Published in Immunol Res on January 01, 2008
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Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations. Am J Hum Genet (2008) 1.41
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Exaggerated behavioral phenotypes in Fmr1/Fxr2 double knockout mice reveal a functional genetic interaction between Fragile X-related proteins. Hum Mol Genet (2006) 1.38
Chromosomal microarray analysis (CMA) detects a large X chromosome deletion including FMR1, FMR2, and IDS in a female patient with mental retardation. Am J Med Genet A (2007) 1.37
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Reversible severe combined immunodeficiency phenotype secondary to a mutation of the proton-coupled folate transporter. Clin Immunol (2009) 1.26
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Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias. J Allergy Clin Immunol (2013) 1.25
Altered hippocampal synaptic plasticity in the FMR1 gene family knockout mouse models. J Neurophysiol (2009) 1.24
Immature B cells preferentially switch to IgE with increased direct Sμ to Sε recombination. J Exp Med (2011) 1.24
Improving cellular therapy for primary immune deficiency diseases: recognition, diagnosis, and management. J Allergy Clin Immunol (2009) 1.23
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Social behavior in Fmr1 knockout mice carrying a human FMR1 transgene. Behav Neurosci (2008) 1.21
Defect of regulatory T cells in patients with Omenn syndrome. J Allergy Clin Immunol (2010) 1.21
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Identification of an infant with severe combined immunodeficiency by newborn screening. J Allergy Clin Immunol (2010) 1.13
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AFQ056, a new mGluR5 antagonist for treatment of fragile X syndrome. Neurobiol Dis (2011) 1.09
Mutational analysis of human BAFF receptor TNFRSF13C (BAFF-R) in patients with common variable immunodeficiency. J Clin Immunol (2005) 1.09
Somatic and germline instability of the ATTCT repeat in spinocerebellar ataxia type 10. Am J Hum Genet (2004) 1.08
Second-site mutation in the Wiskott-Aldrich syndrome (WAS) protein gene causes somatic mosaicism in two WAS siblings. J Clin Invest (2003) 1.08
Agreement between Occupational Therapy Practice Framework classifications and occupational therapists' classifications. Am J Occup Ther (2007) 1.07
Clinical spectrum, pathophysiology and treatment of the Wiskott-Aldrich syndrome. Curr Opin Hematol (2011) 1.06
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Homozygous DNA ligase IV R278H mutation in mice leads to leaky SCID and represents a model for human LIG4 syndrome. Proc Natl Acad Sci U S A (2010) 1.04
Evaluating the quality of reporting occupational therapy randomized controlled trials by expanding the CONSORT criteria. Am J Occup Ther (2006) 1.03
Genome-wide alteration of 5-hydroxymethylcytosine in a mouse model of fragile X-associated tremor/ataxia syndrome. Hum Mol Genet (2013) 1.03
Lack of iNKT cells in patients with combined immune deficiency due to hypomorphic RAG mutations. Blood (2007) 1.02
Impaired conditioned fear and enhanced long-term potentiation in Fmr2 knock-out mice. J Neurosci (2002) 1.02
Functional defects of dendritic cells in patients with CD40 deficiency. Blood (2003) 1.02
A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIP. J Exp Med (2012) 1.02
Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections. N Engl J Med (2015) 1.02
Omenn syndrome in an infant with IL7RA gene mutation. J Pediatr (2006) 1.01
Damaging-agent sensitivity of Artemis-deficient cell lines. Eur J Immunol (2005) 1.00