(Q52575536)

3 May 2018

http://europepmc.org/abstract/MED/29675737

title

Use of Genetic Testing for Primary Immunodeficiency Patients. (English)

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3 May 2018

http://europepmc.org/abstract/MED/29675737

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10 June 2020

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10 June 2020

Jennifer R Heimall

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10 June 2020

David Hagin

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10 June 2020

Hillary S Hernandez-Trujillo

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10 June 2020

Yuval Tan

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10 June 2020

Lisa Kobrynski

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10 June 2020

Kenneth Paris

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10 June 2020

Troy R Torgerson

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10 June 2020

James W Verbsky

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10 June 2020

Richard L Wasserman

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10 June 2020

Elena W Y Hsieh

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10 June 2020

Jack J Blessing

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10 June 2020

Janet S Chou

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10 June 2020

Monica G Lawrence

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10 June 2020

Rebecca A Marsh

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10 June 2020

Sergio D Rosenzweig

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10 June 2020

Jordan S Orange

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10 June 2020

Roshini S Abraham

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10 June 2020

publication date

19 April 2018

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3 May 2018

http://europepmc.org/abstract/MED/29675737

published in

Journal of Clinical Immunology

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10 June 2020

volume

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10 June 2020

issue

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10 June 2020

page(s)

320-329

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DNA sequencing with chain-terminating inhibitors

10 June 2020

cites work

1 reference

12 December 2020

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

1 reference

12 December 2020

Carrier and prenatal diagnosis of X-linked severe combined immunodeficiency: mutation detection methods and utilization

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12 December 2020

Prenatal molecular diagnosis of Wiskott-Aldrich syndrome by direct mutation analysis

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12 December 2020

Chronic granulomatous disease. Report on a national registry of 368 patients

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12 December 2020

Tracking gene expression in primary immunodeficiencies

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12 December 2020

Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation

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12 December 2020

As genetic tests move into the mainstream, challenges await for doctors and patients

1 reference

12 December 2020

Cutaneous and other lupus-like symptoms in carriers of X-linked chronic granulomatous disease: incidence and autoimmune serology

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12 December 2020

Chronic granulomatous disease: the European experience

1 reference

12 December 2020

Thymic output, T-cell diversity, and T-cell function in long-term human SCID chimeras

1 reference

12 December 2020

Autoinflammation: the prominent role of IL-1 in monogenic autoinflammatory diseases and implications for common illnesses

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12 December 2020

Insertional translocation detected using FISH confirmation of array-comparative genomic hybridization (aCGH) results.

1 reference

12 December 2020

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies

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12 December 2020

Uncovering the roles of rare variants in common disease through whole-genome sequencing

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12 December 2020

Bone marrow transplantation and alternatives for adenosine deaminase deficiency

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12 December 2020

Highly Variable Clinical Phenotypes of Hypomorphic RAG1 Mutations

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12 December 2020

Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities

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12 December 2020

Thrombocytopenic syndromes masquerading as childhood immune thrombocytopenic purpura

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12 December 2020

Residual NADPH oxidase and survival in chronic granulomatous disease

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12 December 2020

Recurrence, submicroscopic complexity, and potential clinical relevance of copy gains detected by array CGH that are shown to be unbalanced insertions by FISH.

1 reference

12 December 2020

Genome-wide association identifies diverse causes of common variable immunodeficiency

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12 December 2020

Copy number variation of the gene NCF1 is associated with rheumatoid arthritis

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12 December 2020

A novel immunodeficiency disorder characterized by genetic amplification of interleukin 25.

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12 December 2020

Post-transplantation B cell function in different molecular types of SCID

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12 December 2020

Use of whole exome and genome sequencing in the identification of genetic causes of primary immunodeficiencies

1 reference

12 December 2020

Comparison of chromosome analysis and chromosomal microarray analysis: what is the value of chromosome analysis in today's genomic array era?

1 reference

12 December 2020

B-cell reconstitution for SCID: should a conditioning regimen be used in SCID treatment?

1 reference

12 December 2020

Clinical whole-exome sequencing for the diagnosis of mendelian disorders

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12 December 2020

EXCAVATOR: detecting copy number variants from whole-exome sequencing data

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12 December 2020

Burden of copy number variation in common variable immunodeficiency

1 reference

12 December 2020

Using XHMM Software to Detect Copy Number Variation in Whole-Exome Sequencing Data

1 reference

12 December 2020

Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4

1 reference

12 December 2020

Guidelines for genetic studies in single patients: lessons from primary immunodeficiencies

1 reference

12 December 2020

Assessing copy number from exome sequencing and exome array CGH based on CNV spectrum in a large clinical cohort.

1 reference

12 December 2020

A copy number variation map of the human genome

1 reference

12 December 2020

Clinical application of whole-genome sequencing in patients with primary immunodeficiency.

1 reference

12 December 2020

Radiation-sensitive severe combined immunodeficiency: The arguments for and against conditioning before hematopoietic cell transplantation--what to do?

1 reference

12 December 2020

Application of whole genome and RNA sequencing to investigate the genomic landscape of common variable immunodeficiency disorders

1 reference

12 December 2020

Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapy

1 reference

12 December 2020

Practice parameter for the diagnosis and management of primary immunodeficiency.

1 reference

12 December 2020

Current Status of Testing for Microdeletion Syndromes and Rare Autosomal Trisomies Using Cell-Free DNA Technology.

1 reference

12 December 2020

DCLRE1C (ARTEMIS) mutations causing phenotypes ranging from atypical severe combined immunodeficiency to mere antibody deficiency.

1 reference

12 December 2020

The effects of prenatal genetic analysis on fetuses born to carrier mothers with primary immunodeficiency diseases

1 reference

12 December 2020

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

1 reference

12 December 2020

Current Knowledge and Priorities for Future Research in Late Effects after Hematopoietic Stem Cell Transplantation (HCT) for Severe Combined Immunodeficiency Patients: A Consensus Statement from the Second Pediatric Blood and Marrow Transplant Conso

1 reference

12 December 2020

10.1007/S10875-018-0489-8

Identifiers

DOI

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29675737%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

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