Molecular genetics of infertility: loss-of-function mutations in humans and corresponding knockout/mutated mice
SY Jiao, YH Yang, SR Chen - Human reproduction update, 2021 - academic.oup.com
BACKGROUND Infertility is a major issue in human reproductive health, affecting an
estimated 15% of couples worldwide. Infertility can result from disorders of sex development …
estimated 15% of couples worldwide. Infertility can result from disorders of sex development …
Dissecting the molecular pathways of (testicular) germ cell tumour pathogenesis; from initiation to treatment‐resistance
LHJ Looijenga, AJM Gillis, H Stoop… - … journal of andrology, 2011 - Wiley Online Library
Human type II germ cell tumours (GCTs) originate from an embryonic germ cell, either as a
primordial germ cell or gonocyte. This start determines the biological as well as clinical …
primordial germ cell or gonocyte. This start determines the biological as well as clinical …
Disorders of sex development: summaries of long-term outcome studies
J Schober, A Nordenström, P Hoebeke, P Lee… - Journal of Pediatric …, 2012 - Elsevier
Existing outcomes for DSD individuals are inadequate because reports are based upon
information collected retrospectively. This paper is presented to review existing data …
information collected retrospectively. This paper is presented to review existing data …
The biology of germ cell tumors in disorders of sex development
R Hersmus, Y van Bever, KP Wolffenbuttel… - Clinical …, 2017 - Wiley Online Library
Development of a malignant germ cell tumor, ie, germ cell cancer (GCC) in individuals with
disorders of sex development (DSD) depends on a number of (epi‐) genetic factors related …
disorders of sex development (DSD) depends on a number of (epi‐) genetic factors related …
A brief review of the link between environment and male reproductive health: lessons from studies of testicular germ cell cancer
NE Skakkebaek - Hormone research in paediatrics, 2016 - karger.com
During the past few decades there has been a significantly increasing trend in germ cell
tumours all over the world, particularly in countries with Caucasian populations. The …
tumours all over the world, particularly in countries with Caucasian populations. The …
Gonadoblastoma in patients with 45, X/46, XY mosaicism: a 16-year experience
D Coyle, B Kutasy, KH Suyin, B Antao, SA Lynch… - Journal of Pediatric …, 2016 - Elsevier
Background It is recognised that individuals with a 45, X/46, XY karyotype, known as Turner
mosaic syndrome with Y chromosome material (TMSY), have an increased risk of …
mosaic syndrome with Y chromosome material (TMSY), have an increased risk of …
A 46, XY female DSD patient with bilateral gonadoblastoma, a novel SRY missense mutation combined with a WT1 KTS splice-site mutation
R Hersmus, YG Van der Zwan, H Stoop, P Bernard… - PLoS …, 2012 - journals.plos.org
Patients with Disorders of Sex Development (DSD), especially those with gonadal
dysgenesis and hypovirilization are at risk of developing malignant type II germ cell …
dysgenesis and hypovirilization are at risk of developing malignant type II germ cell …
Novel pathogenic mutations in disorders of sex development associated genes cause 46, XY complete gonadal dysgenesis
M Xue, X Wang, C Li, M Zhao, F He, X Li - Gene, 2019 - Elsevier
Disorders of sex development (DSDs) are congenital conditions in which chromosomal,
gonadal and sex is atypical. It is difficult to diagnose and manage patients with DSD in …
gonadal and sex is atypical. It is difficult to diagnose and manage patients with DSD in …
[HTML][HTML] The genetic causes of male infertility: A Middle East and North Africa perspective
Male infertility is attributable to 60% of total infertility cases and about 30-50% of these cases
remain idiopathic. In the Middle East and North Africa region (MENA), male infertility affects …
remain idiopathic. In the Middle East and North Africa region (MENA), male infertility affects …
Functional analysis of SRY variants in individuals with 46, XY Differences of Sex Development.
FP Idris, J van den Bergen, G Robevska… - Molecular and Cellular …, 2025 - Elsevier
In mammals, male sexual development is initiated by the expression of the Sex-determining-
Region-Y (SRY) gene. SRY contains a highly conserved High Mobility Group (HMG) box …
Region-Y (SRY) gene. SRY contains a highly conserved High Mobility Group (HMG) box …