Clinical and molecular analysis of patients with defects in micro heavy chain gene. (Q34798196)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12370281%20AND%20SRC:MED&resulttype=core&format=json

13 December 2019

title

Clinical and molecular analysis of patients with defects in micro heavy chain gene (English)

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13 December 2019

6

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Smith Cie

7

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8

Lennart Hammarstrom

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4

Nuria Matamoros

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13 December 2019

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Bernd H Belohradsky

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13 December 2019

author name string

Eduardo Lopez Granados

1

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13 December 2019

Andrea S Porpiglia

2

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13 December 2019

Mary Beth Hogan

3

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13 December 2019

Silvia Krasovec

5

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13 December 2019

Janne Bjorkander

9

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13 December 2019

G Fontan Casariego

11

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13 December 2019

M C Garcia Rodriguez

12

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13 December 2019

Mary Ellen Conley

13

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13 December 2019

language of work or name

English

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publication date

1 October 2002

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Journal of Clinical Investigation

13 December 2019

published in

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13 December 2019

volume

110

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13 December 2019

issue

7

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13 December 2019

page(s)

1029-1035

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Immunoglobulin heavy chain expression shapes the B cell receptor repertoire in human B cell development

13 December 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=151150

Genetic defect in human X-linked agammaglobulinemia impedes a maturational evolution of pro-B cells into a later stage of pre-B cells in the B-cell differentiation pathway

8 July 2018

1 reference

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An essential role for BLNK in human B cell development

8 July 2018

1 reference

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Mutations in Igalpha (CD79a) result in a complete block in B-cell development

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=151150

The complete nucleotide sequence of the human immunoglobulin heavy chain variable region locus

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=151150

Mutations in btk in patients with presumed X-linked agammaglobulinemia

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=151150

Mutations in the human lambda5/14.1 gene result in B cell deficiency and agammaglobulinemia

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=151150

Sequence of the human immunoglobulin diversity (D) segment locus: a systematic analysis provides no evidence for the use of DIR segments, inverted D segments, "minor" D segments or D-D recombination

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=151150

Neutropenia in X-linked agammaglobulinemia.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=151150

Structure and physical map of 64 variable segments in the 3'0.8-megabase region of the human immunoglobulin heavy-chain locus

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=151150

Novel human immunoglobulin heavy chain constant region gene deletion haplotypes characterized by pulsed-field electrophoresis.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=151150

Arrangement of human immunoglobulin heavy chain constant region genes implies evolutionary duplication of a segment containing gamma, epsilon and alpha genes

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=151150

Two mRNAs can be produced from a single immunoglobulin mu gene by alternative RNA processing pathways

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=151150

Multiple DNA fragment polymorphisms associated with immunoglobulin mu chain switch-like regions in man.

8 July 2018

1 reference

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GM and INV factors in subclasses of human IgG.

8 July 2018

1 reference

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Organization of human immunoglobulin heavy chain diversity gene loci

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=151150

Physical linkage of a human immunoglobulin heavy chain variable region gene segment to diversity and joining region elements

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=151150

Complete physical map of the human immunoglobulin heavy chain constant region gene complex

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=151150

The physical organization of the human immunoglobulin heavy chain gene complex

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=151150

Physical map of the 3' region of the human immunoglobulin heavy chain locus: clustering of autoantibody-related variable segments in one haplotype

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=151150

Nonuniform linkage disequilibrium within a 1,500-kb region of the human immunoglobulin heavy-chain complex

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=151150

Mutations in the mu heavy-chain gene in patients with agammaglobulinemia

8 July 2018

1 reference

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A map of the human immunoglobulin VH locus completed by analysis of the telomeric region of chromosome 14q.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=151150

Extensive allelic sequence variation in the J region of the human immunoglobulin heavy chain gene locus.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=151150

The Sensitivity of Single-Strand Conformation Polymorphism Analysis for the Detection of Single Base Substitutions

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=151150

Females with a disorder phenotypically identical to X-linked agammaglobulinemia

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=151150

B cells in patients with X-linked agammaglobulinemia

9 December 2018

1 reference

12 December 2020

Pulsed-field gel analysis of human immunoglobulin heavy-chain constant region gene deletions reveals the extent of unmapped regions within the locus

1 reference

12 December 2020

Screening of genomic DNA to identify mutations in the gene for Bruton's tyrosine kinase

1 reference

12 December 2020

Variability of the immunoglobulin heavy chain constant region locus: a population study

1 reference

12 December 2020

The G4 gene is duplicated in 44% of human immunoglobulin heavy chain constant region haplotypes

1 reference

12 December 2020

Three cases of agammaglobulinemia; a clinical, genetic and physical chemical contribution to the knowledge of protein metabolism

1 reference

12 December 2020

Genetic Marker of the γA2 Subgroup of γA Immunoglobulins

1 reference

12 December 2020

Identifiers

DOI

10.1172/JCI0215658

1 reference

PubMed publication ID

4 August 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12370281%20AND%20SRC:MED&resulttype=core&format=json

13 December 2019

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13 December 2019

PubMed publication ID

12370281

1 reference