Translational genetics for diagnosis of human disorders of sex development

RM Baxter, E Vilain - Annual review of genomics and human …, 2013 - annualreviews.org
Disorders of sex development (DSDs) are congenital conditions with discrepancies between
the chromosomal, gonadal, and phenotypic sex of the individual. Such disorders have …

New technologies to uncover the molecular basis of disorders of sex development

H Barseghyan, EC Délot, E Vilain - Molecular and cellular endocrinology, 2018 - Elsevier
The elegant developmental biology experiments conducted in the 1940s by French
physiologist Alfred Jost demonstrated that the sexual phenotype of a mammalian embryo …

Mammalian sex determination—insights from humans and mice

S Eggers, A Sinclair - Chromosome research, 2012 - Springer
Disorders of sex development (DSD) are congenital conditions in which the development of
chromosomal, gonadal, or anatomical sex is atypical. Many of the genes required for gonad …

[HTML][HTML] New technologies for the identification of novel genetic markers of disorders of sex development (DSD)

A Bashamboo, S Ledig, P Wieacker… - Sexual …, 2010 - karger.com
Although the genetic basis of human sexual determination and differentiation has advanced
considerably in recent years, the fact remains that in most subjects with disorders of sex …

Mechanism of sex determination in humans: insights from disorders of sex development

A Bashamboo, K McElreavey - Sexual Development, 2016 - karger.com
In this review we will consider the gene mutations responsible for the non-syndromic forms
of disorders of sex development (DSD) and how recent genetic findings are providing …

Disorders of sex development: effect of molecular diagnostics

JC Achermann, S Domenice, TASS Bachega… - Nature Reviews …, 2015 - nature.com
Disorders of sex development (DSDs) are a diverse group of conditions that can be
challenging to diagnose accurately using standard phenotypic and biochemical …

[HTML][HTML] Disorders of sex development: Genetic characterization of a patient cohort

M García-Acero, O Moreno-Niño… - Molecular …, 2020 - spandidos-publications.com
Disorders of sex development (DSDs) are congenital conditions in which the external
appearance of the individual does not coincide with the chromosomal constitution or the …

Gonadal development

AK Lucas-Herald, A Bashamboo - Understanding Differences and …, 2014 - karger.com
The commitment of the embryonic gonad towards the male or female fate is a sequential and
complex developmental process. The sex-independent growth and development of the …

The endless quest for sex determination genes

A Fleming, E Vilain - Clinical genetics, 2005 - Wiley Online Library
Disorders in human sex determination cause defects in gonadal function and can result in a
spectrum of abnormalities in the internal and external genitalia, ranging from relatively mild …

Disorders of sex development—novel regulators, impacts on fertility, and options for fertility preservation

NL Gomes, T Chetty, A Jorgensen… - International Journal of …, 2020 - mdpi.com
Disorders (or differences) of sex development (DSD) are a heterogeneous group of
congenital conditions with variations in chromosomal, gonadal, or anatomical sex. Impaired …