(Q34155993)

31 July 2017

title

A custom 148 gene-based resequencing chip and the SNP explorer software: new tools to study antibody deficiency (English)

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31 July 2017

4

Meredith Yeager

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Jordan S. Orange

14

object named as

Jordan S Orange

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31 July 2017

Julie E Niemela

10

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Stephen Chanock

20

object named as

Stephen J Chanock

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31 July 2017

13

Gulbu Uzel

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31 July 2017

3

Ivona Aksentijevich

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31 July 2017

19

Daniel Kastner

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31 July 2017

17

Hans D Ochs

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31 July 2017

16

Luigi Notarangelo

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31 July 2017

11

Troy R Torgerson

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31 July 2017

18

Thomas Fleisher

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31 July 2017

Hong-Ying Wang

1

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31 July 2017

Vivek Gopalan

2

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31 July 2017

Chi Adrian Ma

5

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31 July 2017

Yasmin Ali Mohamoud

6

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31 July 2017

Mariam Quinones

7

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31 July 2017

Casey Matthews

8

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31 July 2017

Joseph Boland

9

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31 July 2017

Silvia Giliani

12

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31 July 2017

Ralph Shapiro

15

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31 July 2017

Ashish Jain

21

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31 July 2017

publication date

1 September 2010

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31 July 2017

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31 July 2017

volume

31

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31 July 2017

issue

9

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31 July 2017

page(s)

1080-1088

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High-throughput detection of mutations responsible for childhood hearing loss using resequencing microarrays

31 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=2945728

High-resolution, high-throughput HLA genotyping by next-generation sequencing

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2945728

Act1, a U-box E3 ubiquitin ligase for IL-17 signaling.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2945728

B-cell activating factor receptor deficiency is associated with an adult-onset antibody deficiency syndrome in humans.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2945728

Primary B cell immunodeficiencies: comparisons and contrasts

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2945728

Generations of sequencing technologies

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2945728

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2945728

IKBKG (nuclear factor-kappa B essential modulator) mutation can be associated with opportunistic infection without impairing Toll-like receptor function

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2945728

Direct selection of human genomic loci by microarray hybridization

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2945728

Promiscuous mutations activate the noncanonical NF-kappaB pathway in multiple myeloma.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2945728

Genome-wide analysis of DNA copy number changes and LOH in CLL using high-density SNP arrays.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2945728

An antibody-deficiency syndrome due to mutations in the CD19 gene

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2945728

TACI is mutant in common variable immunodeficiency and IgA deficiency

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2945728

Specific NEMO mutations impair CD40-mediated c-Rel activation and B cell terminal differentiation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2945728

Act1, a negative regulator in CD40- and BAFF-mediated B cell survival

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2945728

The immunological synapse for B-cell memory: the role of the ICOS and its ligand for the longevity of humoral immunity

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2945728

Role of the adaptor protein CIKS in the activation of the IKK complex

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2945728

Hyper-IgM syndrome type 4 with a B lymphocyte-intrinsic selective deficiency in Ig class-switch recombination

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2945728

Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2945728

Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2945728

Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2)

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2945728

Resequencing and mutational analysis using oligonucleotide microarrays

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2945728

Microarray-based genomic selection for high-throughput resequencing.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2945728

Mutations in TNFRSF13B encoding TACI are associated with common variable immunodeficiency in humans.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2945728

Molecular analysis of a large cohort of patients with the hyper immunoglobulin M (IgM) syndrome

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2945728

Human uracil-DNA glycosylase deficiency associated with profoundly impaired immunoglobulin class-switch recombination

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2945728

CD40 ligand gene defects responsible for X-linked hyper-IgM syndrome

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2945728

A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2945728

Mutational Analysis of Human BAFF Receptor TNFRSF13C (BAFF-R) in Patients with Common Variable Immunodeficiency

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2945728

Sequence Analysis of TNFRSF13b, Encoding TACI, in Patients with Systemic Lupus Erythematosus

28 October 2018

1 reference

12 December 2020

Development of a high-throughput microarray-based resequencing system for neurological disorders and its application to molecular genetics of amyotrophic lateral sclerosis

1 reference

12 December 2020

Targeted next-generation sequencing by specific capture of multiple genomic loci using low-volume microfluidic DNA arrays

1 reference

12 December 2020

The CD40 ligand, gp39, is defective in activated T cells from patients with X-linked hyper-IgM syndrome

1 reference

12 December 2020

Identifiers

DOI

10.1002/HUMU.21322

1 reference

31 July 2017

1 reference

31 July 2017

1 reference