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Complete gonadal dysgenesis in clinical practice: the 46,XY karyotype accounts for more than one third of cases
(Elsevier Science IncNew YorkEUA, 2011)
Complete XY gonadal dysgenesis due to p.D293N homozygous mutation in the NR5A1 gene: a case study
(Polish Acad Sciences, Inst Plant GeneticsPoznanPolónia, 2010)
Physiology, molecular biology and therapeutic potential of the thymic peptide thymulin
(Sociedad Argentina de Fisiología, 2012-10)
Thymulin is a thymic hormone exclusively produced by the thymic epithelial cells. After its discovery and initial characterization in the ‘70s, it was demonstrated that thymulin production and secretion is strongly influenced ...
Ovarian dysgenesis due to an idic(X)(q2803)
(1987)
A 17-year old female patient with gonadal dysgenesis but no other turnerian features was found to have a 46,X,idic(X)(pter?q2803:q2803?pter) karyotype in her lymphocytes. Replication of the rearranged X was consistently ...
Ovarian dysgenesis due to an idic(X)(q2803)
(1987)
A 17-year old female patient with gonadal dysgenesis but no other turnerian features was found to have a 46,X,idic(X)(pter→q2803:q2803→pter) karyotype in her lymphocytes. Replication of the rearranged X was consistently ...
Is a CIS phenotype apparent in children with Disorders of Sex Development? Milder testicular dysgenesis is associated with a higher risk of malignancy
(Wiley, 2014-09)
All malignant testicular germ cell tumors (TGCT) of adult men are preceded by an in situ stage (CIS) of protracted evolution. Theadult CIS is well characterized, but there is debate on the phenotype of infantile CIS, its ...