Swyer Syndrome

Known as: 46,XY Complete Gonadal Dysgenesis, Pure Gonadal Dysgenesis 46,XY, Complete Gonadal Dysgenesis, 46, XY 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

1955-2018
05101519552017

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2010
2010
BACKGROUND XY gonadal dysgenesis (XY-GD) is a heterogeneous disorder characterized by failure of testicular development despite a… (More)
Is this relevant?
2007
2007
Deletions of distal chromosome 9p24 are often associated with 46,XY gonadal dysgenesis and, depending on the extent of the… (More)
  • table 1
  • figure 1
Is this relevant?
Highly Cited
2006
Highly Cited
2006
Mutation of the transcription factor and tumor suppressor gene WT1 results in a range of genitourinary anomalies in humans… (More)
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • figure 5
Is this relevant?
2006
2006
CONTEXT Primary adrenal failure is a life-threatening condition that can be caused by a range of etiologies, including autoimmune… (More)
  • table 1
  • table 2
  • figure 1
  • figure 3
  • figure 2
Is this relevant?
2004
2004
The Y chromosome-specific gene SRY is one of the key genes involved in human sex determination. The SRY gene encodes a testis… (More)
Is this relevant?
2004
2004
Targeted disruption of the orphan nuclear receptor SF1 results in the absence of adrenals and gonads, establishing that this… (More)
Is this relevant?
Highly Cited
2000
Highly Cited
2000
Sex determination is regulated by diverse pathways. Although upstream signals vary, a cysteine-rich DNA-binding domain (the DM… (More)
Is this relevant?
2000
2000
Deletions of 9p have been associated with 46,XY gonadal dysgenesis, and the smallest region of overlap has been mapped to the tip… (More)
Is this relevant?
1979
1979
H-Y antigen was determined in 12 patients affected by XY gonadal dysgenesis. Of these, three proved to be H-Y negative, and nine… (More)
Is this relevant?