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Biallelic mutations in calcium release activated channel regulator 2A (CRACR2A ) cause a primary immunodeficiency disorder

eLife, 2021-12, Vol.10

2021

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A Case of Adult-Onset Still's Disease Caused by a Novel Splicing Mutation in TNFAIP3 Successfully Treated With Tocilizumab

Frontiers in immunology, 2018-07, Vol.9, p.1527-1527

2018

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Novel Case of Tripeptidyl Peptidase 2 Deficiency Associated with Mild Clinical Phenotype

Journal of clinical immunology, 2021-07, Vol.41 (5), p.1123-1127

2021

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Molecular analysis of sixteen unrelated factor XIIIA deficient families from south‐east of Iran

British journal of haematology, 2008-03, Vol.140 (5), p.581-584

2008

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An observational study on the expression levels of MDM2 and MDMX proteins, and associated effects on P53 in a series of human liposarcomas

BMC clinical pathology, 2013-12, Vol.13 (1), p.32-32, Article 32

2013

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Rapid visualisation of microarray copy number data for the detection of structural variations linked to a disease phenotype

PloS one, 2012-08, Vol.7 (8), p.e43466-e43466

2012

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Delayed umbilical bleeding--a presenting feature for factor XIII deficiency: clinical features, genetics, and management

Pediatrics (Evanston), 2002-02, Vol.109 (2), p.E32

2002

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The Arg703Trp missense mutation in F13A1 is a de novo event

British journal of haematology, 2009-07, Vol.146 (1), p.118-120

2009

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Predicting the Occurrence of Variants in RAG1 and RAG2

Journal of clinical immunology, 2019-10, Vol.39 (7), p.688-701

2019

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Bialellic Mutations in Tetratricopeptide Repeat Domain 7A (TTC7A) Cause Common Variable Immunodeficiency-Like Phenotype with Enteropathy

Journal of clinical immunology, 2017-10, Vol.37 (7), p.617-622

2017

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A Report of Novel STIM1 Deficiency and 6-Year Follow-Up of Two Previous Cases Associated with Mild Immunological Phenotype

Journal of clinical immunology, 2019-04, Vol.39 (3), p.249-256

2019

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Molecular basis of inherited factor XIII deficiency: identification of multiple mutations provides insights into protein function

British journal of haematology, 1995-11, Vol.91 (3), p.728-735

1995

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Factor XIII deficiency causing mutation, Ser295Arg, in exon 7 of the factor XIIIA gene

Thrombosis and haemostasis, 2000-10, Vol.84 (4), p.591

2000

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FACTOR XIII DEFICIENCY

British journal of haematology, 1999-12, Vol.107 (3), p.468-484

1999

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The Leu564 factor XIIIA variant results in significantly lower plasma factor XIII levels than the Pro564 variant

Thrombosis and haemostasis, 1999-10, Vol.82 (4), p.1368

1999

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Prevalence and clinical challenges among adult primary immunodeficiency patients with RAG deficiency

Journal of allergy and clinical immunology, 2018-03, Vol.141 (6), p.2303-2306

2018

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New splicing mutations in the human factor XIIIA gene, each producing multiple mutant transcripts of varying abundance

Thrombosis and haemostasis, 1998-06, Vol.79 (6), p.1151

1998

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Novel human pathological mutations. Gene symbol: F13A1. Disease: Factor XIII Deficiency

Human genetics, 2010-01, Vol.127 (1), p.115-116

2010

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Genotype/Phenotype Correlations for Coagulation Factor XIII: Specific Normal Polymorphisms Are Associated With High or Low Factor XIII Specific Activity

Blood, 1999-02, Vol.93 (3), p.897-905

1999

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P60. Pilot study: Profiling liposarcomas in relation to the P53-MDM axis clarifies the important interactions of mdm proteins on the bioavailability of p53

European journal of surgical oncology, 2012-11, Vol.38 (11), p.1122-1122

2012

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Genotype/Phenotype Correlations for Coagulation Factor XIII: Specific Normal Polymorphisms Are Associated With High or Low Factor XIII Specific Activity

Blood, 1999-02, Vol.93 (3), p.897-905

1999

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Identification of autosomal recessive disease loci using out-bred nuclear families

Human mutation, 2012-02, Vol.33 (2), p.338-342

2012

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Factor XIII deficiency: new nonsense and deletion mutations in the human factor XIIIA gene

Haematologica (Roma), 2005-12, Vol.90 (12), p.1718-1720

2005

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Identification of a Large Deletion, Spanning Exons 4 to 11 of the Human Factor XIIIA Gene, in a Factor XIII-Deficient Family

Blood, 1998-01, Vol.91 (1), p.149-153

1998

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Biallelic mutations in calcium release activated channel regulator 2A (CRACR2A ) cause a primary immunodeficiency disorder

Germline TET2 loss of function causes childhood immunodeficiency and lymphoma

A Case of Adult-Onset Still's Disease Caused by a Novel Splicing Mutation in TNFAIP3 Successfully Treated With Tocilizumab

Novel Case of Tripeptidyl Peptidase 2 Deficiency Associated with Mild Clinical Phenotype

Molecular analysis of sixteen unrelated factor XIIIA deficient families from south‐east of Iran

An observational study on the expression levels of MDM2 and MDMX proteins, and associated effects on P53 in a series of human liposarcomas

Rapid visualisation of microarray copy number data for the detection of structural variations linked to a disease phenotype

Delayed umbilical bleeding--a presenting feature for factor XIII deficiency: clinical features, genetics, and management

The Arg703Trp missense mutation in F13A1 is a de novo event

Predicting the Occurrence of Variants in RAG1 and RAG2

Bialellic Mutations in Tetratricopeptide Repeat Domain 7A (TTC7A) Cause Common Variable Immunodeficiency-Like Phenotype with Enteropathy

A Report of Novel STIM1 Deficiency and 6-Year Follow-Up of Two Previous Cases Associated with Mild Immunological Phenotype

Molecular basis of inherited factor XIII deficiency: identification of multiple mutations provides insights into protein function

Factor XIII deficiency causing mutation, Ser295Arg, in exon 7 of the factor XIIIA gene

FACTOR XIII DEFICIENCY

The Leu564 factor XIIIA variant results in significantly lower plasma factor XIII levels than the Pro564 variant

Prevalence and clinical challenges among adult primary immunodeficiency patients with RAG deficiency

New splicing mutations in the human factor XIIIA gene, each producing multiple mutant transcripts of varying abundance

Novel human pathological mutations. Gene symbol: F13A1. Disease: Factor XIII Deficiency

Genotype/Phenotype Correlations for Coagulation Factor XIII: Specific Normal Polymorphisms Are Associated With High or Low Factor XIII Specific Activity

P60. Pilot study: Profiling liposarcomas in relation to the P53-MDM axis clarifies the important interactions of mdm proteins on the bioavailability of p53

Genotype/Phenotype Correlations for Coagulation Factor XIII: Specific Normal Polymorphisms Are Associated With High or Low Factor XIII Specific Activity

Identification of autosomal recessive disease loci using out-bred nuclear families

Factor XIII deficiency: new nonsense and deletion mutations in the human factor XIIIA gene

Identification of a Large Deletion, Spanning Exons 4 to 11 of the Human Factor XIIIA Gene, in a Factor XIII-Deficient Family

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