Disorders of sexual development: current status and progress in the diagnostic approach
M García-Acero, O Moreno, F Suárez, A Rojas - Current urology, 2020 - karger.com
Disorders of sexual development (DSD) are conditions with an atypical chromosomal,
gonadal or phenotypic sex, which leads to differences in the development of the urogenital …
gonadal or phenotypic sex, which leads to differences in the development of the urogenital …
Molecular heterogeneity of XY sex reversal in horses
Summary Male‐to‐female 64, XY sex reversal is a frequently reported chromosome
abnormality in horses. Despite this, the molecular causes of the condition are as yet poorly …
abnormality in horses. Despite this, the molecular causes of the condition are as yet poorly …
[HTML][HTML] Genome-wide identification, evolutionary and mutational analysis of the buffalo sox gene family
M Abdullah, MS Rehman, MSN Rehman… - Animals, 2023 - mdpi.com
Simple Summary The Sox gene family is a set of specific transcriptional factor (TF) proteins,
with a very similar sequence compared to the sex-determining region Y (SRY), related high …
with a very similar sequence compared to the sex-determining region Y (SRY), related high …
[HTML][HTML] Identification of a new mutation in the SRY gene in a 46, XY woman with Swyer syndrome
E Marchina, A Gambera, E Spinelli, P Clerici… - Fertility and …, 2009 - Elsevier
OBJECTIVE: To determine the genetic cause of primary amenorrhea in a 46, XY woman.
DESIGN: Case report. SETTING: Centre of Gynecological Endocrinology and Cytogenetics …
DESIGN: Case report. SETTING: Centre of Gynecological Endocrinology and Cytogenetics …
[HTML][HTML] A de novo frameshift mutation of the SRY gene leading to a patient with 46, XY complete gonadal dysgenesis
XB Wang, YL Liang, ZJ Zhu, Y Zhu, P Li… - Asian Journal of …, 2019 - journals.lww.com
523 screening of the SRY coding region revealed a deletion of adenine (A) at nucleotide
position 70 (c. 70delA) in the patient (Figure 1d). The mutation was not found in her family …
position 70 (c. 70delA) in the patient (Figure 1d). The mutation was not found in her family …
[PDF][PDF] Investigation of mutations in the SRY, SOX9, and DAX1 genes in sex reversal patients from the Sichuan region of China
L Chen, XP Ding, X Wei, LX Li - Genet Mol Res, 2014 - funpecrp.com.br
We investigated the molecular genetic mechanism of sex reversal by exploring the
relationship between mutations in the sex-determining genes SRY, SOX9, and DAX1 with …
relationship between mutations in the sex-determining genes SRY, SOX9, and DAX1 with …
Swyer's Syndrome: In a fifty-year-old female
C Culha, M Ozkaya, R Serter, I Sahin, B Aydin… - The Journal of Obstetrics …, 2012 - Springer
Disorders of sexual differentiation may be classified into two categories; 1-disorders of
gonadal differentiation; and 2-disorders of genital development. Here we present a case …
gonadal differentiation; and 2-disorders of genital development. Here we present a case …
SRY and NR5A1 gene mutation in Algerian children and adolescents with DSD and testicular dysgenesis
N Kherouatou-Chaoui, D Chellat-Rezgoune… - African Health …, 2021 - ajol.info
Background: In humans, sex determination and differentiation is genetically controlled.
Disorders of sex development (DSD) result in anomalies of the development of the external …
Disorders of sex development (DSD) result in anomalies of the development of the external …