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Carbonic Anhydrase IX
Impact of prenatal maternal psychological distress on fetal biometric parameters in household air pollution-exposed Nigerian women.
Modeling MRSA in the Community
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Genetic Drivers of Kidney Defects in the DiGeorge Syndrome.
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Complex Reoperation in a Patient With DiGeorge Syndrome.
Academic Article
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Mice lacking the homologue of the human 22q11.2 gene CRKL phenocopy neurocristopathies of DiGeorge syndrome.
Academic Article
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Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common cortical malformation.
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Imamoto, Akira
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DiGeorge Syndrome
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Effects of a functional COMT polymorphism on prefrontal cognitive function in patients with 22q11.2 deletion syndrome.
Academic Article
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Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the GPR98 Locus on 5q14.3.
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Mosaicism del(22)(q11.2q11.2)/dup(22)(q11.2q11.2) in a patient with features of 22q11.2 deletion syndrome.
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Overt cleft palate phenotype and TBX1 genotype correlations in velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients.
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Essential role of the Crk family-dosage in DiGeorge-like anomaly and metabolic homeostasis.
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Evidence that duplications of 22q11.2 protect against schizophrenia.
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Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder.
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The zebrafish van gogh mutation disrupts tbx1, which is involved in the DiGeorge deletion syndrome in humans.
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Developmental mechanisms of human congenital heart disease
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