsky RJ

6

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28 July 2017

Kinnon C

7

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28 July 2017

language of work or name

English

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publication date

1 September 1994

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Journal of Medical Genetics

28 July 2017

published in

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28 July 2017

volume

31

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28 July 2017

issue

9

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28 July 2017

page(s)

717-720

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Interleukin-2 receptor gamma chain mutation results in X-linked severe combined immunodeficiency in humans

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050084

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050084

The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050084

Fine mapping of the human SCIDX1 locus at Xq12-13.1.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050084

Refinement of linkage of human severe combined immunodeficiency (SCIDX1) to polymorphic markers in Xq13.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050084

Interleukin-2 (IL-2) receptor gamma chain mutations in X-linked severe combined immunodeficiency disease result in the loss of high-affinity IL-2 receptor binding

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050084

Mutation analysis of the Bruton's tyrosine kinase gene in X-linked agammaglobulinemia: identification of a mutation which affects the same codon as is altered in immunodeficient xid mice

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050084

Deletion mapping of the DXS986, DXS995, and DXS1002 loci defines their order within Xq21

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050084

The genetic linkage map of the human X chromosome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050084

Carrier detection in the Wiskott Aldrich syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050084

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050084

Linkage of PGK1 to X-linked severe combined immunodeficiency (IMD4) allows predictive testing in families with no surviving male

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050084

Report of the committee on the genetic constitution of the X chromosome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050084

Physical mapping of 60 DNA markers in the p21.1 → q21.3 region of the human X chromosome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050084

Dinucleotide repeat polymorphism at the DXS441 locus

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050084

Delineation of the dystonia-parkinsonism syndrome locus in Xq13

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050084

Molecular genetics and neuropathology of Charcot-Marie-Tooth disease type 1A

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050084

Use of X chromosome inactivation analysis to establish carrier status for X-linked severe combined immunodeficiency

21 June 2018

1 reference

12 December 2020

Carrier detection in typical and atypical X-linked agammaglobulinemia

1 reference

12 December 2020

Clustering of hypervariable minisatellites in the proterminal regions of human autosomes

1 reference

12 December 2020

Carrier detection in Wiskott-Aldrich syndrome: combined use of M27 beta for X-inactivation studies and as a linked probe

1 reference

12 December 2020

Physical mapping in the region of human Xq12-21.1 using pulsed field gel electrophoresis

1 reference

12 December 2020

Leukaemia arising in donor cells following allogeneic bone marrow transplantation for beta thalassaemia demonstrated by immunological, DNA and molecular cytogenetic analysis

1 reference

12 December 2020

Mutation detection in the X-linked agammaglobulinemia gene, BTK, using single strand conformation polymorphism analysis

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.31.9.717

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28 July 2017

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28 July 2017

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