|1.||Harley, Vincent R: 3 articles (01/2012 - 09/2003)|
|2.||Słowikowska-Hilczer, Jolanta: 2 articles (09/2013 - 01/2013)|
|3.||Helszer, Zofia: 2 articles (09/2013 - 01/2013)|
|4.||Kałużewski, Bogdan: 2 articles (09/2013 - 01/2013)|
|5.||Jędrzejczyk, Sławomir: 2 articles (09/2013 - 01/2013)|
|6.||Dmochowska, Anita: 2 articles (09/2013 - 01/2013)|
|7.||Stoop, Hans: 2 articles (01/2012 - 12/2009)|
|8.||Bernard, Pascal: 2 articles (01/2012 - 12/2009)|
|9.||Oosterhuis, J Wolter: 2 articles (01/2012 - 12/2009)|
|10.||Drop, Stenvert L S: 2 articles (01/2012 - 12/2009)|
|1.||Androgen-Insensitivity Syndrome (Testicular Feminization)
01/01/2013 - "The main objective of this study was to determine the molecular cause of androgen insensitivity syndrome in a 46,XY female patient. "
06/01/2012 - "The XY Female (Androgen Insensitivity Syndrome)-Runs in the Family."
05/01/2009 - "We report an investigation of the experience of being an XY female through the analysis of accounts posted on an Androgen Insensitivity Syndrome support group website. "
05/01/2009 - "Being an XY female: an analysis of accounts from the website of the androgen insensitivity syndrome support group."
10/01/1999 - "Markedly prolonged expression of AMH was observed in a 20-yr-old 46,XY female with androgen insensitivity syndrome, who retained prepubertal testicular morphology. "
|2.||Gonadal Dysgenesis (Gonadal Agenesis)
05/01/2015 - "Human mutations in NR5A1were initially found in two 46, XY female patients suffering from severe gonadal dysgenesis and primary adrenal failure. "
01/01/2015 - "A rare cause of primary amenorrhoea, the XY female with gonadal dysgenesis."
09/10/2013 - "341A>G) in the SRY gene in a 46,XY female patient with gonadal dysgenesis."
04/01/2011 - "In addition, we report the occurrence of the p.G95R mutation in a 46,XY female with complete gonadal dysgenesis. "
01/01/2008 - "Human mutations in SF1 were initially found in two 46,XY female patients with severe gonadal dysgenesis and primary adrenal failure. "
|3.||46,XY Gonadal Dysgenesis (Swyer Syndrome)
10/01/1997 - "We describe a novel double nucleotide substitution in the SRY gene of a 46,XY female with gonadal dysgenesis or Swyer syndrome. "
08/01/1993 - "We describe a new point mutation in the SRY gene of a Chinese XY female with gonadal dysgenesis (Swyer syndrome). "
06/01/1990 - "Gonadal dysgenesis, XY female type (Swyer-Syndrome)."
02/01/2001 - "Sixteen cases of gonadal dysgenesis were included in this study: 5 with androgen insensitivity syndrome, 1 with 17-alpha-hydroxylase deficiency, 4 with true hermaphrodite, 2 with 45, X/46, XY gonadal dysgenesis, 1 with 45, X gonadal dysgenesis, 1 with XY pure gonadal dysgenesis, 1 with testicular regression, and 1 XY female who gave birth to a normal baby. "
10/01/1989 - "Cases of XY female, single-birth freemartin and trisomy (61, XX, +20) observed in cytogenetical studies on 18 sterile heifers."
08/01/1980 - "Gonadal dysgenesis in a 46,XY female mosaic for double autosomal trisomies 8 and 21."
07/01/1992 - "On the assumption that the function of the testis is to produce hormones and spermatozoa, the hypothesis of a single Y-chromosomal testis-determining gene with a dominant effect is shown to run counter to the following observed facts: a lowering in testosterone levels and an increase in the incidence of undescended testes, in addition to sterility, in males with multiple X chromosomes; abnormalities of the testes in autosomal trisomies; phenotypic abnormalities of XX males apparently increasing with decreasing amounts of Y-chromosomal material; the occurrence of patients with gonadal dysgenesis and XY males with ambiguous genitalia in the same sibship; the occurrence of identical SRY mutations in patients with gonadal dysgenesis and fertile males in the same pedigree; and the development of XY female and hermaphrodite mice having the same genetic constitution. "
|5.||Disorders of Sex Development (Intersexuality)
11/01/2015 - "About 80% of GB individuals exhibit 46, XY female phenotype while the others are 45, XY and 46, XX with disorders of sex development. "
05/15/2007 - "We describe our findings in a 46,XY female with a clinical features of Genitopatellar syndrome (GPS) and confirmed hermaphroditism with ovotestes, and five additional patients with GPS. "
10/01/2005 - "To investigate the accuracy of assigned diagnosis in XY female intersex conditions. "
03/01/1987 - "Presumptive mosaic origin of an XX/XY female with ambiguous genitalia."
10/01/2004 - "We report a novel mutation in WT1 exon 9 (1214 A>G) resulting in an amino acid change from H to R at codon 405 in a 46 XY female patient who had congenital hypertrophic pyloric stenosis, pseudohermaphroditism masculinus, renal failure, and Wilms tumor, and died at the age of 22 months. "
|1.||type 5 congenital Adrenal hyperplasia
|3.||Androgen Receptors (Androgen Receptor)
|6.||Sex-Determining Region Y Protein (Testis-Determining Factor)
|7.||Cholestenone 5 alpha-Reductase (5 alpha-Reductase)
|8.||Proto-Oncogene Proteins c-met
|10.||Genetic Markers (Genetic Marker)