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Quoted phrase not found in phrase index: "46,XY sex reversal 2"
Page 1
Aetiological bases of 46,XY disorders of sex development in the Hong Kong Chinese population.
Chan AO, But WM, Lee CY, Lam YY, Ng KL, Loung PY, Lam A, Cheng CW, Shek CC, Wong WS, Wong KF, Wong MY, Tse WY. Chan AO, et al. Hong Kong Med J. 2015 Dec;21(6):499-510. doi: 10.12809/hkmj144402. Epub 2015 Oct 16. Hong Kong Med J. 2015. PMID: 26492835 Free article.
SETTING: Five public hospitals in Hong Kong. PATIENTS: Patients with 46,XY disorders of sex development under the care of paediatric endocrinologists between July 2009 and June 2011. ...CONCLUSIONS: Our findings suggest that 5alpha-reductase 2 deficien …
SETTING: Five public hospitals in Hong Kong. PATIENTS: Patients with 46,XY disorders of sex development under the care …
Anomalies in Human Sex Determination: Usefulness of a Combined Cytogenetic Approach to Characterize an Additional Case with Xp Functional Disomy Associated with 46,XY Gonadal Dysgenesis.
Rjiba K, Slimani W, Gaddas M, Hassine IH, Jelloul A, Khelifa HB, El Amri F, Zaouali M, Mcelreavey K, Saad A, Mougou-Zerelli S. Rjiba K, et al. J Clin Res Pediatr Endocrinol. 2023 Feb 27;15(1):25-34. doi: 10.4274/jcrpe.galenos.2022.2022-3-15. Epub 2022 Aug 19. J Clin Res Pediatr Endocrinol. 2023. PMID: 35984215 Free PMC article.
OBJECTIVE: Disorders of sexual development (DSD) are a heterogeneous group of genital defects affecting chromosomal, gonadal and anatomical sex. 46,XY DSD is a subset of DSD which covers a wide range of phenotypes in which 46,XY gonadal dysgenes …
OBJECTIVE: Disorders of sexual development (DSD) are a heterogeneous group of genital defects affecting chromosomal, gonadal and anatomical …
WAGR, Sex Reversal, Bilateral Gonadoblastomas, and Intralobar Nephrogenic Rests: Uncertainties of Pre-Biopsy Chemotherapy in a High Risk Syndrome for Nephroblastoma.
Craver R, Stark M, Moss S, Long S, Prasad P, C Roth C. Craver R, et al. Fetal Pediatr Pathol. 2023 Feb;42(1):63-71. doi: 10.1080/15513815.2022.2043962. Epub 2022 Feb 24. Fetal Pediatr Pathol. 2023. PMID: 35199613
Background: WT1 deletions are associated with nephroblastomas, WT mutations are associated with 46, XY sex reversal. It is unclear why only a few WT1 deletions are associated with sex reversal. Case report. This 46, XY femal …
Background: WT1 deletions are associated with nephroblastomas, WT mutations are associated with 46, XY sex reversal …
Identification of novel SRY mutations and SF1 (NR5A1) changes in patients with pure gonadal dysgenesis and 46,XY karyotype.
Paliwal P, Sharma A, Birla S, Kriplani A, Khadgawat R, Sharma A. Paliwal P, et al. Mol Hum Reprod. 2011 Jun;17(6):372-8. doi: 10.1093/molehr/gar002. Epub 2011 Jan 17. Mol Hum Reprod. 2011. PMID: 21242195
Primary amenorrhea due to 46,XY disorders of sexual development (DSD) is complex with the involvement of several genes. ...These results reiterate the importance of SRY and others, such as SF1 (NR5A1) and DHH, that are involved in the cascade of events leading to …
Primary amenorrhea due to 46,XY disorders of sexual development (DSD) is complex with the involvement of several genes. ...The …
45,X/46,XY mosaicism: report of 27 cases.
Telvi L, Lebbar A, Del Pino O, Barbet JP, Chaussain JL. Telvi L, et al. Pediatrics. 1999 Aug;104(2 Pt 1):304-8. doi: 10.1542/peds.104.2.304. Pediatrics. 1999. PMID: 10429013
No correlation between the proportion of the 45,X/46,XY cell lines in the blood or the fibroblasts and the phenotype was found. ...These data indicate the importance of an accurate clinical and histologic evaluation of any patient presenting with 45, X/46, …
No correlation between the proportion of the 45,X/46,XY cell lines in the blood or the fibroblasts and the phenotype was found …
Prevalence of X-aneuploidies, X-structural abnormalities and 46,XY sex reversal in Turkish women with primary amenorrhea or premature ovarian insufficiency.
