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Congenital absence of thymus

Known as: Absent thymus, Thymic aplasia, Aplasia of the thymus 
Absence of the thymus. [HPO:probinson]
National Institutes of Health

Papers overview

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Highly Cited
2010
Highly Cited
2010
The thymus is essential for T-cell development. Here, we focus on the role of the transcription factor Foxn1 in the development… Expand
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Highly Cited
2002
Highly Cited
2002
Deletion of chromosome 22q11, the most common microdeletion detected in humans, is associated with a life-threatening array of… Expand
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2000
2000
The molecular characteristics of the nude phenotype (alopecia and thymic aplasia) in humans and rodents are unknown. The nude… Expand
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Highly Cited
1998
Highly Cited
1998
To investigate molecular and clinical aspects of conotruncal anomaly face (CAF), we studied the correlation between deletion size… Expand
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Highly Cited
1994
Highly Cited
1994
Neuronal changes in the brain of a Rett syndrome patient were examined in a frontal lobe biopsy performed at age 3 years and in… Expand
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Highly Cited
1986
Highly Cited
1986
Despite animal vitamin A congener teratogenicity in animal studies since 1954, striking human findings only arose in 1983… Expand
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1986
1986
Despite animal vitamin A congener teratogenicity in animal studies since 1954, striking human findings only arose in 1983… Expand
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1984
1984
SummaryPartial monosomy of 22q due to an unbalanced 4;22 translocation was seen in a 2-month-old male with Type I truncus… Expand
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Highly Cited
1976
Highly Cited
1976
Treatment with desoxycorticosterone acetate (DOCA) and 1 per cent saline as drinking water for 21 days caused a significant and… Expand
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1968
1968
creasing interest in the function of the thymus and its relationship to clinical disease. The thymus has been shown to have a… Expand
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