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Quoted phrase not found in phrase index: "46,XY sex reversal 1"
Page 1
Xp-duplications with and without sex reversal.
Baumstark A, Barbi G, Djalali M, Geerkens C, Mitulla B, Mattfeldt T, de Almeida JC, Vargas FR, Llerena Júnior JC, Vogel W, Just W. Baumstark A, et al. Hum Genet. 1996 Jan;97(1):79-86. doi: 10.1007/BF00218838. Hum Genet. 1996. PMID: 8557267 Review.
Duplications in Xp including the DSS (dosage sensitive sex reversal) region cause male to female sex reversal. We investigated two patients from families with Xp duplications. The first case was one of two sisters with karyotype 46,XY,der …
Duplications in Xp including the DSS (dosage sensitive sex reversal) region cause male to female sex reversal. W …
SF1 in the development of the adrenal gland and gonads.
Ozisik G, Achermann JC, Meeks JJ, Jameson JL. Ozisik G, et al. Horm Res. 2003;59 Suppl 1:94-8. doi: 10.1159/000067831. Horm Res. 2003. PMID: 12566727 Review.
SF1 (steroidogenic factor-1; NR5A1) is an orphan nuclear receptor that is expressed in the adrenal gland, gonads, spleen, ventromedial hypothalamus and pituitary gonadotroph cells. ...Targeted disruption of SF1 (FTZF1) in mice prevents gonadal and adrenal development and c …
SF1 (steroidogenic factor-1; NR5A1) is an orphan nuclear receptor that is expressed in the adrenal gland, gonads, spleen, ventromedia …
Are human male patients with DAX1/NR0B1 mutations infertile?
Ravel C, Hyon C, Siffroi JP, Christin-Maitre S. Ravel C, et al. Ann Endocrinol (Paris). 2014 May;75(2):126-7. doi: 10.1016/j.ando.2014.03.003. Epub 2014 Apr 21. Ann Endocrinol (Paris). 2014. PMID: 24751136 Review.
DAX-1 stands for Dosage sensitive sex-reversal, Adrenal hypoplasia congenital (AHC), on the X chromosome. ...DAX-1 protein is necessary to maintain normal spermatogenesis. In humans, male fertility has been studied in few patients carrying DAX-1 …
DAX-1 stands for Dosage sensitive sex-reversal, Adrenal hypoplasia congenital (AHC), on the X chromosome. ...DAX-1 …
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. ...Conclusion: It is unclear why WT1 deletio …
Background: WT1 deletions are associated with nephroblastomas, WT mutations are associated with 46, XY sex reversal …
SRY, SOX9, and DAX1 expression patterns during human sex determination and gonadal development.
Hanley NA, Hagan DM, Clement-Jones M, Ball SG, Strachan T, Salas-Cortés L, McElreavey K, Lindsay S, Robson S, Bullen P, Ostrer H, Wilson DI. Hanley NA, et al. Mech Dev. 2000 Mar 1;91(1-2):403-7. doi: 10.1016/s0925-4773(99)00307-x. Mech Dev. 2000. PMID: 10704874 Free article.
SRY, SOX9, and DAX1 are key genes in human sex determination, by virtue of their associated male-to-female sex reversal phenotypes when mutated (SRY, SOX9) or over-expressed (DAX1). During human sex determination, SRY is expressed in 46,XY …
SRY, SOX9, and DAX1 are key genes in human sex determination, by virtue of their associated male-to-female sex reversal …
Genetic analysis of a Taiwanese family identifies a DMRT3-OAS3 interaction that is involved in human sexual differentiation through the regulation of ESR1 expression.
Tsai CL, Tsai CN, Lee YS, Wang HS, Lee LY, Lin CY, Yang SY, Chao A. Tsai CL, et al. Fertil Steril. 2020 Jul;114(1):133-143. doi: 10.1016/j.fertnstert.2020.03.008. Epub 2020 Jun 16. Fertil Steril. 2020. PMID: 32553473 Free article.
OBJECTIVE: To identify the genetic etiology of recurrent disorders of sex development (DSDs) in a Taiwanese family with 46,XY sex reversal and hypospadias. ...PATIENT(S): A three-generation family consisting of 22 members, with eight cases of …
OBJECTIVE: To identify the genetic etiology of recurrent disorders of sex development (DSDs) in a Taiwanese family with 46, …
Sex reversal following deletion of a single distal enhancer of Sox9.
Gonen N, Futtner CR, Wood S, Garcia-Moreno SA, Salamone IM, Samson SC, Sekido R, Poulat F, Maatouk DM, Lovell-Badge R. Gonen N, et al. Science. 2018 Jun 29;360(6396):1469-1473. doi: 10.1126/science.aas9408. Epub 2018 Jun 14. Science. 2018. PMID: 29903884 Free PMC article.
Cell fate decisions require appropriate regulation of key genes. Sox9, a direct target of SRY, is pivotal in mammalian sex determination. In vivo high-throughput chromatin accessibility techniques, transgenic assays, and genome editing revealed several novel gonadal regula …
Cell fate decisions require appropriate regulation of key genes. Sox9, a direct target of SRY, is pivotal in mammalian sex determinat …
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 …
The role of SF1 in adrenal and reproductive function: insight from naturally occurring mutations in humans.
Ozisik G, Achermann JC, Jameson JL. Ozisik G, et al. Mol Genet Metab. 2002 Jun;76(2):85-91. doi: 10.1016/s1096-7192(02)00032-x. Mol Genet Metab. 2002. PMID: 12083805 Review.
Steroidogenic factor 1 is a monomeric orphan nuclear receptor and one of several hundreds of transcription factors encoded in the human genome. ...Recently, mutations in the gene encoding SF1 have been identified in several patients with primary adrenal failure and 46 …
Steroidogenic factor 1 is a monomeric orphan nuclear receptor and one of several hundreds of transcription factors encoded in the hum …
39 results