相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。De novo 13q12.3-q14.11 Deletion Involving BRCA2 Gene in a Patient With Developmental Delay, Elevated IgM Levels, Transient Ataxia, and Cerebellar Hypoplasia, Mimicking an A-T like Phenotype
Emilia Cirillo et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2012)
Human MSH6 Deficiency Is Associated with Impaired Antibody Maturation
Pauline Gardes et al.
JOURNAL OF IMMUNOLOGY (2012)
Insights into the B cell specific process of immunoglobulin class switch recombination
Sven Kracker et al.
IMMUNOLOGY LETTERS (2011)
Primary immunodefciency diseases: an update on the classification from the International Union of Immunological Societies Expert Committee for Priary Immunodeficiency
Waleed Al-Herz et al.
FRONTIERS IN IMMUNOLOGY (2011)
Clinical and Laboratory Findings in Hyper-IgM Syndrome with Novel CD40L and AICDA Mutations
Asghar Aghamohammadi et al.
JOURNAL OF CLINICAL IMMUNOLOGY (2009)
Ataxia-Telangiectasia With Hyper-IgM and Wilms Tumor: Fatal Reaction to Irradiation
Barbara Maria Pietrucha et al.
JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY (2009)
Mechanism and regulation of class switch recombination
Janet Stavnezer et al.
ANNUAL REVIEW OF IMMUNOLOGY (2008)
Human PMS2 deficiency is associated with impaired immunoglobulin class switch recombination
Sophie Peron et al.
JOURNAL OF EXPERIMENTAL MEDICINE (2008)
Different clinical and immunological presentation of ataxia-telangiectasia within the same family
A. Soresina et al.
NEUROPEDIATRICS (2008)
Primary immunodeficiency diseases:: An update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee
Raif S. Geha et al.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2007)
Ataxia-telangiectasia in Iran: Clinical and laboratory features of 104 patients
Mostafa Moin et al.
PEDIATRIC NEUROLOGY (2007)
Defects of class-switch recombination
LD Notarangelo et al.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2006)
Immunodeficiency and infections in ataxia-telangiectasia
A Nowak-Wegrzyn et al.
JOURNAL OF PEDIATRICS (2004)
ATM is required for efficient recombination between immunoglobulin switch regions
B Reina-San-Martin et al.
JOURNAL OF EXPERIMENTAL MEDICINE (2004)
Immunoglobulin class switch recombination is impaired in Atm-deficient mice
JM Lumsden et al.
JOURNAL OF EXPERIMENTAL MEDICINE (2004)
Lymphocytic interstitial pneumonitis, elevated IgM concentration, and hepatosplenomegaly in ataxia-telangiectasia
N Tangsinmankong et al.
JOURNAL OF PEDIATRICS (2001)
Novel mutations and defective protein kinase C activation of T-lymphocytes in ataxia telangiectasia
MA García-Pérez et al.
CLINICAL AND EXPERIMENTAL IMMUNOLOGY (2001)
The pathogenesis of ataxia-telangiectasia - Learning from a Rosetta Stone
RA Gatti et al.
CLINICAL REVIEWS IN ALLERGY & IMMUNOLOGY (2001)
The many substrates and functions of ATM
MB Kastan et al.
NATURE REVIEWS MOLECULAR CELL BIOLOGY (2000)
分享论文
