Results 51 to 60 of about 110,162 (292)
Cromossomo Y na síndrome de Turner: revisão da literatura [PDF]
, 2009 Turner syndrome (TS) is one of the most common types of aneuploidy among humans, and is present in 1:2000 newborns with female phenotype. Cytogenetically, the syndrome is characterized by sex chromosome monosomy (45,X), which is present in 50-60% of the ...
Bianco, Bianca Alves Vieira +5 more
core +2 more sources
"Human sex differentiation: From transcription factors to gender" [PDF]
, 2000 Amy B. Wiesniewski is an Assistant Professor of Biology at Drake University, Des Moines, Iowa. She can be contacted at amy.wisniewski@drake.eduOver the past decade, knowledge of the genetic control of human sex differentiation has greately expanded our ...
Migeon, Claude J., Wisniewski, Amy B.
core +2 more sources
O uso da hibridação in situ com fluorescência no diagnóstico de mosaicismo oculto: a propósito de três casos de anomalias de cromossomos sexuais [PDF]
, 2012 FISH has been used as a complement to classical cytogenetics in the detection of mosaicism in sex chromosome anomalies. The aim of this study is to describe three cases in which the final diagnosis could only be achieved by FISH. Case 1 was an 8-year-old
Andrade, Juliana Gabriel Ribeiro +7 more
core +3 more sources
Mixed gonadal dysgenesis in 45,X Turner syndrome with gene [PDF]
Annals of Pediatric Endocrinology & Metabolism, 2015 Turner syndrome is the most common chromosomal disorder in girls. Various phenotypic features show depending upon karyotype from normal female through ambiguous genitalia to male.
Jae Yeop Jung +6 more
doaj +1 more source
New NR5A1 mutations and phenotypic variations of gonadal dysgenesis
PLoS ONE, 2017 Mutations in NR5A1 have been reported as a frequent cause of 46,XY disorders of sex development (DSD) associated to a broad phenotypic spectrum ranging from infertility, ambiguous genitalia, anorchia to gonadal dygenesis and female genitalia.
R. Werner +10 more
semanticscholar +1 more source
Biochemistry and Biophysics Reports, 2017 DM domain transcription factors play important roles in sexual development in a wide variety of species from invertebrate to humans. Among seven mammalian family members of DM domain transcription factors, DMRT1 has been studied in mouse and human for ...
Masafumi Inui +3 more
doaj +1 more source
Incidental gonadal tumors at the time of gonadectomy in women with Swyer syndrome: a case series [PDF]
, 2015 Background: Swyer syndrome (46XY complete gonadal dysgenesis) is an uncommonly encountered condition in our population. Gonadectomy is recommended upon diagnosis due to a significant risk of malignant transformation of the dysgenetic gonads, typically to
Hanlon, Amie J. M., Kimble, Rebecca M.
core +1 more source
Novel mutation of MAP3K1 gene in 46,XY DSD with complete gonadal dysgenesis
Taiwanese Journal of Obstetrics & Gynecology, 2022 Objective: Swyer syndrome, or 46, XY complete gonadal dysgenesis, is a disorder of human sexual development which present with female external genitalia, lack of female reproductive organs, and a 46, XY karyotype.
Pei-Hsiu Yu +4 more
doaj
Nucleoporin107 mediates female sexual differentiation via Dsx
eLife, 2022 We recently identified a missense mutation in Nucleoporin107 (Nup107; D447N) underlying XX-ovarian-dysgenesis, a rare disorder characterized by underdeveloped and dysfunctional ovaries.
Tikva Shore +13 more
doaj +1 more source
design, methodology, recruitment, data quality and study population [PDF]
, 2017 Background dsd-LIFE is a comprehensive cross-sectional clinical outcome study of individuals with disorders/differences of sex development (DSD).
Bouvattier, Claire +9 more
core +1 more source