Geckinli BB, Toksoy G, Sayar C, Soylemez MA, Yesil G, Aydın H, Karaman A, Devranoglu B. Geckinli BB, et al. Eur J Obstet Gynecol Reprod Biol. 2014 Nov;182:211-5. doi: 10.1016/j.ejogrb.2014.09.033. Epub 2014 Sep 28. Eur J Obstet Gynecol Reprod Biol. 2014. PMID: 25445102
Chromosomal abnormalities were present in 44 of 175 cases (25%). 15 were full blown or mosaic numerical X chromosome abnormalities (8.5%), 10 were full blown or mosaic X-chromosome structural anomalies (5.7%), one was X-autosome translocation (0.5%), 3 were autosomal anomalies (1 …
Chromosomal abnormalities were present in 44 of 175 cases (25%). 15 were full blown or mosaic numerical X chromosome abnormalities (8.5%), 1 …
Two novel mutations in SRY gene form Chinese sex reversal XY females.
Zhou C, Fu JJ, Li LY, Lu GX. Zhou C, et al. Yi Chuan Xue Bao. 2005 May;32(5):443-9. Yi Chuan Xue Bao. 2005. PMID: 16018252
Deletion and inactivating mutations of SRY are among the known causes of XY sex reversal. Here, we described the screening of 10 patients who presented with 46,XY sex reversal for mutations in open reading frame (ORF) of SRY gene. ...The …
Deletion and inactivating mutations of SRY are among the known causes of XY sex reversal. Here, we described the screening of …
Human Sex Determination at the Edge of Ambiguity: INHERITED XY SEX REVERSAL DUE TO ENHANCED UBIQUITINATION AND PROTEASOMAL DEGRADATION OF A MASTER TRANSCRIPTION FACTOR.
Racca JD, Chen YS, Yang Y, Phillips NB, Weiss MA. Racca JD, et al. J Biol Chem. 2016 Oct 14;291(42):22173-22195. doi: 10.1074/jbc.M116.741959. Epub 2016 Aug 30. J Biol Chem. 2016. PMID: 27576690 Free PMC article.
The variant's gene regulatory activity (as assessed in a cellular model of the rat embryonic XY gonadal ridge) was reduced by 2-fold relative to wild-type SRY at similar levels of mRNA expression. Chemical proteasome inhibition restored native-like SRY expression and trans …
The variant's gene regulatory activity (as assessed in a cellular model of the rat embryonic XY gonadal ridge) was reduced by 2-fold …
A study of gender outcome of Egyptian patients with 46,XY disorder of sex development.
Ismail SI, Mazen IA. Ismail SI, et al. Sex Dev. 2010 Sep;4(4-5):285-91. doi: 10.1159/000317120. Epub 2010 Jul 24. Sex Dev. 2010. PMID: 20664246
Children with disorder of sex development (DSD) may be born with ambiguous genitalia. Decision-making in relation to sex assignment has been perceived as extremely disturbing and difficult to families and health care professionals. ...This is the first study in Egyp …
Children with disorder of sex development (DSD) may be born with ambiguous genitalia. Decision-making in relation to sex assig …
Ovaries and female phenotype in a girl with 46,XY karyotype and mutations in the CBX2 gene.
Biason-Lauber A, Konrad D, Meyer M, DeBeaufort C, Schoenle EJ. Biason-Lauber A, et al. Am J Hum Genet. 2009 May;84(5):658-63. doi: 10.1016/j.ajhg.2009.03.016. Epub 2009 Apr 9. Am J Hum Genet. 2009. PMID: 19361780 Free PMC article.
A girl with a prenatal 46,XY karyotype was born with a completely normal female phenotype, including uterus and histologically normal ovaries. In mice with a similar phenotype, the ablation of M33, an ortholog of Drosophila Polycomb, causes male-to-female sex …
A girl with a prenatal 46,XY karyotype was born with a completely normal female phenotype, including uterus and histologically …
23 results